OOIR: Observatory of International Research

Papers

(The H4-Index of Clinical Genetics is 20. 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 2022-08-01 to 2026-08-01.)

Article	Citations
	58
Correction to “ SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymp	45
A Novel Homozygous Missense ZP1 Variant Result in Human Female Empty Follicle Syndrome	37
Rare Variants in the P3H1 Gene in Patients With Osteogenesis Imperfecta of Bashkir Origin From Rus	34
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil	32
Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review	31
Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance	30
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses	29
Screening and Functional Analysis of TPO Gene Mutations in Patients With Congenital Hypothyroidism	27
De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype	24
Novel Variants in PTPN11 , NF1	24
Compound Heterozygosity of PTF1A Exonic and Enhancer Variants in a Japanese Boy With Pancreatic Hypoplasia	24
Non‐Canonical Splice Site Variant in FREM1 Result in Fetal Renal Agenesis	23
French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants	22
A Novel POPDC2 Pathogenic Variant in a Young Patient With Cardiac Conduction Disease and Hypertrophic Cardiomyopathy	22
Novel ABCD1 Variants in X‐Linked Adrenoleukodystrophy	21
Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54 , MO	21
Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing	20
Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome	20
A cross‐sectional study on fatigue, anxiety, and symptoms of depression and their relation with medical status in adult patients with M arfan syndrom	20