Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma [0.03%]
复发性先天性纤维肉瘤中新型融合基因EML4-NTRK3的鉴定
Sarah Tannenbaum-Dvir,Julia L Glade Bender,Alanna J Church et al.
Sarah Tannenbaum-Dvir et al.
We describe the clinical course of a recurrent case of congenital fibrosarcoma diagnosed in a 9-mo-old boy with a history of hemimelia. Following complete surgical resection of the primary tumor, the patient subsequently presented with bulk...
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly [0.03%]
POGZ新突变与神经发育障碍和小头畸形相关
Yizhou Ye,Megan T Cho,Kyle Retterer et al.
Yizhou Ye et al.
Seven patients with similar phenotypes of developmental delay and microcephaly were found by whole-exome sequencing to have de novo loss-of-function mutations in POGZ. POGZ is a pogo transposable element-derived protein with a zinc finger c...
Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline [0.03%]
自闭症患者全基因组变异分析及其临床生物信息综合分析管道研究
Laura T Jiménez-Barrón,Jason A O&#x;Rawe,Yiyang Wu et al.
Laura T Jiménez-Barrón et al.
Autism spectrum disorders (ASDs) are a group of developmental disabilities that affect social interaction and communication and are characterized by repetitive behaviors. There is now a large body of evidence that suggests a complex role of...
Democratization of genetic data: connecting government approval of clinical tests with data sharing [0.03%]
基因数据民主化：连接临床检测的政府批准与数据共享
Theodora S Ross
Theodora S Ross
When a doctor orders a genetic test, patients assume that the test will yield a useful result to guide how their physicians take care of them. That assumption is frequently correct, but not always. Until recently, a genetic test only interr...
Whole-genome sequencing of a malignant granular cell tumor with metabolic response to pazopanib [0.03%]
帕唑帕尼代谢反应的恶性颗粒细胞瘤全基因组测序
Lei Wei,Song Liu,Jeffrey Conroy et al.
Lei Wei et al.
Granular cell tumors are an uncommon soft tissue neoplasm. Malignant granular cell tumors comprise T transitions, particularly when immediately preceded by a 5' G. A loss-of-function mutation was detected in a newly recognized tumor suppres...
Peter N Robinson,Christopher J Mungall,Melissa Haendel
Peter N Robinson
Deep phenotyping followed by integrated computational analysis of genotype and phenotype is becoming ever more important for many areas of genomic diagnostics and translational research. The overwhelming majority of clinical descriptions in...
De novo mutations in PURA are associated with hypotonia and developmental delay [0.03%]
PURA新发突变与肌张力低下和发育迟缓相关
Akemi J Tanaka,Renkui Bai,Megan T Cho et al.
Akemi J Tanaka et al.
PURA is the leading candidate gene responsible for the developmental phenotype in the 5q31.3 microdeletion syndrome. De novo mutations in PURA were recently reported in 15 individuals with developmental features similar to the 5q31.3 microd...
A case of me: clinical cancer sequencing and the future of precision medicine [0.03%]
个体基因组测序指导的癌症精准医疗实践与思考——来自Baylor College of Medicine的10例病例报告及未来展望
Lukas D Wartman
Lukas D Wartman
In this invited Perspective, I detail how my own experience as a patient with acute lymphoblastic leukemia (ALL) exemplifies several key concepts central to the implementation of cancer sequencing and precision medicine into clinical practi...
Myeloid neoplasm demonstrating a STAT5B-RARA rearrangement and genetic alterations associated with all-trans retinoic acid resistance identified by a custom next-generation sequencing assay [0.03%]
通过自定义下一代测序检测到的STAT5B-RARA易位和与全反式维甲酸耐药相关遗传改变的骨髓肿瘤
Michael J Kluk,Ryan P Abo,Ronald D Brown et al.
Michael J Kluk et al.
We describe the case of a patient presenting with several weeks of symptoms related to pancytopenia associated with a maturation arrest at the late promyelocyte/early myelocyte stage of granulocyte differentiation. A diagnosis of acute prom...
Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing [0.03%]
利用外显子组测序诊断的一种进行性神经病患儿的大剂量核黄素长期治疗效果研究
Vandana Shashi,Slavé Petrovski,Kelly Schoch et al.
Vandana Shashi et al.
One of the most promising outcomes of whole-exome sequencing (WES) is the alteration of medical management following an accurate diagnosis in patients with previously unresolved disorders. Although case reports of targeted therapies resulti...