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 2020-04-01 to 2024-04-01.)

Article	Citations
Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis	60
Assessing performance of pathogenicity predictors using clinically relevant variant datasets	55
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group	55
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics	44
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis	43
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)	38
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function	37
Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors	32
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency	30
Polygenic and multifactorial scores for pancreatic ductal adenocarcinoma risk prediction	28
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features	28
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study	28
‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects	28
Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease	26
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations	26
Population-based targeted sequencing of 54 candidate genes identifiesPALB2as a susceptibility gene for high-grade serous ovarian cancer	26
Prevalence ofBRCA1/BRCA2pathogenic variation in Chinese Han population	26
Enhancing the BOADICEA cancer risk prediction model to incorporate new data onRAD51C,RAD51D,BARD1updates to tumour pathology and cancer incidence	24
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita	24
Bi-allelic loss-of-function variants inKIF21Acause severe fetal akinesia with arthrogryposis multiplex	24
Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations	24
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH	23
Axenfeld-Rieger syndrome: more than meets the eye	23
Disorders and roles of tsRNA, snoRNA, snRNA and piRNA in cancer	23