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 18. 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 2020-03-01 to 2024-03-01.)
ArticleCitations
The epidemiology of sex chromosome abnormalities55
Genetic admixture in Brazil44
Genes that escape from X‐chromosome inactivation: Potential contributors to Klinefelter syndrome39
Molecular diagnostic challenges for non‐retinal developmental eye disorders in the United Kingdom36
Genotype–phenotype correlates in Joubert syndrome: A review34
An online compendium of treatable genetic disorders29
Gonadal dysfunction and beyond: Clinical challenges in children, adolescents, and adults with 47,XXY Klinefelter syndrome22
Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network21
Pain in the Ehlers–Danlos syndromes: Mechanisms, models, and challenges21
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases21
Patients with Ehlers–Danlos syndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey21
Leveraging population‐based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project21
Experiences from the epicenter: Professional impact of the COVID‐19 pandemic on genetic counselors in New York20
Democratizing genomics: Leveraging software to make genetics an integral part of routine care20
Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospectiveeXtraordinarYbabies study to identify early risk factors and targets fo19
Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child18
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients18
Metabolic and cardiovascular risk factors in Klinefelter syndrome18
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