OOIR: Observatory of International Research

Papers

(The H4-Index of American Journal of Medical Genetics Part A is 21. 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.)

Article	Citations
Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus	61
Nosology of genetic skeletal disorders: 2023 revision	52
Limitations of exome sequencing in detecting rare and undiagnosed diseases	49
Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis	46
Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature	38
Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome	34
Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19	33
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome	33
Genotype–phenotype correlation in Phelan‐McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes	33
Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations	32
Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature	28
Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis	28
KBG syndrome: Common and uncommon clinical features based on 31 new patients	26
Natural history of achondroplasia: A retrospective review of longitudinal clinical data	24
Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations	24
Clan genomics: From OMIM phenotypic traits to genes and biology	24
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants	23
DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants	23
Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders	23
Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II	23
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele‐de Vries syndrome)	21