New tools and approaches to newborn screening: ready to open Pandora's box? [0.03%]
新生儿筛查的新工具和新方法：准备好打开潘多拉魔盒了吗？
Can Ficicioglu
Can Ficicioglu
The landscape of newborn screening (NBS) is changing as new tools are developed. We must acknowledge that NBS is a very important and extraordinarily positive initiative especially for rare and serious inherited disorders; however, lessons ...
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases [0.03%]
EBF3的新发变异可能导致DNA结合障碍并引发神经发育障碍及表型扩展：病例报告、计算机辅助功能评估和已发表案例回顾
Patrick R Blackburn,Sarah S Barnett,Michael T Zimmermann et al.
Patrick R Blackburn et al.
Pathogenic variants in EBF3 were recently described in three back-to-back publications in association with a novel neurodevelopmental disorder characterized by intellectual disability, speech delay, ataxia, and facial dysmorphisms. In this ...
Diffuse large B-cell lymphoma: can genomics improve treatment options for a curable cancer? [0.03%]
套细胞淋巴瘤：基因组学能改善可治愈性肿瘤的治疗选择吗？
Amit Dipak Amin,Tara L Peters,Lingxiao Li et al.
Amit Dipak Amin et al.
Gene-expression profiling and next-generation sequencing have defined diffuse large B-cell lymphoma (DLBCL), the most common lymphoma diagnosis, as a heterogeneous group of subentities. Despite ongoing explosions of data illuminating dispar...
Genetic and epigenetic profiling of a solitary Peutz-Jeghers colon polyp [0.03%]
佩茨-杰格斯综合征患者孤立性结肠多发息肉的基因和表观遗传学谱分析
Heinz Linhart,Felix Bormann,Barbara Hutter et al.
Heinz Linhart et al.
Colon polyps represent precursor lesions of colon cancers and their malignant potential varies according to histological subtype. A rare subtype of colon polyps is the Peutz-Jeghers (PJ) polyp. PJ polyps mostly occur in the context of Peutz...
Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma [0.03%]
在USP8突变的促肾上腺皮质激素细胞腺瘤中鉴定出一种新型RASD1体细胞性突变
Andrew V Uzilov,Khadeen C Cheesman,Marc Y Fink et al.
Andrew V Uzilov et al.
Cushing's disease (CD) is caused by pituitary corticotroph adenomas that secrete excess adrenocorticotropic hormone (ACTH). In these tumors, somatic mutations in the gene USP8 have been identified as recurrent and pathogenic and are the sol...
Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer [0.03%]
全基因组测序鉴定出BRCA2同源缺失指导去分化前列腺癌治疗
Karin Purshouse,Anna Schuh,Benjamin P Fairfax et al.
Karin Purshouse et al.
Whole-genome sequencing (WGS) has transformed the understanding of the genetic drivers of cancer and is increasingly being used in cancer medicine to identify personalized therapies. Here we describe a case in which the application of WGS i...
When " N of 2" is not enough: integrating statistical and functional data in gene discovery [0.03%]
当"N小於2"时不够：在基因发现中整合统计和功能数据
Christopher A Cassa,Sebastian Akle,Daniel M Jordan et al.
Christopher A Cassa et al.
The expanding use of genomic sequencing promises to improve clinical diagnostics and to drive the discovery of new disease genes. Candidate genes are increasingly being identified through recurrent cases (e.g., two or more independent cases...
AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant [0.03%]
婴儿AIFM1基因突变导致的致命性脑肌病和线粒体疾病病例报告
Sarah U Morton,Sanjay P Prabhu,Hart G W Lidov et al.
Sarah U Morton et al.
Apoptosis-inducing factor mitochondrion-associated 1 (AIFM1), encoded by the gene AIFM1, has roles in electron transport, apoptosis, ferredoxin metabolism, reactive oxygen species generation, and immune system regulation. Here we describe a...
A novel, potentially targetable TMEM106B-BRAF fusion in pleomorphic xanthoastrocytoma [0.03%]
弥漫性黄色星形细胞瘤中一种新颖的、潜在可靶向的TMEM106B-BRAF融合基因
Susan J Hsiao,Matthias A Karajannis,Daniel Diolaiti et al.
Susan J Hsiao et al.
Pleomorphic xanthoastrocytoma (PXA) is a World Health Organization (WHO) Grade II glioma occurring primarily in children and young adults. Most PXAs harbor the known activating mutation BRAF V600E. We report a case of locally recurrent PXA ...
Integrating functional genomics to accelerate mechanistic personalized medicine [0.03%]
整合功能基因组学以加速机制型精准医学的发展
Jeffrey W Tyner
Jeffrey W Tyner
The advent of deep sequencing technologies has resulted in the deciphering of tremendous amounts of genetic information. These data have led to major discoveries, and many anecdotes now exist of individual patients whose clinical outcomes h...