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2020 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery
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Contains (1327)
A Phase 2 Randomized, Double Crossover, Open-label, Active Controlled Study Of CNSA-001 In Patients With Phenylketonuria
Clinical Validity Of Expanded Carrier Screening: Evaluating The Gene-Disease Relationship In More Than 200 Conditions
Prenatal Exome Sequencing In Ongoing Pregnancies Is Indicated For Fetuses With Structural Anomalies
Predicted Truncating Variants In SMARCA4 May Be Innocent: The Importance Of Multi-institutional Collaboration
Development And Clinical Validation Of Transcriptome-sequencing For Pediatric Tumors
Increasing Access To Germline Genetic Testing For Prostate Cancer Patients Increases Yield Of Actionable Findings Across All Stages Of Disease
Matched Tumor-Blood Analysis Helps Clarify The Spectrum Of GermlineTP53-Related Cancers In Li Fraumeni Syndrome Patients
Age Of First Cancer Diagnosis And Survival In Bloom Syndrome
Assessment Of Mutational Profile In Lynch-syndrome Associated Ovarian Cancers
Genomic Sequencing In Critical Care: New Roles For Genetic Specialists
Gencounsel: Optimizing Genetic Counselling With Clinical Implementation Of Genome-wide Sequencing
Outcomes of Genome-Wide cell-free DNA Testing (cfDNA) in Patients with Prenatal Ultrasound Findings
“They’re Not Going To Do Nothing For Me:” How Patients View The Value Of Genetic Counseling For Genomic Sequencing
Exploring The Phenotype Of Deletions/Duplications By Combining SNP-Array Based Products Of Conception Testing With Ultrasound Findings In Later Losses
Use Of A Chatbot To Facilitate Uptake Of Cascade Genetic Testing
Recognizing And Adapting To Hurdles To Participation In Genomic Sequencing Research In Served And Underserved Populations
Predictors Of The Uptake Of Genetic Counseling Among Adult Patients Who Receive A Medically Actionable Result Through Genomic Screening.
What Does The Medical Genetics Workforce Look Like Today? Data From The 2019 Medical Geneticist Workforce Survey
Unintended Consequences Of A Population-based Genetics Program: An Intervention To Increase Access May Increase Disparities
Health Care Utilization And Cost For Infants Receiving Exome Sequencing
The Alabama Genomic Health Initiative: Early Results And Outcomes Of State-funded Genomic Research Screening
Parents’ Expected Utility Of Genomic Sequencing For Pediatric Cancer Patients In The Texas Kidscanseq Study
Ensuring Best Practice In Genomic Education And Evaluation
Training The Next Generation Of Genomic Medicine Providers: Trends In Medical Education And National Assessment
Genetics Primary Care Clinic Initiated By Combined Pediatric-Medical Genetics And Genomics Residents: A Potential National Model
Exploring Passive Refusal: Results Of Re-contacting Emerge Biobank Participants Who Did Not Actively Opt Out Of Receiving Genomic Screening Results
Dynamic Encryption And Watermarking Of Genomic Sequencing Data To Facilitate Privacy-preserving Ownership-based Data Governance
Project Baby Bear: The First State-funded Quality Improvement Project Of Rapid Whole Genome Sequencing In Neonatal And Pediatric Intensive Care Units
A “Genome First” Approach To Characterizing DICER1Pathogenic Variation Prevalence, Penetrance And Phenotype In 92,296 Individuals
Not Just A Carrier: Hypophosphatasia Presentations Of 12 ALPL Heterozygotes Identified Through Routine Expanded Carrier Screening
Higher Recovery Of Circulating Trophoblasts From Maternal Blood Early In Pregnancy Is Associated With Adverse Pregnancy Outcomes
Diagnosis Of Fetal Structural Abnormalities Using Exome Sequencing: A Single Centre Study
Not All Low Fetal Fraction NIPT Failures Are At Increased Risk For Aneuploidy
Triploidy/Vanished Twin Detection: Updated Clinical Experience Following Single Nucleotide Polymorphism-Based NIPT Twins Validation
A Universal Biochemical Platform For Newborn Screening of a Large Panel of Treatable Genetic Disorders
Reducing False-positive Results In Newborn Metabolic Screening Using Random Forest Machine Learning
Whole-body MRI And Functional Motor Tests In Children With Pompe Disease: Clinical Tools To Assess Severity Of Muscle Disease
Hypophosphatemia Gene Panel Sponsored Program: A High Yield Of Molecular Diagnoses From Clinically Confirmed XLH And Suspected XLH/ Genetic Hypophosphatemia
Screenplus: A Comprehensive Pilot Newborn Screening Program With Multi-stakeholder Support
De Novo Mutations In Tomm70, An Outer Mitochondrial Membrane Translocase Subunit, Causes Developmental Delay And Neurological Phenotypes
Clinical, Biochemical And Molecular Phenotypes Of Mild (Nonclassic) Rhizomelic Chondrodysplasia Punctata
Clinical Utility Of Molecular Genetic Testing In A Large Patient Cohort Suspected With Inherited Metabolic Disorders
A D-Galactose Treatment Monitoring Index For PGM1-CDG
Two Siblings With Pathogenic Variants In DHDDS Presenting With Retinitis Pigmentosa And Variable Neurologic And Multisystem Involvement
A Cohort Study Of Cognitive And Psychosocial Outcomes In Adults With Early-Treated Phenylketonuria
Leigh Disease &Lt P.e214k &Gt Mutations In The Low German-speaking Mennonite Population In Southwestern Ontario Canada
Epigenetic Contribution To Type 2 Diabetes Pathogenesis As An Intermediator Between Genetic And Environmental Components Responsive To Exercise Intervention
Tay-Sachs Disease: DNA Analysis As First-line Test For Carrier Screening
Successful Application Of A Novel Two-tier Approach That Combines 3-OMD Screening And DDC Sequencing To Detect Aromatic L-amino Acid Decarboxylase Deficiency
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
High Phenylalanine Concentration Contributes To The Stability Of The F263S-variant Of Phenylalanine Hydroxylase
Palynziq Clinic: 1 Year And 43 Patients Later
The Patient Reported Outcome Measurement Information System (PROMIS®) In Mucopolysaccharidoses
Treatment Of Combined D2-/L2-hydroxyglutaric Aciduria (slc25a1 Deficiency) With Citrate That Demonstrates Positive Outcomes In Seizure Control And Development
Molecular Diagnostic Findings Of Lysosomal Storage Diseases As A Result Of Detect Lysosomal Storage Diseases, A No-charge Sponsored Testing Program
Compound Heterozygous Variants In CA5AResulting In Carbonic Anhydrase VA Deficiency-Related Acute Metabolic Encephalopathy In Two Siblings
Carglumic Acid As A Treatment For Acute Hyperammonemia In Neonates With Isovaleric Acidemia
Rising Glucosylsphingosine Levels May Be An Early Indicator Of Disease Progression In Pediatric Type I Gaucher Disease
Prominent Perivascular Spaces In An Adult With Attenuated Mucopolysaccharidosis Type I
Benign Hyperphenylalaninemia Or Dnajc12 Related Hyperphenylalaninemia? Another Case Identified Through Newborn Screening Program
L-Alloisoleucine Levels In A Case Series Of Patients With Isovaleric Acidemia
MRPS34-related Leigh Disease With Normal Oxidative Phosphorylation Testing Identified By Whole Exome Sequencing Following Negative Gene Panel Testing
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
Expanding A Clinical And Biochemical Phenotype Of Acy1 Deficiency: A Cohort Of Eleven Patients With Acy1 Deficiency.
Dialysis And Outcome In Adults With Urea Cycle Disorders
Expanding The Phenotype: Attenuated Ethylmalonic Encephalopathy in Two African American Siblings
TANGO2-related Metabolic Encephalopathy and Arrhythmias in a Child Without Hyperammonemia
Hypomorphic Variant In Guanidinoacetate N-methyltransferase (GAMT) Confirmed By Untargeted Metabolomic Profiling
An Additional Case Of PARS2-related Disorder Presenting As Early Infantile Epileptic Encephalopathy
Expanding The Neurodevelopmental Phenotype Of Asparagine Synthetase Deficiency
Efficient Identification Of Cases Of Unexplained Atypical Diabetes Using Laboratory Phenotype Databases
Protracted Diagnostic Odyssey For Two Adult Siblings With Profound Biotinidase Deficiency
Development Of Gene Specifications For The X-linked Creatine Transporter (SLC6A8) By ClinGen’s Cerebral Creatine Deficiencies (CCDS) Variant Curation Expert Panel
Use Of The NIH Toolbox Cognition Battery In Children With Pompe Disease: Preliminary Findings
Pyruvate Dehydrogenase Deficiency And Triheptanoin: Observations From A Single Patient.
Psychiatric Manifestations In Patients With Atypical Non-Ketotic Hyperglycinemia
Exomic Diagnosis Of Mitochondrial 3-hydroxy-3-methylglutaryl-CoA Synthase Deficiency Solves An 18 Year Diagnostic Odyssey.
Utility Of Mrs In The Rapid Evaluation Of Patients With Ornithine Transcarbamylase Deficiency
Rmnd1-related Mitochondrial Disease Presenting With An Early-onset Fatal Phenotype With Renal Involvement
First Female Severely Affected With Atypical Hsd10 Disease
6-pyruvoyltetrahydropterin Synthase Deficiency: Review And Report Of 28 Arab Subjects
Against All Odds: Sapropterin Therapy In Dhpr Deficiency
“Awakenings”: Guanosine Triphosphate-cyclohydrolase (gtpch) Deficiency With Remarkable Clinical Improvement After Sapropterin Therapy
A Comprehensive Testing Program For Newborn Screening Of Krabbe Disease
Classical Galactosemia, A Case Report & Literature Review
The Applied Proteogenomics Organizational Learning And Outcomes Protocol (APOLLO): Germline Variant Analysis In Retrospective And Prospective Cohorts
Experiences And Perceptions Of Patients Undergoing Hereditary Cancer Population Screening
The Spectrum Of DICER1 Variants Detected In A Clinical Diagnostic Laboratory
Evaluating Dosage Sensitivity Of Hereditary Cancer Genes
BCR-ABL1 FUSION BY CHROMOSOMAL INSERTION: AN ANALYSIS OF 15 CASES
Identification Of Women At Risk For Hereditary Breast Ovarian Cancer Syndrome: The Value Of A Genetics Clinic Referral
Collaborative Workflow To Clarify Germline Significance Of Somatic Findings In The Oncology Setting
Three-dimensional Nuclear Telomeric Organization Of Chronic Myeloid Leukemia Patients (cml) Predicts Accelerated Phase And Blast Crisis
PAN-Cancer RNA-Sequencing Analysis Of Human Telomerase Reverse Transcriptase Isoform Expression Patterns In Neoplastic And Normal Tissue Types
Developing Optimized ACMG-AMP Criteria For Classification Of Germline Variants In Tp53
Comprehensive Genomic Profiling In Individuals With Li-fraumeni Syndrome And Somatic Disease Informs Patient Management And Treatment Decisions
Chatbot Successfully Assesses Risk For Hereditary Cancer In Obstetrics And Gynecology Practices Across The United States
Germline Genetic Testing Results For Individuals With Melanoma
Differential Expression Of Aurora Kinase Genes Predict Genomic Instability In Down Syndrome Cells
The Clinical Utility Of Combined Germline And Somatic Testing Exceeds That Of Either Test Alone
CDH1 ACMG/AMP Variant Interpretation Guidelines Version 2.0: Evolution Of ClinGen Expert Panel Specifications.
A Machine Learning System For Cancer Cytogenetic Case Review
Tumor Profiling Identifies Germline Variants In Lymphoma Patients
Adult Mice Lacking Brca1 Are Viable And Sensitive To DNA Interstrand Crosslinks But Not Double-strand Breaks
A Rare Case Of An Acute Myeloid Leukemia With CBFB And BCR/ABL1 Gene Rearrangements - A Case Report And Review Of Literature
Neonatal Acute Myeloid Leukemia (aml) Vs Mosaic Down Syndrome Associated Transient Abnormal Myelopoiesis (tam): Deciphering Constitutional Vs Neoplastic Cytogenetic Abnormality
Cytogenetic Abnormalities In Donor Cells After Sex Mismatched Allogenic Stem Cell Transplantation
A Challenging Case Of Variant Reclassification And Germline Mosaicism In Li Fraumeni Syndrome
To Follow Or Not To Follow: NCCN Criteria Missing Patients With Hbocs And Lynch Syndrome
Determining Germline Versus Acquired In A Case With Multiple Copies Of Isoacentric 9p Chromosomes In Bone Marrow
Identification Of KMT2A/AFDN Fusion Gene On Derivative Chromosome 6 In An Adult Patient With Acute Myeloid Leukemia
Amplification And Genetic Heterogeneity Of HER2 In Invasive Ductal Carcinoma Of Breast: A 7 - Year Result Review And Clinicopathological Implications
Cytogenomic And Clinical Characterization Of B-Lymphoblastic Leukemia With Intrachromosomal Amplification Of Chromosome 21 (iAMP21) In An Individual With A Constitutional Ring Chromosome 21
More Survivors With RTPS-1 Suggests A Need To Revisit Surveillance Recommendations
Targeting And Preventing Treatment-induced Polyploidy In Double-hit/double-expresser Diffuse Large B-cell Lymphoma
Recurring Chromosomal Translocation Serves As Predictive Markers Of Progression Of Esophageal Dysplasia To Adenocarcinoma
A Case Of Familial CEBPA-Associated Acute Myeloid Leukemia In A Nine-Month-Old Infant
A Case Of T-pll With Ezh2 Mutation; Ezh2 The Sword Or The Shield?
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
Identification Of Germline Variants For Hereditary Cancer Using A Multiplex Amplicon-based Ngs Target Enrichment Approach
Clinical Utility Of Genomic Screening For Hereditary Cancer Syndromes
DIFFERENTIAL EXPRESSION ANALYSIS OF AURKA AND AURKB GENES IN DISTINCT TISSUES OF THE ORAL CAVITY: FROM THE BENIGN TO THE MALIGNANT
Spectrum Of Bcr-abl Rearrangement Variants In Pakistani Patients With CML & ALL: A Retrospective Study
ALK Rearrangement Status EGFR Negative NSCLC
Assessment Of Tumor Mutational Burden Using A Multiplex Amplicon-based Ngs Target Enrichment Approach
Infantile Fibrosarcoma-like Morphology Without Characteristic ETV6-NTRK3 Gene Fusion
A Germline PALB2 Pathogenic Variant Identified In A Pediatric High Grade Glioma
Comprehensive Detection Of Germline And Somatic Structural Mutation In Cancer Genomes By Bionano Genomics Optical Mapping
Multiple Endocrine Neoplasia 2A: Potential Expansion Of Extra-neoplastic Phenotype
SDHD Hereditary Paraganglioma-Pheochromocytoma Syndrome: Predicting Disease And Personalized Care
Coordination Of Genetic Testing For Prostate Cancer Patients At A Community Hospital
Association Of Loss Of Y-chromosome With Carcinogenesis And Early Detection Of Colorectal, Pancreatic And Prostrate Cancers In Males
Insurance Companies' Adherence To HBOC-related NCCN Guidelines
Incidental And Unexpected Birt-hogg Dube Syndrome Diagnoses
Group Genetic Counseling For Low-Risk Prenatal Patients: A Pilot Project
Point-of-service Genetic Testing In An Ovarian Cancer Patient Population Improves Uptake In Genetic Testing For Hereditary Cancer Risk
Driving Referral Follow Through: Uptake Of Cancer Genetic Counseling Following Physician Referral
Prioritizing Variants From Whole Genome Sequencing In Rare Undiagnosed Genetic Disease Cases Using Phenotypic Overlap Counts
Impact Of Pre-test Genetic Counseling On Patient Decision To Pursue Testing
Outcomes of Genomic Screening for HBOC, Lynch Syndrome, Familial Hypercholesterolemia and hATTR in Highly Diverse Patients in New York City
GeneCounsel: A Tool To Automate Portions Of Pre-test Genetic Counseling For Inherited Cancer
Repeat Dissection Of Products Of Conception Samples Following Suspected Subtle Mosaicism Provides More Accurate Reporting And Increased Detection
22q11.2 Deletion Syndrome And Coexisting Conditions: An Important Prognostic, Management, And Genetic Counseling Consideration
Expanding The Phenotype, Or Patients With More Than One Genetic Condition?
Clinical Utility Of A Patient-facing Family Health History Risk Assessment Tool Among Cancer Patients To Identify Risk For Hereditary Syndromes
Ethnicity-specific Hereditary Cancer Panel Yields: Moving Towards More Personalized Risk Assessment
Case Examples Demonstrating The Value Of Oversight By Genetic Counselors For Consumer-initiated Testing
Dystrophinopathy Phenotypic Variability Considerations For Current Genetic Counseling Practices
The Impact Of A Family History Of Intellectual Disability On Fragile X Carrier Screening Decisions
Newborn Screening For X-linked Adrenoleukodystrophy: Genetic Counseling And Psychosocial Challenges
STK11 Mosaicism Identified Through Germline Testing: Implications For Individuals With Peutz-Jeghers Syndrome
A New Genetic Testing Model For Women At High Risk For Breast Cancer Based On Family History
Identification Of Hemizygous Males By Expanded Carrier Screening
Decreasing Institutional Costs While Improving Care In A Freestanding Children's Hospital: Introduction Of A Genomics Utilization Management Program
Engaging Patients In Research Through The Participant Engagement And Empowerment Resource (PEER) For The Undiagnosed Diseases Network (UDN)
The Commission On Cancer Standard 4.4 Is Coming. How Will We Meet The New Requirements Regarding Genetic Counseling?
Lessons Learned From Family Engagement And A Model For Patient-centered Research: Quality Of Life And Parent-reported Goals In TANGO2-related Disorder
Evaluation Of The Utilization Of A Genetic Counseling Assistant For Consenting Patients With A Personal History Of Breast Cancer
Identification Of Biallelic DMD Variants During Maternal Carrier Testing For Becker Muscular Dystrophy
Single-gene Noninvasive Prenatal Testing For Cystic Fibrosis Improves Clinical Specificity Of Carrier Screening
Using Knowledge Of Patient Preference For Genetic Testing To Prepare For Shift In Delivery Model Of Cancer Genetic Counseling Services
Diagnosing The Undiagnosed: Expanding The Genetic Etiology And Phenotypic Spectrum Of Rare Pediatric Conditions
Geographical Analysis Of The Distribution Of Certified Genetic Counselors In The United States
High Volume Breast Cancer Genetic Counseling Pilot: Alternative Model To Increase Patient Access
Newborn Screening Referrals Highlight Pitfalls In Parental Preconception Carrier Testing And Counseling- Two Case Reports
Patient Satisfaction With Telehealth Genetic Counseling Consultations For Both Office-based Physician-ordered And Consumer-initiated Testing
The Role Of A Diagnosis And Coping Effectiveness In Psychological Well-being In Parents Of Children With A Suspected Genetic Diagnosis
Inpatient Pediatric Genetic Counseling: Experiences At Texas Children’S Hospital
Perceptions Of Provider’S Epistemic Authority In Response To Variant Of Uncertain Significance Related Recommendations
Development And Testing Of A Training Module For Healthcare Interpreters: Preparing Medical Interpreters For The Delivery Of Exome Sequencing Results
Hereditary Cancer Testing: Moving Beyond Testing The Affected Individual First
An Extremely Rare Case Of A Woman With Complex Chromosomal Rearrangements Along With 45,X/46,XX/47,XXX Mosaicism
"There's No Such Thing As A Genetic Emergency": Genetic Counseling And The Parent Experience In Acute Care
Report Of A Carrier With Reciprocal Translocation Between Chromosome 1 And 9 In A Complicated Pregnancy
Two Cases Of Fabry Disease Diagnosed Through Expanded Carrier Screening - Highlighting The Need For Pre-test Genetic Counseling
Americans’ Knowledge And Perceptions Of Genetic Counselors: A National Sample
Reproductive Decisions Made By Balanced Chromosome Translocation Carriers
Genetic Counseling For Autism Spectrum Disorder At Boston Medical Center
Regulation Of The Preimplantation Genetic Testing In Japan: Challenges For The Clinical Application
Management Of Pregnancy In A Patient With Stickler Syndrome
Bullying And Resilience In Adolescents With Loeys-Dietz And Marfan Syndromes
The Importance Of Genetic Counseling And Teleconsultation For Clinical Whole Exome Sequencing - A First Hand Experience From China
Impact Of Genetic Counselors At Tumor Board On Endometrial Cancer Patient Referrals For Genetic Testing
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
Improved Detection Of Low-level Aneuploidy In Chromosomal Microarray Analysis Of Products Of Conception
The Unpredictable Is Now Predictable - Use Pharmacogenetic Testing And NCBI's Medical Genetics Summaries (MGS)
Post Graduate Education: Is Genetics Included On Board Certification Exams?
“We All Might Be Dying A Little Faster”: Uncertainty Management And Healthcare Barriers For Individuals With Lynch Syndrome
Challenges And Solutions For Training Genetic Counselors In The Supervision Of Psychosocial Skills
Disclosure Of Adverse Reaction Pharmacogenomic Variants: How To Confirm Receipt And How Do Biobank Contributors React?
Should Health Systems Share Genetic Findings With At-risk Relatives When Proband Is Deceased? Interviews With Individuals Diagnosed With Lynch Syndrome
The Inaugural Clinical Genetics Advanced Practice Provider Conference As The Culmination Of Fully Integrating APPs Into A Clinical Genetics Model
Laboratory Rotations For Genetic Counseling Graduate Students: Preparing The Next Generation For Careers In And With Genetic Testing Laboratories
The ClinGen Biocurator Working Group: A Forum For Education And Training For ClinGen Biocurators
Preemptive PGx Testing: Do Patients Have Concerns?
Oral Cleft Laterality And Academic Outcomes In Pediatric Patients
Was Implementing Genomic Sequencing In Pediatric Cancer Care Disruptive? Oncologists’ Views After Returning Genomic Results In The BASIC3 Study
Selecting Adolescents’ Genomic Research Results: Comparison Of Concordant And Discordant Adolescent-parent Dyads
Preliminary Evaluation Of The ABMGG Longitudinal Assessment Program Using The Certlink™ Platform
Finding Zebras In Medical Practice: A Novel Pre-clinical Elective Curriculum To Improve Medical Students’ Familiarity With Genetic Disorders
Standardizing The Medical Genetics Rotation For Pediatric Residents Enhances Learning Experience
Filling The EHR/EMR Gap With A Patient- And Provider-centered Genomics Health Exchange
Returning Negative Results By Mail: A Quantitative And Qualitative Assessment Of Patient Experiences And Interpretations
Concise And Precise: Developing Accessible Patient Educational Materials For Population Health Genetic Screening
Rare Genetic Disease Research In Newborns: Tools And Resources From The Newborn Screening Translational Research Network (nbstrn)
Real-time Consumer Interpretation Of Genetic Test Results Via Online Portal
The Impact Of A Genetic Diagnosis Of A Sex Chromosome Aneuploidy On Identity And Diagnosis Disclosure
Empowering General Practice Providers For Genomic Medicine At A Major U.S. Health System
Participatory Education In Genetics And Precision Medicine For Family Medicine Residents Engages Learner While Meeting Competency Requirements
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
Hereditary Hemochromatosis: Preventative Care In The Era Of Recreational Direct-to-consumer Genetic Testing
Development Of A Common Consent Form For Genetic Testing Within The Partners Healthcare System
Misinterpretation Of Genetic Test Results
When Barriers Break:the Coexistence Of Mistrust And Willingness To Participate In Genomic Medicine Research
Prenatal Cell-Free DNA Screening for 22q11.2 Deletion Syndrome: Positive Predictive Value Estimates from a Large US Clinical Laboratory
The Effect Of Maternal Body Mass Index And Gestational Age On Circulating Trophoblast Yield In Cell-based Noninvasive Prenatal Testing
A Novel, Noninvasive Prenatal Screening Methodology Identifies A Healthy Fetus From A Mother With A Complex Sickle Cell Disease Genotype
Review Of Diagnostic Results Following Failed Non-Invasive Prenatal Screening Results
Right Under Our Nose: A Comprehensive Family History Review For Hereditary Cancer In A Prenatal Genetic Setting
Lower Fetal Fraction In Non-invasive Prenatal Screening (nips) Is Associated With Increased Risk Of Hypertensive Disorders Of Pregnancy
Increasing Popularity Of Preimplantation Genetic Testing For Monogenic Disorders (PGT-M) For Cancer Predisposition Genes
Low-income, Rural, Latina Pregnant Women’S Views And Experiences Of Carrier Screening: A Qualitative Study
Suspected Maternal Vs. Fetal Sex Chromosome Cell-free Dna Screening Results Impact Diagnostic Testing Uptake And Follow-up
A Multiplex PCR/CECFTR Prototype Assay And Software Targets Mutations Including Poly-T/TG And Addresses >90% Allele Frequency In US Population
Whole Exome Sequencing For Prenatal Diagnosis Of Greig Cephalopolysyndactyly Syndrome: A Case Report
Heterotaxy: Prenatal Diagnosis With Report Of Postnatal Outcomes
Variable Antenatal Dexamethasone Administration In Fetuses With Congenital Adrenal Hyperplasia
Experiences Of Prenatal Diagnosis Among Parents Of Children With Sex Chromosome Aneuploidies
Prenatal Diagnosis Of Harlequin Ichthyosis Resulting In Third Trimester Termination
Expanded Aneuploidy Analysis Reveals Trisomy 2: Rare Aneuploidy Result Via NIPS Directs Focused Care
Pregnant Patients’ Knowledge And Decision-making Preferences Regarding Panethnic And Expanded Carrier Screening
Expansion of the Geleophysic Dysplasia Phenotype in Two Fetuses with a Novel Homozygous ADAMTSL2 Variant
Development Of A Chatbot Education Aid For Prenatal Testing Options
A Novel High-throughput Molecular Counting Method With Single Base-pair Resolution Enables Accurate Single-gene Nipt
Prenatal Diagnosis Of Seckel Syndrome With Bi-allelic Variants In TRAIP
Rolling Circle Replication Based, Non Invasive Prenatal (NIPT) Assay Offers A Globally Accessible, High Precision, And Low-cost Prenatal Aneuploidy Screen.
One Lab’s Experience with Cystic Fibrosis Carrier Screening in Males with Infertility
Lethal Urinary Tract Anomalies In A Fetus With 21q22.11-q22.12 Deletion, Including The Son Gene
Frequency Of Incidental Maternal Mosaic And Variant Turner Syndrome Detected By NIPT In A Pregnant Cohort
Biallelic Variants In LAMB1 Causing Hydranencephaly: A Severe Phenotype Of A Rare Malformative Encephalopathy
A Two-tier Prenatal Chromosome Microarray Testing Strategy Based On Clinical Indication: A Retrospective Study
Ethical Challenges Of Expanded Carrier Screening In Combined Malonic And Methylmalonic Aciduria: A Case Report
The Association Of Maternal HBB Pathogenic Variant Status And Fetal Fraction In Non-Invasive Prenatal Screening
Trends In Congenital Anomalies From 1992 To 2011 In The State Of New York
Prenatal Evaluation Of Arthrogryposis
Autosomal Pentasomy Implicates Rare Non-disjunction Event
Expanding The Prenatal Phenotype Of IPEX Syndrome
Development And Clinical Validation Of An Automated, Sample Responsive Noninvasive Prenatal Screening Test In A Mixed-risk Population In India
Lack Of Consensus On The Use Of Exome Sequencing For Prenatal Diagnosis
Non-mosaic Trisomy 7 At 24 Weeks By Placental Microarray: Prenatal Natural History In The Midtrimester
Development And Clinical Use Of A Spinal Muscular Atrophy Carrier Screen With Reflex Non-invasive Prenatal Test
Noninvasive Prenatal Screening: The Analysis Of Redraw Cases
Prenatal, Postnatal And Maternal Clinical Manifestations Of Patients With Trisomy 13
Accurate Prediction Of Fetal Disease Status For Maternal Cystic Fibrosis Carriers By Single Gene Non-invasive Prenatal Testing
Prenatal Presentation Of 17q12 Microdeletion Syndrome: Demonstration Of Intrafamilial Phenotypic Variability And Implications For Presumed Affected Family Members
Dystrophic Epidermolysis Bullosa In Pregnancy And Delivery Considerations: A Case Series
Familial Retinoblastoma: The Positive Impact Of Prenatal Diagnosis
Analytical Validation Of A Sequencing Assay For Alpha Thalassemia That Identifies Novel Variants
Early Genetic Diagnosis Of Twin Gestation With A Molar Pregnancy
Inconclusive Prenatal Findings: The Importance Of Follow-up Post-natal Testing In Cases Of Mosaicism
Discordant Aneuploidies Identified by Chorionic Villus Sampling (CVS) and Amniocentesis Following Non-invasive Prenatal Screening (NIPS)
Clinical Genetic Testing Laboratories: Compliance With Prenatal Genetic Testing Guidelines
Preliminary Findings From Returning Polygenic Scores For Coronary Artery Disease To Research Participants
A Genomic Future For Newborn Screening: Sequencing A Baby For An Optimal Outcome
The Sanford Health Preemptive Genetic Screening Program - Allele Frequencies For Recurrent Variants In CDC Tier 1 Diseases, CYP2C19, And Others
Large Scale Electronic Consent: Experience In The Early Check Expanded Newborn Screening Study
HeartCare: Improving Clinical Practice Through Comprehensive Cardiovascular Genetic Testing
Increasing Detection Of Hereditary Breast And Ovarian Cancer Via Multigene Panel Testing Without Pre-test Genetic Counseling
Outcomes Of Insurance Pre-authorization Requests For Genomic Testing In An Outpatient Pediatric Genetics Clinic
Exploring Healthcare Providers’ Perspectives On The Clinical Utility Of Cell-Free DNA Testing
Can We Really Test Everyone? A Scalable Model To Identify Healthy Individuals At Risk For Hereditary Cancer Syndromes
Infants With Genetic Disorders Are Under-represented In National Mortality Statistics
Implementation Of Universal Lynch Syndrome Screening Programs: A Qualitative Cross-case Comparison Of Two Organizations
Inclusion Of Neuropsychiatric Disorders In Population Genomic Screening: Providing Value, Meaning, And Guidance To Adults With CNV-Disorders
Using Electronic Health Record Content To Prevent Breast And Ovarian Cancer
Putting It Into Practice: Tracking Errors In Disclosures Of Genome Sequencing Results In The NICU By Trained Non-Genetics Providers
Consumer-initiated Genetic Testing: What Is It, And Are We There Yet?
Trends In The Workforce: Landscape Of Genetics Provider Employment In California
Impact Of Receiving Clinically Actionable Genetic Results On Lifestyle Behavior Changes
Population-based DNA Screening In The Primary Care Clinic
Application Of NCCN Guidelines Via EHR Review Misses Many Individuals With Actionable Cancer Predisposition Variants
Malignant Hyperthermia: A Multidisciplinary Approach To Leveraging Genetic Results To Increase Patient Safety
Patient And Public Preferences On Being Re-contacted With Updated Incidental Results: A Mixed Methods Study
Consent Forms Marketed By Commercial Laboratories Vary In Readability
Whole Genome Sequencing As A Screening Tool In Healthy Population: Lessons Learned From 110 Cases
Customizing ClinGen’s Variant Curation Interface
Development Of The First Chinese Community Health Worker Certification Program On Family Health History-based Cancer Prevention In Texas
International Application Of Clinical Actionability Curations: Actionability Working Group In Japan
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
Best Practices And Considerations In Implementing Population Genomics Programs Based On Multiple Large-scale Initiatives- From Enrollment To Clinical-grade Return Of Results
Population Approach To Implementation Of Genomics Into Primary Care: DNA-10K Initiative
Identifying Gaps In Access To Research In Patients With Rare Diseases Using A Real-World Data Platform
TTR as a Model for Genomic Medicine Implementation in African and Hispanic/Latino Ancestry Populations
Genetic Services Utilization By Primary Care Physicians In The US
Engaging Patients To Improve Optimal CYP2C19 Test Utilization In Patient Care
Patient-driven Genetic Test Orders: An Investigation Of Their Clinical Impact
Scaling Patient/community Engagement At The Consortium Level: Personal Connections On A Broader Scale
Germline Mutation Prevalence Among Latin American And Us Hispanics Undergoing Testing For Hereditary Breast And Ovarian Cancer
Willingness To Pay As An Indicator Of Perceived Utility For Whole Genome Sequencing
Updates From A New, Multi-disciplinary Clinical Model Searching For Rare And Novel Genetic Disorders Of Immune Dysregulation
Facilitating Rare Genetic Disease Research: Methods For CDE Development To Improve Interoperability And Usability Of Genomic And Phenotypic Datasets
The Rare Disease Institute Telemedicine Experience
Preventive Genetic Testing In Primary Care: Experiences Of Patients Participating In The DNA-10K Initiative
Adult Cancer Patients’ Experiences With Uncertainty When Making Decisions About Learning Secondary Findings From Genomic Sequencing
Assessing Referral Of Plain Community Members For Genetic Services At UPMC Children’s Hospital Of Pittsburgh: A Quality Improvement Study
The Advanced Nurse Practitioner In The Medical Genetics Care Team: Emerging Concepts For Training And Integration
Deployment Of Expanded Familial Hypercholesterolemia Genetic Testing In An Academic Health System
Do Family Health History Interviews Influence College Students’ Perceived Risk For Disease And Intent To Engage In Preventive Behaviors?
Delivering Population Genomics To Transgender And Non-binary Individuals
The Effectiveness Of The FHH-based CRC Prevention Workshops Among Chinese Americans
The Benefits Of A Full-time Inpatient Genetic Counselor: The Experience Of One Center’S High Volume Genetics And Metabolism Service
Development Of A Novel, Multidisciplinary Preventive Genomics Clinic
The Inter-departmental Genetic Counseling Program: A New Model To Provide Genetic Counseling Services At Columbia University Irving Medical Center
Design And Implementation Of A Novel Follow-up Program For Infants With Genetic Syndromes
Psychosocial Response After Receiving Genetic Results From A Biobank
Penetrance Of Hypertrophic Cardiomyopathy During Childhood: Estimates From The Preempt Model
ACTN3 R577X And ACE I/D Increases Muscle Strength During A 4-week Training Period In Japanese.
Minimizing the Impact of Health Disparities in Pharmacogenomics: An Assessment of Broad Variant Coverage in CYP2C9 Using Losartan and Diclofenac
Mapping The Diverse Genetic Disorders And Rare Diseases Among The Syrian Population: Implications On Refugee Health And Health Services In Host Countries
Wgs Sequencing At Scale: Experiences From A National Genome Sequencing Project
Diversifying Our Genomic Databases: Ethnically Diverse Populations’ Perspectives
Parental Perception Of Perceived Emotional Qol Of Their Child With Cerebral Palsy And The Impact Of The Presence Of A Family Dog
Assessing The Pathogenicity Of Mitochondrial DNA Variants Using A Novel Database Of 195,000 Unrelated Individuals
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
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
Onasemnogene Abeparvovec-xioi Gene Therapy In Presymptomatic Spinal Muscular Atrophy: SPR1NT Study Update
The Himera Dwarf: Bioarcheological And Genetic Analyses Of An Ancient Adult Greek Skeleton With Achondroplasia
Three-tier Algorithm With Complete CFTR Gene Sequencing Improves Cystic Fibrosis Newborn Screening In New York State
Rates And Characteristics Of Incidental Findings Drawn From Panel Sequencing Of 21,915 Emerge Network Participants
Advancing Genomics Through Data Sharing Enabled By Global Alliance For Genomics And Health Standards
Systematic Analysis Of Physical Examination Characteristics Of 94 Individuals With Joubert Syndrome: Keys To Suspecting The Diagnosis
Standardizing The Classification Of Recurrent Copy Number Variants - From Benign To Reduced And High Penetrance Regions
22q11.2 Duplication Syndrome: An Important Cause Of Congenital Anomalies, Medical Conditions, Cognitive Deficits And Behavioral Phenotypes
Reducing Sanger Confirmation Testing Through False Positive Prediction Algorithms
A National Randomized Control Trial Of A Novel Online Platform That Generates Customized Health Recommendations For Patients With Down Syndrome
Assessment Of NIPT Laboratories Offering Cell Free (cf)DNA Screening For Down Syndrome: A CAP Educational Exercise
Phenotype-driven Blood-biomarker And Muscle Functional Genomics Significantly Increase Neuromuscular Disease Diagnosis Of >400 Patients By Resolving VUSs And Multi-Gene Inheritance
Are Genotyping Arrays Suitable For Returning Clinically Actionable Variants In A Large Biobank Population? Findings From The Partners Healthcare Biobank
Recognition Of Distinct Facial Morphology In Youth With Congenital Adrenal Hyperplasia Via Machine Learning Techniques
Precision Medicine: Integration Of Next-generation Phenotyping Improves Efficiency In Clinical Exome And Genome Analysis
Growth In Patients With Attenuated Mucopolysaccharidosis Type I Treated With Laronidase Enzyme Replacement Therapy
Decipher Exome-based Limitations For ADPKD Diagnosis
Under Recognition Of The Disease Burden Of Hereditary Hemochromatosis: A Population Screening Study
Reanalysis Of Negative Clinical Exomes: Reciprocity Between Research And Clinic To Find Diagnoses
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
Reactive Gene Curation To Support A Clinical Whole Genome Sequencing Test
Contributing To Gene-disease Discovery Through GenomeConnect, ClinGen’s Online Patient Registry
Clinvar Provides Notification Alerts For Changes In The Overall Interpretation Of A Variant
Using Data From Emerge Iii And Clinvar To Estimate The Workload Placed On Clinical Genomic Reporting By Variant Reanalysis Activities
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
Diagnostic Yield And Clinical Utility Of Genetic Testing In Children With Seizure Onset After Two Years Of Age
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
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
Clinical Utility Of Genomic Testing: A Measurement Toolkit
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
Comparative Analysis Of Smash Vs Cma For Detection Of Copy Number Variants
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
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)
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
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
Beyond Variant Interpretation- Variability In Clinical Genetic Testing
HMI-202: Investigational Gene Therapy For Treatment Of Metachromatic Leukodystrophy (mld)
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
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
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
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