Exploration of possible association of BRIP1 pathogenic variants with central nervous system cancers in an institutional cohort [0.03%]
BRIP1致病性变异与中枢神经系统肿瘤相关性的机构队列研究探索
Jacqueline Cappadocia,Kara N Maxwell,Katherine L Nathanson et al.
Jacqueline Cappadocia et al.
BRIP1 (OMIM: 605882), associated with hereditary ovarian cancer, has recently been described in association with central nervous system (CNS) tumours. Institutional germline database review identified 43 families with BRIP1 pathogenic germl...
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification [0.03%]
兼具常染色体显性遗传和隐性遗传的基因的特点：机制、表型及候选者识别
Shlomit Ezer,Tal Sido,Jonathan Rips et al.
Shlomit Ezer et al.
Background: Autosomal dominant (AD) inheritance often arises through haploinsufficiency, dominant-negative or gain of function (GoF) effects, while autosomal recessive (AR) inheritance generally results from partial or co...
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants [0.03%]
NF1点突变型神经纤维瘤病Ⅰ型患者的精确诊断基因型-表型相关性研究
Laurence Pacot,Marinus Blok,Dominique Vidaud et al.
Laurence Pacot et al.
Background: Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders. NF1 is caused by dominant loss-of-function pathogenic variants (PVs) of the tumour-suppressor gene NF1, which encodes neurofibromin...
Proposed framework for triage of putative germline variants detected via tumour genomic testing in UK oncology practice [0.03%]
在英国肿瘤学实践中通过肿瘤基因组检测发现的疑似生殖系变异的分类框架（草案）
Terri Patricia McVeigh,Helen Hanson,George J Burghel et al.
Terri Patricia McVeigh et al.
In the UK, most patients receive publicly funded medical care through the National Health Service (NHS), which funds tumour and/or germline testing for eligible patients with cancer to inform clinical management.Testing on tumour-derived DN...
Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration [0.03%]
C19orf44功能丧失型变异可导致视网膜退行性病变
Hafiz Muhammad Jafar Hussain,Wang Meng,Yumei Li et al.
Hafiz Muhammad Jafar Hussain et al.
Background: Inherited retinal diseases (IRDs) are a group of disorders often resulting in progressive vision loss, ultimately leading to blindness. A significant portion of their genetic causes remain unresolved, partly d...
Congenital heart disease in 22q11.2 deletion syndrome: a meta-analysis and systematic review of the literature [0.03%]
22q11.2缺失综合征先天性心脏病的meta分析和文献系统回顾
Carina Sauter,Michael Hofbeck,Paula Franz et al.
Carina Sauter et al.
The 22q11.2 deletion syndrome (22q11.2DS) results from a heterozygous deletion at chromosomal locus 22q11.2 and is associated with multisystem symptoms, including cardiovascular, psychiatric and palatal manifestations. Although congenital c...
Accurate detection of D4Z4 repeats, methylation and allele haplotype in facioscapulohumeral muscular dystrophy 1 using nanopore long-read adaptive sampling sequencing: a pilot study [0.03%]
使用纳米孔长读段自适应采样测序准确检测面肩肱型肌营养不良症1中的D4Z4重复序列、甲基化和等位基因单体型：一项初步研究
Mingtao Huang,Qinxin Zhang,Sihui Wu et al.
Mingtao Huang et al.
Background: Facioscapulohumeral muscular dystrophy 1 (FSHD1) is one of the most common autosomal dominant neuromuscular diseases. Genetic diagnosis of FSHD1 remains a challenge because of the long length and repetitive na...
'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors [0.03%]
“知彼康综合征/彭蒂宁综合征诊疗国际协作组”：随访、自然病史及酪氨酸激酶抑制剂真实世界安全性疗效观察研究建议
Yordi-Michaël Bouhatous,Cecilie Bredrup,Agnes Maurer et al.
Yordi-Michaël Bouhatous et al.
Background: 5 years have passed since the formation of the multidisciplinary consortium 'Knowing & Treating Kosaki and Penttinen Syndromes', two ultra-rare degenerative multisystem syndromes caused by heterozygous activat...
AUTS2 disruption underlies radioulnar synostosis and skeletal dysmorphogenesis: evidence from four unrelated cases [0.03%]
AUTS2缺失导致桡尺融合和骨骼畸形：来自4个无关家系的证据
Cheng Liu,Fang Shen,Mei Deng et al.
Cheng Liu et al.
Background: While AUTS2 is recognised as a pivotal neurodevelopmental gene, its role in skeletal morphogenesis has remained unexplored. We investigated the contribution of AUTS2 to radioulnar synostosis (RUS) and associat...
Commentary on UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression [0.03%]
UBTF单倍体不足与非进行性UBTF相关整体发育迟缓和面部特异性特征的评论
Tony Yammine,Sandra Mercier,Céline Poirsier et al.
Tony Yammine et al.