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 2020-11-01 to 2024-11-01.)
ArticleCitations
Genetic admixture in Brazil56
Genotype–phenotype correlates in Joubert syndrome: A review43
An online compendium of treatable genetic disorders36
Patients withEhlers–Danlossyndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey27
Pain in the Ehlers–Danlos syndromes: Mechanisms, models, and challenges25
Clinical overview on RASopathies25
Leveraging population‐based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project23
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases23
Dysautonomia in the Ehlers–Danlos syndromes and hypermobility spectrum disorders—With a focus on the postural tachycardia syndrome23
Democratizing genomics: Leveraging software to make genetics an integral part of routine care22
The molecular genetics of RASopathies: An update on novel disease genes and new disorders22
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology22
Experiences from the epicenter: Professional impact of the COVID‐19 pandemic on genetic counselors in New York21
The Latin American network for congenital malformation surveillance: ReLAMC21
Ehlers–Danlos syndromes, hypermobility spectrum disorders, and associated co‐morbidities: Reports from EDS ECHO21
Newborn screening in Latin America: A brief overview of the state of the art20
Updates on the psychological and psychiatric aspects of the Ehlers–Danlos syndromes and hypermobility spectrum disorders20
OFD1: One gene, several disorders19
Transition to virtual clinic: Experience in a multidisciplinary clinic for Down syndrome18
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease18
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