Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.
《医学遗传学杂志》是一本国际领先的同行评审期刊，内容涵盖人类遗传学的原创研究，包括对最新进展的评论和意见。文章涵盖了人类疾病的分子基础，包括生殖系癌症遗传学、遗传疾病的临床表现、分子遗传学在医疗实践中的应用以及全球范围内此类应用的系统评价。
Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105698
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105691
Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106268
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105714
Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC)
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105361
Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106344
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105793
Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106031
Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106072
Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106277
Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106132
Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105635
Impact of DNA source on genetic variant detection from human whole-genome sequencing data
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106281
Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY)
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106407
Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105918
RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106024
Gene editing prospects for treating inherited retinal diseases
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106473
Familial bilateral cryptorchidism is caused by recessive variants in RXFP2
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106203
Reasons for and time to retraction of genetics articles published between 1970 and 2018
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106137
Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105792
Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD)
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106078
Genome-wide association study identifies seven novel loci associating with circulating cytokines and cell adhesion molecules in Finns
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105965
Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106108
Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106339
Increasing knowledge in IGF1R defects: lessons from 35 new patients
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106328
Enrichment of damaging missense variants in genes related with axonal guidance signalling in sporadic Meniere’s disease
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106159
One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106189
Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106278
Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105877
New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype–phenotype profiling of SRD5A2 in 190 Chinese patients
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105915
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106273
Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105821
Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105920
Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106080
‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106131
Genetic diagnosis of subfertility: the impact of meiosis and maternal effects
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105513
Segregation of two variants suggests the presence of autosomal dominant and recessive forms of WFS1-related disease within the same family: expanding the phenotypic spectrum of Wolfram Syndrome
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105782
Parkinson’s disease GWAS-linked Park16 carriers show greater motor progression
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105661
Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human DIAPH1-related cytoskeletopathy
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106282
Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106292
Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105824
Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs)
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105820
Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105669
Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106299
A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106395
Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105639
Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106223
Mutations in gene regulatory elements linked to human limb malformations
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106369
Contribution of spurious transcription to intellectual disability disorders
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2018-105668
JMG in 2019: looking forward, looking back
来源期刊：Journal of Medical GeneticsDOI：10.1136/jmedgenet-2019-106308
