Genetics in Medicine - 2022

869 articles | Last updated: 2025-12-03 14:12:56

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Masthead
Editorial Board
Table of Contents
Table of Contents
Masthead
Addendum: Preconception and prenatal testing of biologic fathers for carrier status; Carrier screening in individuals of Ashkenazi Jewish descent; Carrier screening for spinal muscular atrophy							✓		Ashkenazi Jewish descent
Addendum: Statement on informed consent for medical photographs
Editorial Board
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy
An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
Quantitative longitudinal natural history of 8 gangliosidoses—conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis
Editorial Board
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency
HTAADVar: Aggregation and fully automated clinical interpretation of genetic variants in heritable thoracic aortic aneurysm and dissection
De novo variants are a common cause of genetic hearing loss
Estimation of the number of people with Down syndrome in Australia and New Zealand
Masthead
Table of Contents
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay
A pragmatic clinical trial of cascade testing for familial hypercholesterolemia
Response to Grosse and Gudgeon
High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer
The natural history of fibrodysplasia ossificans progressiva: A prospective, global 36-month study
Genetic drivers of Cushing’s disease: Frequency and associated phenotypes
Correspondence on “Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions” by Lavelle et al
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease
Awareness and use of genetic testing: An analysis of the Health Information National Trends Survey 2020
Response to Ramos et al
Clinical implementation of genetic testing in adults for hereditary hematologic malignancy syndromes
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome
Desperately seeking solutions
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study
Segmental aneuploidies with 1 Mb resolution in human preimplantation blastocysts
Impact of integrating genomic data into the electronic health record on genetics care delivery
Using deep learning and electronic health records to detect Noonan syndrome in pediatric patients
Correspondence on “A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes” by Seaby et al
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
Polygenic risk scores and risk-stratified breast cancer screening: Familiarity and perspectives of health care professionals
Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4
Masthead
Table of Contents
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies
Editorial Board
Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Varia
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
An accessible, relational, inclusive, and actionable (ARIA) model of genetic counseling compared with usual care: Results of a randomized controlled trial
2022 Association of Professors of Human and Medical Genetics (APHMG) consensus–based update of the core competencies for undergraduate medical education in genetics and genomics
Considerations for policymakers for improving health care through telegenetics: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Heterozygous loss-of-function variants in LHX8 cause female infertility characterized by oocyte maturation arrest
Medical genetics education for pediatrics residents: A brief report
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Evaluating perinatal and neonatal outcomes among children with vascular Ehlers–Danlos syndrome
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2
A validation of models for prediction of pathogenic variants in mismatch repair genes
Genomic tools for health: Secondary findings as findings to be shared
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling
Discovering monogenic patients with a confirmed molecular diagnosis in millions of clinical notes with MonoMiner
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis
Safety and preliminary efficacy on cognitive performance and adaptive functionality of epigallocatechin gallate (EGCG) in children with Down syndrome. A randomized phase Ib clinical trial (PERSEUS stu
Factors associated with the time to complete clinical exome sequencing in a pediatric patient population
Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results
Use of eConsult to enhance genetics service delivery in primary care: A multimethod study
Preferences for a polygenic test to estimate cancer risk in a general Australian population
Table of Contents
eP384: Clinical, epidemiological and genetic characteristics of children diagnosed with Multisystem Inflammatory Syndrome (MIS-C) in Kuwait
Editorial Board
Masthead
Correspondence on “Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect” by Nizon et al
Estimating diagnostic noise in panel-based genomic analysis
Response to Kossmann Ferraz et al
Universal screening for familial hypercholesterolemia in 2 populations
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
CFTR genotype analysis of Asians in international registries highlights disparities in the diagnosis and treatment of Asian patients with cystic fibrosis
Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
Genetic counseling for prion disease: Updates and best practices
The predicted effect and cost-effectiveness of tailoring colonoscopic surveillance according to mismatch repair gene in patients with Lynch syndrome
Response to Mehta et al
Correspondence on “Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consorti
OP049: Automated isolation and genetic characterization of single circulating fetal trophoblasts in pregnant women
Masthead
Table of Contents
Editorial Board
Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
Neurofibromatosis type 1: A comparison of the 1997 NIH and the 2021 revised diagnostic criteria in 75 children and adolescents
A scoping review of interventions increasing screening and diagnosis of familial hypercholesterolemia
Development and evaluation of polygenic risk scores for prediction of endometrial cancer risk in European women					✓				European women
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Detection and characterization of male sex chromosome abnormalities in the UK Biobank study
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)
The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review
Pubertal growth in osteogenesis imperfecta caused by pathogenic variants in COL1A1/COL1A2
Challenges for precision public health communication in the era of genomic medicine
Frequency of truncating FLCN variants and Birt-Hogg-Dubé–associated phenotypes in a health care system population
The effect of rapid exome sequencing on downstream health care utilization for infants with suspected genetic disorders in an intensive care unit
Cancer Risk C (CR-C), a functional genomics test is a sensitive and rapid test for germline mismatch repair deficiency
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels
Editorial Board
Masthead
Table of Contents
“Doctors shouldn’t have to cheat the system”: Clinicians’ real-world experiences of the utility of genomic sequencing
Scoping review and classification of deep learning in medical genetics
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies
Long-term open-label phase I/II extension study of intrathecal idursulfase-IT in the treatment of neuronopathic mucopolysaccharidosis II
Pregnant Latinas’ views of adopting exome sequencing into newborn screening: A qualitative study
A nationally agreed cross-professional competency framework to facilitate genomic testing
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis
Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review
The current state of adult metabolic medicine in the United States: Results of a nationwide survey
Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study
A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals
The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources
Table of Contents
Editorial Board
Masthead
ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial
Making BRCA1 genetic test reports easier to understand through user-centered design: A randomized trial
De novo variants in the PABP domain of PABPC1 lead to developmental delay
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
High-affinity FcγRIIIa genetic variants and potent NK cell-mediated antibody-dependent cellular cytotoxicity (ADCC) responses contributing to severe COVID-19
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
Health equity in the implementation of genomics and precision medicine: A public health imperative
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results
Improving racial diversity in the genomics workforce: An examination of challenges and opportunities
Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases
Structured approaches to implementation of clinical genomics: A scoping review
The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice
TTR variants in patients with dilated cardiomyopathy: An investigation of the DCM Precision Medicine Study
Breast cancer risk stratification in women of screening age: Incremental effects of adding mammographic density, polygenic risk, and a gene panel
A clinical scoring system for early onset (neonatal) Marfan syndrome
Age of first cancer diagnosis and survival in Bloom syndrome
Real world outcomes and implementation pathways of exome sequencing in an adult genetic department
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions
Evaluating breast cancer predisposition genes in women of African ancestry							✓		women of African ancestry
Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach
Table of Contents
Perspectives of diverse Spanish- and English-speaking patients on the clinical use of polygenic risk scores
Editorial Board
Masthead
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen
The morbid genome of ciliopathies: an update
A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders
Interventions to improve delivery of cancer genetics services in the United States: A scoping review
The patient with 41 reports: Analysis of laboratory exome sequencing reporting of a “virtual patient”
Prevalence and prediction of medical distrust in a diverse medical genomic research sample
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome
Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome
Online interactive genetics education during internal medicine clinical clerkship
Integrating clinical genetics in cardiology: Current practices and recommendations for education
Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
A longitudinal perspective of hormone replacement therapies (HRTs) on neuromotor capabilities in males with 47,XXY (Klinefelter syndrome)
ClinGen’s Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents
A review of normative documents on preimplantation genetic testing: Recommendations for PGT-P
CLEC3B is a novel causative gene for macular-retinal dystrophy
eP140: A novel, double-blind placebo-controlled seamless phase 1/2/3 AAV9 gene therapy study for Wilson disease
eP187: Decentralization of clinical trials in the era of COVID-19: Implications for rare disease trials
eP083: Chromosomal microarray analysis as a supplement to exome sequencing in pediatric patients with suspected inborn errors of immunity
eP234: SERPINA1 sequencing facilitates detection of undiagnosed Alpha-1 antitrypsin deficiency
OP011: Physician recommendations after germline sequencing in pediatric cancer patients: Texas KidsCanSeq study
OP018: ASPIRO gene therapy trial in X-Linked Myotubular Myopathy (XLMTM): Update on preliminary efficacy and safety findings
eP009: Identification of a novel exonic deletion in the GALNS gene causing Morquio syndrome
eP015: COQ5 compound heterozygous variants in a family with global developmental delay, seizures, spastic paraparesis, and stroke
eP016: Biochemical diagnosis of pterin defect after negative broad genetic evaluation
eP024: Metabolomic mapping of rhizomelic chondrodysplasia punctata
eP025: Novel phenotype of aortic root dilatation and late onset of metabolic decompensation in patient with TMEM70 deficiency
eP034: Novel use of global untargeted metabolomics in a patient with glycogen storage disease Ib receiving off label empagliflozin treatment
eP038: A new biochemical assay to measure plasmalogens with CLIR disease differentiation
eP041: How long will they wait? Applying updated NCCN criteria to previously unqualified patients reveals missed opportunities for personalized cancer management
eP055: The Clinical Genome Resource (ClinGen) Somatic Cancer Clinical Domain Working Group
eP057: Precision oncology: Improvements in follow up and confirmation of potential germline variants identified from tumor next generation sequencing
eP066: Pitt-Hopkins syndrome, A high functioning family with milder phenotypes
eP087: Identification of an apparently de novo PKD1 variant in a patient with polycystic kidneys, renal angiomyolipoma, and lymphangioleiomyomatosis
eP092: Germline mosaicism in severe BICD2-associated lower extremity-predominant spinal muscular atrophy type 2 with arthrogryposis multiplex congenita
eP109: Clinical efficacy of next-generation sequencing panels for hearing loss diagnostics
eP120: Predicted frameshift variant in TSC2 associated with mild TSC phenotype and non-penetrance
eP122: The clinical significance of poisoned splicing variants in early-onset neurodevelopmental disorders
eP124: Uncovering rare obesity genetic testing program: Overview and health care provider utilization
eP127: Relationships between food-related behaviors, hyperphagia, obesity, and medication use in Smith-Magenis syndrome
eP136: An exploration of the impact of Hormonal Replacement Therapy (HRT) upon vocabulary skills in males with 49,XXXXY
eP151: Outcomes in growth hormone-treated Noonan syndrome children: Impact of PTPN11 variant status
eP154: Predictive genomic medicine for thoracic aortic aneurysm and dissection
eP157: Efficacy and safety of cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease: PROPEL study
eP158: The utility of transcriptomics to increase diagnostic yield in cases of rare genetic disease
eP161: Homozygous deletion of the terminal exon of DSG3 associated with acantholytic blistering of the oral and laryngeal mucosa
eP165: Improvement in left ventricular ejection fraction in patients treated with triheptanoin for Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
eP173: Re-examination of the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome in patients evaluated at the University of Miami
eP175: Recurrent SMAD4 gain-of-function pathogenic variants cause brain and spine abnormalities in 40 patients followed in the MGH Myhre Syndrome Clinic
eP176: Metabolomics reveals measurable perturbations in de novo ceramide biosynthesis in DEGS1 associated-hypomyelinating leukodystrophy - Towards a clinically significant biomarker profile
eP178: The infrequent and complicated case of differentiating between two similar yet rare syndromes in a young patient
eP181: Expanding the phenotype of LMNB1 duplication: Three generation family with microcephalic infant, asymptomatic individual, and eldest member without leukodystrophy
eP182: KBG syndrome: Prospective videoconferencing and use of AI-driven facial phenotyping
eP185: A novel, milder case of CHEDDA syndrome caused by a de novo variant outside of the canonical HX-motif of ATN1
eP207: NIH Down syndrome resources: DS-Connect Registry and INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project
eP208: GSD IX natural history and novel liver disease severity score: Multicenter international collaboration uncovers longitudinal trends in liver disease severity
eP223: Dominant-acting MAP3K20 variants cause split-foot malformation and sensorineural hearing loss
eP228: Multiple copy number losses in female with autism, developmental delay and focal epilepsy
eP240: Pursuit of a diagnosis for severe skeletal dysplasia: Case of a compound MYH3 VUS heterozygote after negative exome sequencing
eP246: Novel EFTUD2 variant adds to understanding of phenotypic spectrum of mandibulofacial dysostosis with microcephaly
eP248: Impact of DNA methylation signature exploration for variants of uncertain significance within epigenetic syndromes
eP254: Novel variant in AHDC1 leading to Xia-Gibbs syndrome: Expansion of the phenotype
eP265: Higher rates of non-skeletal complications in achondroplasia compared to the general population: A UK matched cohort study using CPRD-GOLD database
eP269: Reanalysis of commercial exome trio data reveals a de novo loss of function variant in KAT6A
eP272: Familial pathogenic variant causing osteogenesis imperfecta identified in the Puerto Rican population							✓		Puerto Rican population
eP278: New cases of FDXR-associate disorder in twin brothers and failed mitochondrial cocktail trial treatment
eP282: Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth
eP287: Return of individual genetic results in the largest recontactable cohort of individuals with autism
eP289: Non-cirrhotic portal hypertension: Expanding the phenotype of CBL syndrome-related vasculopathy
eP296: Familial MECP2 variants: a report of 4 affected families highlighting the variable phenotypic spectrum and implications for genetic counseling
eP302: Examining a hereditary cancer STAT panel and the importance of automatic reflex testing
eP318: Concurrent somatic 9p21 deletion and germline EP300 variant in a patient with T-ALL, immunodeficiency and malformations: Phenotypic expansion or comorbidities?
eP343: Long-read genome sequencing informs the molecular etiology of imprinting disorders
eP347: Rare variants and complex genomic structure of CYP2D6 necessitate careful assessment and interpretation of haplotype and copy number data
eP349: Describing the Impact of Genomic Variation on Function (IGVF) Consortium submitted on behalf of the IGVF Consortium members
eP369: Increased automation reduces turnaround time for submissions to ClinVar
eP373: Analytical validation of a computational method for pharmacogenetic genotyping from clinical exome sequencing
eP376: NGS detection of NUDT15 6-bp insertion and UGT1A1 (TA) repeat polymorphism on a preventative genomics assay
eP378: A 9-year, single-institution retrospective study of chromosomal microarray analysis data obtained from products of conception
eP383: Mayo Clinic GeneGuide: A population-scale genetic interpretation software for reporting pathogenic and likely pathogenic variants impacting the CDC Tier1 genes
eP392: A comprehensive genomic test reporting structure for communicating cancer and incidental findings
eP400: Utility of genome sequencing in CNV identification in an immune disorders cohort
eP406: Germline 16p13.1 microdeletion identified during routine hematologic testing
eP409: Clinical utility of a sponsored, no-charge skeletal dysplasia gene panel testing program: Results from >2600 tests
eP412: An evidence-based framework to evaluate Melanocortin-4 Receptor (MC4R) pathway relevance for obesity-associated genes
eP419: Genotype-phenotype correlation of distal 18q deletions less than 5 Mb
eP421: Development of an in-house whole transcriptome test for evaluation of splicing VUS variants: Experience and challenges in variant interpretation
eP429: Factors associated with the time to complete clinical exome sequencing in a pediatric patient population
eP432: Beyond newborn screening: Family planning implications and considerations for parents of a child with severe combined immunodeficiency
eP433: Nephrologists’ views on return of genetic results to research participants
eP437: Recruitment of Veterans Affairs patients improves the diversity of precision medicine research participation
eP448: Multiple pregnancies with fetal akinesia deformation sequence caused by variants in MUSK
eP449: Expansion of the prenatal phenotype of PIEZO1 variants
eP458: Prenatal genetic diagnosis of fetal ultrasound anomalies by exome sequencing: A Chinese multi-center prospective cohort							✓		Chinese
eP465: Role of next-generation sequencing in the evaluation of families with non-immune fetal hydrops
eP473: Patient attitudes and preferences about expanded noninvasive prenatal screening
eP482: The Biorepository and Integrative Genomics (BIG) Initiative: Addressing genomic health care disparities in underserved communities
eP484: Scaling a high throughput next generation sequencing laboratory for community surveillance of SARS-CoV-2 viral variants during the public health crisis
eP502: How will returning variants of uncertain significance impact healthcare use? A cross-sectional survey
eP506: Implementing diverse community engagement studios: The Family History and Cancer Risk Study (FOREST) at Vanderbilt and Meharry Medical College
eP510: High patient satisfaction with specialty pediatric services using telemedicine during the COVID-19 pandemic
eP516: Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways
eP517: Differences in genetic testing uptake in a large metropolitan pediatric outpatient genetics clinic over time
OP001: Quality of care metrics in patients with inborn errors of metabolism
OP002: Secondary data analysis: Opportunities to advance genetic disease understanding and newborn screening research
OP014: Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels
OP020: Demonstrating the value of genome sequencing in a pediatric neurology cohort: A successful partnership between a patient organization and industry
OP035: Rapid Whole Genome Sequencing (rWGS) in the cardiac NICU
OP039: Best practices for the interpretation and reporting of clinical genome sequencing
OP040: Clinical validation of tagmentation-based genome sequencing for germline disorders
OP052: Genetic etiology of prenatally detected isolated moderate to severe ventriculomegaly
eP065: Rare germline variants identified using genome sequencing in patients with hereditary cancer
eP310: Methods to disclose inherited cancer genetic test results in a population-based research study of Black women with invasive breast cancer
eP475: Long-term follow-up on fetuses diagnosed in second trimester with isolated single umbilical artery and normal chromosomal microarray
Masthead
Implementation of preemptive DNA sequence–based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study
eP001: Newborn screening experience for very long chain Acyl-CoA Dehydrogenase (VLCAD) deficiency in Kuwait
eP007: Delayed onset hyperammonemic encephalopathy in an adult with GLUD1 deficiency
eP011: Diagnosis of DNAJC12-deficient hyperphenylalaninemia offers targeted therapeutic options to counteract neurotransmitter deficiency
eP017: GNE gene variants associated with thrombocytopenia with or without GNE myopathy
eP032: Measurement of Nicotinamide Adenine Dinucleotide (NAD+) from dried blood spot cards
eP033: COASY-associated pontocerebellar hypoplasia – A possible additional secondary target detectable by expanded newborn screening?
eP043: Membrane Metalloendopeptidase (MME) positively regulates Phosphoinositide 3-Kinase (PI3K) signaling in triple negative breast cancer
eP047: Germline cancer predisposition variants in a cohort of early-onset Merkel cell carcinoma patients
eP049: Discordant fluorescence in situ hybridization and RNASeq results in the identification of fusion partners in recurring translocations in hematological malignancies
eP053: Detection of rare and novel fusions in pediatric B-Lymphoblastic Leukemia (B-ALL) by capture-based transcriptome sequencing (RNA-Seq)
eP056: Myelodysplastic syndrome/myeloproliferative neoplasm with highly complex intrachromosomal rearrangements resulting from multiple 5q15q32 deletions, 5’PDGFRβ deletion, pericentric inversion and
eP060: Characterizing the complex chromosomal rearrangements in a Philadelphia negative BCR/ABL1 positive case
eP062: Clinically significant goiters as the initial presentation of PTEN hamartoma tumor syndrome
eP063: Genetic variants associated with childhood cancers: Curation initiatives of the ClinGen Somatic Cancer Pediatric Taskforce
eP064: Consumer-initiated genetic testing identifies individuals predisposed to multiple hereditary cancer syndromes
eP068: Homozygous SMN1 single nucleotide variant in a patient with SMA type 0
eP075: The evolution of a diagnostic odyssey
eP080: A rare case of mosaic trisomy 15 with chylothorax
eP093: De novo interstitial deletion of chromosome 7p22.1p21.2: A case report
eP106: BRSK2-related neurodevelopmental disorder: Novel pathogenic variant and review of literature
eP133: Genome sequencing and chromosomal microarray as a tool for evaluating phenotypic variability in individuals with X and Y chromosome variations
eP134: Functional characterization of Variants of Uncertain Significance (VUSs) identified in patients with early-life epilepsy in Hong Kong
eP138: An informatics star allele calling workflow for direct typing of CYP2D6 from fully phased variants using PacBio HiFi reads
eP143: Newborn screening for X-linked adrenoleukodystrophy: Identification of isodisomy of X in an affected female infant
eP145: Severe Pierre Robin sequence and hydrocephalus in infant with TUBB3 variant
eP146: Application of exome sequencing in patients of congenital anomalies with or without intellectual disability
eP162: Mosaic variant in ENG in infant with pulmonary arteriovenous malformations: Case report and review of hereditary hemorrhagic telangiectasia
eP167: The impact of glycogen storage disease type III on children and adults: Results from an online survey
eP169: A case report of Ververi-Brady syndrome: Expanding the genotype and phenotype
eP171: Family of three with truncating pathogenic variant in NFIA leading to central nervous system and urinary tract defects
eP179: Expanding the phenotype of CLCN6-associated early-onset neurodegeneration
eP186: Novel SNRPE-related spliceosomopathy characterized by microcephaly and congenital atrichia
eP191: Isodicentric(Y)(p11.2) mosaicism in newborn with 46,XX cells
eP205: Pharmacogenetic profiling via genome sequencing in children with medical complexity
eP206: Novel variant in ARSA associated with late infantile metachromatic leukodystrophy and heterozygote rate in individuals of Ashkenazi Jewish ancestry							✓		Ashkenazi Jewish ancestry
eP213: Phase 2 multiple ascending-dose study of SRP-5051 PPMO in patients with DMD amenable to exon 51 skipping: Part A results
eP214: Prevalence of cardiac manifestations in patients with hypermobile Ehlers-Danlos syndrome at the University of Miami
eP222: Gene variant and neuromuscular findings from a long-chain fatty acid oxidation disorder gene panel program
eP225: Novel compound variants in IGHMBP2 associated with CMT
eP227: Placental accelerated aging in antenatal depression
eP245: INCEPTUS multinational, prospective, natural history, run-in study of males with X-linked myotubular myopathy
eP256: Intrafamilial variability in chromosome 2q13 microdeletion: Case report and review of the literature
eP258: Pre-analytical considerations are important in the pharmacological assessment of enzyme therapeutics
eP268: DVL2 – A newly identified genetic cause of Robinow syndrome?
eP276: Development of an overdue outreach program to improve adherence to phenylketonuria management
eP279: More renal genetics specialists are needed: Experience from a tertiary medical center
eP285: Hidden threats: Identifying genetic risks for cardiomyopathy complications in healthy pregnant women
eP290: A mosaic Angelman syndrome case with language apraxia and symptoms overlapping Prader-Willi syndrome
eP312: Exon level array utility in follow up to identification of copy number variants on expanded carrier screening
eP317: Comparative benchmarking of optical genome mapping and chromosomal microarray reveals high technological concordance in CNV identification and structural variant refinement
eP320: AI-based method to estimate the probability of a variant being an artifact
eP323: Case-control study to identify key residues and domains within hereditary renal disease gene panel to aid in VUS reclassification
eP324: Biallelic variants in DLL1 as a novel cause of severe spondylocostal dysostosis
eP344: Making the grade: How carrier screening panels score against the American College of Medical Genetics and Genomics “Tier 3” recommendations
eP361: Democratizing carrier screening: A 34-gene panel of routine and challenging targets resolved using a single workflow
eP367: How a GUS can fly: Triaging genes of uncertain significance in a clinical laboratory setting
eP381: Diverse presentation of PARK2 gene variant patients: Array CGH study of nine cases with PARK2 disruption
eP382: Providing more answers for patients with supplemental RNA analysis
eP384: Clinical, epidemiological and genetic characteristics of children diagnosed with Multisystem Inflammatory Syndrome (MIS-C) in Kuwait
eP388: Optical genome mapping capability expanded to enable detection of absence of heterozygosity
eP390: Leveraging unique chromosomal microarray probes to resolve complex copy number variation at the highly homologous deafness-infertility syndrome locus at 15q15.3
eP395: Calculating recurrence risk in an individual with an intrachromosomal structural rearrangement
eP404: Evidence supporting the pathogenicity of the NADSYN1 c.1717G>A (p.Ala573Thr) variant in individuals referred for clinical testing
eP416: Assessment of the clinical implication of additional cytogenetic abnormalities in acute lymphoblastic leukemia with t(4;11)(q21;q23)
eP420: Clinical utility of a 38-gene NGS panel in diagnosing patients with hemolytic anemia: A retrospective review of 435 cases
eP428: Gender and sex discordance in genetic testing: Mayo Clinic Genomics Laboratory experience
eP434: Celebrating and commemorating the 2022 bicentennial of Mendel’s birth, the exhumation of Mendel's body for archeologic, anthropologic, and genomic research
eP435: Issues in interpreting results in research genomic testing for common disorders: an example within an OCD cohort
eP438: Ethical issues related to gene therapy with onasemnogene abeparvovec for spinal muscular atrophy type 1 in a developing country
eP441: Evaluation of growth in perceived clinical genetics competency among primary care providers participating in genomic population health screening
eP444: Cases of isodicentric and isochromosome-related false negatives on SNP-based cell free DNA aneuploidy screening
eP453: Diagnosis of Hereditary Hemorrhagic Telangiectasia (HHT) in the postpartum period: A case report
eP455: Fetal ultrasound presentation and neonatal diagnosis of Freeman-Sheldon syndrome in son of previously undiagnosed adult male
eP466: The use of next generation prenatal screening in a low resource setting among Non-Hispanic Black and Hispanic patients							✓		Non-Hispanic Black and Hispanic patients
eP478: Identifying the current status and future needs of clinical, educational, and laboratory genetics services in Pakistan: A web-based panel discussion
eP480: Project ECHO for pediatric genetics in Mississippi: Expanding access to the clinical genetics workup for autism and intellectual disability
eP492: The ScreenPlus model for collective funding of pilot newborn screening
eP494: Integration of genomics into primary care via the Alabama Genomic Health Initiative
eP495: Introduction to Odyssey: Real-world rare disease data collection program for patients with long-chain fatty acid oxidation disorders in the US
eP498: Detection of congenital cytomegalovirus infection on high-risk newborn population
eP508: Integration of personalized medicine into primary care clinics: A path to make large scale population genomics studies successful
eP511: Improved insurance coverage of exome sequencing in an outpatient medical genetics clinic increases in diagnoses and positively impacts clinical management
eP513: “Doctors shouldn’t have to cheat the system”: Clinicians’ real-world experiences of the utility of genomic sequencing
OP006: Is it time to move beyond acylcarnitine profiles? Lessons from the clinical application of a high-definition LC-MS/MS acylcarnitine method.
OP025: Integration of genome sequencing in the inpatient setting: A mixed methods study exploring collaboration models between genetics and bedside teams
OP026: Genetic counseling for personal health risk in individuals heterozygous for hypophosphatasia variants identified through expanded carrier screening
OP028: At the intersection of technology and genetics: A pilot study exploring virtual assistant use with non-invasive prenatal screening result disclosure
OP036: Application of RNA sequencing evidence improves equity in variant interpretation
OP037: Assessing the impact of expanded ACMG secondary findings recommendations on population genomic screening in the Geisinger MyCode Community Health Initiative
OP051: Genetic characteristics and prenatal phenotyping of RASopathy spectrum diagnosed by exome sequencing for nonimmune hydrops fetalis
OP055: Comparing error rates in disclosure of genome sequencing results between non-genetics providers and genetic counselors
OP060: Rare diseases, common barriers: Disparities in clinical genetics outcomes
eP002: Pilot study of insulin-like growth factor 1 on differing metabolic responders with Phelan-McDermid syndrome: Preliminary results
eP003: Novel use of IL-1 inhibition via canakinumab in two patients with lysinuric protein intolerance and immune dysregulation
eP004: Screening for metabolic abnormalities in a cohort of patients with hypermobility
eP006: Homocystinuria in an adolescent patient with Chr21q22.2q22.3 deletion
eP010: Conservative management with serial biochemical monitoring for newborn screen detected Maple Syrup Urine Disease (MSUD) patients without metabolic decompensation
eP019: Case presentation: Dual diagnosis of LCHAD deficiency and type 1 diabetes mellitus and complexities of management
eP021: Case report of a Mexican family with alpha mannosidosis and a novel probably pathogenic variant in the MAN2B1 gene
eP028: Neurological manifestations in PMM2 related congenital disorders of glycosylation (CDG): Insights into clinico-radiological characteristics and recommendations for follow-up
eP031: Clinical and biochemical characterization of carnitine palmitoyltransferase-2 deficiency and novel case exacerbated by heterozygosity with partial carnitine transporter deficiency
eP036: Not your typical newborn screen for X-ALD: Outcomes from Washington State
eP039: Does Lynch syndrome cause predisposition to breast cancer? Experience from a hereditary breast cancer clinic in Pakistan
eP082: Associated recessive retinitis pigmentosa caused by paternal uniparental disomy
eP085: Phenotype of two old order Amish patients with NOD2 increased risk alleles							✓		old order Amish
eP086: Hypophosphatemia gene panel sponsored program: A high yield of molecular diagnoses from clinically confirmed XLH and suspected genetic hypophosphatemia
eP091: Improving cytogenetic testing utilization in a tertiary care NICU through quality improvement
eP095: A family-based study of hereditary spastic paraplegia type 46 in two siblings due to a novel GBA2 variant
eP097: The utility of CSF-derived cell free DNA in molecular diagnostics for the Megalencephaly-capillary Malformation (MCAP) syndrome: A case report
eP113: Prevalence and clinical consequences of genetic variants associated with familial hypercholesterolemia and LDL-C lowering in a diverse patient population
eP126: Frequency of MC4R pathway variants in a large US cohort of pediatric and adult patients with severe obesity
eP129: Prevention of atypical hemolytic uremic syndrome with eculizumab in cardiopulmonary bypass: The importance of genomics in congenital heart disease
eP130: Infantile hypertrophic cardiomyopathy due to HRAS related Costello syndrome responsive to trametinib: Outcomes after 2 years
eP132: Congenital diaphragmatic hernia as a feature of Coffin Siris syndrome type 2
eP152: A case of atypical Crouzon syndrome with congenital diaphragmatic hernia
eP153: WASF2 variants contribute to heart failure phenotypes
eP166: Vestronidase alfa for the treatment of Mucopolysaccharidosis VII (MPS VII): Updated results from a novel, longitudinal, multicenter disease monitoring program
eP168: A de novo variant in AMOTL1 gene in an adult with craniofacial abnormalities and previously unreported congenital diaphragmatic hernia
eP180: Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases
eP198: EIF3F compound heterozygous genotype-phenotype association
eP215: MED12-related Hardikar syndrome- Two additional cases and novel phenotypic features including cholangiocarcinoma
eP219: Genome Sequencing (GS) as a first test in the clinic
eP226: Dual diagnoses in neurogenetics- A case series of pediatric movement disorders and clinical management
eP235: Interim results of the Vigilan observational study: clinical characteristics of creatine transporter deficiency
eP238: Inner epicanthal and nasal pits as presenting feature of holoprosencephaly
eP239: Diagnostic performance of automated streamlined, daily updated, exome analysis in patients with delayed development
eP249: Practical implementation of inpatient rapid comprehensive sequencing for critically ill pediatric patients
eP257: A homozygous nonsense variant in DNAJC30 causes Leigh-like phenotypes
eP303: A tale of two tests: A PGT-M and expanded carrier screening clinical experience study
eP307: The impact of proband indication for genetic testing on the uptake of cascade testing among relatives
eP333: Tracking the emergence of SARS-CoV-2 variants of concern in vaccinated and unvaccinated patients
eP340: Clinical and genetic features of a large cohort of individuals with autoinflammatory disease
eP342: Clinical testing of SHOX gene for SHOX deficiency disorders
eP350: QuaC: Implementing quality control best practices for genome sequencing and exome sequencing data
eP351: Next-generation sequencing panels for cystic kidney disease with improvements for sequencing and alignment challenges
eP355: Repeat expansion disorders screening by genome sequencing: Strategy and stumbling blocks
eP362: Mosaic RAS family in-frame insertion variants in patients with hemangiomas and vascular malformations
eP363: A review of characteristic features identifying balanced chromosomal translocations with increased potential for 3:1 meiotic segregation
eP364: Lessons from pathogenicity classifications for 251 RYR1 variants associated with malignant hyperthermia susceptibility using variant curation expert panel revised criteria
eP370: SouthSeq: Genome sequencing for a diverse population of hospitalized infants
eP371: A diverse set of case presentation highlight the power of genome sequencing – What next?
eP374: Variant classification changes over time at a clinical molecular diagnostic laboratory
eP387: Genetic testing for spinocerebellar ataxias in pediatric patients
eP397: Inadvertent allogeneic hematopoietic stem cell transplant from a lung allograft
eP398: Searching beyond the exons in nuclear genes: Diagnostic deep intronic and mitochondrial variants in patients with monogenic diabetes
eP401: Comprehensive evaluation of genetic etiology underlying non-immune hydrops fetalis
eP407: Aberrant KCNQ1 splicing as an emerging mechanism underlying the pathogenesis of familial Beckwith-Wiedemann syndrome with reduced penetrance
eP411: Tackling the COVID-19 pandemic by utilizing next generation sequencing technologies
eP417: Exome sequencing unravels dual diagnoses and complex molecular etiologies in a family with prior negative diagnostic testing
eP425: Parental impact of genome sequencing during the neonatal period
eP427: Disseminating genetics policy information on social media
eP440: Developing medical genetics interest and literacy through student interest groups: The why, the how, and the challenges
eP446: High rates of ‘atypical’ panorama noninvasive prenatal screening results among consanguineous Arab American women							✓		Arab American
eP447: Family history helps solve the case: Prenatal case report of Lowe syndrome
eP450: Effectiveness and utility of noninvasive prenatal screening (NIPS) for sex chromosome aneuploidies
eP454: Fetal exome sequencing for recurrent arthrogryposis identifies a potentially causative variant in the TOR1A gene: A case report
eP457: Fetal presentation of pyruvate dehydrogenase complex deficiency diagnosed by prenatal exome sequencing
eP468: Carrier frequency of genes associated with autosomal recessive conditions in diverse populations: Lessons learned from gnomAD and ClinVar
eP469: Improved Vanadis NIPT platform for detection of T13 T18 and T21 and sex chromosome abnormalities
eP474: Prenatal exome sequencing analysis in the clinical setting of fetuses with structural anomalies or increased nuchal translucency
eP485: Ancestry inference from targeted NGS tests to enable precision medicine and improve racial/ethnic representation in clinical trials							✓		ancestry; racial/ethnic
eP491: COVID-19 and clinical genomics: A Detroit community hospital’s telehealth experience
eP497: Interpreting for genetics: Crossing the language barrier in communities
eP499: Performance measures for evaluating access to genetic services: Work of the National Coordinating Center for the seven Regional Genetics Networks
eP500: Genome-wide Sequencing Ontario (GSO): An implementation pilot to improve rare disease diagnostics
eP504: A novel visualization of state-by-state variability in newborn screening highlights underrepresentation of lysosomal storage disorders
eP518: Development and validation of the Vanderbilt PRS-KS, an instrument to quantify polygenic risk score knowledge
OP012: Perceptions of breast and ovarian cancer risk and genetic testing among Non-Hispanic Black women							✓		Non-Hispanic Black
OP016: Mini-COMET: Safety and efficacy of ≥97 weeks’ avalglucosidase alfa in infantile-onset Pompe disease participants previously treated with alglucosidase alfa
OP017: Triheptanoin for the treatment of Long-Chain Fatty Acid Disorders (LC-FAOD): Final results of an open-label, long-term extension study
OP030: Parenting stress raising children with sex chromosome aneuploidies: First year of life results from the eXtraordinarY Babies study
OP044: A survey of program directors for combined pediatrics-medical genetics and genomics residency programs: Perspectives when evaluating applicants
OP049: Automated isolation and genetic characterization of single circulating fetal trophoblasts in pregnant women
OP015: Multi-omic analysis of circulating tumour DNA for the early detection of cancer in patients with Li-Fraumeni syndrome
OP032: Communication practices of parents and unaffected sibling needs in families impacted by a diagnosis of Angelman syndrome
OP041: Implementation of 2019 ACMG technical standards for the interpretation and reporting of constitutional CNVs: Experiences from an academic reference laboratory
eP005: Complex glycerol kinase deficiency and X-linked intellectual disability
eP008: Cystathionine beta synthase deficiency patients are being missed by newborn screening
eP012: Biochemical characterization of single minded-1 missense variants associated with severe obesity
eP013: Novel biomarkers of succinic semialdehyde dehydrogenase deficiency highlight opportunities for screening and detection of GABA catabolism pathway abnormalities
eP014: Establishment of a clinically validated in vitro functional assay to score pathogenicity of novel GAA variants in Pompe patients
eP018: Late-onset congenital erythropoietic porphyria associated with myeloid malignancy
eP020: Expanding the clinical spectrum of asparagine synthetase deficiency
eP022: Action myoclonus-renal failure syndrome: An atypical storage disorder with a treatment dilemma
eP026: Newborn screening for Pompe disease: The Indiana experience
eP027: Screening for co-incident TANGO2 related metabolic encephalopathy and arrhythmia syndrome in 22q11 deletion syndrome
eP029: Response of an infant with presumed type II multiple Acyl-CoA dehydrogenase deficiency to ketone supplementation
eP030: Effect of peanut butter consumption on C26 concentrations in breastmilk -- Implications for X-ALD newborn screening
eP035: Genotype-phenotype correlation of glycogen storage disease type IV
eP037: Biochem for the Win! The added value of biochemical genetic testing for diagnosis and variant interpretation in the genomic era
eP040: Breast cancer patients categorized as high-risk of recurrence and/or basal-type molecular subtype by Agendia should universally undergo germline genetic testing
eP042: Highly sensitive blocker displacement amplification-based qPCR approach in detecting low level JAK2 variant
eP045: Papillary renal cell carcinoma, glioma and colon polyps in a patient with novel POT1 variant
eP048: Identifying cancer predisposition in a series of 1,521 pediatric oncology patients by tumor-only panel-based testing
eP050: Cytogenomic profiling and clinical correlation of 21q22 amplification in acute myeloid leukemia reveal distinct cytogenomic features and poor outcomes
eP052: Coding defects in chromosomal segregation and protein targeting are central to TGCT predisposition
eP054: Real-world clinical characteristics and management of breast cancer in patients with germline pathogenic variants in ATM, CHEK2 and PALB2
eP058: Determining indications for genetic testing among breast cancer patients with inherited cancer pathogenic/likely pathogenic variants
eP059: Breast cancer characteristics among women with hereditary breast cancer
eP061: Genetic risk for breast and ovarian cancer in a diverse and unselected population
eP067: Diagnostic yield of genome sequencing versus targeted gene panel testing in diverse pediatric patients in the NYCKidSeq study
eP069: Possible founder variant and spectrum of phenotypic manifestation of Fukuyama muscular dystrophy reported in four unrelated Pakistani families
eP071: 45,X/46,XY mosaicism: Retrospective study of 100 patients
eP072: Disparities of racial and ethnic minorities in population genetic screening: Evidence and promising strategies
eP073: Interstitial deletion of 3q21 in a child with multiple congenital anomalies; Expanding the phenotype
eP074: Atypical presentation of a patient with Sotos syndrome with later onset overgrowth, mandibular hypoplasia, and cleft palate
eP076: Pancreatic lipase deficiency cohort in the plain population
eP077: Atypical polycystic kidney disease in individuals heterozygous for rare ALG8 protein-truncating variants
eP078: Phenotypes and genotypes in a cohort of children with single ventricle congenital heart disease
eP079: Cerebellar atrophy, developmental delay and a VUS in the THG1L gene: A case report
eP081: Dandy Walker malformation in three unrelated families with biallelic variants in CAPN15 expands the phenotypic spectrum of oculogastrointestinal neurodevelopmental disorder
eP088: Diagnosing a patient with progressive myoclonic epilepsy-12 with variants of uncertain significance on exome sequencing
eP089: 47, XXY: Mathematic capabilities and the impact of Hormonal Replacement Treatment (HRT)
eP090: Precision medicine modelling for undiagnosed and rare disease
eP094: Diagnostic yield of chromosomal microarray in congenital heart disease: A single center retrospective study
eP096: Novel pathogenic variants causing TBCK syndrome in three patients from Indian origin							✓		Indian origin
eP098: Exome sequencing of >500 individuals with brain malformation phenotypes reveals marked genetic heterogeneity
eP099: Wiedemann-Rautenstrauch syndrome- New pathways for an old disease
eP101: The diagnostic odyssey towards detection of mosaic distal 5p tetrasomy through buccal swab DNA analysis
eP103: Speech development gene pathways: Would genome sequencing in nonverbal individuals provide a link?
eP104: Two patients with autism secondary to ZBTB18 loss-of-function pathogenic variants
eP107: Accurate genotyping of UGT1A1 dinucleotide repeat polymorphism from targeted NGS data for the assessment of irinotecan chemotherapy adverse events
eP108: PPP1CB-related Noonan syndrome with loose anagen hair presenting with focal cortical dysplasia and epilepsy
eP111: Microduplication 5q11.2q21.1 presenting with congenital scoliosis
eP112: Septo-optic dysplasia associated with unbalanced chromosome translocation resulting in trisomy 11q13 and monosomy 12q24.3
eP114: De novo prenatal diagnosis of X-linked Acromegaly Gigantism (X-LAG)
eP115: Two novel NPR2 variants in a patient with acromesomelic dysplasia - Maroteaux type
eP116: Yield of exome sequencing in patients with abnormal head size
eP117: Natural history study of an international TANGO2 deficiency cohort
eP118: Connective tissue disorders not otherwise specified: Defining the problem
eP119: The landscape of peripheral neuropathy genetics: When common causes are not actually the cause
eP121: Integrating de novo and inherited variants in over 42,607 autism cases identifies variants in new moderate risk genes
eP123: Design of a phase 2, double-blind, placebo-controlled trial of setmelanotide in patients with genetic variants in the melanocortin-4 receptor pathway
eP125: Variants in obesity-related genes in a population with early-onset obesity
eP128: A novel CSNK1E variant in a patient with autism spectrum disorder
eP131: High prevalence of bony abnormalities in patients with Rubinstein-Taybi syndrome: A case series
eP137: Defining the disease entity for inherited retinal disorders – Lump or split?
eP139: Spatial transcriptomic approaches for characterizing childhood intellectual disability
eP141: Expansion of long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders and multiple congenital anomalies
eP142: Treatment resistant malignant catatonia in a patient with VAMP2-related disorder
eP144: Long-read genome sequencing secondary processing pipelines provide variant call accuracy that exceeds current clinical standards for short-read genome sequencing
eP148: Long-term safety and efficacy of pegunigalsidase alfa: A multicenter extension study in adult patients with Fabry disease
eP149: Safety and efficacy of pegunigalsidase alfa, every 4 weeks, in Fabry disease: Results from the phase 3, open-label, BRIGHT study
eP150: Mosaic 2q37 deletion detected in a neonate with IUGR and brain malformations
eP155: Genetic investigation of idiopathic short stature in the endocrinology practice: The Mayo Clinic experience
eP156: Pilot study of functional near-infrared spectroscopy of cortical brain function during an auditory and visual N-back task in Klinefelter syndrome
eP159: A TOPBP1 variant associated With BAFopathy methylation pattern
eP160: Bilateral oophorectomy and the risk of breast cancer in women with a pathogenic variant in BRCA1: A reappraisal
eP163: Germline mosaicism in two sisters with Malan syndrome
eP164: A case report of neurological manifestations and failure to thrive in neurobehavioural disease caused by a variant in RFX7
eP170: When cfDNA screening deceives: A rare case of mosaicism for 46,XX/47,XXY with uniparental isodisomy and genital atypia
eP172: A new and milder case of primary autosomal recessive microcephaly type 16
eP174: A novel variant of CXCR4 gene in a case of WHIM syndrome
eP183: Functional assessment of a novel POU4F3 missense variant
eP184: Novel KCNA1 pathogenic variant associated syndrome of episodic dystonia and electrophysiologic myokymia - A case report
eP188: Novel HECW2 variant presenting with tachypnea and multisystemic congenital malformations
eP189: Insights into the phenotype of KDM1A-related neurodevelopmental disorder: A new chromatinopathy
eP190: A third patient with RAP1B-related syndromic thrombocytopenia and novel clinical findings
eP192: Differences of Sex Development (DSD) in Central Africa: Genetics, psychosocial adaptation and perceptions
eP193: Co-occurring TCF12 and mosaic NALCN likely pathogenic variants: Case report of novel skeletal findings without craniosynostosis, neurologic dysfunction, and apnea
eP194: Three generations of females with a heterozygous likely pathogenic variant in SLC6A8 causative of X-linked creatine transporter defect
eP195: Safety and efficacy of Copper Histidinate (CUTX-101) treatment for Menkes disease caused by severe loss-of-function variants in ATP7A
eP196: Phenotypic and genotypic heterogeneity related to gene defects in TBL1XR1
eP197: Further delineation of KIF21B-related neurodevelopmental disorders
eP200: Noonan syndrome associated with focal occipital alopecia in a patient with RAF1 variant: A case report and literature review
eP201: A phase 2 clinical trial evaluating the safety and efficacy of delandistrogene moxeparvovec for treating patients with Duchenne muscular dystrophy
eP202: A new pathologic KMT2B variant associated with childhood onset dystonia presenting as variable phenotypes among family members
eP203: Genotype/phenotype correlations in Joubert syndrome
eP204: Expert opinions regarding impact of achondroplasia on health-related quality of life and long-term effects of vosoritide: A modified Delphi study
eP209: Considering genetic disorders in premature individuals: YY1-related disorder in child born at 27 weeks gestation
eP210: A rare case of familial syndromic intellectual disability: First reported Portuguese patients
eP211: Incidental cutaneous tumor regression in an adult with NF1 on MEKinist monotherapy
eP212: Safety, β-Sarcoglycan expression, and functional outcomes from systemic gene transfer of rAAVrh74.MHCK7.hSGCB in LGMD2E/R4
eP216: An unexpected diagnosis of RIDDLE syndrome and possible TUBGCP6-related disorder amidst controversial parental consanguinity
eP217: Ophthalmology genetics clinic in the times of COVID-19: A hybrid model
eP218: A novel FGFR2 variant in a family with a spectrum of anterior segment anomalies
eP220: Expanding the phenotypic spectrum of COLEC10-related 3MC syndrome: A glimpse into COLEC10-related 3MC syndrome in the Ashkenazi Jewish population							✓		Ashkenazi Jewish population
eP221: Increased expression of ZFPM2 bypasses SRY to drive 46,XX testicular development: A new mechanism of 46,XX DSD
eP224: SMAD4-related juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome presenting as metastatic adenocarcinoma of the colon in a teenager – A case report
eP229: A case report of a complex chromosome 8 rearrangement with partial monosomy of 8p and partial trisomy of 8q
eP230: The effects of early androgen therapy on behavior in boys with 47,XXY under 6 years old
eP231: Ophthalmic findings associated with NEDD4L-related disorder: Novel finding in a patient and review of literature
eP233: Development and optimization of a clinical support algorithm for rapid identification of diagnostic germline variants
eP236: TeleKidSeq: Incorporating telehealth into clinical care of children from diverse backgrounds undergoing clinical genome sequencing
eP237: Clinical correlates, diagnosis, and management of sleep-disordered breathing in young children with Down syndrome
eP241: Incidental finding of autosomal recessive juvenile Parkinson disease-2 in chromosome 17q12 microduplication female infant
eP242: Analytical validation of a PCR/CE assay that phases SNPs with CAG-expanded alleles for selecting Huntington disease patients for allele-selective treatments
eP243: A novel variant in MORC2 associated with pigmentary retinopathy, short stature, microcephaly and white matter abnormalities
eP244: Rapid exome sequencing influences acute and long-term management of critically unwell children and their families
eP247: Pathogenic variant in valosin-containing protein causing inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia
eP250: Molecular findings in patients with atypical Sturge-Weber syndrome
eP251: Vascular anomalies in patients with Maffucci syndrome
eP252: A multidisciplinary endocrine-genetic obesity clinic for children: Diagnostic utility and insights
eP253: Incidence of miscarriages and recurrent miscarriages in women with children with 47,XXY, 48,XXXY, or 49,XXXXY
eP255: Proposition of a novel RASopathy mediated by variants in ARF1
eP259: A phase 1/2 trial of AXO-AAV-GM1 gene therapy for the treatment of infantile- and juvenile-onset GM1 gangliosidosis
eP260: Expanding cohort of individuals with p.V142I homozygous alterations suggests presentation onset similar to heterozygotes
eP261: The spectrum of CFTR and PRSS1 pathogenic variants in chronic pancreatitis
eP262: De novo heterozygous variant in the RAB11B gene presenting with combined cardiac defect and neurodevelopmental disorder: A case report
eP263: A pathogenic deletion at 13q32.1q33.1 presenting with bilateral sensorineural hearing loss and pigmentation anomalies, mimicking Waardenburg syndrome
eP264: Genotype-phenotype correlation analysis and therapeutic development using a patient stem cell-derived disease model of Wolfram syndrome
eP266: Associations between height and Health-Related Quality of Life (HRQoL) and functional independence in children with achondroplasia
eP267: De novo COL11A1 and COL9A2 variants corresponding to Stickler syndrome phenotype
eP270: Incorporating genetic services into adult kidney disease care
eP271: Bi-allelic loss of function variant of the ACTG2 gene that proposes a potential novel mechanism for visceral myopathies
eP273: The critical role of NDF2 domain in FMR1 supported by a novel variant in two brothers with intellectual disability
eP274: Frequency of Bardet-Biedl syndrome and Alström syndrome gene variants in a cohort with early-onset obesity
eP275: Quality of life in patients with Bardet-Biedl syndrome in a setmelanotide phase 3 trial
eP277: Exploring the landscape of genetics patents in the United States from 2005 to 2020
eP280: Continued improvement in adults with acid sphingomyelinase deficiency after 2 years of olipudase alfa in the ASCEND placebo-controlled trial
eP281: SeqFirst-neo: Improving access equity for a precise genetic diagnosis in the NICU
eP284: Should Ehlers-Danlos syndrome be considered a spectrum? A case report in supporting of the evidence
eP286: Genome-to-treatment: A system to guide the acute management of genetic disorders in children
eP288: Genomic characterization of a TP53 tandem duplication in a pediatric patient with Li-Fraumeni syndrome
eP291: Disease characterization in sodium-potassium ATPases by reverse genetics in humans
eP293: Patient satisfaction with telehealth genetic counseling across multiple subspecialties
eP294: Return of genome sequencing results in ostensibly healthy COVID-19 positive individuals: GENCOV Study Canada
eP295: Barriers to uptake of genetic services in families of pediatric hypertrophic cardiomyopathy patients
eP297: Overview of pediatric genetic counseling clinic models and genetic counselors' perceptions of them
eP299: Genetics adviser: The development and usability testing of a new patient-centered digital health application to support clinical genomic testing
eP300: Parent attitudes and perceptions after receiving Fragile X premutation results in the Early Check Newborn Screening Pilot Study
eP308: Factors associated with acquisition of inherited cancer knowledge after viewing a web-based educational tool among Black women with breast cancer
eP311: Diagnostic testing for Beckwith-Wiedemann syndrome/Russell-Silver syndrome: The GGC experience
eP313: Too few or too many? Variant reporting burden and diagnostic comparisons of an extensive gene panel with exome-sequencing in immunodeficiency
eP314: Rare unbalanced complex chromosomal rearrangement in a case of infertility: Insight into the 8p23.1 duplication syndrome
eP315: Development of an in-house long read sequencing clinical pharmacogenetic panel
eP321: Extending and adapting the functions of genetic laboratories in the continuing COVID pandemic–challenges and successes
eP322: Comparison of genetic ancestry to self-reported ethnicity and impact upon residual risk following expanded carrier screening
eP325: Medically actionable DNA variation from the GENCOV COVID-19 Genome Sequencing Study
eP326: Genome sequencing reveals BHLHA9 gene duplication as cause of multi-generational split-hand/foot malformation with long bone deficiency
eP327: A quantitative trait GWAS on lens thickness identifies risk loci on PTPRM in the narrow-angle individuals anatomically susceptible to PACG
eP328: Establishing droplet digital PCR method for assessing mitochondrial DNA content in muscle
eP329: Genome sequencing uncovers molecular cause in a case with epileptic encephalopathy
eP330: Mosaicism for SMARCB1 or LZTR1 variants in patients with schwannomatosis in the UAB cohort
eP331: Next-generation sequencing testing in identification and differential diagnosis of hereditary anemia due to erythrocyte membrane disorders, enzymopathies and related disorders
eP332: The importance of parental sequencing depth in the setting of rapid genome sequencing
eP334: Optical genome mapping workflow for constitutional genomic structural and copy number variation and analysis
eP335: Genetic testing for APOB, LDLR, PCSK9, and LDLRAP1 suggest that FH testing may be underutilized
eP336: A tale of two Hbs: DNA sequencing and hemoglobin electrophoresis
eP337: Rapid Genome Sequencing (rGS) as first tier test for critically ill children with suspected genetic etiology
eP338: Efficacy of next generation sequencing data reanalysis in unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis
eP339: Ending the diagnostic odyssey: De novo mosaic pathogenic 2,123 bp deletion in CDKL5 identified on genome sequencing
eP341: The full (mutation) picture: One-third of patients with Fragile X syndrome present with neurodevelopmental disorders without dysmorphism or family history
eP345: Community data-driven approach for generating cross-ethnic population carrier screening panel
eP346: The +5 position of the donor splice site and its role in genetic disorders
eP348: Human Pangenome Reference Consortium Coordinating Center
eP352: Systematic exploration of mosaic variants detected in blood samples from a primary immunodeficiency cohort referred for research exome sequencing
eP353: Testing for Y chromosome in Turner syndrome
eP354: A systematic approach for applying disease-specific phenotype in clinical variant interpretation
eP356: Exome sequencing expands the sensitivity and specificity of identification of sequence variants and CNVs in phenotypic females with DSD
eP357: Molecular diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) using optical genome mapping
eP358: Genetic findings in a cohort of patients with pulmonary arterial hypertension referred for NGS panel testing
eP359: Diagnostic yield of genetic testing in an unselected cohort of patients with congenital heart disease
eP360: Exome analysis of prenatal and postnatal cases referred with skeletal dysplasia-overview of phenotypic and genomic and findings
eP365: Identification of a novel intragenic inversion of DMD exons 18 to 21 in a male with Duchenne muscular dystrophy
eP366: A comprehensive study of E200K genetic Creutzfeldt Jakob disease cases; effects of codon 129 polymorphism
eP368: A streamlined process for assessing the strength of a relationship between a gene and specific disease
eP375: Technical performance of a 455-gene preventative genomics assay
eP377: Enabling single-platform testing and carrier screening of the FMR1, SMN1/2, and CFTR gene trio
eP379: Optical genome mapping for high throughput analysis of repeat expansion disorders
eP380: Sequencing of entire 2.2 MB DMD gene facilitates diagnostic testing and aids selection of patients for therapeutic intervention
eP385: Interpretation of SNP-based NIPS data in the context of heteropaternal twins
eP386: Cystic fibrosis 165 pathogenic variants genotyping by MassARRAY
eP391: Optical genome mapping for constitutional postnatal SV, CNV, and repeat array sizing: A multi-site clinical study
eP394: Investigation and functional characterization of genomic signatures in congenital muscular dystrophy and congenital myopathy patients from India
eP396: Collaborative efforts between clinical genetics, cytogenetics, and neonatology improve genetic testing practices in the NICU
eP399: Characterizing molecular diagnostic findings from next-generation sequencing panel testing for individuals with suspected congenital hypothyroidism or resistance to thyroid hormone
eP402: Partial trisomy of chromosome 22 mediated by chromoanasynthesis in an 8-month-old male
eP403: Finding merit in impurity: Designing a cost-effective workflow for saliva genome sequencing
eP405: Clinical application of 24-hour ultra-rapid genome sequencing in a critically ill neonate
eP408: Prioritizing variant reanalysis based on ClinVar discrepancies can reduce the number of uncertain interpretations
eP410: De novo missense variants in DDX39B cause a novel syndrome characterized by neurodevelopmental delay, short stature and congenital hypotonia
eP413: Type II cat eye syndrome in a newborn with intrauterine growth retardation and echogenic intracardiac focus during pregnancy
eP414: Diagnostic yield and clinical utility of nephrolithiasis and primary hyperoxaluaria sequencing panels
eP415: Team-based genome diagnostics made possible with intuitive web-based iobio tools
eP418: Enabling reclassification of missense variants in PKD1/2 – the power of a commercial laboratory database
eP423: Ethical considerations in a case of non-paternity of a deceased neonate identified through genome sequencing
eP424: Newborn screening is associated with decreased parental depression and stress compared to clinical diagnosis: Results from a cross-sectional survey
eP426: Utilization of the ACMG ACT sheets and algorithms on the ACMG website
eP430: Genetics professionals’ perspectives on the reporting of Variants of Uncertain Significance (VUS): Should they always be reported?
eP431: Applying the clinician-reported genetic testing utility InDEx (C-GUIDE) to genome sequencing
eP436: Genetics preparedness among frontline clinicians and the demand for genetics providers: The Wisdom Paradox
eP439: A survey on the satisfaction of standard primary care residency training in genetics education
eP443: Fetal fraction amplification within NIPS enables detection of clinically-relevant genome-wide copy-number variants to 1Mb resolution
eP445: Fatty acid oxidation disorders and acute fatty liver of pregnancy- is it always the LCHAD deficiency 1528G>C variant?
eP452: Diagnostic yield and outcomes of NGS testing in pregnancies with a fetal structural anomaly
eP456: Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy-Like lymphedema: First prenatal case report
eP459: Rare clinical gene variant of SOX9: Acampomelic campomelic dysplasia
eP460: Diagnostic dilemma in a case of suspected fetal skeletal dysplasia
eP461: Barriers to prenatal genetic testing for male partners at a Los Angeles County public teaching hospital
eP462: Detection of clinically relevant exonic copy number changes in fetuses by chromosomal microarray analysis
eP463: Inconclusive Duchenne Muscular Dystrophy (DMD) carrier screening and atypical SNP-based NIPS sex chromosomes analysis suggest maternal sex chromosome abnormality
eP464: No chromosome abnormality left behind: When karyotype following positive cfDNA screening does not tell the full story
eP467: Prenatal genetic testing can lead to (almost) self-fulfilling prophecy: Diastrophic dysplasia as an example
eP470: Racial and ethnic disparities in universal expanded carrier screening completion in an inner city population
eP471: The role of clinical exome sequencing in genetic diagnosing of skeletal dysplasia in fetus detected by prenatal ultrasound in Vietnam
eP472: Deriving risk estimates for balanced rearrangement carriers utilizing PGT-SR data
eP476: Applying implementation science to support the success of a precision health initiative in a learning health system
eP477: A classifier prioritizing exome and genome sequencing cases for re-analysis
eP479: Primary care providers’ use of genetic services in the Southeast United States: Barriers, facilitators, and strategies
eP481: Advancing genetic disease understanding and improving health outcomes: The LTFU-Cares and LTFU-Check Initiative
eP483: Integrating family health history screening and genetic testing via electronic health record with clinical decision support in routine mammography screening
eP486: Demonstrating the utility of consumer initiated genetic testing: The identification of a family with vascular Ehlers-Danlos syndrome
eP487: Universal newborn screening of congenital cytomegalovirus using dried blood spots and qPCR
eP488: Patient-centric adaptations for pheNIX clinical trial evaluating HMI-102 gene therapy in adults with PKU in the era of COVID-19
eP489: Exploring engagement and uptake of a comprehensive family history-based cancer risk assessment tool
eP490: A united front on tackling a pandemic – the true value of industry and government partnerships
eP493: Population genetic screening study participants intend to share test results with family members
eP496: Essential workforce for a successful precision medicine program
eP501: Family engagement within the genetics delivery system: Family perspective
eP503: Variables associated with parental decision to receive Fragile X premutation results after newborn screening for Fragile X syndrome
eP505: Physicians’ attitudes about integrating genetic testing into primary care as an elective clinical service: The Sanford Health experience
eP507: Patients’ reasons for genetic testing refusal in cancer evaluations: An analysis of the literature and opportunities to educate
eP509: Implementation and impact of dedicated inpatient genetic counselors in a children’s hospital
eP512: Identifying clinical and psychological factors associated with genomics-related outcomes in a centralized sequencing protocol
eP514: Extending cascade screening using genealogy, DTC genetics and social media – the ConnectMyVariant exploratory pilot study
eP515: Family-level utility of pediatric genomic sequencing: A qualitative analysis and attribute framework
eP520: Screening results in 186 any-health-status adults in primary care clinics receiving clinical NGS for 431 health risk and recessive genes
OP003: Characterization of variants of uncertain significance in very long-chain acyl-CoA dehyrogenase identified through newborn screening
OP004: Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter
OP005: AT-007 significantly reduces toxic galactitol in ACTION-galactosemia kids - the 1st therapeutic interventional clinical trial in children with classic galactosemia
OP007: Cardiolipin remodeling deregulation and mitochondrial bioenergetics alterations in trifunctional protein (TFP) deficiency
OP008: Implementation of a universal somatic tumor screening program for hereditary cancer in patients with advanced cancer in a large HMO
OP009: Feasibility of a traceback approach to facilitate genetic testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) study
OP010: Germline genetic testing outcomes in a cohort of pediatric patients with hematological malignancies or primary immunodeficiencies undergoing bone marrow transplantation
OP013: Landscape of germline pathogenic variants in cancer susceptibility genes in patients with sarcoma
OP019: A tertiary care clinical sequencing program for patients with suspected immune defects: Results from the first 1000 families
OP021: Vosoritide for children with achondroplasia: Growth velocity and pubertal milestones
OP023: A clinical scoring system for early onset (neonatal) Marfan syndrome
OP027: Patient-initiated genetic counseling through an online hereditary cancer questionnaire
OP029: Genetic updates returned by GenomeConnect, the ClinGen patient registry: A pilot study of participant experience
OP031: The emotional experience of hemophilia heterozygote women: Average maternal guilt, effective coping strategies, and resilience within the hemophilia community
OP033: An integrated multiomic panel as an excellent tool for the genetic diagnosis of metabolic diseases: Our first 3,720 patients
OP034: Evaluation of the 2019 ACMG-ClinGen guidelines for interpretation of copy-number variants with borderline classifications at an academic clinical diagnostics laboratory
OP038: Novel whole methylome automated data analysis tool for investigation of unsolved diagnostic odyssey cases
OP042: A matter of opinion: An exploratory study of parental attitudes towards newborn screening for conditions of varying onset and treatability
OP043: The evolving attitude towards privacy and security of personal genomic data
OP045: Status of training in genomics for clinical informatics and informatics for genomic medicine
OP046: Stigma manifestations impact patient and clinical outcomes in cardiogenetic care: “Sometimes it’s depressing. Sometimes I feel like giving up.”
OP048: The impact of route of delivery on surgical morbidity in fetuses affected by achondroplasia: A multicenter retrospective study
OP050: Cell-free DNA fetal fraction and adverse obstetric outcomes in twin pregnancy
OP053: Barriers to completion of expanded carrier screening in an inner city population
OP056: ScreenPlus pilot newborn screening: recruitment and engagement findings from the first 300 consented infants
OP057: Implementation of universal Lynch syndrome tumor screening programs – A comparison of health care systems with and without programs
OP058: 2021 genetics policies in state Medicaid programs
eP422: Diagnostic rate of genetic testing in a pediatric research cohort with clinical insurance denials
eP442: Patients’ reaction to and interpretation of secondary genomic findings with limited or no medical actionability
OP024: Discovery and therapeutic implications of pathogenic retroelements in neurodegenerative diseases
OP047: Timely diagnosis of mucopolysaccharidosis: Results from an innovative physician education program with a national outreach
OP054: Chromosomal microarray analysis for open neural tube defect: The prevalence of significant results and implications on in utero repair
OP059: Clinical impact of a targeted pharmacogenomic assessment within a cohort of individuals with suspected inborn errors of immunity
Editorial Board
Dominant negative effects of SCN5A missense variants
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes
Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene–phenotype reassessment in clinical routine
Perspectives of United States neonatologists on genetic testing practices
Expanding the phenotypic spectrum of ARCN1-related syndrome
Editorial Board
Masthead
Table of Contents
Response to Righetti et al
Cost-effectiveness of population-wide genomic screening for Lynch syndrome in the United States
Integration of stakeholder engagement from development to dissemination in genomic medicine research: Approaches and outcomes from the CSER Consortium
Pancreatic cancer risk to siblings of probands in bilineal cancer settings
Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis
MECOM-related disorder: Radioulnar synostosis without hematological aberration due to unique variants
The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network
Response to Chambuso et al
Universal tumor screening in a population with MSH6- and PMS2-associated Lynch syndrome
Worldwide prevalence of Lynch syndrome in patients with colorectal cancer: Systematic review and meta-analysis
Response to Leidi et al
Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children
Correspondence on “Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database” by Dominguez-Valentin et al
Correspondence on “Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)” by
Loss-of-function variants in KLF4 underlie autosomal dominant palmoplantar keratoderma
Correspondence on “Expanded phenotype of AARS1-related white matter disease” by Helman et al
Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
Centers for Mendelian Genomics: A decade of facilitating gene discovery
Return of genomic results does not motivate intent to participate in research for all: Perspectives across 22 countries
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Varia
Correspondence on “Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: A practice resource of the American College of Medical Genetics and Genomics (ACMG)” by
Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting
Masthead
Table of Contents
Editorial Board
A practical guide to interpreting germline variants that drive hematopoietic malignancies, bone marrow failure, and chronic cytopenias
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort
Self-rated family health history knowledge among All of Us program participants
Re-analysis of genomic data: An overview of the mechanisms and complexities of clinical adoption
Testing and extending strategies for identifying genetic disease–related encounters in pediatric patients
Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis
Genetic Determinants of Sudden Unexpected Death in Pediatrics
Biallelic p.V37I variant in GJB2 is associated with increasing incidence of hearing loss with age
DNA methylation episignature in Gabriele-de Vries syndrome
Table of Contents
Editorial Board
Masthead
The rare disease neurofibromatosis 1 as a source of hereditary economic inequality: Evidence from Finland
Evaluating the impact of in silico predictors on clinical variant classification
Increasing inclusivity in precision medicine research: Views of deaf and hard of hearing individuals
Response to Dwyer et al
Correspondence on “Ensuring best practice in genomics education and evaluation: Reporting item standards for education and its evaluation in genomics (RISE2 Genomics)” by Nisselle et al
Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG)
Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
Polygenic risk scores for prediction of breast cancer risk in Asian populations
Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children
A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders
Response to Cueto-González et al
Structural mapping of GABRB3 variants reveals genotype–phenotype correlations
Correspondence on “Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype” by Zanoni et al
ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance
Identification and quantification of oligogenic loss-of-function disorders
The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence
Targeted BRCA1/2 population screening among Ashkenazi Jewish individuals using a web-enabled medical model: An observational cohort study							✓		Ashkenazi Jewish
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomi
Correspondence on “Exploring the motivations of research participants who chose not to learn medically actionable secondary findings about themselves” by Schupmann et al
Genetic testing in Non-Hispanic Black women with breast cancer treated within an equal-access healthcare system
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
US private payers’ perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER)
Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
Children with genetic conditions in the United States: Prevalence estimates from the 2016-2017 National Survey of Children’s Health
Artificial intelligence (AI)-assisted exome reanalysis greatly aids in the identification of new positive cases and reduces analysis time in a clinical diagnostic laboratory
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
The splicing effect of variants at branchpoint elements in cancer genes
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability
Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank
An innovative medical school curriculum to enhance exposure to genetics and genomics: Updates and outcomes
Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders
Response to Timothé Ménard
Systematic review of outcomes in studies of reproductive genetic carrier screening: Towards development of a core outcome set
Improved provider preparedness through an 8-part genetics and genomic education program
Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study
Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts
Response to Shen et al.
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency
Response to McGurk et al
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD
Correspondence on “cost or price of sequencing? implications for economic evaluations in genomic medicine” by Grosse and Gudgeon
Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype
Multiomics subtyping for clinically prognostic cancer subtypes and personalized therapy: A systematic review and meta-analysis
The relationship between performance on the medical genetics and genomics in-training and certifying examinations
Response to Clayton et al.
The training of future clinical geneticists: Evaluation and reflection on the ACMG Foundation for Genetic and Genomic Medicine Summer Genetics Scholars Program
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies
The difficulties of broad data sharing in genomic medicine: Empirical evidence from diverse participants in prenatal and pediatric clinical genomics research
Predictors of low bone density and fracture risk in Loeys–Dietz syndrome
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement
The comorbidity landscape of 47,XXX syndrome: A nationwide epidemiologic study
Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity
Correspondence on “ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)” by
KDM1A inactivation causes hereditary food-dependent Cushing syndrome
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency
Reevaluating the “right not to know” in genomics research
Addendum: Technical standards and guidelines: Molecular genetic testing for ultra-rare disorders
GM3 synthase deficiency in non-Amish patients
Precision medicine research with American Indian and Alaska Native communities: Results of a deliberative engagement with tribal leaders
Become an ambassador to recruit the next generation in genomic medicine
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48
Accurate assignment of disease liability to genetic variants using only population data
Risk of cancer in heterozygous relatives of patients with Fanconi anemia
Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada
Heterogeneity in how women value risk-stratified breast screening
A guidelines-consistent carrier screening panel that supports equity across diverse populations
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans
Correspondence on “Treatment of ARS deficiencies with specific amino acids” by Kok et al
Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates
The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review
Correspondence on “Artificial intelligence–assisted phenotype discovery of fragile X syndrome in a population-based sample” by Movaghar et al
Consistent count region–copy number variation (CCR-CNV): an expandable and robust tool for clinical diagnosis of copy number variation at the exon level using next-generation sequencing data
Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family history
Genome sequencing as a first-line diagnostic test for hospitalized infants
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort
The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause
Automated reanalysis application to assist in detecting novel gene–disease associations after genome sequencing
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants
Motivations and concerns of patients considering participation in an implementation study of a hereditary cancer risk assessment program in diverse primary care settings
Diversity in cancer genomics research is a matter of equity and scientific discovery
Carrier screening in the Mexican Jewish community using a pan-ethnic expanded carrier screening NGS panel
Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants