American Journal of Medical Genetics Part A

Papers
(The H4-Index of American Journal of Medical Genetics Part A is 19. 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 2020-11-01 to 2024-11-01.)
ArticleCitations
Nosology of genetic skeletal disorders: 2023 revision110
Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus82
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome39
Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations36
Genotype–phenotype correlation in Phelan‐McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes33
Clan genomics: From OMIM phenotypic traits to genes and biology28
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants27
Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review27
Sleep problems in fragile X syndrome: Cross‐sectional analysis of a large clinic‐based cohort26
Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders25
Variable clinical severity in TANGO2 deficiency: Case series and literature review24
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics24
Surveillance guidelines for children with trisomy 1823
The point‐of‐care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning22
Unexplained regression in Down syndrome: Management of 51 patients in an international patient database22
Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2 circadian rhythm gene20
Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information20
Physical therapy treatment of hypermobile Ehlers–Danlos syndrome: A systematic review20
Clinical spectrum in multiple families with primary COQ10 deficiency19
Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy19
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