Genetics in Medicine

Papers
(The TQCC of Genetics in Medicine is 6. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-03-01 to 2025-03-01.)
ArticleCitations
Predictors of low bone density and fracture risk in Loeys–Dietz syndrome416
Editorial Board382
Alleviating misclassified germline variants in underrepresented populations: A strategy using popmax317
Editorial Board183
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities173
Structural mapping of GABRB3 variants reveals genotype–phenotype correlations164
The design, implementation, and effectiveness of intervention strategies aimed at improving genetic referral practices: a systematic review of the literature136
The training of future clinical geneticists: Evaluation and reflection on the ACMG Foundation for Genetic and Genomic Medicine Summer Genetics Scholars Program119
Editorial Board106
The behavioral profile of 49,XXXXY and the potential impact of testosterone replacement therapy98
Polygenic risk scores and risk-stratified breast cancer screening: Familiarity and perspectives of health care professionals93
eP049: Discordant fluorescence in situ hybridization and RNASeq results in the identification of fusion partners in recurring translocations in hematological malignancies87
eP143: Newborn screening for X-linked adrenoleukodystrophy: Identification of isodisomy of X in an affected female infant83
eP053: Detection of rare and novel fusions in pediatric B-Lymphoblastic Leukemia (B-ALL) by capture-based transcriptome sequencing (RNA-Seq)81
eP167: The impact of glycogen storage disease type III on children and adults: Results from an online survey78
eP179: Expanding the phenotype of CLCN6-associated early-onset neurodegeneration75
eP225: Novel compound variants in IGHMBP2 associated with CMT70
eP060: Characterizing the complex chromosomal rearrangements in a Philadelphia negative BCR/ABL1 positive case69
eP222: Gene variant and neuromuscular findings from a long-chain fatty acid oxidation disorder gene panel program66
eP062: Clinically significant goiters as the initial presentation of PTEN hamartoma tumor syndrome65
eP068: Homozygous SMN1 single nucleotide variant in a patient with SMA type 063
eP171: Family of three with truncating pathogenic variant in NFIA leading to central nervous system and urinary tract defects61
eP245: INCEPTUS multinational, prospective, natural history, run-in study of males with X-linked myotubular myopathy58
eP145: Severe Pierre Robin sequence and hydrocephalus in infant with TUBB3 variant56
eP169: A case report of Ververi-Brady syndrome: Expanding the genotype and phenotype56
eP317: Comparative benchmarking of optical genome mapping and chromosomal microarray reveals high technological concordance in CNV identification and structural variant refinement55
eP256: Intrafamilial variability in chromosome 2q13 microdeletion: Case report and review of the literature55
eP191: Isodicentric(Y)(p11.2) mosaicism in newborn with 46,XX cells55
eP258: Pre-analytical considerations are important in the pharmacological assessment of enzyme therapeutics54
eP227: Placental accelerated aging in antenatal depression54
eP279: More renal genetics specialists are needed: Experience from a tertiary medical center51
eP080: A rare case of mosaic trisomy 15 with chylothorax51
eP138: An informatics star allele calling workflow for direct typing of CYP2D6 from fully phased variants using PacBio HiFi reads50
eP434: Celebrating and commemorating the 2022 bicentennial of Mendel’s birth, the exhumation of Mendel's body for archeologic, anthropologic, and genomic research49
eP312: Exon level array utility in follow up to identification of copy number variants on expanded carrier screening49
eP324: Biallelic variants in DLL1 as a novel cause of severe spondylocostal dysostosis49
eP162: Mosaic variant in ENG in infant with pulmonary arteriovenous malformations: Case report and review of hereditary hemorrhagic telangiectasia48
eP367: How a GUS can fly: Triaging genes of uncertain significance in a clinical laboratory setting48
eP093: De novo interstitial deletion of chromosome 7p22.1p21.2: A case report48
eP361: Democratizing carrier screening: A 34-gene panel of routine and challenging targets resolved using a single workflow48
eP323: Case-control study to identify key residues and domains within hereditary renal disease gene panel to aid in VUS reclassification45
eP428: Gender and sex discordance in genetic testing: Mayo Clinic Genomics Laboratory experience44
eP213: Phase 2 multiple ascending-dose study of SRP-5051 PPMO in patients with DMD amenable to exon 51 skipping: Part A results43
eP382: Providing more answers for patients with supplemental RNA analysis42
eP395: Calculating recurrence risk in an individual with an intrachromosomal structural rearrangement42
eP466: The use of next generation prenatal screening in a low resource setting among Non-Hispanic Black and Hispanic patients42
eP416: Assessment of the clinical implication of additional cytogenetic abnormalities in acute lymphoblastic leukemia with t(4;11)(q21;q23)42
eP075: The evolution of a diagnostic odyssey41
eP441: Evaluation of growth in perceived clinical genetics competency among primary care providers participating in genomic population health screening40
eP404: Evidence supporting the pathogenicity of the NADSYN1 c.1717G>A (p.Ala573Thr) variant in individuals referred for clinical testing39
eP285: Hidden threats: Identifying genetic risks for cardiomyopathy complications in healthy pregnant women38
eP480: Project ECHO for pediatric genetics in Mississippi: Expanding access to the clinical genetics workup for autism and intellectual disability38
eP444: Cases of isodicentric and isochromosome-related false negatives on SNP-based cell free DNA aneuploidy screening38
eP478: Identifying the current status and future needs of clinical, educational, and laboratory genetics services in Pakistan: A web-based panel discussion38
eP453: Diagnosis of Hereditary Hemorrhagic Telangiectasia (HHT) in the postpartum period: A case report38
eP320: AI-based method to estimate the probability of a variant being an artifact37
eP205: Pharmacogenetic profiling via genome sequencing in children with medical complexity37
eP390: Leveraging unique chromosomal microarray probes to resolve complex copy number variation at the highly homologous deafness-infertility syndrome locus at 15q15.337
eP438: Ethical issues related to gene therapy with onasemnogene abeparvovec for spinal muscular atrophy type 1 in a developing country37
eP134: Functional characterization of Variants of Uncertain Significance (VUSs) identified in patients with early-life epilepsy in Hong Kong37
eP063: Genetic variants associated with childhood cancers: Curation initiatives of the ClinGen Somatic Cancer Pediatric Taskforce36
eP007: Delayed onset hyperammonemic encephalopathy in an adult with GLUD1 deficiency36
eP214: Prevalence of cardiac manifestations in patients with hypermobile Ehlers-Danlos syndrome at the University of Miami36
eP381: Diverse presentation of PARK2 gene variant patients: Array CGH study of nine cases with PARK2 disruption35
eP290: A mosaic Angelman syndrome case with language apraxia and symptoms overlapping Prader-Willi syndrome35
eP388: Optical genome mapping capability expanded to enable detection of absence of heterozygosity35
eP455: Fetal ultrasound presentation and neonatal diagnosis of Freeman-Sheldon syndrome in son of previously undiagnosed adult male34
eP492: The ScreenPlus model for collective funding of pilot newborn screening34
eP495: Introduction to Odyssey: Real-world rare disease data collection program for patients with long-chain fatty acid oxidation disorders in the US34
eP494: Integration of genomics into primary care via the Alabama Genomic Health Initiative33
eP513: “Doctors shouldn’t have to cheat the system”: Clinicians’ real-world experiences of the utility of genomic sequencing33
eP511: Improved insurance coverage of exome sequencing in an outpatient medical genetics clinic increases in diagnoses and positively impacts clinical management33
OP006: Is it time to move beyond acylcarnitine profiles? Lessons from the clinical application of a high-definition LC-MS/MS acylcarnitine method.33
eP498: Detection of congenital cytomegalovirus infection on high-risk newborn population33
eP508: Integration of personalized medicine into primary care clinics: A path to make large scale population genomics studies successful33
OP028: At the intersection of technology and genetics: A pilot study exploring virtual assistant use with non-invasive prenatal screening result disclosure32
OP036: Application of RNA sequencing evidence improves equity in variant interpretation32
OP026: Genetic counseling for personal health risk in individuals heterozygous for hypophosphatasia variants identified through expanded carrier screening32
OP025: Integration of genome sequencing in the inpatient setting: A mixed methods study exploring collaboration models between genetics and bedside teams32
OP051: Genetic characteristics and prenatal phenotyping of RASopathy spectrum diagnosed by exome sequencing for nonimmune hydrops fetalis31
OP060: Rare diseases, common barriers: Disparities in clinical genetics outcomes31
OP055: Comparing error rates in disclosure of genome sequencing results between non-genetics providers and genetic counselors31
OP037: Assessing the impact of expanded ACMG secondary findings recommendations on population genomic screening in the Geisinger MyCode Community Health Initiative31
eP017: GNE gene variants associated with thrombocytopenia with or without GNE myopathy31
eP268: DVL2 – A newly identified genetic cause of Robinow syndrome?30
eP206: Novel variant in ARSA associated with late infantile metachromatic leukodystrophy and heterozygote rate in individuals of Ashkenazi Jewish ancestry30
eP186: Novel SNRPE-related spliceosomopathy characterized by microcephaly and congenital atrichia30
eP043: Membrane Metalloendopeptidase (MME) positively regulates Phosphoinositide 3-Kinase (PI3K) signaling in triple negative breast cancer30
eP064: Consumer-initiated genetic testing identifies individuals predisposed to multiple hereditary cancer syndromes30
eP011: Diagnosis of DNAJC12-deficient hyperphenylalaninemia offers targeted therapeutic options to counteract neurotransmitter deficiency29
eP344: Making the grade: How carrier screening panels score against the American College of Medical Genetics and Genomics “Tier 3” recommendations29
eP276: Development of an overdue outreach program to improve adherence to phenylketonuria management29
eP056: Myelodysplastic syndrome/myeloproliferative neoplasm with highly complex intrachromosomal rearrangements resulting from multiple 5q15q32 deletions, 5’PDGFRβ deletion, pericentric inversion and 28
eP032: Measurement of Nicotinamide Adenine Dinucleotide (NAD+) from dried blood spot cards28
eP001: Newborn screening experience for very long chain Acyl-CoA Dehydrogenase (VLCAD) deficiency in Kuwait27
eP133: Genome sequencing and chromosomal microarray as a tool for evaluating phenotypic variability in individuals with X and Y chromosome variations27
eP047: Germline cancer predisposition variants in a cohort of early-onset Merkel cell carcinoma patients27
eP106: BRSK2-related neurodevelopmental disorder: Novel pathogenic variant and review of literature27
TTR variants in patients with dilated cardiomyopathy: An investigation of the DCM Precision Medicine Study26
eP435: Issues in interpreting results in research genomic testing for common disorders: an example within an OCD cohort26
Systematic review of outcomes in studies of reproductive genetic carrier screening: Towards development of a core outcome set26
eP420: Clinical utility of a 38-gene NGS panel in diagnosing patients with hemolytic anemia: A retrospective review of 435 cases26
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome26
eP033: COASY-associated pontocerebellar hypoplasia – A possible additional secondary target detectable by expanded newborn screening?26
Deletion of the NKG2C receptor encoding KLRC2 gene and HLA-E variants are risk factors for severe COVID-1925
Real-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative25
Expanding evidence leads to new pharmacogenomics payer coverage25
Treatment of ARS deficiencies with specific amino acids25
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 review25
Masthead25
Real world outcomes and implementation pathways of exome sequencing in an adult genetic department25
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder25
Clinical and genomic characterization of 8p cytogenomic disorders25
Editorial Board25
Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG)24
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)24
Response to Righetti et al24
Correspondence on “Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consorti24
Table of Contents24
Considerations for policymakers for improving health care through telegenetics: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)24
Editorial board23
Table of Contents23
In This Issue23
Carrier screening in the Mexican Jewish community using a pan-ethnic expanded carrier screening NGS panel23
Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing22
Table of Contents22
High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study22
Diversity in cancer genomics research is a matter of equity and scientific discovery22
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 al22
Table of Contents22
Editorial Board21
Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)21
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease21
Editorial Board21
Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders21
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype–phenotype correlation in congenital central hypoventilation syndrome (CCHS)21
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome21
Severity modeling of propionic acidemia using clinical and laboratory biomarkers21
Molecular testing in newborn screening: VUS burden among true positives and secondary reproductive limitations via expanded carrier screening panels20
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder20
The predicted effect and cost-effectiveness of tailoring colonoscopic surveillance according to mismatch repair gene in patients with Lynch syndrome20
Screening embryos for polygenic conditions and traits: ethical considerations for an emerging technology20
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy20
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling20
Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review20
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 220
The effect of early hormonal treatment (EHT) on expressive and receptive language capabilities in boys with 47,XXY (Klinefelter syndrome) during infancy and early childhood20
Gene selection for genomic newborn screening: Moving toward consensus?20
Table of Contents20
The 2019 US medical genetics workforce: a focus on clinical genetics20
From genes to public health: are we ready for DNA-based population screening?20
Table of Contents20
Damaging variants in FOXI3 cause microtia and craniofacial microsomia20
Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities19
Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease19
Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing19
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes19
A practical guide to interpreting germline variants that drive hematopoietic malignancies, bone marrow failure, and chronic cytopenias19
Evaluating the resource implications of different service delivery models for offering additional genomic findings19
Contemplating syndromic autism19
DLG4-related synaptopathy: a new rare brain disorder19
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III19
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy19
Motivations and concerns of patients considering participation in an implementation study of a hereditary cancer risk assessment program in diverse primary care settings19
Editorial Board19
Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations19
Correspondence on “The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2” by Lai et al19
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants19
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants19
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening19
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies18
A clinical scoring system for early onset (neonatal) Marfan syndrome18
An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes18
Desperately seeking solutions18
Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review18
Words matter: The language of difference in human genetics18
The comorbidity landscape of 47,XXX syndrome: A nationwide epidemiologic study18
A longitudinal perspective of hormone replacement therapies (HRTs) on neuromotor capabilities in males with 47,XXY (Klinefelter syndrome)18
“Extremely slow and capricious”: A qualitative exploration of genetic researcher priorities in selecting shared data resources18
The rare disease neurofibromatosis 1 as a source of hereditary economic inequality: Evidence from Finland18
Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome18
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder18
The relationship between performance on the medical genetics and genomics in-training and certifying examinations18
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)” by18
Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation18
Scoping review and classification of deep learning in medical genetics18
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions18
Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines18
Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories17
Reading skills in males with 47,XXY: Risk factors and the influence of hormonal replacement therapy (HRT)17
Multilevel barriers and facilitators to widespread use of preconception carrier screening in the United States17
Response to Beretich and Beretich17
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy17
Evaluating breast cancer predisposition genes in women of African ancestry17
Practical considerations for reinterpretation of individual genetic variants17
Optimization of polygenic risk scores in BRCA1/2 pathogenic variant heterozygotes in epithelial ovarian cancer17
Individualized interventions for rare genetic conditions and the research-treatment spectrum: Stakeholder perspectives17
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes17
Performance of prenatal cfDNA screening for sex chromosomes17
Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomic17
Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies16
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure16
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases16
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders16
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project16
Where there is no genetic counselor: An online decision-aid supports the majority of parents’ diagnostic genomic testing choices for their children16
Rare-variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome16
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders16
Individuals with common diseases but with a low polygenic risk score could be prioritized for rare variant screening16
The clinical geneticist workforce: Community forums to address challenges and opportunities16
Health-literate care organizations for precision health16
Health care utilization and behavior changes after workplace genetic testing at a large US health care system16
Provision and availability of genomic medicine services in Level IV neonatal intensive care units16
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK216
The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation16
“It’s hard to wait”: Provider perspectives on current genomic care in safety-net NICUs16
Breast cancer after ovarian cancer in BRCA1 and BRCA2 pathogenic variant heterozygotes: Lower rates for 5 years post chemotherapy16
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing16
Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy15
Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort15
A Genomic Counseling Model for Population-Based Sequencing: A Pre-Post Intervention Study15
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries15
Trainee perspectives of COVID-19 impact on medical genetics education15
Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain—a patient-reported outcome efficacy measure15
Impact of integrating genomic data into the electronic health record on genetics care delivery15
OP018: ASPIRO gene therapy trial in X-Linked Myotubular Myopathy (XLMTM): Update on preliminary efficacy and safety findings15
The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)15
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency15
Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data15
Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders15
Parents' experiences with sequencing of all known pediatric cancer predisposition genes in children with cancer15
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder15
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis15
eP234: SERPINA1 sequencing facilitates detection of undiagnosed Alpha-1 antitrypsin deficiency15
Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)15
Microcosting genomics: Challenges and opportunities15
Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 1115
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses15
Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children15
Exploring the motivations of research participants who chose not to learn medically actionable secondary genetic findings about themselves15
Improved provider preparedness through an 8-part genetics and genomic education program15
Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)15
Table of Contents14
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families14
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)14
Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants14
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders14
Correction to: 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)14
Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders14
Addendum: American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease14
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