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 2021-04-01 to 2025-04-01.)
ArticleCitations
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India181
Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder94
A novel RYR1 variant in an infant with a unique fetal presentation of central core disease42
Hypoxia: A teratogen underlying a range of congenital disruptions, dysplasias, and malformations40
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses33
Incidence and outcome of arrhythmias and electrical disease in patients with Trisomy 1833
A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser‐Winter syndrome31
Uncombable hair syndrome due to maternal uniparental disomy of chromosome 128
27
In This Issue26
Acute myeloid leukemia associated with CHARGE syndrome25
Table of Contents, Volume 194A, Number 6, June 202425
Global health measures from a National Down Syndrome Registry25
Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D‐2‐hydroxyglutaric aciduria: A 22‐year quest25
Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C25
Unraveling the Molecular and Clinical Consequences of an Intragenic TRIP12 Duplication Using Genomic and RNA Analyses22
Massive pericardial effusion in an infant with Aymé–Gripp syndrome: A case report and review of the literature22
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype21
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study20
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