Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer [0.03%]
BRCA1/2基因靶向测序筛查发现导致乳腺癌/卵巢癌患者pseudoexon激活的首个胚系BRCA1变异
Gemma Montalban,Sandra Bonache,Alejandro Moles-Fernández et al.
Gemma Montalban et al.
Background: Genetic analysis of BRCA1 and BRCA2 for the diagnosis of hereditary breast and ovarian cancer (HBOC) is commonly restricted to coding regions and exon-intron boundaries. Although germline pathogenic variants i...
Correction: Tumour risks and genotype-phenotype correlations associated with germline variants in the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD [0.03%]
关于SDH基因 germline变异相关肿瘤风险和基因型表型修正研究
Published Erratum
Journal of medical genetics. 2019 Jan;56(1):50-52. DOI:10.1136/jmedgenet-2017-105127corr1 2019
SEC31A mutation affects ER homeostasis, causing a neurological syndrome [0.03%]
SEC31A基因突变影响内质网稳态引起神经病综合征
Daniel Halperin,Rotem Kadir,Yonatan Perez et al.
Daniel Halperin et al.
Background: Consanguineous kindred presented with an autosomal recessive syndrome of intrauterine growth retardation, marked developmental delay, spastic quadriplegia with profound contractures, pseudobulbar palsy with re...
An-Liang Xia,Yong Xu,Xiao-Jie Lu
An-Liang Xia
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG [0.03%]
从整体到基因：PMM2-CDG早期预测性畸形特征
Antonio Martinez-Monseny,Daniel Cuadras,Mercè Bolasell et al.
Antonio Martinez-Monseny et al.
Introduction: Phosphomannomutase-2 deficiency (PMM2-CDG) is associated with a recognisable facial pattern. There are no early severity predictors for this disorder and no phenotype-genotype correlation. We performed a det...
Practice evaluation of biobank ethics and governance: current needs and future perspectives [0.03%]
生物银行伦理与治理实践评估：现状需求及未来展望
Holger Langhof,Johannes Schwietering,Daniel Strech
Holger Langhof
Background: Biobank research faces many ethical challenges. Ethics research aims to develop standards for governance to meet these challenges by elaborating overarching normative principles of medical ethics in the contex...
Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella [0.03%]
CFAP69的新突变导致严重弱畸精症伴有精子鞭毛多种形态异常
Xiaojin He,Weiyu Li,Huan Wu et al.
Xiaojin He et al.
Background: Male infertility is a major issue of human reproduction health. Asthenoteratospermia can impair sperm motility and cause male infertility. Asthenoteratospermia with multiple morphological abnormalities of the ...
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations [0.03%]
MME基因突变的遗传性周围神经病患者的表型及遗传方式特征分析
Vincenzo Lupo,Marina Frasquet,Ana Sánchez-Monteagudo et al.
Vincenzo Lupo et al.
Background: Mutations in the metalloendopeptidase (MME) gene were initially identified as a cause of autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2). Subsequently, variants in MME were linked to other late-o...
Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort [0.03%]
BRCA1和BRCA2多因素不确定意义变异的再分类：一项基于多中心前瞻性队列的研究
Jee-Soo Lee,Sohee Oh,Sue Kyung Park et al.
Jee-Soo Lee et al.
Background: BRCA1 and BRCA2 (BRCA1/2) variants classified ambiguously as variants of uncertain significance (VUS) are a major challenge for clinical genetic testing in breast cancer; their relevance to the cancer risk is ...
Multicenter Study
Journal of medical genetics. 2018 Dec;55(12):794-802. DOI:10.1136/jmedgenet-2018-105565 2018
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy [0.03%]
错构型Mismatch修复缺陷症与I型神经纤维瘤病的鉴别诊断：无肿瘤儿童的检测共识指导建议
Manon Suerink,Tim Ripperger,Ludwine Messiaen et al.
Manon Suerink et al.
Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer predisposition syndrome caused by biallelic germline mutations in one of four mismatch-repair genes. Besides very high tumour risks, CMMRD phenotypes are often cha...