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 2022-08-01 to 2026-08-01.)

Article	Citations
Next generation of free? Points to consider when navigating sponsored genetic testing	92
Reclassification of candidate splicing variants refines clinically conflicting interpretations in SLC26A4-associated hearing loss	68
Heterozygous deletion of HOXC10-HOXC9 causes lower limb abnormalities in congenital vertical talus	67
Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings	66
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia	59
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum	51
Familial Alzheimer’s disease associated with heterozygous NPC1 mutation	47
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis	45
CDK4 and CDK6 variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosis	40
MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans	38
Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population	37
First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants	36
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	35
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	34
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome	34
Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction	34
Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa	33
Comprehensive genetic landscapes and clinical heterogeneity in nanophthalmos: new insights from a large Chinese cohort	30
Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation	30
Diagnostic inversion in prenatal genomics: counselling, governance and the expanded role of clinical genetics	26
Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service	26
PSMD3 gene mutations cause pathological myopia	25
UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants	24
Histones: coming of age in Mendelian genetic disorders	23