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 2021-10-01 to 2025-10-01.)

Article	Citations
Heterozygous deletion ofHOXC10-HOXC9causes lower limb abnormalities in congenital vertical talus	77
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness	67
Reclassification of candidate splicing variants refines clinically conflicting interpretations in SLC26A4-associated hearing loss	62
OTX2duplications: a recurrent cause of oculo-auriculo-vertebral spectrum	56
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	54
Next generation of free? Points to consider when navigating sponsored genetic testing	51
Heterozygous pathogenic variants involvingCBFBcause a new skeletal disorder resembling cleidocranial dysplasia	51
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	47
CDH1germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome	47
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis	42
Familial Alzheimer’s disease associated with heterozygousNPC1mutation	40
First estimates of diffuse gastric cancer risks for carriers ofCTNNA1germline pathogenic variants	39
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome	37
Robust detection of pathogenicHYDINvariants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa	37
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron ofATP7Aas a novel cause of occipital horn syndrome	36
Mutation in mitral valve prolapse susceptible geneDCHS1causes familial mitral annular disjunction	34
Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation	32
UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants	32
Comprehensive genetic landscapes and clinical heterogeneity in nanophthalmos: new insights from a large Chinese cohort	30
PSMD3gene mutations cause pathological myopia	28
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees	27
Histones: coming of age in Mendelian genetic disorders	27
A 132 bp deletion affecting theKCNQ1OT1gene associated with Silver-Russell syndrome clinical phenotype	26
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants inSMAD4:a nationwide study	25
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities	24

Heterozygous de novo variants inHSPD1cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation	24
Economic evaluation of personalised versus conventional risk assessment for women who have undergone testing for hereditary breast and ovarian cancer genes: a modelling study	24