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 2021-05-01 to 2025-05-01.)

Article	Citations
	54
Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome	37
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses	33
Late‐onset hearing loss case associated with a heterozygous truncating variant of DIAPH1	30
Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions	30
Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome	26
Correction to “SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology”	26
Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review	26
Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1	26
Novel ABCD1 Variants in X‐Linked Adrenoleukodystrophy	25
De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype	25
Screening and Functional Analysis of TPO Gene Mutations in Patients With Congenital Hypothyroidism	24
Diagnostic yield of genetic testing in 324 infants with hypotonia	23
A Novel Homozygous Missense ZP1 Variant Result in Human Female Empty Follicle Syndrome	23
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil	22
Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing	22
Feasibility of whole‐exome sequencing in fine‐needle aspiration specimens of papillary thyroid microcarcinoma for the identification of novel gene mutations	20
Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6	19
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature	19