American Journal of Medical Genetics Part C-Seminars in Medical Geneti

Papers
(The H4-Index of American Journal of Medical Genetics Part C-Seminars in Medical Geneti 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 2021-09-01 to 2025-09-01.)
ArticleCitations
Bone health in RASopathies74
Clinical trials for genetic diseases in Latin America60
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic51
Obstetrics and gynecology in Ehlers‐Danlos syndrome: A brief review and update40
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease40
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort36
Endocrinological manifestations in RASopathies36
Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome30
Cover Image, Volume 187, Number 4, December 202129
Catatonia responsive to corticosteroids in a patient with an SCN2A variant29
Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics29
A Genomic Analysis of Usher Syndrome: Population‐Scale Prevalence and Therapeutic Targets28
Research Review of Myhre Syndrome28
Down syndrome across the lifespan27
Evolution of Health Care in Turner Syndrome26
Table of Contents, Volume 196, Number 4, December 202425
Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals21
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post‐analytical tools21
Central nervous system involvement in individuals withRASopathies21
Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation20
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