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

Article	Citations
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis	79
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	69
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia	59
Next generation of free? Points to consider when navigating sponsored genetic testing	58
Familial Alzheimer’s disease associated with heterozygous NPC1 mutation	55
Reclassification of candidate splicing variants refines clinically conflicting interpretations in SLC26A4-associated hearing loss	51
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness	48
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum	45
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	41
First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants	40
Heterozygous deletion of HOXC10-HOXC9 causes lower limb abnormalities in congenital vertical talus	38
Histones: coming of age in Mendelian genetic disorders	37
Comprehensive genetic landscapes and clinical heterogeneity in nanophthalmos: new insights from a large Chinese cohort	34
Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation	33
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome	29
PSMD3 gene mutations cause pathological myopia	29
UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants	28
Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction	28
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome	28
Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa	27
Economic evaluation of personalised versus conventional risk assessment for women who have undergone testing for hereditary breast and ovarian cancer genes: a modelling study	26
Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation	26
Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort	25
Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition	25