| Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion |
53 |
| Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss |
36 |
| Mutational spectrum in a worldwide study of 700 families with BRCA1 or BRCA2 mutations |
34 |
| ClinVar at five years: Delivering on the promise |
33 |
| A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3 |
25 |
| ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation |
25 |
| Iranome: A catalog of genomic variations in the Iranian population |
22 |
| Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification |
21 |
| MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains |
20 |
| ClinVar database of global familial hypercholesterolemia-associated DNA variants |
20 |
| Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants |
19 |
| VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions |
18 |
| Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework |
17 |
| Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel |
17 |
| Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies |
17 |
| Functional characterization of novelNR5A1variants reveals multiple complex roles in disorders of sex development |
14 |
| The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function |
14 |
| Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes |
13 |
| GAA variants and phenotypes among 079 patients with Pompe disease: Data from the Pompe Registry |
12 |
| Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis |
12 |
| Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations |
12 |
| LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-alpha 2 variome and its related phenotypes |
12 |
| Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families |
11 |
| Autosomal recessive primary microcephaly due to ASPM mutations: An update |
11 |
| De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy |
11 |
| Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing |
11 |
| The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations |
11 |
| The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders |
11 |
| EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome |
11 |
| Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene |
11 |
| Extension of the Pompe mutation database by linking disease-associated variants to clinical severity |
11 |
| DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome |
10 |
| A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification |
10 |
| A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families |
10 |
| Characterization of intellectual disability and autism comorbidity through gene panel sequencing |
10 |
| The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria |
10 |
| The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics |
10 |
| A Vietnamese human genetic variation database |
10 |
| DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype |
10 |
| IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy |
9 |
| Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function |
9 |
| Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort |
9 |
| Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorder |
9 |
| Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-beta, hedgehog, and FGF signaling |
9 |
| Mutation update of transcription factor genes FOXE HSF MAF, and PITX3 causing cataracts and other developmental ocular defects |
9 |
| Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females |
9 |
| Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2 |
9 |
| Exploring genetic modifiers of Gaucher disease: The next horizon |
9 |
| De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases |
8 |
| TP63-truncating variants cause isolated premature ovarian insufficiency |
8 |
