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 2022-06-01 to 2026-06-01.)

Article	Citations
Next generation of free? Points to consider when navigating sponsored genetic testing	88
Reclassification of candidate splicing variants refines clinically conflicting interpretations in SLC26A4-associated hearing loss	68
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness	63
Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings	59
Heterozygous deletion of HOXC10-HOXC9 causes lower limb abnormalities in congenital vertical talus	59
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia	57
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum	50
Familial Alzheimer’s disease associated with heterozygous NPC1 mutation	46
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis	42
First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants	39
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	37
Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population	35
CDK4 and CDK6 variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosis	34
MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans	34
Histones: coming of age in Mendelian genetic disorders	33
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	33
Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction	33
Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation	31
Comprehensive genetic landscapes and clinical heterogeneity in nanophthalmos: new insights from a large Chinese cohort	29
Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service	27
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome	27
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome	25
Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa	25
PSMD3 gene mutations cause pathological myopia	24
UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants	24