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 2021-08-01 to 2025-08-01.)
ArticleCitations
Cover Image, Volume 191A, Number 8, August 2023219
Table of Contents, Volume 185A, Number 10, October 202145
Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman‐Diamond Syndrome?35
Table of Contents, Volume 185A, Number 11, November 202135
Corrigendum Candidate Gene Locus for PHACE Syndrome. Am J Med Genet A. 2012;158(6):1363–1367. Doi:10.1002/ajmg.a.3534133
SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum31
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene28
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome28
Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies27
Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS527
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry26
A patient with compound heterozygosity of SMPD4: Another example of utility of exome‐based copy number analysis in autosomal recessive disorders24
Current state of the art in treatment of Mendelian disease: Skeletal dysplasias23
Whole exome sequencing studies in epilepsy: A deep analysis of the published literature23
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?22
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D22
An exploratory study of plasma ceramides in comorbidities in Down syndrome21
Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada20
Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21‐year‐old female with an intronic mutation in the elastin gene19
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome19
Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes19
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