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 2021-07-01 to 2025-07-01.)

Article	Citations
Heterozygous deletion ofHOXC10-HOXC9causes lower limb abnormalities in congenital vertical talus	69
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness	55
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	55
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	50
First estimates of diffuse gastric cancer risks for carriers ofCTNNA1germline pathogenic variants	50
Heterozygous pathogenic variants involvingCBFBcause a new skeletal disorder resembling cleidocranial dysplasia	46
OTX2duplications: a recurrent cause of oculo-auriculo-vertebral spectrum	45
Next generation of free? Points to consider when navigating sponsored genetic testing	43
CDH1germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome	39
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis	37
Reclassification of candidate splicing variants refines clinically conflicting interpretations inSLC26A4-associated hearing loss	37
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome	35
Familial Alzheimer’s disease associated with heterozygousNPC1mutation	35
Robust detection of pathogenicHYDINvariants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa	35
UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants	33
Histones: coming of age in Mendelian genetic disorders	32
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma	30
Mutation in mitral valve prolapse susceptible geneDCHS1causes familial mitral annular disjunction	29
PSMD3gene mutations cause pathological myopia	29
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron ofATP7Aas a novel cause of occipital horn syndrome	29
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees	27
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients	26
Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities	26
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants inSMAD4:a nationwide study	25
Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus	25

A 132 bp deletion affecting theKCNQ1OT1gene associated with Silver-Russell syndrome clinical phenotype