OOIR: Observatory of International Research

Papers

(The H4-Index of Clinical Genetics 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 2022-05-01 to 2026-05-01.)

Article	Citations
	53
Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review	48
Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance	42
A Novel POPDC2 Pathogenic Variant in a Young Patient With Cardiac Conduction Disease and Hypertrophic Cardiomyopathy	36
Novel ABCD1 Variants in X‐Linked Adrenoleukodystrophy	35
Correction to “ SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymp	34
Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome	28
Novel Variants in PTPN11 , NF1	26
Compound Heterozygosity of PTF1A Exonic and Enhancer Variants in a Japanese Boy With Pancreatic Hypoplasia	26
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses	26
Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54 , MO	25
Screening and Functional Analysis of TPO Gene Mutations in Patients With Congenital Hypothyroidism	23
Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome	23
Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing	23
Non‐Canonical Splice Site Variant in FREM1 Result in Fetal Renal Agenesis	22
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil	21
De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype	21
Rare Variants in the P3H1 Gene in Patients With Osteogenesis Imperfecta of Bashkir Origin From Rus	20
A Novel Homozygous Missense ZP1 Variant Result in Human Female Empty Follicle Syndrome	19
French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants	19