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 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 2021-06-01 to 2025-06-01.)
ArticleCitations
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic67
Bone health in RASopathies52
Clinical trials for genetic diseases in Latin America45
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease38
Catatonia responsive to corticosteroids in a patient with an SCN2A variant35
Obstetrics and gynecology in Ehlers‐Danlos syndrome: A brief review and update32
Endocrinological manifestations in RASopathies29
Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics29
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort28
Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome27
Cover Image, Volume 187, Number 4, December 202126
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients26
Down syndrome across the lifespan24
Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation24
A Genomic Analysis of Usher Syndrome: Population‐Scale Prevalence and Therapeutic Targets24
Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals22
Table of Contents, Volume 196, Number 4, December 202421
Central nervous system involvement in individuals withRASopathies20
Evolution of Health Care in Turner Syndrome20
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post‐analytical tools19
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