OOIR: Observatory of International Research

Papers

(The H4-Index of Journal of Medical Genetics is 25. 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 2021-09-01 to 2025-09-01.)

Article	Citations
Heterozygous deletion ofHOXC10-HOXC9causes lower limb abnormalities in congenital vertical talus	72
Heterozygous pathogenic variants involvingCBFBcause a new skeletal disorder resembling cleidocranial dysplasia	61
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness	61
Next generation of free? Points to consider when navigating sponsored genetic testing	52
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis	50
CDH1germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome	50
Reclassification of candidate splicing variants refines clinically conflicting interpretations in SLC26A4-associated hearing loss	49
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	46
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	44
First estimates of diffuse gastric cancer risks for carriers ofCTNNA1germline pathogenic variants	39
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron ofATP7Aas a novel cause of occipital horn syndrome	37
OTX2duplications: a recurrent cause of oculo-auriculo-vertebral spectrum	37
Robust detection of pathogenicHYDINvariants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa	37
Familial Alzheimer’s disease associated with heterozygousNPC1mutation	37
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome	37
PSMD3gene mutations cause pathological myopia	32
Histones: coming of age in Mendelian genetic disorders	32
Mutation in mitral valve prolapse susceptible geneDCHS1causes familial mitral annular disjunction	31
UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants	29
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants inSMAD4:a nationwide study	28
Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus	28
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities	27
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees	27
Heterozygous de novo variants inHSPD1cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation	26
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel	25

GermlineHPF1retrogene insertion inRB1gene involved in cancer predisposition