Genetics in Medicine

Article	Citations
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation	381
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)	365
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (	281
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)	174
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)	173
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)	164
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders	105
ACMG SF v3.2 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)	104
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men	99
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation	92
Clinical outcomes of a genomic screening program for actionable genetic conditions	87
The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources	82
The 2019 US medical genetics workforce: a focus on clinical genetics	82
Deletion of the NKG2C receptor encoding KLRC2 gene and HLA-E variants are risk factors for severe COVID-19	81
Role of POLE and POLD1 in familial cancer	80
Clinical impact of genomic testing in patients with suspected monogenic kidney disease	79
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	78
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)	78
Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants	72
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification	70
Health equity in the implementation of genomics and precision medicine: A public health imperative	69
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening	66
Individuals with Down syndrome hospitalized with COVID-19 have more severe disease	65
A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism	65
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls	65

A genomics approach to male infertility	63
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (AC	61
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants	55
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies	52
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility	51
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation	51
Expanding evidence leads to new pharmacogenomics payer coverage	51
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project	51
Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: a systematic review	50
Centers for Mendelian Genomics: A decade of facilitating gene discovery	50
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study	49
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes	49
Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort	49
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency	49
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)	48
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes	48
Returning integrated genomic risk and clinical recommendations: The eMERGE study	46
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)	46
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies	45
Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children	45
Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis	45
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results	44
Individuals with common diseases but with a low polygenic risk score could be prioritized for rare variant screening	43
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders	43
Can you hear us now? The impact of health-care utilization by rare disease patients in the United States	43
Screening embryos for polygenic conditions and traits: ethical considerations for an emerging technology	42
A six-attribute classification of geneticmosaicism	42
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions	41
Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing	41
Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States	39
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire	38
Interpreting the impact of noncoding structural variation in neurodevelopmental disorders	38
Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders	38
Uniparental disomy in a population of 32,067 clinical exome trios	38
Re-analysis of genomic data: An overview of the mechanisms and complexities of clinical adoption	37
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2	37
Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer	37
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior	37
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration	37
Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis	37
Genotype–phenotype correlations in recessive titinopathies	37
The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation	37
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change	37
Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies	36
Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders	36
Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range	36
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome	35
A systematic review of monogenic etiologies of nonimmune hydrops fetalis	35
A model-based cost-effectiveness analysis of pharmacogenomic panel testing in cardiovascular disease management: preemptive, reactive, or none?	35
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics	35

The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals	35
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy	35
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns	35
Breast cancer risk stratification in women of screening age: Incremental effects of adding mammographic density, polygenic risk, and a gene panel	34
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48	34
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots	34
KDM1A inactivation causes hereditary food-dependent Cushing syndrome	34
Multisite investigation of strategies for the clinical implementation of pre-emptive pharmacogenetic testing	34
Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (	33
Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)	33
Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease	33
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth	33
Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)	33
Polygenic risk scores for prediction of breast cancer risk in Asian populations	33
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	32
Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis	32
Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease	32
Taking an antiracist posture in scientific publications in human genetics and genomics	32
Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations	32
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment	32
Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)	32
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care	31
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions	31
Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases	31
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children	31
Dopachrome tautomerase variants in patients with oculocutaneous albinism	31
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induct	31
Real-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative	30
Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss	30
Implementation of preemptive DNA sequence–based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study	30
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies	29
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions	29
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype	29
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation	29
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids	29
The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)	29
Worldwide prevalence of Lynch syndrome in patients with colorectal cancer: Systematic review and meta-analysis	28
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome	28
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies	28
Application of exome sequencing for prenatal diagnosis: a rapid scoping review	28
An integrative multiomics analysis identifies putative causal genes for COVID-19 severity	27
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report	27
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm	27
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study	27
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction	26
Genetic Determinants of Sudden Unexpected Death in Pediatrics	26
Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations	26
Improved provider preparedness through an 8-part genetics and genomic education program	26
Genome sequencing as a first-line diagnostic test for hospitalized infants	26
Artificial intelligence (AI)-assisted exome reanalysis greatly aids in the identification of new positive cases and reduces analysis time in a clinical diagnostic laboratory	26
Evaluating the impact of in silico predictors on clinical variant classification	26
Predicting the risk of cardiac myxoma in Carney complex	26
Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family history	26
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy	26
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome	26
Correction to: 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)	25
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield	25
Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time	25
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation	25
Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy-number variants	25
Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review	25
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice	25
Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome	25
Impact of integrated translational research on clinical exome sequencing	25
Participant choices for return of genomic results in the eMERGE Network	24
Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance	24
The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care	24
High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study	24
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients	24
Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)	24
Universal newborn genetic screening for pediatric cancer predisposition syndromes: model-based insights	23
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia	23
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)	23
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1	23
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency	23
Alpelisib for treatment of patients with PIK3CA-related overgrowth spectrum (PROS)	23
Detection and characterization of male sex chromosome abnormalities in the UK Biobank study	23
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science	23
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals	23
High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening	22

Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes	22
Treatment of ARS deficiencies with specific amino acids	22
Impact of personal genomic risk information on melanoma prevention behaviors and psychological outcomes: a randomized controlled trial	22
Considerations in assessing germline variant pathogenicity using cosegregation analysis	22
Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children	22
Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)	22
Call for improvement in medical school training in genetics: results of a national survey	22
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants	21
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases	21
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency	21
The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review	21
A state-based approach to genomics for rare disease and population screening	21
Establishing the value of genomics in medicine: the IGNITE Pragmatic Trials Network	21
Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)	21
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss	20
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort	20
Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes	20
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3	20
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations	20
Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG)	20
“It seems like COVID-19 now is the only disease present on Earth”: living with a rare or undiagnosed disease during the COVID-19 pandemic	20
Disclosure of genetic information to family members: a systematic review of normative documents	20
Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size	20
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension	20
A hybrid implementation-effectiveness randomized trial of CYP2D6-guided postoperative pain management	20
Videoconferencing to deliver genetics services: a systematic review of telegenetics in light of the COVID-19 pandemic	20
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria	20
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome	20
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females	20
Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals	20
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition	20
Evaluating variants classified as pathogenic in ClinVar in the DDD Study	20
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2	19
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	19
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes	19
(Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada	19
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations	19
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder	19
GUÍA: a digital platform to facilitate result disclosure in genetic counseling	19
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder	19
Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism	19
Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions	19
Geleophysic and acromicric dysplasias: natural history, genotype–phenotype correlations, and management guidelines from 38 cases	19
DLG4-related synaptopathy: a new rare brain disorder	19
Cystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth	19
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant	19
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features	19
Low-pass genome sequencing–based detection of absence of heterozygosity: validation in clinical cytogenetics	19
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy	19
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females	18
Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort	18
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability	18
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (AC	18
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results	18
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities	18
From genes to public health: are we ready for DNA-based population screening?	18
Pathogenic variants of meiotic double strand break (DSB) formation genes PRDM9 and ANKRD31 in premature ovarian insufficiency	18
The role of clinical response to treatment in determining pathogenicity of genomic variants	18
Is precision medicine relevant in the age of COVID-19?	18
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities	18
Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test	18
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype–phenotype correlation in congenital central hypoventilation syndrome (CCHS)	18
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening	18
Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study	18
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy	18
Reproductive outcomes in individuals with chromosomal reciprocal translocations	18
The genetic architecture of Plakophilin 2 cardiomyopathy	17
Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)	17
Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics	17
A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes	17
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)	17
Assessment of technical heterogeneity among diagnostic tests to detect germline risk variants for hematopoietic malignancies	17
CNV profiles of Chinese pediatric patients with developmental disorders	17
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein	17
Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma–pheochromocytoma syndrome	17
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	17
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis	17
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?	17
Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy	17
Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations	17
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications	17
Assessing non-Mendelian inheritance in inherited axonopathies	17
Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death	17
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels	17
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder	17
Exploring the motivations of research participants who chose not to learn medically actionable secondary genetic findings about themselves	17
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia	17
Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth	16
Exploring Autistic adults’ perspectives on genetic testing for autism	16
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature	16
Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc	16
Artificial intelligence–assisted phenotype discovery of fragile X syndrome in a population-based sample	16
The design, implementation, and effectiveness of intervention strategies aimed at improving genetic referral practices: a systematic review of the literature	16
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia	16
Neurofilament light chain levels correlate with clinical measures in CLN3 disease	16