Impact of Implementing Customized ACMG/AMP Variant Interpretation Guidelines to the BTD Database

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Early-Onset Renal Cell Carcinoma: Assessment of Germline Genetic Testing Criteria

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Neuropsychiatric Comorbidities Self-reported by Interstitial Cystitis Patients on an Online Peer Health Network

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Growth Patterns in Subjects with Mucopolysaccharidosis VII

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Disclosing Whole-Exome Sequencing Results to Minors: Perspectives from Low-Income Pregnant Latina Women

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Incidental Diagnosis of Birt-Hogg-Dube Syndrome in a Newborn: When Reported Primary Findings are Instead Secondary Findings

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Automated Classification of Copy Number Variants Based on 2019 ACMG Standards

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Variants of uncertain significance in multi-gene cancer panels: a comparison between 2017 and 2020 in a diverse urban population

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2021 ACMG Abstracts

Identification of Adult Patients with Significantly Elevated Homocysteine Due to Inborn Errors of Metabolism, Using Key Existing Clinical Data Points

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Diagnostic Yield of Archer FusionPlex PanHeme and Solid Panels: Two-Year Experience from a Pediatric Tertiary Care Hospital

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Elsevier - Molecular Genetics and Metabolism

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The Newborn Screening Experience of the Marshallese Population in Northwest Arkansas

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Eye, Ocular Adnexa, and Facial Manifestations of Tetrasomy 18p: Case Report and Literature Review

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Clinical Validation and Reporting of Noninvasive Prenatal Testing for Fetal Aneuploidy Detection

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Ethical Considerations in the Application of Advanced Genomic Testing for a Donor-Conceived Child

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Clinical Utility of Integrated Cytogenetic Methodologies in the Identification and Characterization of Genetic Aberrations in B-Lymphoblastic Leukemia with Hypodiploidy

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An Exploration of Coping and Resiliency in Adults with Mitochondrial Disease

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Management of Citrullinemia Type 1 Without the Use of Medical Formula

A New Translocation Partner for CBFB in Acute Myeloid Leukemia, t(10;16)(p13;q22)

Novel HIVEP2 pathogenic variant in a patient with rapid, severe brain atrophy. Second condition, or expansion of the phenotype?

Future Trends in Clinical Genetics Services: Exploring the Perspectives of Canadian Genetics Professionals Using the Delphi Method

Next-Generation Cytogenomic Characterization of Prenatal Cases by Optical Genome Mapping

Health Disparities Stemming from Race and Ethnicity Differences: Best Practices for Reporting Demographics in Newborn Screening Research

Cytogenomic Microarray Analysis As a First-tier Clinical Diagnostic Test: Kaiser Permanente, Southern California Permanente Medical Group Experience

Experiences of Adults Living and Coping with Primary Mitochondrial Disease

Folinic Acid Initiation in FOLR1-Related Cerebral Folate Transport Deficiency

Atypical Teratoid Rhabdoid Tumor in a Child With Neurofibromatosis Type 2: A Novel Dual Diagnosis

Neonate with Schwachman-Diamond syndrome presenting with Short Long Bones prenatally and postnatal features of Osteopetrosis

Screening for Duchenne and Related Muscular Dystrophies in North Carolina Through the Early Check Newborn Screening Pilot Study

Generation of a Prenatal Workflow for Identification of Structural Variation by Optical Genome Mapping (OGM)

Parental Depression and Stress Associated with Newborn Screening for Complex Disorders

Molecular, biochemical and neuropathological characterization of novel PEX7 deletion variants in patients with classic (severe) Rhizomelic Chondrodysplasia Punctata type 1

A Genetic Counselling Protocol for the Return of Genomic Sequencing and Serological Results to COVID-19 Positive Patients: GENCOV Study Canada

Whole Exome Sequencing Shows Oligogenic Inheritance as a Pathogenic Mechanism for an Atypical Leigh Syndrome in a Pediatric Patient

Evaluation of Barriers to Referral for Cancer Predisposition Syndromes in Pediatric Oncology Patients

GATAD2B-associated Neurodevelopmental Disorder (GAND): Insights using Cellular Modeling with Patient-Derived IPSCs

Three Program Enhancements to Advance Population Genetic Screening in a Community Health System During 2020

Creating a rational list of X-linked disorders for inclusion on reproductive carrier screening panels

Design of a Web-Based, Participatory Education Program on Clinical Applications of Whole Genome Sequencing

Improving and Accelerating Clinical Molecular Diagnosis of Severe Hemophilia A with Optical Genome Mapping Technology

Genetic Evaluation for Acute Recurrent Pancreatitis or Chronic Pancreatitis: A Single Center Experience

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other disorders associated with lactic acidosis

Case Report: Acute Myeloid Leukemia With CBL p.C384G Mutation

Diagnostic Power and Clinical Impact of Exome Sequencing in a Cohort of 500 Patients with Rare Diseases

Implementing Early Exome Sequencing to Shorten the Diagnostic Odyssey: Identifying Barriers and Facilitators through Clinician Focus Groups

Prenatal Genetic Screening and Diagnostic Testing during the COVID-19 Pandemic in the Bronx, NY

Taking an Anti-Racist Posture in Scientific Publications in Human Genetics and Genomics

Exploration of genetic variation beyond leukocyte-derived germline DNA in a pediatric rare disease cohort

Two Genetic Counselors Walk into a Primary Care Clinic

Progressive Worsening of Central Nervous System Phenotype in Children with Classic Galactosemia: a Cross-Sectional Analysis

Expanding the Phenotypic Spectrum of Internal Tandem Duplications in Somatic Disease

In-Frame Deletion in SPOP Leads to Nabais Sa-de Vries Syndrome

Newborn Screening Pilot Study in Time of Pandemic: Duchenne Muscular Dystrophy Pilot Project Experience

Using Chromosomal and Single-Gene Non-Invasive Prenatal Testing to identify the cause of Congenital Heart Defects

Are Clinicians Ready for Genomic Medicine?: Assessing Educational Needs

Chromosome 8q22.3q23.3 interstitial duplication: a rare case report and review of the literature

Genetics Simulation as a Safe Training Tool for High-Stakes Conversations

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

Relief, empowerment, and uncertainty: Perspectives of clinical hereditary cancer population screening participants

Atypical Leigh Syndrome Associated with Compound Heterozygous Variants in NDUFAF5

What trends can we see with consumer-initiated testing orders and telehealth genetic counseling pre- and post-COVID?

Global Approach to Prenatal Testing

The Impact of COVID-19 on Pediatric Diagnostic Odysseys

Utilization of next generation sequencing to characterize duplications identified through chromosomal microarray

Post-test Outreach: A Valuable Tool in the Consumer-Initiated Genetic Testing Space

A cohort of citrullinemia type 1 in Iran: Five novel pathogenic variants in the ASS1 gene

Two Novel Case Reports of NTHL1 Tumor Syndrome Support Prior Claims That NTHL1 is a Multi-Tumor Predisposition Gene

Ophthalmic Manifestations of Lamb-Shaffer Syndrome: Case Presentation and Literature Review

Provision of reproductive and cancer genetics services during COVID-19 pandemic

Follow-up of an abnormal NIPS result (T13) leads to identification of mosaic 13q31.1q34 tetrasomy associated with a neocentromeric sSMC

A clinical laboratory's experience with remote onboarding and virtual training of variant curators for carrier screening

Standardizing the Classification of Recurrent Copy Number Variants – Incorporation of Sub-clinical Phenotype Data for CNVs with Reduced Penetrance

Clinical Review of Diagnostic Testing: Connecting Physicians and Laboratories

Association of KCNJ11rs5219 gene polymorphism among people with type 2 diabetes mellitus in Mongolia

Germline Findings Based on Patient Phenotype of the Texas KidsCanSeq Cohort: An Interim Analysis

SETD1B mutation identified in 15-year-old male with neurodevelopmental issues including: intractable seizure disorder, intellectual impairment, and autistic features

Weight Gain and the Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation Carriers

Reproductive Outcomes in Carriers of Chromosomal Reciprocal Translocations

The Effect of Pedagogical Methods on Attitudes and Understanding of Direct-To-Consumer Genetic Testing

Case report: Mosaic maternal segmental isodisomy at 2q14.2-qter as a novel cause of NEB-associated Nemaline myopathy

Success Rates in Providing Genetic Results Reporting Services

A Normal MRI Leading To A Delayed Diagnosis of Metachromatic Leukodystrophy

Detection of t(5;14)(q31.1;q32.1) [IGH/IL3] in B-lymphoblastic leukemia  by Next Generation Sequencing

Mini-COMET: Individual-level treatment responses in infantile-onset Pompe disease participants receiving avalglucosidase alfa or alglucosidase alfa who previously received alglucosidase alfa

Newborn Screening Saves Lives: The Importance of Longitudinal Data to Inform Health Outcomes

Prenatal Diagnostic Testing Challenges with Novel Gene Alterations in KCNMA1-linked Channelopathy: A Case Report

The Long Road to Rare Disease Diagnosis: A Hero's Journey

A genotype-first-approach for disease-gene validity investigation on COL4A1-asscoiated congenital anomalies of the kidney and urinary tract

Factors Influencing Genetic Counseling Applicants' Match Rank Order

Perceptions and Use of Phenylbutyrate Metabolite Testing in Urea Cycle Disorders: Results of a Clinician Survey

Trisomy 3 and CBFA2T3-GLIS2 fusion in a child with acute megakaryoblastic leukemia without Down syndrome

Corneal Crystals as a Presenting Sign for Smoldering Multiple Myeloma: A New Case and Literature Review of This Rare Association

Use of Social Media in Rare and Undiagnosed Disease Research: A Systematic Review

Recurrent Affected Pregnancies Ultimately Leads to Genetic Diagnosis: A Case Report Involving Candidate Gene CYS1

Newborn Screening Translational Research Network: Translating Evidence-Based Practices to Enhance Parent Engagement

Reinterpretation of microarray copy number variants of uncertain significance increases diagnostic yield

Parenting Young Daughters with a Prenatal Diagnosis of Trisomy X: A Phenomenological Analysis of Mothers' Experiences in the Early Years

Urinary Glucose Tetrasaccharide Correlates with Phenotype in Pompe Disease in the Newborn Period

Proactive Missense Variant Interpretation: A Deep Mutational Scan in Mammalian Cells

Significant Unmet Need in Infants with Mucopolysaccharidosis VII and Non-Immune Hydrops Fetalis: A Summary of Cases

Determinants of Turnaround Time in a Rapid Genome Sequencing Program

Whole Exome Sequencing Identifies Numerous Variants in a Deceased Fetus with Multiple Congenital Anomalies: Which One(s) is Our Likely Answer?

Virtual and Asynchronous Teaching of Computer-Assisted Diagnosis of Genetic Diseases Seen in Clinics

De Novo Variant in GNB2 Associated with Neurodevelopmental Disease

Clinical utility of a sponsored gene panel testing program for pediatric epilepsy and CLN2 disease diagnosis: Results from 10,853 tests

Hypermethioninemia due to Adenosine Kinase Deficiency: Novel Mutations in ADK Gene diagnosed by Rapid Whole Genome Sequencing

Optical Genome Mapping Detects Rare Genetic Drivers in Pediatric B-Lymphoblastica  Leukemia

Disease Characteristics, Early Effectiveness, and Safety of Vestronidase Alfa for Treatment of Mucopolysaccharidosis VII Assessed in Novel Disease Monitoring Program

Unexpected Diagnoses in Patients with Abnormal Newborn Screening

Non-invasive prenatal screening by Vanadis LifeCycle Platform

International Plan of Education, Awareness, Celebration, and Commemoration around the Bicentennial of the Birth of Gregor Mendel, July 22, 1822

Phenotypic characterization of JARID2-related intellectual disability: A case series

Somatic Genetic Testing in Cancer: How the Medical Genetics Provider Can Help

TRMU Deficiency: a Broad Clinical Spectrum Responsive to Cysteine Supplementation

Clinical and Molecular Features of Pediatric Cancer Patients with Lynch Syndrome

One Stone,Two Birds: How a WGS-enabled Diagnostic Journey Transforms Into a Precision Population Health Service for the 21st Century

Piloting Newborn Screening for Neuromuscular Disease with Data Collection Tools Developed by the Newborn Screening Translational Research Network

Case Report of Severe Prenatal Presentation of Osteogenesis Imperfecta Caused by Uncommon IFITM5 mutation

Medical Students' Knowledge of, Experiences with, and Attitudes Towards Direct-to-Consumer Genetic Testing.

Clinical and cytogenetic findings in a phenotypic female with a 46,XY karyotype and complete gonadal failure

Genomic Sequencing Results Disclosure in Diverse and Underserved Populations: Themes, Challenges and Strategies from the CSER Consortium

Rapid Measurement of Creatine, Creatinine, and Guanidinoacetate from Dried Blood Spots: A possible screening assay for Guanidinoacetate methyltransferase (GAMT) deficiency

Amplification of ERG/ETS genes is a recurrent evolutionary event in myeloid malignancies and distinct from iAMP21 in B-lymphoblastic lymphoma

A Novel AIFM1 Pathogenic Variant In A Teenage Male With Recurrent Joint Dislocations And Acrogeria

Clinical Genomic Population Health Testing for 431 Genes Implemented Through Family Medicine Practices: the Vermont Experience

A retrospective study assessing the performance of expanded carrier screening in consanguineous couples

Identification of structural variation in constitutional disorders by optical genome mapping

Clinical utility of a sponsored, no-cost skeletal dysplasia gene panel testing program: Results from 850 tests

The Importance of Clinical Judgement in Interpreting Molecular Results: A Case of Glycogen Storage Disease Type III?

B-cell Acute Lymphoblastic Leukemia with iAMP21 in a Patient with Down Syndrome Due to a Constitutional Isodicentric Chromosome 21

Systematic Analysis of Genetic Variation of Duchenne Muscular Dystrophy and Implication for Cancer

The Majority of Participants from a Multiethnic Biobank Elect to Receive Medically Actionable Genomic Results

Where There's a Y There's a Way: Monosomy X by NIPS but Male by Ultrasound

Familial Segregation of Neuropsychiatric Phenotypes and a 5'UTR Deletion in PTPRD

Two Unrelated Cases of Mild Methylmalonic Acidemia-Mutase Deficiency with Shared Variant Treated with Vitamin B12 Only

Contraceptive Use and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

IMAGe Syndrome: Further Delineation of the Clinical Phenotype of PCNA Binding Domain CDKN1C Variants

Qualitative assessment of a patient-facing hereditary cancer risk assessment tool: Barriers and solutions

Misdiagnosis rate when conventional cytogenetic analysis on chorionic villi is performed on only one cell layer, cytotrophoblast or mesenchyme, alone

Extending and Adapting the Functions of Genetic Laboratories During the COVID-19 Pandemic- Challenges and Successes

Impact of COVID-19 on Newborn Screening in South Texas

Comprehensive analysis of WGS and RNA-seq data to identify genetic variations in a patient with clear cell renal carcinoma

Path to Diagnosis and the Caregiver's Perspective on the Impact of Creatine Transporter Deficiency

Analysis of CDC Tier 1 Genomic Conditions Identified by a Population Genomic Screening Program

Prenatal Diagnosis of an FLNB Associated Skeletal Dysplasia

Reducing the time to diagnosis for Spinal Muscular Atrophy

From the Voice of Patients and Caregivers: Burden of Illness in Infantile Onset ABCC6 and ENPP1 Deficiency (GACI and ARHR2)

Multi-gene panel testing results prompt frequent and guideline adherent changes to cancer risk management recommendations based on clinician report

A PRPH2 Arginine Missense Mutation in Central Areolar Choroidal Dystrophy with Phenotypic Variability Among Family Members

Genomic Screening Identifies Individuals at High Risk for Hereditary Transthyretin Amyloidosis

Fetal Aortic Dilation in a Mother with Clinical Diagnosis of Ehlers Danlos Syndrome

WNT5A Haploinsufficiency and Gestational Diabetes in a Newborn with Multiple Congenital Anomalies: A Likely Gene-Environment Interaction

The Natural History of Vitamin B12-Responsive Cobalamin A-Type Methylmalonic Acidemia

Evaluating the impact of an artificial intelligence tool: Improving high-risk patient identification for hereditary breast and ovarian cancer genetic testing

Clinical Characterization of Individuals with the Distal 1q21.1 Microdeletion

Natural Language Processing of Clinical Notes Reveals a Quantitative Indicator of Drop-Off in New Phenotype Accumulation

Simultaneous Detection of Copy Number and Single Nucleotide Variations Improves Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes

Detection of a Cryptic Inverted Duplication in the RAB27A 5'UTR Following Non-Diagnostic WES in Two Cases of Atypical Griscelli Syndrome

Case Report of Acute Myeloid Leukemia and Dilated Cardiomyopathy in a Pediatric Patient with D-2-Hydroxyglutaric Aciduria Type I

Germline Pathogenic Variants In Pakistani Patients Evaluated At A Hereditary Breast Cancer Clinic

Complexities in Interpretation and Management of Rare Disease in the ICU Setting: A Severe Case of TRMU-Related Disorder

Telemedicine Challenges and Strategies for the Medical Nutrition Therapy of Patients with Inherited Metabolic Disorders During the COVID-19 Pandemic

Fetal Fraction Amplification in Noninvasive Prenatal Screening: Impact on Fetal Sex Chromosome Analysis

Performance of In Silico Splice Tools Used at the GGC for Decision-Making in Molecular Diagnosis

Baby-COMET Methodology: A Study of the Efficacy and Safety of Avalglucosidase alfa in Treatment-naïve IOPD <= 6 Months of Age

Divergent Payor Medical Policy leads to Gross Disparities in Access to Hereditary Breast and Ovarian Cancer Genetic Testing

Pharmacological inhibition of the primary endocannabinoid producing enzyme, DGL-α, induces ASD and co-morbid ASD phenotypes in adult C57BL/J mice

Clinical Geneticists' and Primary Care Physicians' Responses to Hypothetical Clinical Scenarios

Chromosomal Microarray Testing of Products of Conception Tissues: Experiences from a Hospital Cytogenetics Laboratory

Genetic basis of oculopharyngeal muscular dystrophy: Detection of alanine repeats in PABPN1 gene by next generation sequencing

The role of biomarkers for the follow up of infants with positive newborn screening results for Fabry disease

Universal Multi-Gene Panel Testing for Individuals with Pheochromocytomas and Paragangliomas

Clinical utility and improved speed of analysis by automated variant prioritization system in genetic hearing loss

Uptake and Utilization of Germline BRCA1/2 Testing for Thai Woman with Breast Cancer; A Pilot Study for Cost-Effective Screening Implementation

Prenatal Diagnosis of Two Co-Occurring Genetic Conditions: FOGX1 Contiguous Deletion and Becker Muscular Dystrophy

Next Generation Sequencing Panel Screening of 320 Patients with Clinically Unclassified Systemic Autoinflammatory Diseases

A Long-term, Prospective, Multicenter, In‑clinic and Online Disease Monitoring Program (DMP) for Patients With Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)

A novel TET2 intronic variant leads to alternative splicing in patients with myeloid neoplasm

Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR gene : A rare cause of life-threatening hypercalcemia

Improving Access to Genetics Services: Building on the National Evaluation of the Regional Genetics Networks for the Next Four Years

Full-Length Sequencing of CYP2D6 Variants with PacBio HiFi Reads

Successful Liver Transplantation in an Adult Patient with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

Knowledge and Use of BRCA Genetic Testing among Chinese and Non-Hispanic White Breast Cancer Survivors

Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding

Testing and Extending Recommended Algorithms for Identifying Genetic Disease-Related Encounters in Pediatric Patients

A robust and sensitive method for the detection of mitochondrial DNA mutations from urine sediment and other low-quality DNA sources

Self-Reported Neurobehavioral Impact of Phenylketonuria in Adult PKU Patient Registry Participants

Clinical Utility of Optical Genome Mapping (OGM) in Cytogenetic Analysis of Brian Tumors

Outcomes and genotype-phenotype correlations in 45 individuals with HADHA and HADHB mutations enrolled in Inborn Errors of Metabolism Information System

Experiences of telemedicine in genetic practices during the COVID-19 pandemic

Preimplantation Genetic Testing for Single Gene Disorders with Human Leukocyte Antigen Matching and Aneuploidy Screening: In Vitro Fertilization Cycle Outcomes

Natural History and Systematic Review of Ophthalmic Findings in Peroxisome Biogenesis Disorders-Zellweger Spectrum

Genomic Characterization of 747 Pediatric Hematological Malignancies<

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

Returning Genetic Information and Value to All of Us Research Program Participants: Lessons Learned and Looking Ahead

Long-read Genome Sequencing for the Molecular Diagnosis of Neurodevelopmental Disorders

Improving the Performance of Newborn Screening for Mucopolysaccharidosis Type II with Second Tier Biomarker Testing

Efficient workflow for detection of clinically relevant abnormalities in leukemias according to NCCN guidelines

Growth Hormone Therapy in Children with Schaaf-Yang-Syndrome

Non-Indication Based Genetic Testing in the Workplace: A Qualitative Cross-Case Comparison of Genetic Testing Vendors

Gene conversion challenges in preimplantation genetic testing for monogenic disease (PGT-M)

Retrospective Study of the Disease Course in Pediatric Patients With Severe MMA Caused by MMUT Mutations: Design and Baseline Characteristics

A Novel De Novo Intronic Variant in ITPR1 Causes Gillespie Syndrome

G6PD Deficiency and Pharmacogenetics: Safer Prescribing with Medical Genetics Summaries (MGS)

Application of Constitutional Rapid Genome Sequencing to Detect Infectious Disease in a Critically Ill Neonate

SARS-2 related HUPRA Syndrome Presenting with Neonatal Lactic Acidosis

Clinical Outcomes of Major Clinical Events and Emergency Triheptanoin Use in Critically Ill Patients With Long-chain Fatty Acid Oxidation Disorders

Motivations, Concerns, Expectations, and Knowledge about Preemptive Population Genetic Testing: Real World Evidence from Imagenetics METRICS

Evaluating the Mutational Spectrum of SIN3A Alterations: A Case Series of Patients Profiled by Next Generation Sequencing

Improved sample collection method for nicotinamide adenine dinucleotide measurement from whole blood

Case report of oldest described adult with SETD2 variant: an intersection of SETD2 gene neurodevelopmental and tumor suppression roles

Newborn Screening for Mucopolysaccharidosis Type II: A Single Center's Experience

Newborn Screening Second Tier Molecular Testing is Critical for Identifying True Positives in Lysosomal Storage Diseases and X-linked Adrenoleukodystrophy

Timing of Newborn Blood Collection Alters Screening Performance for Metabolic Disorders

More Than a Fancy Exome: Unique Capabilities of Genome Sequencing for Pediatric Rare Disease Diagnosis

Parental Perceptions of Genomic Sequencing for Expanded Newborn Screening

Buccal Swab Testing with the AmplideX PCR/CE SMN1/2 Plus Kit that Assesses Copy Number and Critical Mutations for SMA

Cobalamin J Disease Detected on Newborn Screening: Novel Variant and Normal Neurodevelopmental Course

Contribution of Mendelian Disorders in an Unbiased Pediatric Neurodegeneration Cohort

The Newborn Screening Translational Research Network: Accelerating the Nomination of New Conditions Through Newborn Screening Pilot Studies

Building a comprehensive teaching repository of whole slide images

Rare Presentation of FDX2-Related Mitochondrial Myopathy

Could deletion of RBPJ be the Cause of Midline Scalp Defects in Wolf-Hirschhorn Syndrome?

Utilization of In-Patient Genetic Testing Services at Duke University Health System

Incidental Detection of Maternal Risk for the 22q11.2 Deletion by SNP-Based Noninvasive Prenatal Testing: Implications for Pregnancy Management.

D-bifunctional protein (DBP) deficiency: Expanding the Phenotype and Proposal for Puerto Rican Founder Allele

A Case of p53 Related Intellectual Disability, Seizures, Microcephaly, Anemia and Small Stature

MTBAct: A Precision Oncology Maturity Model Towards Defining Best Practices for Molecular Tumor Boards

Expanding the mutational spectrum for branchiooculofacial syndrome: a novel nonsense variant

Clinical Characterization of 20 Infants Diagnosed with Late-Onset Pompe Disease after Positive Newborn Screening

Novel Variant in TGM6 Gene in Patient with Spinocerebellar Ataxia 35 Exhibiting a Rapid Onset and Progression of Movement Disorder

Health Disparities in Genetic Testing for Patients Receiving Government-funded Insurance Benefits

Using Ethnicity to Adjust Risk and Provide Accurate Counseling for Alpha-Thalassemia

Comparison of Psychosine Analysis in Dried Blood Spots and Red Blood Cells in Krabbe Disease

Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States

A Comparison of Genotyping and Sequencing Preemptive Genetics Screening Programs in Primary Care Settings

Concurrent inversion(3)(q21q26.2) and translocation(3;21)(q26.2;q22) in the acceleration phase of chronic myeloid leukemia

Classification of Variants in ACADVL Following the 2015 ACMG Variant Classification Guidelines and Correlation With Clinical and Biochemical Data

Novel BCL11A variant Arg3Cys in a patient with intellectual disability and persistence of fetal Hb

Successful Recruitment of Medically Underserved Populations into Genetic Studies: Lessons Learned from the CHARM Study

Genetic Screening of a Reportedly Healthy Population for Familial Hypercholesterolemia

ALG8-CDG: New Insights Into an Ultra-Rare CDG

Cytogenetic Microarray Copy Number Variants in Patients With Non-Syndromic, Single Suture Craniosynostosis

Patterns of Healthcare Utilization in a Pediatric Genetic Cohort

Next-generation sequencing identifies unexpected high frequency of patients with KIF1A associated Neurological Disorder (KAND) in a single center

All Grown Up and Nowhere to Go: The Current National State of Care For Adults with Inherited Metabolic Disease

Experiences of individuals with achondroplasia and their caregivers: interim results from qualitative studies

Preferences of women and their partners regarding access to and use of non-invasive prenatal tests in Quebec, Canada

Leveraging Unique Chromosomal Microarray Probes to Accurately Detect Copy Number at the Highly Homologous 15q15.3 Deafness-Infertility Syndrome Locus

Optimizing the Genetic Diagnostic Evaluation for Critically Ill Infants

Advocacy for Genetic Testing Access for Patients in Wisconsin

Expansion of the genotype and phenotype of NALCN channelopathies: an individual with biallelic variants in NALCN from the NYCKidSeq Study

Barth Syndrome Caused by a Novel TAZ Deletion through an Alu Element-mediated Mechanism: a Case Report

A Pathway to Precision Medicine for Aboriginal Australians: A Study Protocol

Utility of Incorporating Clinical Information in Variant Interpretation for the Fibrillin-1 Gene

Deletion of SMC3 in an individual with heart defects and syndromic features: Is haploinsufficiency an unrecognized disease mechanism?

Exploring Telemedicine for Genetics Service Delivery in a Wisconsin Plain Community

NeuroSCORE: A Genome-wide OMICs Based Model to Identify Disease Associated Genes of the Central Nervous System

Functional characterization of recurrent truncating variant in UBAP1 associated with hereditary spastic paraplegia

Assessing Genetics Policies of State Medicaid Programs

Optical genome mapping enables constitutional chromosomal aberration detection: proof-of-principle study with 85 samples

Ophthalmic Features in Wieacker-Wolff syndrome: A Case Report and Systematic Review

eP538

Broad Implications of Sustained, Proactive Clinical Validity Curation

Childhood prevalence of achondroplasia in New South Wales (NSW) and the Australian Capital Territory (ACT), Australia

Experience Using a Combination of Variant Prioritization Tools in a Large Rare Disease Cohort

Loeys-Dietz Syndrome Caused by 1q41 Deletion including TGFB2 is Associated with a Neurodevelopmental Phenotype

Retrospective evaluation of in silico prediction tools, REVEL and CADD, for supporting level evidence (PP3/BP4) of genomic variant interpretation

Heterozygous ANKRD17 Loss of Function Variants Cause a Syndrome with Intellectual Disability, Speech Delay and Dysmorphism

Triploid Dizygotic Twin Pregnancy: Elucidating Meiotic Error Using STR Marker and Chromosomal SNP Microarray Data

Achondroplasia Caregiver Survey-A Global perspective on diagnostic pathways, healthcare management and personal impact from carers of children with Achondroplasia

Clinical Utility of NanoString Fusion Panel to Detect Actionable Gene Rearrangements in Fresh and Formalin-fixed Paraffin-embedded Cancer Samples

13-Year Longitudinal Study on a Male with 47,XYY and Neurodevelopmental Outcomes

A Comprehensive Genome Report for COVID-19 Patients: GENCOV Study Canada

Vosoritide for Children with Achondroplasia: A 60-month Update from an Ongoing Phase 2 Clinical Trial

Making the Case For Higher-level Classification of Results Reporting: Development and Implementation of Case-level Result Categories for Genetic Testing

Casimersen Treatment in Eligible Patients with Duchenne Muscular Dystrophy: Safety, Tolerability, and Pharmacokinetics Over 144 Weeks of Treatment

New CFTR Variant Testing Standards Promote Identification of Infrequent and Novel Variants, Which May Have Important Therapeutic and Fertility Implications

First Tier Rapid Whole Genome Sequencing Increases Diagnostic Yield and Changes Management in Children Admitted in Intensive Care

Using Pyrosequencing to Determine the Allele Origin of 15q Duplication Syndrome

Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: Case Report and Literature Review

Confirmation of Parentage in Clinical Genome Sequencing Cases Using Small Genotyping Array

The Point-of-Care Use of a Facial Phenotyping Tool in the Genetics Clinic: Enhancing Diagnosis and Education with Machine Learning

Development of a Data Model and Programmatic Tooling for Annotation of Functional Assay Evidence Used in Sequence Variant Interpretation

Standard Operating Procedure for Genetic and Metabolic Consults for Possible Non-Accidental Trauma

Novel Pathogenic Sequence Variants in Yin Yang 1 (YY1) Transcription Factor and Abnormal DNA Methylation Profile

Prescription Claims for Immunomodulator and Anti-Inflammatory Medications among Persons with Ehlers-Danlos Syndromes

Tailoring the ACMG/AMP Sequence Variant Interpretation Guidelines to the Unique Aspects of Germline ACADVL Variants

Using Projected Retained Ability Score to Assess Cognitive Development in Patients with Neuronopathic Mucopolysaccharidosis II Receiving Intrathecal Idursulfase-IT

Long-read Sequencing for Diagnosis in the Undiagnosed Diseases Network

Randomized, Placebo-Controlled Study of Lyophilized Formulation of SYNB1618 in Healthy Adult Volunteers

Identification of a novel t(X;10)(p11.3;q23.1) translocation disrupting MAOB in a patient with severe developmental delay using mate pair sequencing

KCNJ5 pathogenic variant p.Gly151Glu and its association with Familial Hyperaldosteronism and risk for Long QT syndrome

Optical Genomic Mapping Reveals Balanced and Unbalanced Cytogenetic Findings Associated with Tumor-forming Potential in a Prostate Cancer Cell line (M2205)

bAyesCMG: a high throughput computational tool for applying ACMG/AMP criteria and generating Bayesian pathogenicity probabilities

Many Clinical Laboratories Performing Next-Generation Sequencing Have No Future Plans to Migrate to GRCh38

Functional and Structural Analyses of Novel Smith-Kingsmore Syndrome-Associated MTOR-Variants Reveal Potential New Mechanisms and Predictors of Pathogenicity

Unbiased Machine Learning Methods to Predict the Limitations of Variant Calling in Homologous Genomic Regions Using Next-Generation Sequencing

Renal and secondary outcomes 1 year after switching from agalsidase alfa to pegunigalsidase alfa for Fabry disease (the BRIDGE study)

Defining the Genetic Etiology of Chronic Kidney Disease in Women Identifies Maternal-Fetal Health Risks

Promoter-mediated dysregulation of gene expression in autism spectrum disorder

Early Experience with a Broad NGS-Based Approach to Pediatric Kidney Disease

LMNA mutation in a patient with progeroid features and dilated cardiomyopathy

Utilization of Renal NGS Panel to Uncover Dual Diagnoses: 'APOL1-Plus' in Patients with Chronic Kidney Disease

Diagnosing Copy Number Variation Disorders via Multigene Panels

Phenotypic expansion and prenatal presentations of the TRPM3-related intellectual disability syndrome

Heterozygous Variants in PRPF8 are Associated with Neurodevelopmental Disorders

Haplotype-resolved germline structural variation underlying male breast cancer predisposition syndromes

Advanced Diagnostics and Genotype-Phenotype Resolution using Functional Genomics in >500 Neuromuscular and Neurological Disorder Patients

A Rare Case of Mosaicism for a Digynic Triploid Cell Line in an 8-year-old Male

Rapid Exome and Genome Sequencing in Critically Ill Pediatric Patients: 3-year Experience From the Children's Hospital of Michigan

Mate-Pair Sequencing and RNA Sequencing to Aid in the Diagnosis of a Patient with a Balanced Translocation

Birth Prevalence of Phenylalanine Hydroxylase Deficiency: A Systematic Literature Review and Meta-analysis

Detection of acquired uniparental disomy in clinical exome sequencing of pediatric patients with leukemia predisposition syndromes and its clinical significance

Long-Chain Fatty Acid Oxidation Disorders Gene Panel: Clinical Findings from a Sponsored Genetic Testing Program

The Epilepsy Genetics Initiative: A Final Summary

Phenom: A Prospective Clinical Study on the Clinical Impact of Phenylketonuria in Adults (307-902)

1q21.1 deletion size and associated clinical presentations

Cerebro-Oculo-Nasal Syndrome with Schizencephaly: A Case Report and Literature Review of CNS Malformations in a Very Rare Syndrome

A Rare 2p11.2 Microdeletion in an Infant with T cell Lymphopenia and an Abnormal Newborn Screen for Severe Combined Immunodeficiency

Exome Sequencing for Neurodevelopmental Disorders and the Effect on Patient Management – a Single Center Experience

Concomitant Mitochondrial Genome Coverage in Whole Exome and Whole Genome Sequencing

One-year Results of Olipudase Alfa Enzyme Replacement Therapy in Children with Chronic Visceral and Neurovisceral Acid Sphingomyelinase Deficiency

Analysis of X-Inactivation status in a Rett Syndrome Natural History Study Cohort

Ocular Features in Jeune Syndrome and Other IFT140-Related Ciliopathies

Experience Of Targeted Exome Analyses Of 130 Patients With Diverse Inborn Error Of Immunity Phenotypes

SouthSeq: Genome sequencing as a frontline genetic test in the NICU

A Combination of Long-range PCR and Long-read Sequencing Resolves Common, High-risk Dark and Camouflaged Carrier Screening Genes

Phenotypic variability within and between Loeys-Dietz syndrome-spectrum disorders

Fascioscapulohumeral Muscular Dystrophy Genetic Testing by Optic Mapping

Characterization of partial trisomy chromosome 11q in a patient with congenital anomalies and literature review

Characterization of liver GSD IX γ2 Pathophysiology in a Novel Phkg2-/- Mouse Model

Variable expressivity of Coffin Lowry syndrome in a female patient: a case report

Towards Implementation Whole Genome Sequencing as a First Tier Test in Genomic Testing

Measuring Phenylketonuria Burden of Illness: Development of the Phenylketonuria Symptom Severity and Impacts Scale as a Robust Patient Reported Outcome

Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework

A De Novo Case of Autosomal Dominant Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)

A Web-Based Educational Program to Support the Updated ACMG/ClinGen Technical Standards for Constitutional Copy Number Variant Classification

A rare homozygous microdeletion syndrome: hypotonia-cystinuria syndrome

PRKX/PRKY-Mediated Xp;Yp Translocations: A Significant Contributor to SRY-Positive 46,XX TDSD and Potential Risk of Recurrence in Common Yp Inversion Carriers

Novel 22q11.2 Duplication (LCR22A-LCR22H) in Two Sisters

Uniparental Disomy (UPD) of Multiple Chromosomes in a Newborn with a Complex Phenotype

Novel Clinical Model to Deliver Genetic Services from a Multidisciplinary Primary Care Team

Retrospective review of genetic testing for inherited bone marrow failure syndromes

Developing an Automated Analysis Framework to Benchmark Variant Calling Sensitivity and Specificity of Whole Exome Sequencing

Multiple molecular diagnoses in individual patients identified through whole genome sequencing

Assessment and Implementation of the Agilent Magnis and Alissa Clinical Informatics Platform for Whole Exome Sequencing

High Prevalence of Genetic Alterations in Infantile-Onset Cardiomyopathy

Robust Diagnostic Yield and Candidate Gene Discovery through Paired Exome Analysis in Vascular Malformation and Overgrowth

Genetic Diagnoses of Arthrogryposis by Clinical Exome or Microarray and Identification of a New Candidate Gene: ICE1

Chromosomal microarray analysis offers superior cytogenomic evaluation of products of conception as compared to standard karyotype

Evaluation of Dilated Cardiomyopathy in a Teenager Reveals Dual Genetic Conditions: Importance of Completing the Diagnostic Journey

Refining ClinGen Loss of Function Variant Recommendations for the Phenylalanine Hydroxylase (PAH) Gene: The PAH Variant Curation Expert Panel's Experience

NSD2-Related Disorder: Novel Variant and Previously Unreported Genitourinary Abnormalities

Reevaluation of Variants c.93C>G and c.993G>C in BRCA1 Gene

Diagnosing Rare Diseases in HD (HAZEL + DITTO)

The use of skeletal dysplasia gene panel for differential diagnosis of Mucopolysaccharidoses in Brazil: results from a pilot diagnostic program

KDM5C Gene Variant and Non-syndromic X-linked Intellectual Disability: An Updated Case Report

Novel microdeletions in the SOX5 gene in two patients with Lamb-Shaffer syndrome phenotype in the NYCKidSeq Study

ME/CFS: Whole Genome Sequencing Uncovers a Misclassified Case of Glycogen Storage Disease Type 13 Previously Diagnosed as ME/CFS

Retrospective review of mitochondrial genome analysis in over 7000 patients using clinical grade mtDNA sequencing

Frequency and Co-occurrence of Comorbidities in the Ehlers-Danlos Syndromes

Utilizing Population-based Genomic Data to Expedite the Curation of Genes and Genomic Regions for the ClinGen 'Dosage Sensitivity Unlikely' Classification

Identification of Genetic Modifiers Altering the Prognosis of Cystic Fibrosis in a Cohort of Young CF Patients

Novel Association of Congenital Neutropenia with a Homozygous Stop-gain Variant in SENP7

Complex Combined Trisomy 14 and 21 Mosaicism and Multisystem Involvement in a Newborn

Whole Exome Sequencing across Clinical Specialties within a Medical Center

MAPRE2-Related Disorder: Expanding the Neurodevelopmental Phenotype

Five Year Trends in DNA Bank Utilization Across Two Clinical Institutions

Medical Consequences of Unanticipated Monogenic Findings Identified through Exome Screening of Newborns in the BabySeq Project

Launch of the Gene Curation Coalition Database

A Newborn's Hyperinsulinemia Workup Results in Discovering Likely Cause of Father's Rhabdomyolysis: Expanding the Phenotype of KCNJ11-related Disorders

Novel Interstitial 2q12.3q13 Microdeletion Predisposes to Developmental Delay and Behavioral Problems

An Automated Variant Scoring System to Prioritize Mutations of Disease-Causing Pathogenic Variants Applicable in a Health Care Setting

Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias

Novel Pathogenic Variant in KCNJ2: An Andersen-Tawil Syndrome Case Report

Next-Generation Sequencing Panels for Hereditary Hearing Loss Testing With Approaches for Difficult-to-Sequence Regions

Congenital Cytomegalovirus Detection in Newborn Screening: an EonisTM Assay

A Novel Deleterious NOTCH2 Mutation (c.5422dup) on a Female with Premature Ovarian Insufficiency Without Symptoms of Alagille Syndrome 2.

The Yield of Thorough Record Review in the Undiagnosed Diseases Network

Biallelic NRAP Variants Are a Significant Cause of Dilated Cardiomyopathy

Third Familial Case of DNMT3A-Related Overgrowth Syndrome: Should We Be Screening for Cardiac Complications in These Patients?

A candidate genetic modifier and autosomal recessive cause of Brugada syndrome that may alter the circadian expression of SCN5A

High throughput analysis of disease repeat expansions and contractions by optical mapping

Homozygous PISD truncating variant in an adult patient presenting with chronic dysphagia, hoarseness, pectus carinatum, hearing loss, and hemiparesis

Genome and Exome Analysis for Detection of Coding and Non-Coding Sequencing and Copy Number Variants in Disorders of Sexual Development

Potential Management Strategies for Neurofibromatosis-Noonan Syndrome: A Case Series

Medical Students' Knowledge of, Experiences with, and Attitudes Towards Direct-to-Consumer Genetic Testing.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome

A case series of challenging molecular diagnoses identified by clinical whole genome sequencing

Novel Neurocognitive Profile in a Minority of Males with 47,XXY, Klinefelter Syndrome: Etiology Unknown

Heterotaxy in a Patient with Noonan Syndrome due to a RRAS2 Variant

Familial Williams-Beuren Syndrome Caused by an Atypical 7q11.2 Deletion

QT Prolongation: A Key Finding in Metabolic Hypoglycemia

The UAB Center for Precision Animal Modeling (C-PAM)

Metastatic Neuroblastoma at Young Age in Sotos Syndrome - Consideration of Routine Tumor Screening

Bi-allelic SPEG Variants Identified in an Infant Presenting with Severe Hypotonia, Failure to Thrive, and 5-oxoprolinuria

A Novel De Novo PGM3 Pathogenic Variant Identified in an Infant Presenting with Abnormal TREC Assay and Severe Neutropenia

Heterozygous variants in BDNF associated with a syndrome of developmental delay and obesity

Functional Validation of a Novel AAAS Variant in an Atypical Presentation of Allgrove Syndrome

Does motivation for ordering consumer-initiated genetic tests predict positive test results?

Simpson-Golabi-Behmel syndrome in a Female Patient: A Case Report and Review of the Literature

Expanding the Myopathic Spectrum of Dominant RYR1 Mutations: Two Case Reports

Challenges of Diagnosis and Management in Children with Late Onset Pompe Disease Diagnosed by Newborn Screen

Maternal Age and Malformations Due to Vascular Disruptions: A Review of the New York State Congenital Malformations Registry From 1990-2016

Targeting Clinically Significant Dark Regions of the Human Genome with High-Accuracy, Long-Read Sequencing

Dilated Cardiomyopathy as a Novel Finding in a Child with Alport Syndrome

Disease-Causing Variants in Hereditary Neuromuscular Disorder Genes in an Ethnically Diverse Pakistani Population - Experience from an Academic Medical Centre

Genome-Wide Mosaic Maternal Uniparental Disomy in A Female With Multiple Imprinting Disorders

In Silico Analysis of Similar Protein Sequences Between Sars-Cov-2 and BCG Vaccine

Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: a case report

Single Center Experience in the Application of Evidence Based Medicine to the Clinical Interpretation of Genomic Sequence Reports

Case Report: A novel deletion in the NLRP7 gene in the genetic etiology of recurrent hydatidiform mole pregnancy

The pheNIX Trial: First-in-Human Gene Therapy Trial for PKU Due to Phenylalanine Hydroxylase (PAH) Deficiency

A novel homozygous PGAP2 mutation causing hyperphosphatasia with mental retardation syndrome-3

Outcomes of In-House Rapid Genome Sequencing at a Children's Hospital

Assessment of Patient Utilization of Pharmacogenomic Consumer-Initiated Test Results 4 Weeks After Genetic Consultation

A PEX1 Terminal Deletion Retains Partial PEX1 Protein Function Resulting in an Attenuated Zellweger Spectrum Phenotype

A Distal 12p Duplication in an Adult with Dysmorphic Characteristics and Neurodevelopmental Impairments

Incongruous and Identical: Russell-Silver syndrome phenotype with Beckwith-Wiedemann genotype in monozygotic twins

HST5040: An Investigational Oral Small Molecule Therapy Entering Phase 2 Clinical Development for Methylmalonic (MMA) and Propionic (PA) Acidemias

Novel SOX10 Variant in a Girl with Waardenburg Syndrome Type 2E

Unfavorable 5-year Outcomes in the First Familial Amyloidosis Polyneuropathy Case Underwent Liver Transplantation in Thailand

Key Measurement Concepts and Appropriate Clinical Outcome Assessments in Pediatric Achondroplasia Clinical Trials

Homozygous LNPK Gene Mutation in Neurodevelopmental disorder: Case Report

A case with a 552 kb deletion syndrome at 16p11.2

The ongoing clinical testing of common MTHFR polymorphisms demonstrates the necessity of improved genetics-based continuing medical education among healthcare providers

The diagnostic utility of methylation episignature analysis in the diagnosis of Sotos syndrome

Biallelic GTF2IRD1 Mutations in Brothers With Profound Neurodevelopmental Disorder: A New Disorder Involving a Critical Gene for Williams Syndrome?

Rare co-occurrence of oculofaciocardiodental syndrome and autosomal dominant polycystic kidney disease type 1

Fetal Akinesia With SCN4A Lys674Pro Variant: Second Reported Case With Detailed Phenotype Review

Xp21 deletion syndrome in a female with intellectual disability

A low penetrance, late-truncating SALL1 variant is associated with a mild phenotype of Townes-Brock syndrome in heterozygotes

Hidden Cytogenetics Surprises in Exome Testing: A Lesson in Prioritize Testing in Limited Resources Settings

Atypical Presentation of Peroxisomal Disorder and Reclassification of Genetic Variants over Time

Resolving Complex Pathogenic Alleles using HiFi Long-Range Amplicon Data and a New Clustering Algorithm

SOX18 Pathogenic Variant: Expanding the Phenotypic Features of Hypotrichosis-Lymphedema-Telangiectasia Syndrome (HLTS)

A Novel Homozygous Variant in TBCD in Two Patients of Guatemalan Descent

ClinVar supports automated submission by API

Genetic modifiers of IL6 levels at baseline in COVID-19 infected patients

Predicting Genes from Phenotypes using Human Phenotype Ontology (HPO) terms

A Case Report of Topiramate for Severe Breath Holding Spells in a Teenage Boy with Pitt-Hopkins Syndrome

Microcephaly in an Afro-Caribbean Individual with an Apparent De Novo Variant in TUBG1

HMI-203: Gene Therapy Develpmental Candidate for Mucopolysaccharidosis Type II (MPS II), or Hunter Syndrome

A case of combined oxidative phosphorylation deficiency 5 with prenatal onset

Evaluating Patients Referred to a Medical Genetics Connective Tissue Disorder Clinic

CACNA1A-Related Disorder and Intrafamilial Variability: A Case Report

Septo-Optic Dysplasia in a Patient With CDK13-Related Disorder

Clinical and Biochemical Outcome With Parenteral Hydroxocobalamin Mega-Dosing in Cobalamin C Deficiency

Autosomal dominant mental retardation 22 (MRD22) in an adult with a de novo point mutation of ZBTB18 gene

Homozygous GDF1 mutation causing congenital heart defects in Ashkenazi Jewish families

Comparison of Cognitive Function in Siblings with Neuronopathic Mucopolysaccharidosis II: Evaluation of Early Treatment with Intravenous Idursulfase and Intrathecal Idursulfase-IT

Single Center Experience in Clinical Whole-Exome Sequencing

CASE REPORT: 10q26 DELETION SYNDROME

Further Expansion and Confirmation of Phenotype in Rare Loss of YWHAE Gene Distinct From Miller-Dieker Syndrome

Symmetrical Calvarium Thickening: An Atypical Presentation in a Child with Familial Adenomatous Polyposis Syndrome

Hyperinsulinism as an Unusual Presentation in Rubinstein-Taybi Syndrome

Intrathecal Idursulfase-IT Safety and Efficacy in Patients with Neuronopathic Mucopolysaccharidosis II: Phase 2/3 Extension Study 3-year Results

AVPR2-related Nephrogenic Syndrome of Inappropriate Antidiuresis in Four African American Brothers

Updated Results of Transpher B: Multicenter, Single-Dose, Phase 1/2 Clinical Trial of ABO-101 for Sanfilippo Syndrome Type B (Mucopolysaccharidosis IIIB)

Clinical whole exome sequencing in a patient with multiple rare diseases

SEQuencing a Baby for an Optimal Outcome: A Genomic Future for Newborn Screening

Mini-COMET: Effects of avalglucosidase alfa on ptosis in participants with infantile-onset Pompe disease previously treated with alglucosidase alfa

Genotype–Phenotype Findings in Patients with Mucopolysaccharidosis II (MPS II): Data from the Hunter Outcome Survey

Expanding the phenotype of HNRNPU-related disorders to include brief, resolved, unexplained events (BRUE)

A Turkish Consanguineous Family With a Novel Stop-gain Mutation in SPTBN2 Gene Leads to Spinocerebellar Ataxia 14

Duplication of 9p24.3 in three unrelated patients with autistic spectrum disorder

Gene therapy: Perceptions and attitudes among adults and parents of those with autism spectrum disorder

Genetic Skin Disorders: The Value of a Multidisciplinary Clinic

Clinical Utility of Genetic Testing in Kidney Transplantation

Updated Results of Transpher A: Multicenter, Single-Dose, Phase 1/2 Clinical Trial of ABO-102 for Sanfilippo Syndrome Type A (Mucopolysaccharidosis IIIA)

A comprehensive locus specific database of PHEX gene variants associated with X-linked hypophosphatemia vastly increases the number of known variants.

Prescription Claims among Persons with Ehlers-Danlos Syndromes for Drugs for Cardiovascular Autonomic Dysfunction

Prevalence and Carrier Frequency of GJB2 Variants in the Central-Southeast United States

22q11.2 Duplication Plus: Exome Sequencing Reveals Dual Diagnoses in Patients with 22q11.2 Duplication and Unexplained Phenotypic Features

Further Characterization of Fetal, Cardiac and Extra-cardiac Manifestations of TAB-2 related Disorder

Deletion of TBL1XR1: Neurodevelopmental disorder with characteristic facial features

Screening Neuroimaging and Polysomnography (PSG) in Children <5 Years of Age with Achondroplasia: A Single Multidisciplinary Clinic Experience

Health-related quality of life (HRQoL) in achondroplasia: findings from a multinational, observational study

Rare known pathogenic variants for urogenital disorders in 129 exomes patients with interstitial cystitis/bladder pain syndrome

ClinGen's Actionability Working Groups: Development and Early Implementation of an Assertion Rubric for Clinical Actionability

Siblings with biallelic TGFBR1 mutations and profound connective tissue disease:  recessive Loeys-Dietz syndrome

Rare Case of Brittle Cornea Syndrome in a Healthy 11-Year-Old: Implications for Medical Management to Prevent Blindness

De novo IGF2 Mutation in a Patient with Russel-Silver Syndrome and Ectrodactyly

Disease Interpretation of Non-Coding Genomic Elements With the GeneCards Suite

Diagnosis and Phenotypic Characterization of ROSAH Syndrome through Whole Exome Sequence and Segregation Analysis

The High Association of Ophthalmic Abnormalities in Patients with Mucolipidosis Type IV: Case Report and Literature Review

ClinGen Curation Tools, Web Services and Repository for Clinical Actionability Assertions and Supporting Evidence

Personalized clinical risk assessment of Mendelian variants using biobank datasets