OOIR: Observatory of International Research

Papers

(The H4-Index of Journal of Medical Genetics is 24. 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 2022-05-01 to 2026-05-01.)

Article	Citations
Next generation of free? Points to consider when navigating sponsored genetic testing	85
Reclassification of candidate splicing variants refines clinically conflicting interpretations in SLC26A4-associated hearing loss	66
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness	62
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	58
Heterozygous deletion of HOXC10-HOXC9 causes lower limb abnormalities in congenital vertical talus	57
Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population	56
CDK4 and CDK6 variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosis	49
Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings	46
First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants	41
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis	39
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia	37
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum	35
Familial Alzheimer’s disease associated with heterozygous NPC1 mutation	33
MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans	33
Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE st	32
Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa	32
Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction	32
Histones: coming of age in Mendelian genetic disorders	31
Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation	29
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome	28
PSMD3 gene mutations cause pathological myopia	27
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome	27
UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants	24
Comprehensive genetic landscapes and clinical heterogeneity in nanophthalmos: new insights from a large Chinese cohort	24