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 2021-09-01 to 2025-09-01.)

Article	Citations
	64
Late‐onset hearing loss case associated with a heterozygous truncating variant of DIAPH1	35
Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1	34
Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review	30
Correction to “SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology”	30
De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype	30
A Novel Homozygous Missense ZP1 Variant Result in Human Female Empty Follicle Syndrome	26
Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions	26
Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome	25
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses	23
Non‐Canonical Splice Site Variant in FREM1 Result in Fetal Renal Agenesis	23
Screening and Functional Analysis of TPO Gene Mutations in Patients With Congenital Hypothyroidism	21
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil	21
Novel ABCD1 Variants in X‐Linked Adrenoleukodystrophy	19
Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing	19
Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome	19
French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants	18
Rare Variants in the P3H1 Gene in Patients With Osteogenesis Imperfecta of Bashkir Origin From Russia	18