Erin Wadman,Erica Fernandes,Candace Muss et al.
Erin Wadman et al.
A novel syndrome was suspected in individuals sharing short stature, microcephaly, distinctive facial features, and congenital anomalies. We enrolled 6 patients in an institutional review board approved study and evaluated medical history, ...
Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism [0.03%]
两种临床重要变异导致体细胞嵌合体疾病的共存现象
Yang Cao,Michael J Evenson,Meagan M Corliss et al.
Yang Cao et al.
Purpose: Disorders of somatic mosaicism (DoSM) are a heterogeneous group of conditions caused by postzygotic variants in genes within the PI3K/AKT/mTOR and RAS/MAPK signaling pathway. The co-existence of 2 activating vari...
Customizing the electronic health record for delivery of pharmacogenetics [0.03%]
定制电子健康记录以提供药物基因组学服务
Glenda Hoffecker,Lisa A Varughese,Joseph Bleznuck et al.
Glenda Hoffecker et al.
Carrier screening program for BRCA1/BRCA2 pathogenic variants among Ashkenazi Jewish women in Israel: An observational study [0.03%]
以色列阿什肯纳兹犹太女性BRCA1/BRCA2致病突变携带者筛查项目：一项观察性研究
Rotem Greenberg,Efrat Aharonov-Majar,Ofer Isakov et al.
Rotem Greenberg et al.
Purpose: The aim of the study was to evaluate the results of a large-scale BRCA1/2 carrier screening program among Ashkenazi Jewish (AJ) women. Methods: ...
Evolution of virtual gene panels over time and implications for genomic data re-analysis [0.03%]
基因虚拟检测 panel 随时间变化的规律及其对重分析的影响
Alan J Robertson,Khoa Tran,Chirag Patel et al.
Alan J Robertson et al.
Purpose: Re-analyzing genomic information from patients without a molecular diagnosis is known to improve diagnostic yields. There are different mechanisms responsible for this increase, but the discovery of new, and refi...
New insights in efficacy of different ERT dosages in Fabry disease: Switch and switch-back studies data following agalsidase beta shortage. Update of systematic review [0.03%]
关于不同的酶替代疗法剂量在法布雷病疗效中的新见解：阿加利赛达酶贝塔短缺后的转换和回转研究数据以及系统性回顾的更新
Eleonora Riccio,Carlo Garofalo,Ivana Capuano et al.
Eleonora Riccio et al.
In 2016, a systematic review and a meta-analysis of existing data on the effects of switch from agalsidase beta to alfa in patients with Fabry disease showed that the switch was well tolerated and associated with stable disease progression....
Vosoritide approved for treatment of linear growth in pediatric patients with achondroplasia: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) [0.03%]
vosoritide治疗软骨发育不良儿科患者线性增长的获批：美国医学遗传学院（ACMG）治疗通讯公告
Sheri A Poskanzer,Loren D M Peña,Zhiyv Niu;ACMG Therapeutics Committee∗documents@acmg.net
Sheri A Poskanzer
Bahareh A Mojarad,Patricia V Hernandez,Michael J Evenson et al.
Bahareh A Mojarad et al.
Purpose: Variants in PIK3CA (encoding p110α; the catalytic subunit of PI3K) characterize some disorders of somatic mosaicism (DoSM) conditions with clinical features, including sporadic overgrowth and vascular malformati...
Omaveloxolone approved for patients aged 16 years and older with Friedreich ataxia (FRDA): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) [0.03%]
用于治疗16岁及以上弗里德reich共济失调患者的 Omaveloxolone：美国医学遗传学与基因组学学院（ACMG）的药物通报
Arthur Lenahan,Sho Yano,Brett Graham et al.
Arthur Lenahan et al.
Nicholas A Borja,Samantha A Schrier Vergano,Mustafa Tekin
Nicholas A Borja
Coffin-Siris syndrome (CSS) is a rare neurodevelopmental disorder that is associated with multiple congenital anomalies and caused by de novo monoallelic germline pathogenic variants in BAF-complex genes. Despite their function as tumor sup...