Journal of Medical Genetics

Papers
(The H4-Index of Journal of Medical Genetics is 22. 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 2020-11-01 to 2024-11-01.)
ArticleCitations
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group69
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function48
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency40
Disorders and roles of tsRNA, snoRNA, snRNA and piRNA in cancer39
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study37
Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors35
Enhancing the BOADICEA cancer risk prediction model to incorporate new data onRAD51C,RAD51D,BARD1updates to tumour pathology and cancer incidence34
Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease33
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations32
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease30
Axenfeld-Rieger syndrome: more than meets the eye29
Bi-allelic loss-of-function variants inKIF21Acause severe fetal akinesia with arthrogryposis multiplex29
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease28
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita27
Using chatbots to screen for heritable cancer syndromes in patients undergoing routine colonoscopy26
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping25
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH25
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population25
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality24
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants inCHST14(mcEDS-CHST14)23
Patient-facing digital tools for delivering genetic services: a systematic review22
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice22
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