American Journal of Medical Genetics Part A

Papers
(The H4-Index of American Journal of Medical Genetics Part A is 20. 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 2021-06-01 to 2025-06-01.)
ArticleCitations
Cover Image, Volume 191A, Number 8, August 2023200
Table of Contents, Volume 185A, Number 10, October 2021104
44
Table of Contents, Volume 185A, Number 11, November 202135
Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman‐Diamond Syndrome?34
Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals31
Corrigendum Candidate Gene Locus for PHACE Syndrome. Am J Med Genet A. 2012;158(6):1363–1367. Doi:10.1002/ajmg.a.3534129
Community‐Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022)27
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study27
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype27
Study Strengthens Link between Autism Spectrum Disorder and Gut Microbiome26
In Memoriam: Vazken M. Der Kaloustian26
A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression26
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry22
Phenotypic variability in RERE‐related disorders and the first report of an inherited variant22
Co‐occurring anomalies in congenital oral clefts22
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing22
Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies22
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome21
The recurrent p.(Pro540Ser) MEN1 genetic variant should be considered nonpathogenic: A case report20
ECHS1 deficiency and its biochemical and clinical phenotype20
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