OOIR: Observatory of International Research

Papers

(The H4-Index of Journal of Medical Genetics is 23. 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 2021-05-01 to 2025-05-01.)

Article	Citations
Heterozygous deletion ofHOXC10-HOXC9causes lower limb abnormalities in congenital vertical talus	61
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness	53
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	52
Heterozygous pathogenic variants involvingCBFBcause a new skeletal disorder resembling cleidocranial dysplasia	49
OTX2duplications: a recurrent cause of oculo-auriculo-vertebral spectrum	47
Next generation of free? Points to consider when navigating sponsored genetic testing	43
First estimates of diffuse gastric cancer risks for carriers ofCTNNA1germline pathogenic variants	41
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	36
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	35
Familial Alzheimer’s disease associated with heterozygousNPC1mutation	35
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population	34
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome	32
Mutation in mitral valve prolapse susceptible geneDCHS1causes familial mitral annular disjunction	30
Robust detection of pathogenicHYDINvariants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa	28
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma	28
Histones: coming of age in Mendelian genetic disorders	27
PSMD3gene mutations cause pathological myopia	27
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron ofATP7Aas a novel cause of occipital horn syndrome	26
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients	25
Economic evaluation of personalised versus conventional risk assessment for women who have undergone testing for hereditary breast and ovarian cancer genes: a modelling study	25
Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities	25
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients	24
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants inSMAD4:a nationwide study	23
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees	23