OOIR: Observatory of International Research

Papers

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

Article	Citations
	47
Novel ABCD1 Variants in X‐Linked Adrenoleukodystrophy	34
Correction to “SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology”	34
French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants	34
Non‐Canonical Splice Site Variant in FREM1 Result in Fetal Renal Agenesis	30
Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome	29
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil	27
Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review	27
Rare Variants in the P3H1 Gene in Patients With Osteogenesis Imperfecta of Bashkir Origin From Rus	24
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses	22
Late‐onset hearing loss case associated with a heterozygous truncating variant of DIAPH1	22
De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype	21
Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome	20
Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing	20
A Novel Homozygous Missense ZP1 Variant Result in Human Female Empty Follicle Syndrome	19
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature	18
Screening and Functional Analysis of TPO Gene Mutations in Patients With Congenital Hypothyroidism	18
A cross‐sectional study on fatigue, anxiety, and symptoms of depression and their relation with medical status in adult patients with M arfan syndrom	18
Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54 , MO	18
A Novel POPDC2 Pathogenic Variant in a Young Patient With Cardiac Conduction Disease and Hypertrophic Cardiomyopathy	18