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 2021-09-01 to 2025-09-01.)
ArticleCitations
Cover Image, Volume 191A, Number 8, August 2023229
Table of Contents, Volume 185A, Number 10, October 202145
Table of Contents, Volume 185A, Number 11, November 202137
Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman‐Diamond Syndrome?36
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 spectrum30
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene29
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome29
Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS527
Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies26
A patient with compound heterozygosity of SMPD4: Another example of utility of exome‐based copy number analysis in autosomal recessive disorders26
Current state of the art in treatment of Mendelian disease: Skeletal dysplasias23
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D23
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?20
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
An exploratory study of plasma ceramides in comorbidities in Down syndrome19
Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes19
Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada19
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