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 2021-06-01 to 2025-06-01.)

Article	Citations
	56
Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome	36
Late‐onset hearing loss case associated with a heterozygous truncating variant of DIAPH1	33
Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1	31
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	29
Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review	29
Novel ABCD1 Variants in X‐Linked Adrenoleukodystrophy	28
A Novel Homozygous Missense ZP1 Variant Result in Human Female Empty Follicle Syndrome	27
Screening and Functional Analysis of TPO Gene Mutations in Patients With Congenital Hypothyroidism	27
Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing	25
Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome	23
Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions	23
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses	22
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil	20
Diagnostic yield of genetic testing in 324 infants with hypotonia	20
Feasibility of whole‐exome sequencing in fine‐needle aspiration specimens of papillary thyroid microcarcinoma for the identification of novel gene mutations	19
Issue Information	19
Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis	18
Genome‐wide association study of cardiometabolic multimorbidity in the UK Biobank	18
Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model	18
Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry	18
Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity	18