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- 2020 ACMG Annual Clinical Genetics Meeting Digital ...
2020 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery
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Credit Offered:
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No Credit Offered
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A Phase 2 Randomized, Double Crossover, Open-label, Active Controlled Study Of CNSA-001 In Patients With Phenylketonuria
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Clinical Validity Of Expanded Carrier Screening: Evaluating The Gene-Disease Relationship In More Than 200 Conditions
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Prenatal Exome Sequencing In Ongoing Pregnancies Is Indicated For Fetuses With Structural Anomalies
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Predicted Truncating Variants In SMARCA4 May Be Innocent: The Importance Of Multi-institutional Collaboration
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Development And Clinical Validation Of Transcriptome-sequencing For Pediatric Tumors
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Increasing Access To Germline Genetic Testing For Prostate Cancer Patients Increases Yield Of Actionable Findings Across All Stages Of Disease
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Matched Tumor-Blood Analysis Helps Clarify The Spectrum Of GermlineTP53-Related Cancers In Li Fraumeni Syndrome Patients
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Age Of First Cancer Diagnosis And Survival In Bloom Syndrome
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Assessment Of Mutational Profile In Lynch-syndrome Associated Ovarian Cancers
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Genomic Sequencing In Critical Care: New Roles For Genetic Specialists
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Gencounsel: Optimizing Genetic Counselling With Clinical Implementation Of Genome-wide Sequencing
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Outcomes of Genome-Wide cell-free DNA Testing (cfDNA) in Patients with Prenatal Ultrasound Findings
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“They’re Not Going To Do Nothing For Me:” How Patients View The Value Of Genetic Counseling For Genomic Sequencing
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Exploring The Phenotype Of Deletions/Duplications By Combining SNP-Array Based Products Of Conception Testing With Ultrasound Findings In Later Losses
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Use Of A Chatbot To Facilitate Uptake Of Cascade Genetic Testing
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Recognizing And Adapting To Hurdles To Participation In Genomic Sequencing Research In Served And Underserved Populations
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Predictors Of The Uptake Of Genetic Counseling Among Adult Patients Who Receive A Medically Actionable Result Through Genomic Screening.
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What Does The Medical Genetics Workforce Look Like Today? Data From The 2019 Medical Geneticist Workforce Survey
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Unintended Consequences Of A Population-based Genetics Program: An Intervention To Increase Access May Increase Disparities
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Health Care Utilization And Cost For Infants Receiving Exome Sequencing
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The Alabama Genomic Health Initiative: Early Results And Outcomes Of State-funded Genomic Research Screening
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Parents’ Expected Utility Of Genomic Sequencing For Pediatric Cancer Patients In The Texas Kidscanseq Study
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Ensuring Best Practice In Genomic Education And Evaluation
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Training The Next Generation Of Genomic Medicine Providers: Trends In Medical Education And National Assessment
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Genetics Primary Care Clinic Initiated By Combined Pediatric-Medical Genetics And Genomics Residents: A Potential National Model
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Exploring Passive Refusal: Results Of Re-contacting Emerge Biobank Participants Who Did Not Actively Opt Out Of Receiving Genomic Screening Results
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Dynamic Encryption And Watermarking Of Genomic Sequencing Data To Facilitate Privacy-preserving Ownership-based Data Governance
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Project Baby Bear: The First State-funded Quality Improvement Project Of Rapid Whole Genome Sequencing In Neonatal And Pediatric Intensive Care Units
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A “Genome First” Approach To Characterizing DICER1Pathogenic Variation Prevalence, Penetrance And Phenotype In 92,296 Individuals
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Not Just A Carrier: Hypophosphatasia Presentations Of 12 ALPL Heterozygotes Identified Through Routine Expanded Carrier Screening
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Higher Recovery Of Circulating Trophoblasts From Maternal Blood Early In Pregnancy Is Associated With Adverse Pregnancy Outcomes
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Diagnosis Of Fetal Structural Abnormalities Using Exome Sequencing: A Single Centre Study
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Not All Low Fetal Fraction NIPT Failures Are At Increased Risk For Aneuploidy
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Triploidy/Vanished Twin Detection: Updated Clinical Experience Following Single Nucleotide Polymorphism-Based NIPT Twins Validation
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A Universal Biochemical Platform For Newborn Screening of a Large Panel of Treatable Genetic Disorders
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Reducing False-positive Results In Newborn Metabolic Screening Using Random Forest Machine Learning
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Whole-body MRI And Functional Motor Tests In Children With Pompe Disease: Clinical Tools To Assess Severity Of Muscle Disease
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Hypophosphatemia Gene Panel Sponsored Program: A High Yield Of Molecular Diagnoses From Clinically Confirmed XLH And Suspected XLH/ Genetic Hypophosphatemia
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Screenplus: A Comprehensive Pilot Newborn Screening Program With Multi-stakeholder Support
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De Novo Mutations In Tomm70, An Outer Mitochondrial Membrane Translocase Subunit, Causes Developmental Delay And Neurological Phenotypes
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Clinical, Biochemical And Molecular Phenotypes Of Mild (Nonclassic) Rhizomelic Chondrodysplasia Punctata
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Clinical Utility Of Molecular Genetic Testing In A Large Patient Cohort Suspected With Inherited Metabolic Disorders
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A D-Galactose Treatment Monitoring Index For PGM1-CDG
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Two Siblings With Pathogenic Variants In DHDDS Presenting With Retinitis Pigmentosa And Variable Neurologic And Multisystem Involvement
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A Cohort Study Of Cognitive And Psychosocial Outcomes In Adults With Early-Treated Phenylketonuria
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Leigh Disease &Lt P.e214k &Gt Mutations In The Low German-speaking Mennonite Population In Southwestern Ontario Canada
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Epigenetic Contribution To Type 2 Diabetes Pathogenesis As An Intermediator Between Genetic And Environmental Components Responsive To Exercise Intervention
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Tay-Sachs Disease: DNA Analysis As First-line Test For Carrier Screening
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Successful Application Of A Novel Two-tier Approach That Combines 3-OMD Screening And DDC Sequencing To Detect Aromatic L-amino Acid Decarboxylase Deficiency
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Developing A Management Approach For Patients Diagnosed With The "Late-Onset" Pompe Disease GAA Variants Identified By Newborn Screening: A Cross-Sectional Analysis Of Ten Infants
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High Phenylalanine Concentration Contributes To The Stability Of The F263S-variant Of Phenylalanine Hydroxylase
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Palynziq Clinic: 1 Year And 43 Patients Later
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The Patient Reported Outcome Measurement Information System (PROMIS®) In Mucopolysaccharidoses
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Treatment Of Combined D2-/L2-hydroxyglutaric Aciduria (slc25a1 Deficiency) With Citrate That Demonstrates Positive Outcomes In Seizure Control And Development
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Molecular Diagnostic Findings Of Lysosomal Storage Diseases As A Result Of Detect Lysosomal Storage Diseases, A No-charge Sponsored Testing Program
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Compound Heterozygous Variants In CA5AResulting In Carbonic Anhydrase VA Deficiency-Related Acute Metabolic Encephalopathy In Two Siblings
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Carglumic Acid As A Treatment For Acute Hyperammonemia In Neonates With Isovaleric Acidemia
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Rising Glucosylsphingosine Levels May Be An Early Indicator Of Disease Progression In Pediatric Type I Gaucher Disease
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Prominent Perivascular Spaces In An Adult With Attenuated Mucopolysaccharidosis Type I
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Benign Hyperphenylalaninemia Or Dnajc12 Related Hyperphenylalaninemia? Another Case Identified Through Newborn Screening Program
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L-Alloisoleucine Levels In A Case Series Of Patients With Isovaleric Acidemia
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MRPS34-related Leigh Disease With Normal Oxidative Phosphorylation Testing Identified By Whole Exome Sequencing Following Negative Gene Panel Testing
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A Report Of An 11-year-old Male With Attenuated Hunter Syndrome That Presented With Mitral And Aortic Valve Disease: Overcoming Challenges For Early Diagnosis
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Expanding A Clinical And Biochemical Phenotype Of Acy1 Deficiency: A Cohort Of Eleven Patients With Acy1 Deficiency.
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Dialysis And Outcome In Adults With Urea Cycle Disorders
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Expanding The Phenotype: Attenuated Ethylmalonic Encephalopathy in Two African American Siblings
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TANGO2-related Metabolic Encephalopathy and Arrhythmias in a Child Without Hyperammonemia
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Hypomorphic Variant In Guanidinoacetate N-methyltransferase (GAMT) Confirmed By Untargeted Metabolomic Profiling
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An Additional Case Of PARS2-related Disorder Presenting As Early Infantile Epileptic Encephalopathy
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Expanding The Neurodevelopmental Phenotype Of Asparagine Synthetase Deficiency
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Efficient Identification Of Cases Of Unexplained Atypical Diabetes Using Laboratory Phenotype Databases
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Protracted Diagnostic Odyssey For Two Adult Siblings With Profound Biotinidase Deficiency
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Development Of Gene Specifications For The X-linked Creatine Transporter (SLC6A8) By ClinGen’s Cerebral Creatine Deficiencies (CCDS) Variant Curation Expert Panel
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Use Of The NIH Toolbox Cognition Battery In Children With Pompe Disease: Preliminary Findings
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Pyruvate Dehydrogenase Deficiency And Triheptanoin: Observations From A Single Patient.
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Psychiatric Manifestations In Patients With Atypical Non-Ketotic Hyperglycinemia
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Exomic Diagnosis Of Mitochondrial 3-hydroxy-3-methylglutaryl-CoA Synthase Deficiency Solves An 18 Year Diagnostic Odyssey.
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Utility Of Mrs In The Rapid Evaluation Of Patients With Ornithine Transcarbamylase Deficiency
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Rmnd1-related Mitochondrial Disease Presenting With An Early-onset Fatal Phenotype With Renal Involvement
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First Female Severely Affected With Atypical Hsd10 Disease
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6-pyruvoyltetrahydropterin Synthase Deficiency: Review And Report Of 28 Arab Subjects
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Against All Odds: Sapropterin Therapy In Dhpr Deficiency
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“Awakenings”: Guanosine Triphosphate-cyclohydrolase (gtpch) Deficiency With Remarkable Clinical Improvement After Sapropterin Therapy
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A Comprehensive Testing Program For Newborn Screening Of Krabbe Disease
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Classical Galactosemia, A Case Report & Literature Review
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The Applied Proteogenomics Organizational Learning And Outcomes Protocol (APOLLO): Germline Variant Analysis In Retrospective And Prospective Cohorts
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Experiences And Perceptions Of Patients Undergoing Hereditary Cancer Population Screening
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The Spectrum Of DICER1 Variants Detected In A Clinical Diagnostic Laboratory
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Evaluating Dosage Sensitivity Of Hereditary Cancer Genes
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BCR-ABL1 FUSION BY CHROMOSOMAL INSERTION: AN ANALYSIS OF 15 CASES
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Identification Of Women At Risk For Hereditary Breast Ovarian Cancer Syndrome: The Value Of A Genetics Clinic Referral
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Collaborative Workflow To Clarify Germline Significance Of Somatic Findings In The Oncology Setting
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Three-dimensional Nuclear Telomeric Organization Of Chronic Myeloid Leukemia Patients (cml) Predicts Accelerated Phase And Blast Crisis
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PAN-Cancer RNA-Sequencing Analysis Of Human Telomerase Reverse Transcriptase Isoform Expression Patterns In Neoplastic And Normal Tissue Types
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Developing Optimized ACMG-AMP Criteria For Classification Of Germline Variants In Tp53
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Comprehensive Genomic Profiling In Individuals With Li-fraumeni Syndrome And Somatic Disease Informs Patient Management And Treatment Decisions
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Chatbot Successfully Assesses Risk For Hereditary Cancer In Obstetrics And Gynecology Practices Across The United States
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Germline Genetic Testing Results For Individuals With Melanoma
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Differential Expression Of Aurora Kinase Genes Predict Genomic Instability In Down Syndrome Cells
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The Clinical Utility Of Combined Germline And Somatic Testing Exceeds That Of Either Test Alone
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CDH1 ACMG/AMP Variant Interpretation Guidelines Version 2.0: Evolution Of ClinGen Expert Panel Specifications.
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A Machine Learning System For Cancer Cytogenetic Case Review
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Tumor Profiling Identifies Germline Variants In Lymphoma Patients
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Adult Mice Lacking Brca1 Are Viable And Sensitive To DNA Interstrand Crosslinks But Not Double-strand Breaks
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A Rare Case Of An Acute Myeloid Leukemia With CBFB And BCR/ABL1 Gene Rearrangements - A Case Report And Review Of Literature
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Neonatal Acute Myeloid Leukemia (aml) Vs Mosaic Down Syndrome Associated Transient Abnormal Myelopoiesis (tam): Deciphering Constitutional Vs Neoplastic Cytogenetic Abnormality
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Cytogenetic Abnormalities In Donor Cells After Sex Mismatched Allogenic Stem Cell Transplantation
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A Challenging Case Of Variant Reclassification And Germline Mosaicism In Li Fraumeni Syndrome
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To Follow Or Not To Follow: NCCN Criteria Missing Patients With Hbocs And Lynch Syndrome
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Determining Germline Versus Acquired In A Case With Multiple Copies Of Isoacentric 9p Chromosomes In Bone Marrow
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Identification Of KMT2A/AFDN Fusion Gene On Derivative Chromosome 6 In An Adult Patient With Acute Myeloid Leukemia
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Amplification And Genetic Heterogeneity Of HER2 In Invasive Ductal Carcinoma Of Breast: A 7 - Year Result Review And Clinicopathological Implications
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Cytogenomic And Clinical Characterization Of B-Lymphoblastic Leukemia With Intrachromosomal Amplification Of Chromosome 21 (iAMP21) In An Individual With A Constitutional Ring Chromosome 21
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More Survivors With RTPS-1 Suggests A Need To Revisit Surveillance Recommendations
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Targeting And Preventing Treatment-induced Polyploidy In Double-hit/double-expresser Diffuse Large B-cell Lymphoma
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Recurring Chromosomal Translocation Serves As Predictive Markers Of Progression Of Esophageal Dysplasia To Adenocarcinoma
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A Case Of Familial CEBPA-Associated Acute Myeloid Leukemia In A Nine-Month-Old Infant
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A Case Of T-pll With Ezh2 Mutation; Ezh2 The Sword Or The Shield?
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Cytogenetic And Molecular Genetic Profiling Of B-lineage Leukemia With ZNF384 Rearrangement Identifies Cryptic Gene Fusions And Novel Somatic Alterations In NF1 And Epigenetic Regulators
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Identification Of Germline Variants For Hereditary Cancer Using A Multiplex Amplicon-based Ngs Target Enrichment Approach
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Clinical Utility Of Genomic Screening For Hereditary Cancer Syndromes
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DIFFERENTIAL EXPRESSION ANALYSIS OF AURKA AND AURKB GENES IN DISTINCT TISSUES OF THE ORAL CAVITY: FROM THE BENIGN TO THE MALIGNANT
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Spectrum Of Bcr-abl Rearrangement Variants In Pakistani Patients With CML & ALL: A Retrospective Study
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ALK Rearrangement Status EGFR Negative NSCLC
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Assessment Of Tumor Mutational Burden Using A Multiplex Amplicon-based Ngs Target Enrichment Approach
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Infantile Fibrosarcoma-like Morphology Without Characteristic ETV6-NTRK3 Gene Fusion
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A Germline PALB2 Pathogenic Variant Identified In A Pediatric High Grade Glioma
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Comprehensive Detection Of Germline And Somatic Structural Mutation In Cancer Genomes By Bionano Genomics Optical Mapping
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Multiple Endocrine Neoplasia 2A: Potential Expansion Of Extra-neoplastic Phenotype
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SDHD Hereditary Paraganglioma-Pheochromocytoma Syndrome: Predicting Disease And Personalized Care
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Coordination Of Genetic Testing For Prostate Cancer Patients At A Community Hospital
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Association Of Loss Of Y-chromosome With Carcinogenesis And Early Detection Of Colorectal, Pancreatic And Prostrate Cancers In Males
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Insurance Companies' Adherence To HBOC-related NCCN Guidelines
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Incidental And Unexpected Birt-hogg Dube Syndrome Diagnoses
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Group Genetic Counseling For Low-Risk Prenatal Patients: A Pilot Project
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Point-of-service Genetic Testing In An Ovarian Cancer Patient Population Improves Uptake In Genetic Testing For Hereditary Cancer Risk
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Driving Referral Follow Through: Uptake Of Cancer Genetic Counseling Following Physician Referral
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Prioritizing Variants From Whole Genome Sequencing In Rare Undiagnosed Genetic Disease Cases Using Phenotypic Overlap Counts
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Impact Of Pre-test Genetic Counseling On Patient Decision To Pursue Testing
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Outcomes of Genomic Screening for HBOC, Lynch Syndrome, Familial Hypercholesterolemia and hATTR in Highly Diverse Patients in New York City
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GeneCounsel: A Tool To Automate Portions Of Pre-test Genetic Counseling For Inherited Cancer
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Repeat Dissection Of Products Of Conception Samples Following Suspected Subtle Mosaicism Provides More Accurate Reporting And Increased Detection
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22q11.2 Deletion Syndrome And Coexisting Conditions: An Important Prognostic, Management, And Genetic Counseling Consideration
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Expanding The Phenotype, Or Patients With More Than One Genetic Condition?
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Clinical Utility Of A Patient-facing Family Health History Risk Assessment Tool Among Cancer Patients To Identify Risk For Hereditary Syndromes
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Ethnicity-specific Hereditary Cancer Panel Yields: Moving Towards More Personalized Risk Assessment
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Case Examples Demonstrating The Value Of Oversight By Genetic Counselors For Consumer-initiated Testing
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Dystrophinopathy Phenotypic Variability Considerations For Current Genetic Counseling Practices
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The Impact Of A Family History Of Intellectual Disability On Fragile X Carrier Screening Decisions
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Newborn Screening For X-linked Adrenoleukodystrophy: Genetic Counseling And Psychosocial Challenges
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STK11 Mosaicism Identified Through Germline Testing: Implications For Individuals With Peutz-Jeghers Syndrome
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A New Genetic Testing Model For Women At High Risk For Breast Cancer Based On Family History
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Identification Of Hemizygous Males By Expanded Carrier Screening
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Decreasing Institutional Costs While Improving Care In A Freestanding Children's Hospital: Introduction Of A Genomics Utilization Management Program
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Engaging Patients In Research Through The Participant Engagement And Empowerment Resource (PEER) For The Undiagnosed Diseases Network (UDN)
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The Commission On Cancer Standard 4.4 Is Coming. How Will We Meet The New Requirements Regarding Genetic Counseling?
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Lessons Learned From Family Engagement And A Model For Patient-centered Research: Quality Of Life And Parent-reported Goals In TANGO2-related Disorder
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Evaluation Of The Utilization Of A Genetic Counseling Assistant For Consenting Patients With A Personal History Of Breast Cancer
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Identification Of Biallelic DMD Variants During Maternal Carrier Testing For Becker Muscular Dystrophy
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Single-gene Noninvasive Prenatal Testing For Cystic Fibrosis Improves Clinical Specificity Of Carrier Screening
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Using Knowledge Of Patient Preference For Genetic Testing To Prepare For Shift In Delivery Model Of Cancer Genetic Counseling Services
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Diagnosing The Undiagnosed: Expanding The Genetic Etiology And Phenotypic Spectrum Of Rare Pediatric Conditions
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Geographical Analysis Of The Distribution Of Certified Genetic Counselors In The United States
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High Volume Breast Cancer Genetic Counseling Pilot: Alternative Model To Increase Patient Access
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Newborn Screening Referrals Highlight Pitfalls In Parental Preconception Carrier Testing And Counseling- Two Case Reports
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Patient Satisfaction With Telehealth Genetic Counseling Consultations For Both Office-based Physician-ordered And Consumer-initiated Testing
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The Role Of A Diagnosis And Coping Effectiveness In Psychological Well-being In Parents Of Children With A Suspected Genetic Diagnosis
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Inpatient Pediatric Genetic Counseling: Experiences At Texas Children’S Hospital
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Perceptions Of Provider’S Epistemic Authority In Response To Variant Of Uncertain Significance Related Recommendations
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Development And Testing Of A Training Module For Healthcare Interpreters: Preparing Medical Interpreters For The Delivery Of Exome Sequencing Results
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Hereditary Cancer Testing: Moving Beyond Testing The Affected Individual First
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An Extremely Rare Case Of A Woman With Complex Chromosomal Rearrangements Along With 45,X/46,XX/47,XXX Mosaicism
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"There's No Such Thing As A Genetic Emergency": Genetic Counseling And The Parent Experience In Acute Care
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Report Of A Carrier With Reciprocal Translocation Between Chromosome 1 And 9 In A Complicated Pregnancy
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Two Cases Of Fabry Disease Diagnosed Through Expanded Carrier Screening - Highlighting The Need For Pre-test Genetic Counseling
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Americans’ Knowledge And Perceptions Of Genetic Counselors: A National Sample
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Reproductive Decisions Made By Balanced Chromosome Translocation Carriers
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Genetic Counseling For Autism Spectrum Disorder At Boston Medical Center
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Regulation Of The Preimplantation Genetic Testing In Japan: Challenges For The Clinical Application
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Management Of Pregnancy In A Patient With Stickler Syndrome
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Bullying And Resilience In Adolescents With Loeys-Dietz And Marfan Syndromes
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The Importance Of Genetic Counseling And Teleconsultation For Clinical Whole Exome Sequencing - A First Hand Experience From China
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Impact Of Genetic Counselors At Tumor Board On Endometrial Cancer Patient Referrals For Genetic Testing
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The Difference In Awareness And Referral Rates For Post-mortem Genetic Testing And Counseling Among Medical Examiners, Primary Care Providers, Cardiologists, Neurologists And Other Specialties In Cases Of Sudden, Unexpected, Young Death
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Improved Detection Of Low-level Aneuploidy In Chromosomal Microarray Analysis Of Products Of Conception
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The Unpredictable Is Now Predictable - Use Pharmacogenetic Testing And NCBI's Medical Genetics Summaries (MGS)
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Post Graduate Education: Is Genetics Included On Board Certification Exams?
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“We All Might Be Dying A Little Faster”: Uncertainty Management And Healthcare Barriers For Individuals With Lynch Syndrome
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Challenges And Solutions For Training Genetic Counselors In The Supervision Of Psychosocial Skills
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Disclosure Of Adverse Reaction Pharmacogenomic Variants: How To Confirm Receipt And How Do Biobank Contributors React?
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Should Health Systems Share Genetic Findings With At-risk Relatives When Proband Is Deceased? Interviews With Individuals Diagnosed With Lynch Syndrome
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The Inaugural Clinical Genetics Advanced Practice Provider Conference As The Culmination Of Fully Integrating APPs Into A Clinical Genetics Model
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Laboratory Rotations For Genetic Counseling Graduate Students: Preparing The Next Generation For Careers In And With Genetic Testing Laboratories
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The ClinGen Biocurator Working Group: A Forum For Education And Training For ClinGen Biocurators
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Preemptive PGx Testing: Do Patients Have Concerns?
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Oral Cleft Laterality And Academic Outcomes In Pediatric Patients
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Was Implementing Genomic Sequencing In Pediatric Cancer Care Disruptive? Oncologists’ Views After Returning Genomic Results In The BASIC3 Study
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Selecting Adolescents’ Genomic Research Results: Comparison Of Concordant And Discordant Adolescent-parent Dyads
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Preliminary Evaluation Of The ABMGG Longitudinal Assessment Program Using The Certlink™ Platform
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Finding Zebras In Medical Practice: A Novel Pre-clinical Elective Curriculum To Improve Medical Students’ Familiarity With Genetic Disorders
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Standardizing The Medical Genetics Rotation For Pediatric Residents Enhances Learning Experience
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Filling The EHR/EMR Gap With A Patient- And Provider-centered Genomics Health Exchange
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Returning Negative Results By Mail: A Quantitative And Qualitative Assessment Of Patient Experiences And Interpretations
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Concise And Precise: Developing Accessible Patient Educational Materials For Population Health Genetic Screening
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Rare Genetic Disease Research In Newborns: Tools And Resources From The Newborn Screening Translational Research Network (nbstrn)
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Real-time Consumer Interpretation Of Genetic Test Results Via Online Portal
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The Impact Of A Genetic Diagnosis Of A Sex Chromosome Aneuploidy On Identity And Diagnosis Disclosure
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Empowering General Practice Providers For Genomic Medicine At A Major U.S. Health System
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Participatory Education In Genetics And Precision Medicine For Family Medicine Residents Engages Learner While Meeting Competency Requirements
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To Place A Genetics Consult Or Not?: Neonatology Team Members’ Likelihood Of Considering A Genetics Consult In A Level IV NICU For Certain Clinical Indications
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Hereditary Hemochromatosis: Preventative Care In The Era Of Recreational Direct-to-consumer Genetic Testing
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Development Of A Common Consent Form For Genetic Testing Within The Partners Healthcare System
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Misinterpretation Of Genetic Test Results
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When Barriers Break:the Coexistence Of Mistrust And Willingness To Participate In Genomic Medicine Research
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Prenatal Cell-Free DNA Screening for 22q11.2 Deletion Syndrome: Positive Predictive Value Estimates from a Large US Clinical Laboratory
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The Effect Of Maternal Body Mass Index And Gestational Age On Circulating Trophoblast Yield In Cell-based Noninvasive Prenatal Testing
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A Novel, Noninvasive Prenatal Screening Methodology Identifies A Healthy Fetus From A Mother With A Complex Sickle Cell Disease Genotype
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Review Of Diagnostic Results Following Failed Non-Invasive Prenatal Screening Results
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Right Under Our Nose: A Comprehensive Family History Review For Hereditary Cancer In A Prenatal Genetic Setting
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Lower Fetal Fraction In Non-invasive Prenatal Screening (nips) Is Associated With Increased Risk Of Hypertensive Disorders Of Pregnancy
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Increasing Popularity Of Preimplantation Genetic Testing For Monogenic Disorders (PGT-M) For Cancer Predisposition Genes
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Low-income, Rural, Latina Pregnant Women’S Views And Experiences Of Carrier Screening: A Qualitative Study
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Suspected Maternal Vs. Fetal Sex Chromosome Cell-free Dna Screening Results Impact Diagnostic Testing Uptake And Follow-up
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A Multiplex PCR/CECFTR Prototype Assay And Software Targets Mutations Including Poly-T/TG And Addresses >90% Allele Frequency In US Population
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Whole Exome Sequencing For Prenatal Diagnosis Of Greig Cephalopolysyndactyly Syndrome: A Case Report
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Heterotaxy: Prenatal Diagnosis With Report Of Postnatal Outcomes
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Variable Antenatal Dexamethasone Administration In Fetuses With Congenital Adrenal Hyperplasia
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Experiences Of Prenatal Diagnosis Among Parents Of Children With Sex Chromosome Aneuploidies
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Prenatal Diagnosis Of Harlequin Ichthyosis Resulting In Third Trimester Termination
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Expanded Aneuploidy Analysis Reveals Trisomy 2: Rare Aneuploidy Result Via NIPS Directs Focused Care
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Pregnant Patients’ Knowledge And Decision-making Preferences Regarding Panethnic And Expanded Carrier Screening
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Expansion of the Geleophysic Dysplasia Phenotype in Two Fetuses with a Novel Homozygous ADAMTSL2 Variant
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Development Of A Chatbot Education Aid For Prenatal Testing Options
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A Novel High-throughput Molecular Counting Method With Single Base-pair Resolution Enables Accurate Single-gene Nipt
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Prenatal Diagnosis Of Seckel Syndrome With Bi-allelic Variants In TRAIP
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Rolling Circle Replication Based, Non Invasive Prenatal (NIPT) Assay Offers A Globally Accessible, High Precision, And Low-cost Prenatal Aneuploidy Screen.
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One Lab’s Experience with Cystic Fibrosis Carrier Screening in Males with Infertility
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Lethal Urinary Tract Anomalies In A Fetus With 21q22.11-q22.12 Deletion, Including The Son Gene
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Frequency Of Incidental Maternal Mosaic And Variant Turner Syndrome Detected By NIPT In A Pregnant Cohort
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Biallelic Variants In LAMB1 Causing Hydranencephaly: A Severe Phenotype Of A Rare Malformative Encephalopathy
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A Two-tier Prenatal Chromosome Microarray Testing Strategy Based On Clinical Indication: A Retrospective Study
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Ethical Challenges Of Expanded Carrier Screening In Combined Malonic And Methylmalonic Aciduria: A Case Report
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The Association Of Maternal HBB Pathogenic Variant Status And Fetal Fraction In Non-Invasive Prenatal Screening
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Trends In Congenital Anomalies From 1992 To 2011 In The State Of New York
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Prenatal Evaluation Of Arthrogryposis
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Autosomal Pentasomy Implicates Rare Non-disjunction Event
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Expanding The Prenatal Phenotype Of IPEX Syndrome
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Development And Clinical Validation Of An Automated, Sample Responsive Noninvasive Prenatal Screening Test In A Mixed-risk Population In India
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Lack Of Consensus On The Use Of Exome Sequencing For Prenatal Diagnosis
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Non-mosaic Trisomy 7 At 24 Weeks By Placental Microarray: Prenatal Natural History In The Midtrimester
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Development And Clinical Use Of A Spinal Muscular Atrophy Carrier Screen With Reflex Non-invasive Prenatal Test
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Noninvasive Prenatal Screening: The Analysis Of Redraw Cases
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Prenatal, Postnatal And Maternal Clinical Manifestations Of Patients With Trisomy 13
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Accurate Prediction Of Fetal Disease Status For Maternal Cystic Fibrosis Carriers By Single Gene Non-invasive Prenatal Testing
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Prenatal Presentation Of 17q12 Microdeletion Syndrome: Demonstration Of Intrafamilial Phenotypic Variability And Implications For Presumed Affected Family Members
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Dystrophic Epidermolysis Bullosa In Pregnancy And Delivery Considerations: A Case Series
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Familial Retinoblastoma: The Positive Impact Of Prenatal Diagnosis
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Analytical Validation Of A Sequencing Assay For Alpha Thalassemia That Identifies Novel Variants
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Early Genetic Diagnosis Of Twin Gestation With A Molar Pregnancy
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Inconclusive Prenatal Findings: The Importance Of Follow-up Post-natal Testing In Cases Of Mosaicism
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Discordant Aneuploidies Identified by Chorionic Villus Sampling (CVS) and Amniocentesis Following Non-invasive Prenatal Screening (NIPS)
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Clinical Genetic Testing Laboratories: Compliance With Prenatal Genetic Testing Guidelines
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Preliminary Findings From Returning Polygenic Scores For Coronary Artery Disease To Research Participants
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A Genomic Future For Newborn Screening: Sequencing A Baby For An Optimal Outcome
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The Sanford Health Preemptive Genetic Screening Program - Allele Frequencies For Recurrent Variants In CDC Tier 1 Diseases, CYP2C19, And Others
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Large Scale Electronic Consent: Experience In The Early Check Expanded Newborn Screening Study
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HeartCare: Improving Clinical Practice Through Comprehensive Cardiovascular Genetic Testing
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Increasing Detection Of Hereditary Breast And Ovarian Cancer Via Multigene Panel Testing Without Pre-test Genetic Counseling
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Outcomes Of Insurance Pre-authorization Requests For Genomic Testing In An Outpatient Pediatric Genetics Clinic
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Exploring Healthcare Providers’ Perspectives On The Clinical Utility Of Cell-Free DNA Testing
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Can We Really Test Everyone? A Scalable Model To Identify Healthy Individuals At Risk For Hereditary Cancer Syndromes
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Infants With Genetic Disorders Are Under-represented In National Mortality Statistics
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Implementation Of Universal Lynch Syndrome Screening Programs: A Qualitative Cross-case Comparison Of Two Organizations
|
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Inclusion Of Neuropsychiatric Disorders In Population Genomic Screening: Providing Value, Meaning, And Guidance To Adults With CNV-Disorders
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Using Electronic Health Record Content To Prevent Breast And Ovarian Cancer
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Putting It Into Practice: Tracking Errors In Disclosures Of Genome Sequencing Results In The NICU By Trained Non-Genetics Providers
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Consumer-initiated Genetic Testing: What Is It, And Are We There Yet?
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Trends In The Workforce: Landscape Of Genetics Provider Employment In California
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Impact Of Receiving Clinically Actionable Genetic Results On Lifestyle Behavior Changes
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Population-based DNA Screening In The Primary Care Clinic
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Application Of NCCN Guidelines Via EHR Review Misses Many Individuals With Actionable Cancer Predisposition Variants
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Malignant Hyperthermia: A Multidisciplinary Approach To Leveraging Genetic Results To Increase Patient Safety
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Patient And Public Preferences On Being Re-contacted With Updated Incidental Results: A Mixed Methods Study
|
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Consent Forms Marketed By Commercial Laboratories Vary In Readability
|
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Whole Genome Sequencing As A Screening Tool In Healthy Population: Lessons Learned From 110 Cases
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Customizing ClinGen’s Variant Curation Interface
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Development Of The First Chinese Community Health Worker Certification Program On Family Health History-based Cancer Prevention In Texas
|
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International Application Of Clinical Actionability Curations: Actionability Working Group In Japan
|
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Improving Access To Genetic Services For The Medically Underserved: System-wide Performance Measure Data From The National Coordinating Center For The Seven Regional Genetics Networks
|
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Best Practices And Considerations In Implementing Population Genomics Programs Based On Multiple Large-scale Initiatives- From Enrollment To Clinical-grade Return Of Results
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Population Approach To Implementation Of Genomics Into Primary Care: DNA-10K Initiative
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Identifying Gaps In Access To Research In Patients With Rare Diseases Using A Real-World Data Platform
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TTR as a Model for Genomic Medicine Implementation in African and Hispanic/Latino Ancestry Populations
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Genetic Services Utilization By Primary Care Physicians In The US
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Engaging Patients To Improve Optimal CYP2C19 Test Utilization In Patient Care
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Patient-driven Genetic Test Orders: An Investigation Of Their Clinical Impact
|
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Scaling Patient/community Engagement At The Consortium Level: Personal Connections On A Broader Scale
|
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Germline Mutation Prevalence Among Latin American And Us Hispanics Undergoing Testing For Hereditary Breast And Ovarian Cancer
|
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Willingness To Pay As An Indicator Of Perceived Utility For Whole Genome Sequencing
|
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Updates From A New, Multi-disciplinary Clinical Model Searching For Rare And Novel Genetic Disorders Of Immune Dysregulation
|
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Facilitating Rare Genetic Disease Research: Methods For CDE Development To Improve Interoperability And Usability Of Genomic And Phenotypic Datasets
|
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The Rare Disease Institute Telemedicine Experience
|
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Preventive Genetic Testing In Primary Care: Experiences Of Patients Participating In The DNA-10K Initiative
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Adult Cancer Patients’ Experiences With Uncertainty When Making Decisions About Learning Secondary Findings From Genomic Sequencing
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Assessing Referral Of Plain Community Members For Genetic Services At UPMC Children’s Hospital Of Pittsburgh: A Quality Improvement Study
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The Advanced Nurse Practitioner In The Medical Genetics Care Team: Emerging Concepts For Training And Integration
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Deployment Of Expanded Familial Hypercholesterolemia Genetic Testing In An Academic Health System
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Do Family Health History Interviews Influence College Students’ Perceived Risk For Disease And Intent To Engage In Preventive Behaviors?
|
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Delivering Population Genomics To Transgender And Non-binary Individuals
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The Effectiveness Of The FHH-based CRC Prevention Workshops Among Chinese Americans
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The Benefits Of A Full-time Inpatient Genetic Counselor: The Experience Of One Center’S High Volume Genetics And Metabolism Service
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Development Of A Novel, Multidisciplinary Preventive Genomics Clinic
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The Inter-departmental Genetic Counseling Program: A New Model To Provide Genetic Counseling Services At Columbia University Irving Medical Center
|
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Design And Implementation Of A Novel Follow-up Program For Infants With Genetic Syndromes
|
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Psychosocial Response After Receiving Genetic Results From A Biobank
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Penetrance Of Hypertrophic Cardiomyopathy During Childhood: Estimates From The Preempt Model
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ACTN3 R577X And ACE I/D Increases Muscle Strength During A 4-week Training Period In Japanese.
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Minimizing the Impact of Health Disparities in Pharmacogenomics: An Assessment of Broad Variant Coverage in CYP2C9 Using Losartan and Diclofenac
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Mapping The Diverse Genetic Disorders And Rare Diseases Among The Syrian Population: Implications On Refugee Health And Health Services In Host Countries
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Wgs Sequencing At Scale: Experiences From A National Genome Sequencing Project
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Diversifying Our Genomic Databases: Ethnically Diverse Populations’ Perspectives
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Parental Perception Of Perceived Emotional Qol Of Their Child With Cerebral Palsy And The Impact Of The Presence Of A Family Dog
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Assessing The Pathogenicity Of Mitochondrial DNA Variants Using A Novel Database Of 195,000 Unrelated Individuals
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Combinatorial Testing Using Ngs And Biochemical Markers Improves The Diagnostic Yield Of Limb-girdle Muscular Dystrophies And Lysosomal Storage Disorders: The Lantern Project
|
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Improving Identification Of Disease-causing Mutations By Automatically Matching Patient's Facial Images - Current Results Of GestaltMatch
|
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SouthSeq: Sequencing NICU Newborns In The South
|
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Assessing The Strength Of Evidence For Genes Implicated In The Leigh Syndrome Spectrum Using The Clingen Clinical Validity Framework
|
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Onasemnogene Abeparvovec-xioi Gene Therapy In Presymptomatic Spinal Muscular Atrophy: SPR1NT Study Update
|
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The Himera Dwarf: Bioarcheological And Genetic Analyses Of An Ancient Adult Greek Skeleton With Achondroplasia
|
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Three-tier Algorithm With Complete CFTR Gene Sequencing Improves Cystic Fibrosis Newborn Screening In New York State
|
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Rates And Characteristics Of Incidental Findings Drawn From Panel Sequencing Of 21,915 Emerge Network Participants
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Advancing Genomics Through Data Sharing Enabled By Global Alliance For Genomics And Health Standards
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Systematic Analysis Of Physical Examination Characteristics Of 94 Individuals With Joubert Syndrome: Keys To Suspecting The Diagnosis
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Standardizing The Classification Of Recurrent Copy Number Variants - From Benign To Reduced And High Penetrance Regions
|
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22q11.2 Duplication Syndrome: An Important Cause Of Congenital Anomalies, Medical Conditions, Cognitive Deficits And Behavioral Phenotypes
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Reducing Sanger Confirmation Testing Through False Positive Prediction Algorithms
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A National Randomized Control Trial Of A Novel Online Platform That Generates Customized Health Recommendations For Patients With Down Syndrome
|
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Assessment Of NIPT Laboratories Offering Cell Free (cf)DNA Screening For Down Syndrome: A CAP Educational Exercise
|
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Phenotype-driven Blood-biomarker And Muscle Functional Genomics Significantly Increase Neuromuscular Disease Diagnosis Of >400 Patients By Resolving VUSs And Multi-Gene Inheritance
|
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Are Genotyping Arrays Suitable For Returning Clinically Actionable Variants In A Large Biobank Population? Findings From The Partners Healthcare Biobank
|
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Recognition Of Distinct Facial Morphology In Youth With Congenital Adrenal Hyperplasia Via Machine Learning Techniques
|
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Precision Medicine: Integration Of Next-generation Phenotyping Improves Efficiency In Clinical Exome And Genome Analysis
|
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Growth In Patients With Attenuated Mucopolysaccharidosis Type I Treated With Laronidase Enzyme Replacement Therapy
|
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Decipher Exome-based Limitations For ADPKD Diagnosis
|
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Under Recognition Of The Disease Burden Of Hereditary Hemochromatosis: A Population Screening Study
|
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Reanalysis Of Negative Clinical Exomes: Reciprocity Between Research And Clinic To Find Diagnoses
|
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Pegunigalsidase Alfa, Pegylated α-galactosidase-a Enzyme In Development For The Treatment Of Fabry Disease, Shows Clearance Of Renal Gb3 And Plasma Lyso-gb3 Levels
|
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Reactive Gene Curation To Support A Clinical Whole Genome Sequencing Test
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Contributing To Gene-disease Discovery Through GenomeConnect, ClinGen’s Online Patient Registry
|
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Clinvar Provides Notification Alerts For Changes In The Overall Interpretation Of A Variant
|
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Using Data From Emerge Iii And Clinvar To Estimate The Workload Placed On Clinical Genomic Reporting By Variant Reanalysis Activities
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Getting To The Root Cause Of A Phenotype Using Optical Mapping In A Patient With A Complex Balanced Chromosome Rearrangement
|
|
Effect Of Sapropterin Dihydrochloride On IQ Preservation In Children (Aged 0-6 Years) With Phenylketonuria
|
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Diagnostic Yield And Clinical Utility Of Genetic Testing In Children With Seizure Onset After Two Years Of Age
|
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Cystic Lung Disease In Proteus Syndrome: Clinical Findings And Outcomes Among 39 Individuals
|
|
Long-read, Low-pass Sequencing Of Patients With Neurologic Disease Identifies Structural Variant Breakpoints In Non-coding Sequence Missed By Conventional Methods
|
|
Creating A Polygenic Risk Score (prs) Reporting Standards Framework And Polygenic Score (pgs) Catalog To Improve Validation And Interpretation
|
|
An Atypical 430kb Deletion At 7q11.23 In A Three Generation Family With Williams-beuren Syndrome Provides New Insight Into Critical Regions
|
|
Systemic Gene Transfer with rAAVrh74.MHCK7.micro-dystrophin in Patients with Duchenne Muscular Dystrophy
|
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Utilizing Advanced Genomic Technologies To Identify Dual Diagnoses
|
|
Prevalence Of RFC1-mediated Spinocerebellar Ataxia In A North American Cohort Of Ataxia Patients
|
|
Reanalysis of Variants in Actionable Genes Identified From Sequencing 10,500 Participants in eMERGE Phase III
|
|
Expecting The Unexpected: Cardiovascular And Hereditary Cancer Findings In An Employer-sponsored Genetic Testing Program
|
|
Avoiding The Phenotypic Trap: Disparate Phenotypes Arising From Seemingly Well-known Genes May Lead To Missed Diagnoses
|
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Clinical Utility Of Genomic Testing: A Measurement Toolkit
|
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Clinvar Classification Discrepancies In The CFTR Gene Can Be Reduced By Providing Disease Association And Text Interpretations
|
|
Genome-wide Associations For Age-related Macular Degeneration In The Sarcoglycan-sarcospan Protein Complex
|
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Comparative Analysis Of Smash Vs Cma For Detection Of Copy Number Variants
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Modeling Loss Of Exosc5 Function In Zebrafish Demonstrates Abnormal Brain Morphology
|
|
Harmonizing Variant Classification For The All Of Us Research Program Shows Less Than 1% Initial Difference Between Reporting Centers
|
|
The Benefit Of Newborn Screening In CRIM-negative Infantile Pompe Disease: A New Clinical Phenotype Enabled By Early Treatment
|
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The Gene New Deal: What Can Save Us From The Rising Tide Of WGS?
|
|
Incidence Of Mental Health Disorders And Behavioral Complications In A Large Cohort Of Teenagers With 47,XXY (Klinefelter Syndrome)
|
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Use Of NLP-based Phenome Extraction From The EMR To Aid Genomic Testing Interpretation
|
|
The Training Of Future Medical Geneticists: Evaluation And Reflection On The ACMGF Summer Genetics Scholars Program
|
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Creating An Open-source Gene Curation Database From The Gene Curation Coalition (GenCC)
|
|
Clinical, Scientific And Ethical Reflections On Personalized Medicine For Orphan Genetic Illnesses
|
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Beyond Variant Interpretation- Variability In Clinical Genetic Testing
|
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HMI-202: Investigational Gene Therapy For Treatment Of Metachromatic Leukodystrophy (mld)
|
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Diagnostic Yield And Overall Experience With A Congenital Diarrhea Panel
|
|
Harnessing The Potential Of Genomic Medicine: Exploring The Frequency Of Updates To Medical Management Guidelines And Challenges Of Re-contacting Patients
|
|
Exome Reanalysis Results In An 8% Reclassification Rate
|
|
DACT1 As A Genetic Etiology For Recurrent Syndromic Myelomeningocele In One Family
|
|
Identification Of A Cryptic Inversion Disrupting BMPR2 In A Family With Severe Pulmonary Arterial Hypertension
|
|
Modeling Complex Inheritance In Congenital Heart Disease:searching For Answers In Unique Human Populations AndDrosophila Functional Studies
|
|
Data Sharing To Improve Concordance In Variant Interpretation Across Laboratories: Results From The Canadian Open Genetics Repository
|
|
Natural History Study Of Adults With Wolf-Hirschhorn Syndrome Using Case Series And Patient-reported Outcomes Methodologies
|
|
Predicting Chronic Pain In Sickle Cell Disease: A Network-assisted Polygenic Model
|
|
Quantifying And Modelling The Effet-size Of CNVs On General Intelligence: A Model Including Estimation For Extreme Neurodevelopmental Genes
|
|
Clingen Linked Data Hub: Scalable Infrastructure For Aggregation And Sharing Of Diverse Types Of Variant Information To Support Variant Pathogenicity Assessment
|
|
Dietary Intakes And Adverse Events In Pegvaliase-treated Phenylketonuria Adults Who Had Low Blood Phenylalanine Concentrations
|
|
Insights Derived From The First 500+ Clinical Cases Run Utilizing Low Pass Genome Sequencing As An Alternative To Traditional Microarray
|
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Phase 3 PRISM Studies: Efficacy And Safety Of Pegvaliase In Patients Aged 16 And 17 Years With Phenylketonuria
|
|
Newborn Screening Second Tier Molecular Testing For Lysosomal Storage Diseases And X-linked Adrenoleukodystrophy Is Critical For Identifying True Positives
|
|
Safety, Tolerability And Preliminary Evidence Of Biopotency In Transpher B, A Multicenter, Single-dose, Phase 1/2 Clinical Trial Of ABO-101 Gene Therapy For Sanfilippo Syndrome Type B (mucopolysaccharidosis IIIB)
|
|
Successful Application Of Genome Sequencing In A Diagnostic Setting: 1,007 Cases From A Heterogeneous Diagnostic Cohort
|
|
BCL11A-related Intellectual Disability
|
|
Low Prevalence Of Pathogenic Or Likely Pathogenic Variants In A Cohort Evaluated For Genetic Causes Of Atypical Hemolytic Uremic Syndrome
|
|
Real-world Clinical Profiles Of Children And Adults With Hypophosphatasia (HPP) From The Global HPP Registry
|
|
Assessing Clinical Risk For Variants Of Uncertain Significance Using A National Biobank
|
|
Phase 3 PRISM Studies: Update Of Efficacy And Safety Of Pegvaliase For The Treatment Of Adults With Phenylketonuria
|
|
Amelie 3.0: Continuous Automatic Monogenic Patient Reanalysis Realized And The Future Of Fee For Service
|
|
Genotype-Phenotype Correlations Among Rubinstein-taybi Syndrome Patients In Diverse Populations
|
|
Neurological Co-morbidities Influence The Diagnostic Rate Of A Sequencing Test Of 2300+ Genes Associated With Autism Spectrum Disorders And/or Intellectual Disability
|
|
The Clinical Significance Of Mobile Genetic Elements In Monogenic Disorders As Assessed By Whole Genome Sequencing
|
|
Clinical Whole Genome Sequencing In >250 Diverse Children From New York City - The Nyckidseq Experience
|
|
Clinical And Genomic Characterization Of 8p Rearrangement Disorders Invdupdel(8p), Del(8p), And Dup(8p)
|
|
A Rare Phenomenon: Double Trisomy Rescue Detected During Clinical SNP Microarray Testing
|
|
Molecular Diagnoses Of Infants Not Evaluated By Clinical Genetics Prior To Rapid Genomic Sequencing In The NICU/PICU
|
|
Individual With Unique Features Of 49,xxxyy Syndrome Whose Prenatal Cell-free Dna Screening Predicted 47,xxy
|
|
Neurofibromatosis 2 In Phelan-McDermid Syndrome: Results Of Nationwide Questionnaire
|
|
Strong Evidence That A Causal Variant Is Discovered By A Sequencing Workflow: Proband Vs Sibling Differential Variant Count
|
|
X-linked Intellectual Disability: Phenotypic Expression In Carrier Females
|
|
Parental-Proband Genome Alignment Using Variation Graph Alignment Techniques
|
|
Exome Sequencing Results At Nationwide Children's Hospital And Influence On Medical Management
|
|
Interpretation Challenges Of A Novel POLR3A SNV Leading To A Missense Change As Well As Multiple Splicing Alterations Causing POLR3A-related Hereditary Spastic Ataxia
|
|
Sex Differences In Response To Opioids Are Related To CYP2D6 Metabolism
|
|
The Value Of Variant Reclassification In A Routine Diagnostic Setting For A Heterogeneous Patient Population
|
|
The Comorbidity Of Congenital Heart Defects And Holoprosencephaly
|
|
Direct Effects Of Inbreeding: Increased Burden Of Rare Genetic Disorders In Indian Sub-continent
|
|
Top 99 Genetic Causes Of Developmental Delay
|
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An Effective Combination Of Next Generation Sequencing And Confirmatory Sanger Sequencing For Molecular Genetic Diagnosis - The GGC Experience
|
|
Long-term Safety And Efficacy Of Vestronidase Alfa, Rhgus Enzyme Replacement Therapy, In Subjects With Mucopolysaccharidosis VII
|
|
A Novel Frameshift Mutation Of SPTAN1Identified In A Boy With Epilepsy, Hypotonia, And Developmental Delay
|
|
Tnf-αInhibition In The Management Of Adenosine Deaminase 2 Deficiency (dada2): Insights From A Longitudinal Cohort Study
|
|
Employing The Refined ClinGen Guidelines Improves Hearing Loss Clinical Diagnosis
|
|
Use Of Karyotypes In The Diagnosis Of Phelan-McDermid Syndrome: Prevalence And Implications
|
|
Reevaluation Of Copy Number Variant Classifications In The Clinical Laboratory Setting: Challenges, Insights, And Experiences With A Laboratory-Initiated Process
|
|
Long-term Efficacy And Safety Of Oral Eliglustat In Treatment-Naive Patients With Gaucher Disease Type 1 In The Phase 3 ENGAGE Trial: Outcomes After 4.5 Years And Individual Patient Responses
|
|
Incorporation Of Ancestry Calling In Expanded Carrier Screening To Improve Accuracy Of Residual Risks
|
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The Clinical Utility And Financial Impact Of Rare Genetic Diagnoses
|
|
Diagnostic Yield Of Genetic Testing Patients With Clinical Suspicion Of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
|
|
Genetic Causes Of Autism Spectrum Disorders (ASD): Diagnostic Yield In An Academic Medical Genetics Center
|
|
Integration Of Whole-genome Bisulphite Sequencing And Single Cell Analysis Lead To Diagnosis Among Patients With Negative Clinical Exomes.
|
|
Mosaic Y-chromosome Containing 45,X Patients: Phenotypic Update And New Proposed Care Guidelines
|
|
ATXN8: The Conclusion Of A Diagnostic Odyssey In A Family With Episodic Ataxia
|
|
Transpher A, A Multicenter, Single-dose, Phase 1/2 Clinical Trial Of ABO-102, An Intravenous AAV9-based Gene Therapy For Sanfilippo Syndrome Type A (mucopolysaccharidosis IIIA)
|
|
Rigorous Optimization And Performance Assessment Of Wgs Methodologies Using Syndip And All 7 Giab Reference Standards
|
|
Understanding The Impact Of The Genotype On The Entire Spectrum Of Congenital Abnormalities And Cancer In Fanconi Anemia
|
|
The Long And Short Of It; NIPT Detection Of CNVs 7mb
|
|
Unexplained Regression In Down Syndrome: 35 Cases From An International Down Syndrome Database
|
|
Molecular Diagnosis Of Somatic Overgrowth And Vascular Disorders Using Ultra-deep Sequencing
|
|
Gene-specific Variant Interpretation Guidelines In GCK, HNF1A, And HNF4A: Update From The ClinGen Monogenic Diabetes Expert Panel
|
|
Selection, Design And Evaluation Of A Customized Next Generation Sequencing Panel For Congenital Nephrotic Syndrome Using Clingen Gene Disease Curation Framework
|
|
Loss of Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
|
|
Crispants For The Clinic: Rapid Functional Testing Of Patient Variants In Zebrafish
|
|
Newborn Screening For Pompe Disease In The Us: Early Findings From The Pompe Registry
|
|
Automating Reanalysis Of Unsolved Exome Cases Using A Machine Learning Model
|
|
Specification Of The ACMG/AMP Sequence Variant Interpretation Guidelines In The Context Of Multiple Disease Subtypes And Inheritance Patterns
|
|
Clinical Characteristics Of Epilepsy Patients Who Yield A Genetic Diagnosis Through Whole Exome Sequencing
|
|
Practical Applications Of Rna Genetic Testing For Variant Detection And Interpretation: A Case Series
|
|
Expanding The Spectrum Of CEP55-Associated Disease To Viable Phenotypes
|
|
Genetic Testing For Hypertriglyceridemia - Pilot Data From A Single Center Lipid Clinic
|
|
Establishing A Framework For Gene Curation To Generate A Medical Exome In Diagnostics And Screening
|
|
Genomic Sequencing In Infants With Early-onset Hearing Loss: Results From The NC Nexus Project
|
|
What Are Differences Of Relationship Between Molecular Cytogenetic Abnormality And Clinical Presentation In Consecutive Patients With Multiple Myeloma Between African Americans And European Americans?
|
|
De Novo Missense Variants In LMBRD2: Association With Developmental And Motor Delays, Brain Structure Abnormalities, And Dysmorphic Features
|
|
Whole Genome Sequencing Improves Clinical Diagnosis In Patients With A Suspected Genetic Disorder(s): Diagnostic Yield From 284 Cases
|
|
Potential Life-saving Treatment For Tango2 Associated Lethal Cardiac Arrhythmias
|
|
Challenges Of Interpreting Autosomal Recessive And Dominant Variants Of Mitochondrial Dna Polymerase γ
|
|
PLXND1 And REV3L Are Not Common Causes Of Moebius Syndrome
|
|
Somatic Hotspot Variants As Incidental Findings In Exome Sequencing: Report Or Not Report?
|
|
Ascertainment And Characterization Of Patients With Marfan Syndrome In A Large Managed Healthcare Organization Using An Electronic Medical Record System
|
|
Extreme Genomic Endophenotypes Among Unsolved Pediatric Rare Disease: Clues To Innocuous Disease Variation
|
|
Community Developed Platform For Variant Filtering And Interpretation
|
|
Genetic Testing Utility And Variant Reclassification For Hattr Amyloidosis Through A Sponsored Testing Program
|
|
Toward The Standardization Of Structural Biology Scores For Genomic Interpretation Of Genomic Variants As Applied To Raasopathies
|
|
The Importance Of Genetics Experts In Optimizing Genetic Test Orders Through Prospective And Retrospective Review
|
|
In-vivo Modeling Of Human Clinical Variants: Whole-gene Humanization Of C. Elegans Animal Models For Functional Analysis Of Genetic Variants
|
|
Phenotypic Variability Of A Familial 6q21q23.2 Duplication In Three Carriers
|
|
CNKSR2-associated Disease - Identification Of A Case And Collection Of A Large Cohort Providing Insights Into The Neurodevelopmental And Mutational Spectrum
|
|
Computational Prediction Thresholds For The Curation Of Missense Variants - Insights From The ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel
|
|
Likelihood Of Finding A Variant Of Uncertain Significance During Clinical Genetic Testing In An Underrepresented South Asian Population: Experience From Pakistan
|
|
Whole Genome And RNA Sequencing Of Inclusion Body Myositis Occurring In First-degree Relatives
|
|
Clinical Characterization Of The Craniofacial Features Of 3q29 Deletion Syndrome And Application Of Next Generation Phenotyping Technology
|
|
Prenatal SNP Microarray Analysis Of Over 60,000 Patients: Implications, Importance And Intriguing Findings
|
|
Genome Sequencing Provides Insights Into Balanced Translocations Resulting In Prader-Willi Syndrome (PWS)
|
|
Leveraging Genotype Probability To Improve Clinical Polygenic Risk Score Categorization In 80,000 Exome+ Sequenced Individuals
|
|
The Experiences And Support Needs Of Siblings Who Have Brothers And Sisters With Mucopolysaccharidoses (MPS)
|
|
Gene-swap Humanized Animal Model As A Precision Medicine Approach To Detecting Pathogenicity In Clinical Variants
|
|
Proposal Of Fragile X Testing As A Second-line Investigation In Neurodevelopmental Disorders
|
|
Old Standards Meet New Technologies: Cystic Fibrosis Carrier Screening Via Next-generation Sequencing As The Best Practice For Pan-ethnic Screening
|
|
At The Heart Of Clinical Utility: Comprehensive Multigene Panel Testing In Pediatric Patients With Hypertrophic Cardiomyopathy
|
|
Non-mosaic Hexasomy 15q11.1q13.1 Resulting From Two Additional Copies Of A Maternally-derived Isodicentric Chromosome 15
|
|
Novel FAM177A1 Variants Cause Macrocephaly, Developmental Delay, and Intellectual Disability in Eight Individuals
|
|
Identification Of Clinically-Relevant Sequence Variants Within The Human Reference Genome
|
|
Demonstration Of The Variability In Bosch-Boonstra-Schaaf Optic Atrophy Syndrome: A Learning Curve And Subsequent Change In Clinical Practice
|
|
Large Gene Conversion Events Are Rare In The PKD1 Gene For Autosomal Dominant Polycystic Kidney Disease (ADPKD)
|
|
Rapid Whole Exome Sequencing In A Pediatric Intensive Care Unit
|
|
De Novo CHD2 Frameshift Variant With Complex Minor Allele Frequency Data And Conflicting Clinvar Classifications
|
|
Complex Phenotypes Due To Two Or More Genetic Diagnoses: A Case Series
|
|
Identification Of An Alu Insertion In MSH2 By Next-Generation Sequencing In A Family With Lynch Syndrome: An 8-year Diagnostic Odyssey
|
|
Alternative Transcripts With Disease Relevance: What Are We Missing?
|
|
Identification Of Disease Variants In Pediatric Rare Disease Patients With Negative Clinical Exomes
|
|
Understanding the Role of Gene Dosage in Congenital Abdominal Wall Defects
|
|
Whole Genome Sequencing For ACMG Secondary Findings, Carrier Status For Select Autosomal Recessive Disease Genes, And Specific Pharmacogenomics Variants: The New York Genome Experience
|
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Phenotype Expansion of Heterozygous FOXC1 Pathogenic Variants towards Involvement of CAKUT
|
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Genetic Testing Utilization Management: Saving Time, Saving Money, And Maximizing Clinical Utility For Patients-a Commercial Lab Experiengenetic Testing Utilization Management: Saving Time, Saving Money, And Maximizing Clinical Utility For Patients
|
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Perspectives Of Consumer Initiated Testing To Increase Access To Genetic Testing In Neurodevelopmental Disorders
|
|
Clinical Application Of PacBio Sequencing In Undiagnosed Probands With A Suspected Neurodevelopmental Disorder
|
|
Phase 3 PRISM Studies: Efficacy And Safety Of Pegvaliase 60 Mg Dose In Adult Patients With Phenylketonuria
|
|
Copy Number Alterations Involving 59 ACMG Recommended Secondary Findings Genes
|
|
Lifetime Impact Of Achondroplasia On Health-related Quality Of Life (HR-QoL) And Healthcare Resource Use: Interim Results From A Multinational Study
|
|
Development Of A Novel Comprehensive Familial Hypercholesterolemia Sequencing Panel For Dried Blood Spot Specimens
|
|
Robust Heteroplasmic Mitochondrial Variant Calling Workflow For Rapid Whole-Genome Sequencing
|
|
Evaluating Quality Of Variant Interpretation And Reporting By Clinical Reference Laboratories - No One Is Perfect
|
|
Growth Charts For Individuals With Coffin-Siris Syndrome
|
|
Another Patient With The Recurrent PPP1CB Pathogenic Variant And Noonan Syndrome Features: Recommendation For Addition Of PPP1CB To RASopathy Panels
|
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Epilepsy And Electrographic Abnormalities In Patients With SATB2-associated Syndrome
|
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Clinical, Cytogenetic And Molecular Characterization Of A Paternally Inherited Deletion Of NLGN4X In A Female With Autism Spectrum Disorder
|
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Improving The Diagnostic Yield In Patients Suspected For Primary Immunodeficiency
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Nf1 Gene Deletion Size And Associated Clinical Presentations In Neurofibromatosis Type 1
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Systemic Gene Transfer With Raavrh74.mhck7.sgcb Increased β-sarcoglycan Expression In Patients With Limb Girdle Muscular Dystrophy Type 2e
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Managing Patient-directed Test Requests: Trends In Provider Experience And Use Of Scripts To Support Patient-centered, Evidence-based Care
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A Novel De Novo Copy Number Variant Causes HNRNPA1-related Multisystem Proteinopathy: Case Report And Molecular Profile
|
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Diagnostic Exome Sequencing In Adults With Neurological Disorders
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Concordance Of Clinical Geneticist Differential Diagnoses And Molecular Diagnosis By Rapid Genomic Sequencing In The NICU/PICU
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Next Generation Genotyping (NGG) For Population Scale Genomic Studies Using Riptide™ Dna Library Preparation
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Barriers Exist In Utilization Of Emr Analysis To Identify Patients With Hypophosphatasia, A Rare Disease With A Common Biomarker
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Prenatal Detection Of WGiUPD In A Chimeric Cohort: A Retrospective Review
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Incidence Of Genetic Diagnoses Among Individuals With Valvar Pulmonary Stenosis
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Clinical Validation And Diagnostic Rate/Outcomes Of A Dual Molecular Diagnostic Assay For Myotonic Dystrophy 1
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Chedda Syndrome: A Case Report Of A Rare And Newly Described Syndrome
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Novel 47kb Duplication Of 11p15.5 Associated With Russell-silver Syndrome
|
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Proactive Reanalysis Strategy Of Clinical Whole Genome Data Aims To Increase Diagnostic Yield And Update Clinical Significance Of Previously Reported Variants
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Incidental Finding By Carrier Screen: When Carrier Testing Leads To Possible Diagnosis
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Accuracy And Reproducibility Of Sanger Confirmed Variants With Helix Exome+ NGS Data
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High Resolution Analysis Of D4Z4 Repeat Regions For Studying Facioscapulohumeral Muscular Dystrophy (FSHD) Using Whole Genome Optical Mapping
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Clinical And Epidemiological Analysis Of The Association Between Congenital Abnormalities And Neurocognitive Disorders
|
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Evidence Of 10q11.22-q11.23 Duplications As A Risk Factor For Neurodevelopmental Disorders
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Mimics Of Neurodegeneration With Brain Iron Accumulation: The Diagnostic Experience Of An International Consultation Service
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Predictive Genetic Screening Of Healthy Individuals: Case Study Of Rheumatoid Arthritis Drug Response And Toxicity
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Multimethod Analysis Of Chromosome Structural Variations In Congenital Diaphragmatic Hernia.
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Deficiency In The Endocytic Adaptor Protein Pheta1/2 Impairs Renal And Craniofacial Development
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Exome Sequencing In A Diverse Pediatric Population: Interim Findings From The UCSF P3EGs Project
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The Clinical Utility Of Detecting Copy Number Variants Via Next-Generation Sequencing
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Duchenne Muscular Dystrophy In The Era Of Genetic Therapies: Saving Lives Through Early Diagnosis And Treatment Using Nationwide Newborn Screening
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Diagnostic Findings Of A 28-gene NGS Panel For Vitamin B12 Metabolism-related Disorders
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Advancing Translational Genomics In The Clinic: Targeted Rapid Mouse Modeling To Solve Variant Saga And Guide Medical Management
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Intrafamilial Variability And Phenotypic Expansion Of Kohlschutter-Tonz Syndrome Due To Biallelic SLC13A5 Variants
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The Spectrum Of Features In Males And Females With Mosaic 45,x/46,xy
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Classical Hodgkin Lymphoma with t(11;14) and Shared Cytogenetic Aberrations with Mantle Cell Lymphoma: A Case Report with Clone Evolution and Pathway Analysis
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Evaluating Cognitive And Adaptive Outcomes In Fragile X Syndrome Across The Lifespan: Results From The Cdc Fragile X Forward Component C Project
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Identical Twins With Non-identical SNP Microarray Profiles: Potential Applications
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Targeted Genetic Analysis In A Chinese Cohort Of 208 Patients Related To Familialhypercholesterolemia
|
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Gene-specific Artificial Intelligence-based Variant Classification Engine: Results Of A Time-capsule Experiment
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Long-term Efficacy And Safety Of Vestronidase Alfa Enzyme Replacement Therapy In Subjects With Mucopolysaccharidosis VII <5 Years Old
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3q27.1 Microdeletion Causes A Clinically Recognizable Syndrome Characterized By Severe Prenatal And Postnatal Growth Restriction And Neurodevelopmental Abnormalities
|
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Phenotypic Variation In Multiple Congenital Anomalies-hypotonia-seizures Syndrome Type 1 Due To Compound Heterozygous Pign Variants: Case Study Of Three Individuals
|
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Genotype-first Analysis Is An Effective Strategy For Identifying Diagnostic Variants In Known Disease Genes And Candidate Variants In Novel Genes.
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A New Genetic Variant Identified In The GUCY2C Coding Sequence Results In Ion Homeostasis Dysfunction In The GI Epithelium Causing Chronic Diarrhea
|
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Multisite Evaluation Of A Single-tube SMN1/2 PCR/CE Assay System That Assesses Copy Number And Expanded Content For Spinal Muscular Atrophy
|
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Ambiguity In Evaluating Pediatric Patients With Clinical Diagnostic Criteria For Neurofibromatosis Type 1
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Dual Genetic Diagnoses Detected Through Chromosomal Microarrays
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The Clinical And Molecular Spectrum Of Patients With Parenchymal Brain Calcification In The NIH Undiagnosed Diseases Program (UDP) Cohort
|
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Laboratory Genetic Counselors Influence Ordering Practices By Promotion Of Clinical Guidelines
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Hoyerall-Hreidarsson Syndrome: A Rare Severe Monogenic Telomeropathy
|
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Assessing The Secondary Genetic Findings In Patients Carrying The Recurrent 15q11.2 Deletion: A Single Laboratory Experience
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Broadening The Phenotypic Spectrum For De Novo Missense Variants In TRAF7
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Implementation Of Sex Identification And Sample Tracking Into Clinical Genomic Analysis Workflows
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Genotype-phenotype Correlations And Characteristics Of Individuals With Disease-causing Variants In DSP
|
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Re-evaluation And Re-classification Of Variants Of Uncertain Significance In Inherited Cardiac Conditions
|
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X-Linked Chondrodysplasia Punctata: Clinical Phenotype, Genetics, And Management
|
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Variable-sized Deletions Of 15q24 Region Detected By Microarray, Exome Sequencing, And Bionano Optical Mapping
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Analytical And Clinical Validation Of A PCR/CE Assay System For The Diagnosis Of Fragile X Syndrome And Carrier Screening
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Characterization Of Copy Number Variants Detected By Exon Deletion/duplication And Traditional Microarray Analysis As An Adjunct To NGS Testing
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Renal Genetics Program: Cleveland Clinic Experience
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Comprehensive Genomic Testing Of Meiotic Genes Mutations In Primary Spermatogenic Failure
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Phenotypic Variability Of Retinal Dystrophy Patients Homozygous For A Common Pathogenic BBS1 Variant
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Novel Silent Variant In Cltc Is Associated With Global Developmental Delay And Severe Seizures
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Histological Characterization Of A Patient With Glycogen Storage Disorder Type IV Missed By Whole-exome Sequencing: Challenges Of Phenotype Prediction
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Chromosomal Microarray And Whole Exome Sequencing In An Unselected Population Of Individuals With Neurodevelopmental Disorders
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Gastric And Breast Cancers In A Large Pedigree With Blepharo-cheilo-dontic Syndrome Due To A Novel Cdh1 Mutation
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Crispr-mediated Depletion Of Ribosomal RNA-derived DNA From RNA-seq NGS Libraries
|
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Novel Ocular Findings In Dyggve-Melchior-Clausen Syndrome
|
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Assessing The Positivity Rate Of Carriers Of Lysosomal Storage Disorders With Treatment Benefits
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Comparison of Variant Callers on Whole Exome Sequencing Using Gatk and Deepvariant
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A Rare Case Of Liveborn Mosaic Trisomy 12 With Severe Congenital Heart Disease
|
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Association Between Maternal Diabetes And Birth Defects Impacted By Maternal Obesity, National Birth Defects Prevention Study, 1997-2011
|
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Interpreting The Clinical Significance Of Intragenic Copy Number Variation In Methyl-CpG-binding Protein Domain 5 (MBD5)
|
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Precision Diagnosis Of Persistent Isolated Microscopic Hematuria In Children
|
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Winding Path To Diagnosis: Challenges Of Global Developmental Delay
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New Insights Into Perinatal Features Of Kabuki Syndrome: Lessons Learned From Infants Diagnosed By Neonatal Exome Or Genome Sequencing
|
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Hydrocephaly Associated With Compound Heterozygous Alterations In TRAPPC12
|
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Niemann-Pick Type A Presenting As Feeding Challenges And Failure To Thrive
|
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Exome Testing Improves Diagnosis in Case if Individual Presenting with Overgrowth and Global Developmental Delay Carrying a 22q11.2 Proximal Duplication
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Review Of The Neurodevelopmental Reflex Testing In Patients With Neurodevelopmental Disorders At Cchmc
|
|
A 1.5 Mb Deletion Within 7p22.3 In A Patient With Features Resembling Cornelia De Lange Syndrome
|
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Appropriate Tissue Type For NGS-based Sequencing Is Crucial For Finding A Diagnosis
|
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A Hypomorphic Post Glycophosphatidylinositol (GPI) Attachment To Proteins, Type 2 (PGAP2) Variant Identified In The Index Cases Of Mabry Syndrome
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Development Of A Disease-specific Risk Variant Classification Approach For Pancreatitis
|
|
Complex Carrier Screening Results - Uncovering Affected Individuals And The Need For Genetic Counseling
|
|
Findings From A Case Of Mosaic Genome-wide Paternal Uniparental Isodisomy In A Patient With Beckwith-Wiedemann Syndrome
|
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Fusing The Fields: Integrating Cytogenetic And Molecular Genetic Tests For Diagnosis Of Molar Pregnancies
|
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Mabry Syndrome: The Mirror Of Fryns Syndrome
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A Case Of 13q13.2q34 Deletion Syndrome With High Mosaicism In Blood But A Milder Phenotype
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A Novel Pathogenic Variant Of Arf1 Causes Subependymal Heterotopia And Pierre Robin Sequence
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Assessing Success Of A Quality Improvement Process For Tracking, Reviewing, And Correcting Constitutional Cytogenetic Test Orders In A Reference Laboratory
|
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When Identical Is Not: Monozygotic Male/ Female Twins
|
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Gene Mutations With Copy-neutral Loss Of Heterozygosity (cnLOH) In Myeloproliferative Neoplasms
|
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Growth In Joubert Syndrome: Correlations With Genotype And Hepatorenal Disease In 166 Individuals
|
|
Whole Genome Sequencing Solves Cases That Remained Undiagnosed By Other NGS-Based Tests
|
|
Tenascin X Variation In People With Hypermobility Ehlers Danlos Syndrome: Results From The Heds Gene Study
|
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Testing Reportedly Healthy Individuals For A Panel Of 59 Medically Actionably Genes: Are 59 Genes Enough?
|
|
A Comprehensive Landscape Of Cyp2d6 Variation And Retrospective Analysis Of Drug Dosing In 30,000 Individuals
|
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Rapid Whole-genome Sequencing As A First-tier Test In Patients With Hypotonia Demonstrates A Positive Impact On Patient Management And Outcomes
|
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Prevalence And Clinical Impact Of Pathogenic Variants In Genes Linked To Monogenic Diabetes In The General Population
|
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Early Detection Of Spinal Muscular Atrophy (SMA) By QPCR And NGS
|
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Expanding The 22q Deletion Syndrome Phenotype To Include Progressive Aortic Dilatation
|
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Identification Of A Constitutional T(9;22) That Resembles The Philadelphia Chromosome Translocation - A Case Report And Review Of The Literature
|
|
Exome Sequencing In Pediatric Heart Failure
|
|
Genotype-phenotype Correlation Of 16p11.2 Copy Number Gains And Losses At A Single Institution
|
|
Late-onset Recurrent Meningitis As The Presenting Symptom Of Cryopyrin-Associated Periodic Syndrome (CAPS) Responsive To Anakinra
|
|
High Hyperdiploid Pediatric B-ALL With Cryptic BCR-ABL1 Rearrangement
|
|
Improved Outcomes With Triheptanoin (UX007) In Patients With Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) Treated Via An Expanded Access Program
|
|
The Effect Of Handling Practices On Genomic DNA Quality During NGS Library Preparation
|
|
A Homozygous Deletion In The Down Syndrome Critical Region In A Patient With Hypotonia, Developmental Delay And Cortical Visual Impairment
|
|
Inversion As A Novel Molecular Mechanism Causing Choroideremia
|
|
Update On A No-cost Epilepsy Gene Panel For Seizure Onset Between 2-4 Years Of Age: Results From 682 Tests
|
|
Sponsored Testing Programs: An Emerging Paradigm To Accelerate The Diagnosis And Precision Care Of Individuals With Rare Genetic Disease
|
|
BCAP31-Associated Encephalopathy Presenting As Early Infantile Spastic Paraplegia
|
|
Copy Number Variants Now Supported By The Clingen Allele Registry
|
|
Investigational Gene Therapy Approaches For Phenylketonuria (PKU)
|
|
A Novel Nonsense Igf2 Variant On The Paternal Allele Identified In A Patient With Russell-silver Syndrome
|
|
Higher Dosing Of Alglucosidase Alfa Improves Outcomes In Children With Pompe Disease: A Clinical Study And Review Of The Literature
|
|
Beyond The ACMG 59: A Retrospective Analysis Of Incidental Findings Returned By A Clinical Whole Genome Sequencing Laboratory
|
|
Multiple Mitochondrial Dysfunctions Syndrome Type 2: A Case Report Of Two Affected Siblings With Previously Unreported Survival Into Adulthood
|
|
A New Next-Generation Sequencing (NGS) Assay For Detecting Aberrations In Intellectual Disability And Developmental Delay Samples
|
|
Identification Of Novel Mutation By Whole Exome Sequencing In A Thai Family With Ostropetrosis
|
|
Unbalanced Insertional Translocation Causes NFIA Triplosensitivity Syndrome In Two Patients
|
|
Identification Of Mitochondrial DNA Mutations Associated With Aminoglycoside Induced Ototoxicity In The Cystic Fibrosis Population
|
|
Functional Studies Supporting The Pathogenicity Of Novel DHX30 Missense Variants And Expanding The Phenotypic Spectrum Of Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language (NEDMIAL)
|
|
Whole Genome Sequencing Versus Standard-of-care Genetic Testing In Patients With Suspected Genetic Disorders
|
|
Laboratory Genetic Counselors’ Opinions On Implementing A Standardized Quantitative Framework For Variant Classification
|
|
Biallelic Novel Truncating Variants In ZFHX4 Associated With Multiple Congenital Anomalies And Developmental Delay
|
|
Improved Measurement Of Assay Variation And Limit Of Detection (lod) Of A Ctdna Assay With Validation Samples Contrived With Human Plasma - Comparative Study Of Matrix Effects And Extraction Methods On Assay Sensitivity
|
|
Rapid Genome Sequencing To Guide Clinical Decision Making In Focal Segmental Glomerulosclerosis (FSGS)
|
|
Validation Of Copy Number Variant (CNV) Detection By A Whole Exome Sequencing Platform And Frequency And Characteristics Of CNVs Identified
|
|
Genome-wide Association Analysis Identified Alanine And Aspartate Aminotransferase Signals With Significant Bmi Interaction Effects
|
|
Considerations For Buccal Sampling In The Pediatric Population: Experience From A 30,000+ Patient Cohort
|
|
Toward Precision Medicine In Pediatric Aortopathies: A Tale Of Two Pathogenic Variants Causing Loeys-Dietz Syndrome
|
|
Identifying Covert Barriers To Optimal Genetic Test Utilization: Beyond Order Review And Regulation
|
|
Whole Exome Sequencing Identifies Diagnosis Of Cerebrotendinous Xanthomatosis
|
|
11q13.2q13.4 Deletion In An Individual With Intellectual Disability Adds To The Evidence Supporting Haploinsufficiency Of Shank2
|
|
Neurocognitive Development In Young Adults With 47,XXY (Klinefelter Syndrome) And The Influence Of Familial Learning Disabilities (FLD)
|
|
An Integrated Solution For Clinical Annotation, Prioritization And Classification Of Sequence Variants From Exomes And Whole Genomes
|
|
Distal Myopathy And Myotonia Associated With APik3c3Deletion
|
|
Implementation Of A Whole Exome Sequencing Committee Review Process At A Pediatric Institution
|
|
A Peculiar Case Of A Female With Cerebral X-linked Adrenoleukodystrophy And The Implication For Newborn Screening
|
|
Identification Of A 9kb Homozygous Deletion In Samhd1 In An Ashkenazi Jewish Patient With Aicardi-goutièRes Syndrome
|
|
Clingen Clinical Actionability Curation Tools, Web Services And Knowledge Repository
|
|
Novel Flt4 Variant Identified In A Patient With Tetralogy Of Fallot By Whole Exome Sequencing
|
|
ARID1A and ARID1B Constitutional Mutations in Two Pediatric Patients with Coffin-Siris Syndrome and Cancer
|
|
Development And Clinical Experience With A Cell-Free DNA Monitoring Algorithm For Kidney Retransplants
|
|
Clinical Correlation Of Molecular Diagnoses Via Phenotype-driven Clinical WGS
|
|
Comprehensive Tumor Profiling Reveals Unexpected Constitutional Diagnoses Of Tuberous Sclerosis And Insulin-like Growth Factor 1 Resistance
|
|
Congenital Microgastria-Limb Reduction Association - Case Report And Review Of The Literature
|
|
Novel Case of Distal 5p and Proximal 13q Partial Trisomies in a Female with Congenital Anomalies of Kidney and Urinary Tract
|
|
Long-term Migalastat Treatment Slowed The Decline Of Renal Function In Patients With Fabry Disease And Amenable GLA Variants
|
|
Observations Of Novel Tp53 Frameshift Variants Using The TrusightTm Tumor 170 Assay
|
|
Dual Diagnoses: Clinical Presentation Of Two Individuals With Both Marfan Syndrome And Turner Syndrome
|
|
Automated Structural Variant Classification Using Ai-based Classifier Within The ACMG/AMP Guidelines
|
|
Evaluating Change In Diet With Pegvaliase Treatment In Adults With Phenylketonuria: Results From Phase 2 And 3 Clinical Trials
|
|
De Novo Missense Alterations In KCND2 Lead To A Neurodevelopmental Phenotype That Includes Seizures, Developmental Delay, And Autistic Behaviors
|
|
Novel Off-label Use Of Desipramine In Infantile Neuroaxonal Dystrophy (IND): Targeting The Sphingolipid Metabolism Pathway To Reduce Accumulation Of Ceramide
|
|
Chromosome 1q21 Deletions And Duplications: A 10-year Experience Of A Clinical Genetic Laboratory
|
|
Varbayes: A Computational Tool For Generating Bayesian Probabilities Of Pathogenicity Using The Acmg/amp Guidelines
|
|
The Clinical Utility Of An N-of-1 Patient Study, Exemplified In A Patient With Primary Meningeal Melanoma
|
|
IRF6: A Case Of Variable Expressivity And The Intersection Of Two Syndromes
|
|
Development Of A Clinical Exome Sequencing Assay For High Throughput Diagnostics Of Inherited Disorders
|
|
A Case Report Of Glutaminase Deficiency Caused By Triplet Repeat Expansion In GLS
|
|
Identification Of Two Novel And One Reported Mutations In Three Genes (kdm5c, Brwd3, And Shank2) Implicated In Intellectual Disability
|
|
A Novel Association Between An X-linked Gene And ASD/ADHD In Males
|
|
Addition Of Repeat Expansion Testing With Ataxia NGS Panels Provides Significant Diagnostic Benefit
|
|
Kpna1: A Candidate Gene For Neurodevelopmental Problems Including Autistic Features And Severe Anxiety
|
|
Optimization Of A Germline Copy Number Variant (cnv) Calling Pipeline Based On Targeted Exome Sequencing To Identify Clinically Relevant CNVs
|
|
The Genetics Spectrum Of Multiple Congenital Structural Anomalies Of Infants In Pediatric Clinic Detected By Next Generation Sequencing
|
|
EpiSign In Review: A Report Of Clinical Experience From The Implementation Of A Genome-Wide Methylation Assay
|
|
Mortality In Microcephalic Osteodysplastic Primordial Dwarfism Type II
|
|
Allele Frequency Of Pathogenic Clinvar Variants In The Exac Database
|
|
Autism Spectrum Disorders In Duchenne Muscular Dystrophy Patients: Not Just A Coincidence
|
|
Co-occurance Of Sex Chromosome Aneuploidy And Trisomy 13 In A Live-born Neonate
|
|
Broad Molecular And Phenotypic Diversity In PPP3CA-Associated Diseases
|
|
Expanding The Phenotype Associated With Bgn: Report Of A Novel, Leu276arg, Variant In A Patient With Severe Early-onset Aortic Aneurysm
|
|
ITFG2-related Disorder: Novel Syndrome Of Intellectual Disability, Macrocephaly, Skeletal Defects And Epilepsy
|
|
Clinical Severity In Fanconi Anemia Appears To Correlate With Residual Function Of Fancb Missense Variants
|
|
Loss-of-function of POLR3GL in a Variant of Neonatal Progeroid Syndrome, or Wiedemann-Rautenstrauch Syndrome
|
|
Aphallia In A Male Infant With BRWD3-related Disorder
|
|
Further Expansion And Confirmation Of Phenotype In Rare MBOAT7 Gene Defect
|
|
Expansion Of The Phenotype Of MECP2-related Disorders To Include Males With Infantile Spasms
|
|
Two New Reported Cases Of 16q22.1q23.1 Duplication Syndrome Highlight Intrafamilial Variability And Potential Sex Expression Differences Within A Rare Duplication Syndrome
|
|
Marfan Syndrome With A HomozygousFbn1Mutation Presenting A Complex Phenotype Resembling Loeys-dietz Syndrome
|
|
Additional Cases OfJMJD1CDe NovoVariants In Patients With Developmental Delays And Intellectual Disability
|
|
Whole-body Mri In Late-onset Pompe Disease: Clinical Utility And Correlation With Functional Measures
|
|
Partial Tetrasomy 6q: Case Report And Review Of Disease Spectrum
|
|
Homozygous Mutation Of SYNJ1 In An Afro-caribbean Individual Causing Early Infantile Epileptic Encephalopathy 53
|
|
Transcript Analysis And Variant Resolution In A Child With Primary Ciliary Dyskinesia
|
|
Whole Exome Sequencing Of An Unselected Population Of Individuals With Cerebral Palsy
|
|
Dual Diagnosis of SMN1 and TBC1D23 Variants: A Case of Spinal Muscular Atrophy and Pontocerebellar Hypoplasia 11
|
|
Chromosomal Microarray In The Evaluation Of Patients With Intellectual Disability In A Developing Country: The Need For Careful Phenotyping To Increase The Diagnostic Yield
|
|
Neonatal Screening For Inherited Metabolic Disorders By Tandem Mass Spectrometry And Clinical Exon Sequencing In Northwest Area In China
|
|
Lysine Acetyltransferase 6b (Kat6b) Gene Copy Number Loss: A Likely Pathogenic Variant In 2 Patients With Failure To Grow And Speech Delay
|
|
The Diagnostic And Clinical Odyssey Of A Child With Mainzer-Saldino Syndrome
|
|
MYH3 A Gene Of Many Tales - Report Of Three Patients With Novel Mutations In MYH3
|
|
Incomplete Penetrance Of Thoracic Aortic Aneurysm In A Family With A PRKG1 Variant
|
|
Infant With Fatal Intracranial Hemorrhage Due To Abcb11-associated Vitamin K Deficiency
|
|
How Patient Advocates Benefit Clinical Care And Research: Experience Of The Children's Tumor Foundation
|
|
“Ethnic Disparity in Prevalence of Alzheimer's Disease: Role of Genetic Testing”
|
|
Hyperphagia, Obesity And Developmental Delay Due To A Novel Nonsense Variant In NTRK2
|
|
Case Report: Patient With A Unique Phenotype Of Acrogigantism And Short Rib Skeletal Dysplasia
|
|
Impact Of Ethnicity And Age Of Onset On The Outcome Of Clinical Exome Sequencing In South Florida
|
|
Experience Of Setting Up Of The First Multidisciplinary Adult Prader-willi Syndrome Clinic And The Need For Transitional Care. The Challenges, Hopes And Dreams.
|
|
Correlation Of Age-of-onset Of Atopic Dermatitis With Filaggrin Loss-of-function Carrier Status In An Atopic Dermatitis Study
|
|
Tatton-Brown-Rahman Syndrome: Further Delineating The Phenotypic Spectrum
|
|
Severe Presentation Of Congenital Disorder Of Glycosylation (cdg-1j) Associated With Two Novel Variants In DPAGT1
|
|
Reporting Risk Variants For Complex Disease: The Example Of Idiopathic Pancreatitis
|
|
A Time And Motion Study From The Clinical Sequencing Evidence-Generating Research (CSER) Consortium
|
|
Fetal Diagnosis Of Cardiac Rhabdomyoma Leads To Diagnosis Of Familial Tuberous Sclerosis Complex: A Case Report
|
|
Expanding The Phenotypic Spectrum Of SLC4A4 Variants
|
|
Crowd-sourced Annotation Of The Biomedical Literature Enhances Evidence Capture And Expedites Expert Biocuration
|
|
Speech Development Gene Pathways: Would Whole Genome Sequencing In Nonverbal Individuals Provide A Link?
|
|
Genetic Testing For Heritable Causes Of Epilepsy In Paediatric Patients At A Quaternary Care Center In A Low-middle Income Country
|
|
Exploring Cortical Hemodynamics And Functional Connectivity In x& Y Chromosomal Disorder Using Functional Near Infrared Spectroscopy (fnirs)
|
|
X The Unknown: Exploring Genotypic And Phenotypic Consequence Of A Likely Pathogenic X-linked BCOR Variant In An XXY Patient
|
|
Parental Stress In Children With Cornelia De Lange Syndrome: Age And Sex Determine Burden
|
|
Genetic Variant Burden And Outcomes In Pediatric Cardiomyopathy
|
|
Lactic Acidosis And Acute Liver Failure Secondary To Biallelic Variants In TRMU
|
|
An Adult Male With Osteopenia, Frequent Fractures And Severe Kyphoscoliosis: Expanding The Phenotype Of Pathogenic PLS3Variants
|
|
Identification Of A Novel Variant In The TXNL4AGene In Two Sisters With Burn-McKeown Syndrome
|
|
Expanding The Phenotype Of Kcnma1 Channelopathy To Include Severe Congenital Microcephaly
|
|
Case Report Of Two Patients With Trpv4-associated Congenital Distal Spinal Muscular Atrophy And Tethered Cord
|
|
Coffin-siris Syndrome: Expanding The Phenotypic Spectrum Of ARID1A Pathogenic Variants And A Report Of Parental Transmission
|
|
Biallelic Variants In CPSF3L Are Associated With A Novel Complex Neurological Disorder
|
|
The Phenotype Of A Large DMD Deletion Over The Lifespan: A Diagnostic Odyssey
|
|
Whole Genome Sequencing In Five Pairs Of Discordant Monozygotic Twins Indicating Roles Of Mir4509 In Esophageal Atresia With Tracheoesophageal Fistula
|
|
Clinical And Molecular Analysis Of 69 Chinese Patients With Ornithine Transcarbamylase Deficiency
|
|
Clinical AndMolecularGeneticsCharacterizationOfChinesePatientsWith Glutaric Acidemia Type I
|
|
Skeletal Human Muscle Stem/Progenitor Cells Genetically Modified With Connexin-43 Prevented Arrhythmia In Rat Post-infarction Heart
|
|
Involvement Of Kat8 In Cerebral Development And Syndromic Intellectual Disability
|
|
A Novel Missense Variant And Multi-exon Deletion Causing A Delayed Presentation Of Xeroderma Pigmentosum, Group C
|
|
A Prospective Clinical Study On The Clinical Impact Of Phenylketonuria In Adults: Study Design 307-902
|
|
A Case Series Of Distal Xq28 Deletions Involving BRCC3: A Brief Report On Cerebrovascular And Cardiovascular Incident Events
|
|
Potential Phenotypic Expansion Of KLF7-related Syndrome In A Patient With Complex Neurodevelopmental, Neuromuscular, And Renal Abnormalities
|
|
A Patient With A Region Of Homozygosity Of 15q14q21.2 Presenting With Prader-Willi Syndrome And Diagnostic Methylation Pattern
|
|
From Molar Tooth To Hedgehog And Beyond: A Child With Multiple Overlapping Phenotypes And A Pathogenic Variant In OFD1
|
|
Novel Variant In THG1L In Three Children With Severe Epileptic Encephalopathy And Its Frequency In The Ashkenazi Jewish Population
|
|
Supravalvular Aortic Stenosis, When A Microarray Is Insufficient: Case Report Of A Patient With Familial Cardiac Disease And Novel Eln Mutation
|
|
TESCGene Loss Causes Seizures, Intellectual Disability And Hippocampal Volume Loss In A Patient With Chromoanasynthesis-derived Chromosome 12q24.22-23 Deletion
|
|
Experience Delivering A 30 Gene Panel For Cardiovascular Disorders To Over 18,000 Individuals In An Unselected Population
|
|
SMN Genes Copy-number Analysis By Exome-seq: Assisting SMA Diagnosis And Carrier Screening
|
|
Clinical Presentation And Molecular Genetic Analysis Of 19 Russel Silver Syndrome Children Diagnosed By Methylation-specific Multiplex Ligation- Dependent Probe Amplification
|
|
BEST3 As a Candidate Gene for Autosomal Dominant Arthrogryposis Multiplex Congenita
|
|
Recurrent Constellations Of Embryonic Malformations Imply A Non-genetic Etiology
|
|
Phenotypic Landscape Of Rasopathies In Mexico: The Experience In Genetic Clinics
|
|
NIH INCLUDE (Investigation Of Co-occurring Conditions Across The Lifespan To Understand Down Syndrome) Project: Challenges Of Building A Virtual Cohort
|
|
8 Year-old Girl With Hypokalemic Periodic Paralysis And SOFT Syndrome: Novel, Disease-associated Variants Identified In SCN4A And POC1A
|
|
Benchmarking High-resolution Optical Mapping To FISH, Karyotyping And Chromosomal Microarray.
|
|
Identification Of A Novel Microdeletion Causative Of Nance Horan Syndrome
|
|
Expansion of the Phenotypic Spectrum Related to the NFIX Gene
|
|
Compound Heterozygous Variants In GOSR2 Associated With Congenital Muscular Dystrophy: A Case Report
|
|
A Case Of Sialic Acid Storage Disease
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Intrathecally Administered Recombinant Human Arylsulfatase A In Patients With Late-infantile MLD: Phase 2b Study Design
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Uniparental Isodisomy As A Cause Of Autosomal Recessive Disease In A Child With Ataxia Telangiectasia
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A Unique Finding Of 22q11.21 LCR22B-C Deletion In A 5-year-old Female: A Case Report
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Direct To Consumer Ancestry Testing Reveals A 46,XX Male And Infertility
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Diagnosis Of Foxg1 Syndrome Caused By Recurrent Balanced Translocation
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Segawa Syndrome And Wilson Disease In A One Year Old Boy: Utility Of WES
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The Value of WES Reanalysis: Case Report of Two Siblings With VAMP1-related Disorders
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Chromosome 2q13 Sub-microdeletion In Patient With Congenital Cardiac And Hepatic Anomalies. Further Evidence For Role Of TMEM87B In Cardiac Development
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SMAD6-related Craniosynostosis: Expanding The Phenotype To Include Dysplastic Teeth
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Intrafamilial Variability Of Smith-Magenis Syndrome In Two Siblings With A Nonsense Variant In RAI1
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Intra-familial Variability And Unique Features In A Sibship With Maternally Inherited Kmt2e-RelatedNeurodevelopmental Disorder
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Severe Respiratory Distress, Chronic Constipation & Absence Of Thrombocytopenia As Distinguishing Features In A Case Of 10p12-p11 Microdeletion Syndrome
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A Novel Homozygous Tti2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability
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Expanded Carrier Screening In A Consanguineous Couple Reveals Possible Misdiagnosis Of Their Deceased Child
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Clinical And Genetic Mutation Analysis Of 6 Chinese Cases Of Fructose 1,6 Bisphosphatase Deficiency
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A New Report Of A Truncating Variant In The CSNK2B Gene And Review Of The Literature
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Feeding And Respiratory Problems In Infants With Spondyloepiphyseal Dysplasia Congenita (SEDC)
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Craniosynostosis - A New Feature Of Oculo-facio-cardio-dental Syndrome
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Clinical Genetic Testing Identifies Novel Variants in PCDH19 and CDKL5 Causing X-linked Epilepsy Syndromes
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Expanding The Phenotype Of SVBP-related Disorder
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Clin.iobio Analysis Of A Complex Congenital Heart Disease And Heterotaxy Wgs Case Reveals De Novo Variation In Rnf40
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A Report Of A 15-year-old Male With Noonan Syndrome With Multiple Giant Cell Lesions Due To A Novel Sos1 Gene Defect And Review Of The Literature
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Pegunigalsidase Alfa, Novel Pegylated Enzyme Replacement Therapy, Evaluated In Fabry Patients With Progressing Kidney Disease - RCT Study Design
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Gene Disruptions In Rare Balanced Chromosomal Structural Rearrangements Provide Novel Loci As Candidates For Understanding Genetics Of Infertility
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Verification Of A Single-tube PCR/CE Kit For SMN1/2 Copy Number And Variants Associated With Gene Duplication And SMA Disease Severity
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Phenotypic Heterogeneity Of 7q21.3 Microdeletion In Multiple Family Members
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Bi-allelelic Variants In Pnpla6 Associated With Parkinsonsim In Addition To Spastic Paraplegia Phenotype
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Phenotype And Mutation Expansion Of PHACTR1-related Disorders
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Aicardi-Goutières Syndrome: First Patient Reported With Craniosynostosis
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Co-occurrence Of NGLY1 Related Congenital Disorder Of Deglycosylation And ACTL6BRelated Neurodevelopmental Disorder In A Pakistani Male
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Diagnosis Of Vici Syndrome Based On Posthumous Review Of Sibling's Test Result: Highlighting The Importance Of Family Member Record Review
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Expanding The Phenotype: A Case Report Of A MED12 Variant
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A Novel Chromosome 18 Deletion, Chromosome 5 Duplication Translocation Causing Facial Dysmorphology And Global Developmental Delay
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A Case Report Of Non-mosaic Trisomy 22 Liveborn With A Microdeletion At 22p13.2
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Hypotonia And Dolichocephaly In Two Afro-caribbean Siblings Caused By Homozygous Variants Of The Nalcn Sodium Channel
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Mayer-Rokitansky-Küster-Hauser Syndrome With Pulmonary Hypoplasia: Discordant Triplet Females
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Kidney In Galloway-Mowat Syndrome: Renal Histopathological Changes With Age And Disease Progression
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An 8mb 9q31.2q32 Deletion In A Two Year Old Girl With A Structural Brain Abnormality
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Novel Microarray Findings Of 4q31.21-q31.3 Dup/4q34.3-q35.1 Del In Child With Developmental Delays, Physical Features, And Social Challenges
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Case Report Of A 15-month-old Male Infant With Gaucher Disease Type 3c Due To Homozygous D409h Mutations And Review Of The Literature
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A Novel Case Of Trim8 Mutation Presented With Childhood Onset Seizure And Focal Segmental Glomerulosclerosis
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Milder Clinical And Biochemical Phenotypes Of Isolated Methylmalonic Acidemiaassociated Witha Novel Variant C.1663g>A In The Mmut Genein 30 Chinese Patients
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The Extraordinary Babies Study: Medical Features In 137 Prenatally Diagnosed Infants With Sex Chromosome Trisomy
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Nonsense Variants In Tab2 Associated With Syndromic Cardiac Presentation
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A Rare Missense Variant In GORAB Causes Geroderma Osteodysplastica
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Large 1q24.3-q42.3 Duplication With Severe Post-natal Growth Deficiency, Loss Of Developmental Milestones, And Early Death
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Computationally Assisted Biocuration Augments Data Capture For Variant Curation Expert Panels
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Recurrent CTBP1 Mutation Presenting As Congenital Fiber Type Disproportion
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A Novel De Novo Variant In MAP3K7 Identified In A Patient With Features Overlapping Cardiospondylocarpofacial Syndrome And Frontometaphyseal Dysplasia 2
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A Patient With Ring Chromosome 10 And Mosaicism Of A Derivative Cell Line: Difficulties In Counseling For A Complex Genotype
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An Additional Case Report Of PHF21A Mutation Provides Further Support For Association With Intellectual Disability, Epilepsy, And Overgrowth
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A Unique Female With An X-linked Neurodevelopmental Disorder
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Novel Pathogenic Variant In CHD3: A Snijders Blok-Campeau Case Report
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Dravet Syndrome : Multiple Faces Of Scn1a Mutations
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De Novo EEF1A2 Variant Causing Epileptic Encephalopathy
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Truncating Variants In RNF13 Cause Microcephaly, Cortical Visual Impairment, Increased Tone, Irritability And Hearing Loss
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Cornelia De Lange And Her Phenocopies
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Marshall-Smith Syndrome (MSS) In Two Patients Of Afro-Caribbean Ancestry
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A Case Of Mucolipidosis Type IV Identified Via Exome Slice; The Importance Of Utilizing Exome Slice For Difficult To Diagnosis Cases.
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Kyphoscoliotic Type EDS Caused By Compound Heterozygous Mutations In Fkbp14 Including A Novel P.lys190del Mutation
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A Case Of CREBBPExon 31 De Novo Missense Mutation Presented With Insomnia And Intellectual Disability Without Rubinstein-Taybi Syndrome Phenotype
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Atypical Diagnosis Of Neuraminidase Deficiency: A Case Report
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Genetic Medicine In A Multi-disciplinary Cleft Clinic At A Tertiary Care Center: A 7 Year Experience
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A De Novo Missense Variant In The DEAD-box Gene EIF4A1 Detected In Two Children With Congenital Malformations And Developmental Delay
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Blistering Babies: A Case Report Of A Family With Epidermolysis Bullosa
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First Reported Case Of A 4-year-old Boy With 49,XXXXY And Neurofibromatosis Type 1 (NF-1)
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Case Report Of The First Female With TAF1-related X-linked Syndromic Intellectual Disability
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Cars2 Mutations- An Emerging Neurologicalphenotype Withstroke-like Episodes?
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Acid Fast Clue To A Rare Primary Immune Deficiency- BCGiosis In A 2 Month Old Baby
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Influence Of The MTHFR Single Nucleotide Polymorphisms In The Susceptibility Of Preeclampsia: Systematic Review And Meta-analysis
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Early Diagnosis Of Chromosomal Deletion 1p32-p31 By SNPs Microarray Improve A Better Prognosis.
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