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

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

Phenotype Expansion of Heterozygous FOXC1 Pathogenic Variants towards Involvement of CAKUT

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

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

Epilepsy And Electrographic Abnormalities In Patients With SATB2-associated Syndrome

Clinical, Cytogenetic And Molecular Characterization Of A Paternally Inherited Deletion Of NLGN4X In A Female With Autism Spectrum Disorder

Improving The Diagnostic Yield In Patients Suspected For Primary Immunodeficiency

Nf1 Gene Deletion Size And Associated Clinical Presentations In Neurofibromatosis Type 1

Systemic Gene Transfer With Raavrh74.mhck7.sgcb Increased β-sarcoglycan Expression In Patients With Limb Girdle Muscular Dystrophy Type 2e

Managing Patient-directed Test Requests: Trends In Provider Experience And Use Of Scripts To Support Patient-centered, Evidence-based Care

A Novel De Novo Copy Number Variant Causes HNRNPA1-related Multisystem Proteinopathy: Case Report And Molecular Profile

Diagnostic Exome Sequencing In Adults With Neurological Disorders

Concordance Of Clinical Geneticist Differential Diagnoses And Molecular Diagnosis By Rapid Genomic Sequencing In The NICU/PICU

Next Generation Genotyping (NGG) For Population Scale Genomic Studies Using Riptide™ Dna Library Preparation

Barriers Exist In Utilization Of Emr Analysis To Identify Patients With Hypophosphatasia, A Rare Disease With A Common Biomarker

Prenatal Detection Of WGiUPD In A Chimeric Cohort: A Retrospective Review

Incidence Of Genetic Diagnoses Among Individuals With Valvar Pulmonary Stenosis

Clinical Validation And Diagnostic Rate/Outcomes Of A Dual Molecular Diagnostic Assay For Myotonic Dystrophy 1

Chedda Syndrome: A Case Report Of A Rare And Newly Described Syndrome

Novel 47kb Duplication Of 11p15.5 Associated With Russell-silver Syndrome

Proactive Reanalysis Strategy Of Clinical Whole Genome Data Aims To Increase Diagnostic Yield And Update Clinical Significance Of Previously Reported Variants

Incidental Finding By Carrier Screen: When Carrier Testing Leads To Possible Diagnosis

Accuracy And Reproducibility Of Sanger Confirmed Variants With Helix Exome+ NGS Data

High Resolution Analysis Of D4Z4 Repeat Regions For Studying Facioscapulohumeral Muscular Dystrophy (FSHD) Using Whole Genome Optical Mapping

Clinical And Epidemiological Analysis Of The Association Between Congenital Abnormalities And Neurocognitive Disorders

Evidence Of 10q11.22-q11.23 Duplications As A Risk Factor For Neurodevelopmental Disorders

Mimics Of Neurodegeneration With Brain Iron Accumulation: The Diagnostic Experience Of An International Consultation Service

Predictive Genetic Screening Of Healthy Individuals: Case Study Of Rheumatoid Arthritis Drug Response And Toxicity

Multimethod Analysis Of Chromosome Structural Variations In Congenital Diaphragmatic Hernia.

Deficiency In The Endocytic Adaptor Protein Pheta1/2 Impairs Renal And Craniofacial Development

Exome Sequencing In A Diverse Pediatric Population: Interim Findings From The UCSF P3EGs Project

The Clinical Utility Of Detecting Copy Number Variants Via Next-Generation Sequencing

Duchenne Muscular Dystrophy In The Era Of Genetic Therapies: Saving Lives Through Early Diagnosis And Treatment Using Nationwide Newborn Screening

Diagnostic Findings Of A 28-gene NGS Panel For Vitamin B12 Metabolism-related Disorders

Advancing Translational Genomics In The Clinic: Targeted Rapid Mouse Modeling To Solve Variant Saga And Guide Medical Management

Intrafamilial Variability And Phenotypic Expansion Of Kohlschutter-Tonz Syndrome Due To Biallelic SLC13A5 Variants

The Spectrum Of Features In Males And Females With Mosaic 45,x/46,xy

Classical Hodgkin Lymphoma with t(11;14) and Shared Cytogenetic Aberrations with Mantle Cell Lymphoma: A Case Report with Clone Evolution and Pathway Analysis

Evaluating Cognitive And Adaptive Outcomes In Fragile X Syndrome Across The Lifespan: Results From The Cdc Fragile X Forward Component C Project

Identical Twins With Non-identical SNP Microarray Profiles: Potential Applications

Targeted Genetic Analysis In A Chinese Cohort Of 208 Patients Related To Familialhypercholesterolemia

Gene-specific Artificial Intelligence-based Variant Classification Engine: Results Of A Time-capsule Experiment

Long-term Efficacy And Safety Of Vestronidase Alfa Enzyme Replacement Therapy In Subjects With Mucopolysaccharidosis VII <5 Years Old

3q27.1 Microdeletion Causes A Clinically Recognizable Syndrome Characterized By Severe Prenatal And Postnatal Growth Restriction And Neurodevelopmental Abnormalities

Phenotypic Variation In Multiple Congenital Anomalies-hypotonia-seizures Syndrome Type 1 Due To Compound Heterozygous Pign Variants: Case Study Of Three Individuals

Genotype-first Analysis Is An Effective Strategy For Identifying Diagnostic Variants In Known Disease Genes And Candidate Variants In Novel Genes.

A New Genetic Variant Identified In The GUCY2C Coding Sequence Results In Ion Homeostasis Dysfunction In The GI Epithelium Causing Chronic Diarrhea

Multisite Evaluation Of A Single-tube SMN1/2 PCR/CE Assay System That Assesses Copy Number And Expanded Content For Spinal Muscular Atrophy

Ambiguity In Evaluating Pediatric Patients With Clinical Diagnostic Criteria For Neurofibromatosis Type 1

Dual Genetic Diagnoses Detected Through Chromosomal Microarrays

The Clinical And Molecular Spectrum Of Patients With Parenchymal Brain Calcification In The NIH Undiagnosed Diseases Program (UDP) Cohort

Laboratory Genetic Counselors Influence Ordering Practices By Promotion Of Clinical Guidelines

Hoyerall-Hreidarsson Syndrome: A Rare Severe Monogenic Telomeropathy

Assessing The Secondary Genetic Findings In Patients Carrying The Recurrent 15q11.2 Deletion: A Single Laboratory Experience

Broadening The Phenotypic Spectrum For De Novo Missense Variants In TRAF7

Implementation Of Sex Identification And Sample Tracking Into Clinical Genomic Analysis Workflows

Genotype-phenotype Correlations And Characteristics Of Individuals With Disease-causing Variants In DSP

Re-evaluation And Re-classification Of Variants Of Uncertain Significance In Inherited Cardiac Conditions

X-Linked Chondrodysplasia Punctata: Clinical Phenotype, Genetics, And Management

Variable-sized Deletions Of 15q24 Region Detected By Microarray, Exome Sequencing, And Bionano Optical Mapping

Analytical And Clinical Validation Of A PCR/CE Assay System For The Diagnosis Of Fragile X Syndrome And Carrier Screening

Characterization Of Copy Number Variants Detected By Exon Deletion/duplication And Traditional Microarray Analysis As An Adjunct To NGS Testing

Renal Genetics Program: Cleveland Clinic Experience

Comprehensive Genomic Testing Of Meiotic Genes Mutations In Primary Spermatogenic Failure

Phenotypic Variability Of Retinal Dystrophy Patients Homozygous For A Common Pathogenic BBS1 Variant

Novel Silent Variant In Cltc Is Associated With Global Developmental Delay And Severe Seizures

Histological Characterization Of A Patient With Glycogen Storage Disorder Type IV Missed By Whole-exome Sequencing: Challenges Of Phenotype Prediction

Chromosomal Microarray And Whole Exome Sequencing In An Unselected Population Of Individuals With Neurodevelopmental Disorders

Gastric And Breast Cancers In A Large Pedigree With Blepharo-cheilo-dontic Syndrome Due To A Novel Cdh1 Mutation

Crispr-mediated Depletion Of Ribosomal RNA-derived DNA From RNA-seq NGS Libraries

Novel Ocular Findings In Dyggve-Melchior-Clausen Syndrome

Assessing The Positivity Rate Of Carriers Of Lysosomal Storage Disorders With Treatment Benefits

Comparison of Variant Callers on Whole Exome Sequencing Using Gatk and Deepvariant

A Rare Case Of Liveborn Mosaic Trisomy 12 With Severe Congenital Heart Disease

Association Between Maternal Diabetes And Birth Defects Impacted By Maternal Obesity, National Birth Defects Prevention Study, 1997-2011

Interpreting The Clinical Significance Of Intragenic Copy Number Variation In Methyl-CpG-binding Protein Domain 5 (MBD5)

Precision Diagnosis Of Persistent Isolated Microscopic Hematuria In Children

Winding Path To Diagnosis: Challenges Of Global Developmental Delay

New Insights Into Perinatal Features Of Kabuki Syndrome: Lessons Learned From Infants Diagnosed By Neonatal Exome Or Genome Sequencing

Hydrocephaly Associated With Compound Heterozygous Alterations In TRAPPC12

Niemann-Pick Type A Presenting As Feeding Challenges And Failure To Thrive

Exome Testing Improves Diagnosis in Case if Individual Presenting with Overgrowth and Global Developmental Delay Carrying a 22q11.2 Proximal Duplication

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

Appropriate Tissue Type For NGS-based Sequencing Is Crucial For Finding A Diagnosis

A Hypomorphic Post Glycophosphatidylinositol (GPI) Attachment To Proteins, Type 2 (PGAP2) Variant Identified In The Index Cases Of Mabry Syndrome

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

Fusing The Fields: Integrating Cytogenetic And Molecular Genetic Tests For Diagnosis Of Molar Pregnancies

Mabry Syndrome: The Mirror Of Fryns Syndrome

A Case Of 13q13.2q34 Deletion Syndrome With High Mosaicism In Blood But A Milder Phenotype

A Novel Pathogenic Variant Of Arf1 Causes Subependymal Heterotopia And Pierre Robin Sequence

Assessing Success Of A Quality Improvement Process For Tracking, Reviewing, And Correcting Constitutional Cytogenetic Test Orders In A Reference Laboratory

When Identical Is Not: Monozygotic Male/ Female Twins

Gene Mutations With Copy-neutral Loss Of Heterozygosity (cnLOH) In Myeloproliferative Neoplasms

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

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

Rapid Whole-genome Sequencing As A First-tier Test In Patients With Hypotonia Demonstrates A Positive Impact On Patient Management And Outcomes

Prevalence And Clinical Impact Of Pathogenic Variants In Genes Linked To Monogenic Diabetes In The General Population

Early Detection Of Spinal Muscular Atrophy (SMA) By QPCR And NGS

Expanding The 22q Deletion Syndrome Phenotype To Include Progressive Aortic Dilatation

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

XMEN Disease

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

Intrathecally Administered Recombinant Human Arylsulfatase A In Patients With Late-infantile MLD: Phase 2b Study Design

Uniparental Isodisomy As A Cause Of Autosomal Recessive Disease In A Child With Ataxia Telangiectasia

A Unique Finding Of 22q11.21 LCR22B-C Deletion In A 5-year-old Female: A Case Report

Direct To Consumer Ancestry Testing Reveals A 46,XX Male And Infertility

Diagnosis Of Foxg1 Syndrome Caused By Recurrent Balanced Translocation

Segawa Syndrome And Wilson Disease In A One Year Old Boy: Utility Of WES

The Value of WES Reanalysis: Case Report of Two Siblings With VAMP1-related Disorders

Chromosome 2q13 Sub-microdeletion In Patient With Congenital Cardiac And Hepatic Anomalies. Further Evidence For Role Of TMEM87B In Cardiac Development

SMAD6-related Craniosynostosis: Expanding The Phenotype To Include Dysplastic Teeth

Intrafamilial Variability Of Smith-Magenis Syndrome In Two Siblings With A Nonsense Variant In RAI1

Intra-familial Variability And Unique Features In A Sibship With Maternally Inherited Kmt2e-RelatedNeurodevelopmental Disorder

Severe Respiratory Distress, Chronic Constipation & Absence Of Thrombocytopenia As Distinguishing Features In A Case Of 10p12-p11 Microdeletion Syndrome

A Novel Homozygous Tti2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability

Expanded Carrier Screening In A Consanguineous Couple Reveals Possible Misdiagnosis Of Their Deceased Child

Clinical And Genetic Mutation Analysis Of 6 Chinese Cases Of Fructose 1,6 Bisphosphatase Deficiency

A New Report Of A Truncating Variant In The CSNK2B Gene And Review Of The Literature

Feeding And Respiratory Problems In Infants With Spondyloepiphyseal Dysplasia Congenita (SEDC)

Craniosynostosis - A New Feature Of Oculo-facio-cardio-dental Syndrome

Clinical Genetic Testing Identifies Novel Variants in PCDH19 and CDKL5 Causing X-linked Epilepsy Syndromes

Expanding The Phenotype Of SVBP-related Disorder

Clin.iobio Analysis Of A Complex Congenital Heart Disease And Heterotaxy Wgs Case Reveals De Novo Variation In Rnf40

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

Pegunigalsidase Alfa, Novel Pegylated Enzyme Replacement Therapy, Evaluated In Fabry Patients With Progressing Kidney Disease - RCT Study Design

Gene Disruptions In Rare Balanced Chromosomal Structural Rearrangements Provide Novel Loci As Candidates For Understanding Genetics Of Infertility

Verification Of A Single-tube PCR/CE Kit For SMN1/2 Copy Number And Variants Associated With Gene Duplication And SMA Disease Severity

Phenotypic Heterogeneity Of 7q21.3 Microdeletion In Multiple Family Members

Bi-allelelic Variants In Pnpla6 Associated With Parkinsonsim In Addition To Spastic Paraplegia Phenotype

Phenotype And Mutation Expansion Of PHACTR1-related Disorders

Aicardi-Goutières Syndrome: First Patient Reported With Craniosynostosis

Co-occurrence Of NGLY1 Related Congenital Disorder Of Deglycosylation And ACTL6BRelated Neurodevelopmental Disorder In A Pakistani Male

Diagnosis Of Vici Syndrome Based On Posthumous Review Of Sibling's Test Result: Highlighting The Importance Of Family Member Record Review

Expanding The Phenotype: A Case Report Of A MED12 Variant

A Novel Chromosome 18 Deletion, Chromosome 5 Duplication Translocation Causing Facial Dysmorphology And Global Developmental Delay

A Case Report Of Non-mosaic Trisomy 22 Liveborn With A Microdeletion At 22p13.2

Hypotonia And Dolichocephaly In Two Afro-caribbean Siblings Caused By Homozygous Variants Of The Nalcn Sodium Channel

Mayer-Rokitansky-Küster-Hauser Syndrome With Pulmonary Hypoplasia: Discordant Triplet Females

Kidney In Galloway-Mowat Syndrome: Renal Histopathological Changes With Age And Disease Progression

An 8mb 9q31.2q32 Deletion In A Two Year Old Girl With A Structural Brain Abnormality

Novel Microarray Findings Of 4q31.21-q31.3 Dup/4q34.3-q35.1 Del In Child With Developmental Delays, Physical Features, And Social Challenges

Case Report Of A 15-month-old Male Infant With Gaucher Disease Type 3c Due To Homozygous D409h Mutations And Review Of The Literature

A Novel Case Of Trim8 Mutation Presented With Childhood Onset Seizure And Focal Segmental Glomerulosclerosis

Milder Clinical And Biochemical Phenotypes Of Isolated Methylmalonic Acidemiaassociated Witha Novel Variant C.1663g>A In The Mmut Genein 30 Chinese Patients

The Extraordinary Babies Study: Medical Features In 137 Prenatally Diagnosed Infants With Sex Chromosome Trisomy

Nonsense Variants In Tab2 Associated With Syndromic Cardiac Presentation

A Rare Missense Variant In GORAB Causes Geroderma Osteodysplastica

Large 1q24.3-q42.3 Duplication With Severe Post-natal Growth Deficiency, Loss Of Developmental Milestones, And Early Death

Computationally Assisted Biocuration Augments Data Capture For Variant Curation Expert Panels

Recurrent CTBP1 Mutation Presenting As Congenital Fiber Type Disproportion

A Novel De Novo Variant In MAP3K7 Identified In A Patient With Features Overlapping Cardiospondylocarpofacial Syndrome And Frontometaphyseal Dysplasia 2

A Patient With Ring Chromosome 10 And Mosaicism Of A Derivative Cell Line: Difficulties In Counseling For A Complex Genotype

An Additional Case Report Of PHF21A Mutation Provides Further Support For Association With Intellectual Disability, Epilepsy, And Overgrowth

A Unique Female With An X-linked Neurodevelopmental Disorder

Novel Pathogenic Variant In CHD3: A Snijders Blok-Campeau Case Report

Dravet Syndrome : Multiple Faces Of Scn1a Mutations

De Novo EEF1A2 Variant Causing Epileptic Encephalopathy

Truncating Variants In RNF13 Cause Microcephaly, Cortical Visual Impairment, Increased Tone, Irritability And Hearing Loss

Cornelia De Lange And Her Phenocopies

Marshall-Smith Syndrome (MSS) In Two Patients Of Afro-Caribbean Ancestry

A Case Of Mucolipidosis Type IV Identified Via Exome Slice; The Importance Of Utilizing Exome Slice For Difficult To Diagnosis Cases.

Kyphoscoliotic Type EDS Caused By Compound Heterozygous Mutations In Fkbp14 Including A Novel P.lys190del Mutation

A Case Of CREBBPExon 31 De Novo Missense Mutation Presented With Insomnia And Intellectual Disability Without Rubinstein-Taybi Syndrome Phenotype

Atypical Diagnosis Of Neuraminidase Deficiency: A Case Report

Genetic Medicine In A Multi-disciplinary Cleft Clinic At A Tertiary Care Center: A 7 Year Experience

A De Novo Missense Variant In The DEAD-box Gene EIF4A1 Detected In Two Children With Congenital Malformations And Developmental Delay

Blistering Babies: A Case Report Of A Family With Epidermolysis Bullosa

First Reported Case Of A 4-year-old Boy With 49,XXXXY And Neurofibromatosis Type 1 (NF-1)

Case Report Of The First Female With TAF1-related X-linked Syndromic Intellectual Disability

Cars2 Mutations- An Emerging Neurologicalphenotype Withstroke-like Episodes?

Acid Fast Clue To A Rare Primary Immune Deficiency- BCGiosis In A 2 Month Old Baby

Influence Of The MTHFR Single Nucleotide Polymorphisms In The Susceptibility Of Preeclampsia: Systematic Review And Meta-analysis

Early Diagnosis Of Chromosomal Deletion 1p32-p31 By SNPs Microarray Improve A Better Prognosis.