New Treatments, Novel Conversations: A Need to Study the Science of Communication about Treatment Options for Inborn Errors of Metabolism [0.03%]
新的治疗方法，新的对话内容：有必要研究关于遗传性代谢错误治疗方案的沟通问题科学性质
Emily Shelkowitz,Samantha A Schrier Vergano,Monica Penon-Portmann et al.
Emily Shelkowitz et al.
Over the past thirty years, therapeutic options for rare diseases, and particularly, inborn errors of metabolism (IEMs), have expanded tremendously, markedly improving the lives of patients and families, and invigorating clinicians, researc...
Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertension [0.03%]
VCP基因突变导致Adams-Oliver综合征并伴有或不伴有肺动脉高压
Anna Lehman,Sana Ahmed,Arezoo Mohajeri et al.
Anna Lehman et al.
Purpose: Adams-Oliver syndrome (AOS) is a genetically heterogeneous disorder with cardinal features of aplasia cutis congenita and terminal limb reduction defects. A minority of individuals with AOS develop potentially le...
Correspondence on "COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management" by Tambala et al [0.03%]
Tambala等关于“ COL4A1和COL4A2相关性疾病：临床特征、诊断指南和管理”的来信回复
Ciara McCormick,John Snelgrove
Ciara McCormick
Response to Amalia [0.03%]
对阿马莉亚的回应
Elisabeth Stögmann,Theresa König
Elisabeth Stögmann
Employing bioinformatic tools to identify high-risk variants of uncertain significance in aortopathy genes that increase aortic dissection risk [0.03%]
运用生物信息学工具识别主动脉病基因中的高风险变异意义未知的变异以增加主动脉夹层的风险
John DePaolo,Dong-Chuan Guo,David R Murdock et al.
John DePaolo et al.
Purpose: Variants of uncertain significance (VUS) represent are clinical challenging. We hypothesize that bioinformatic tools can identify VUS that are "high-risk". ...
Biallelic variants in FAT3 cause axonal neuropathy with multisystem neurodevelopmental features [0.03%]
FAT3双等位基因变异导致轴索神经病并多系统神经发育障碍
Yujiro Higuchi,Kaichi Yoshizaki,Kazuki Nakanishi et al.
Yujiro Higuchi et al.
Purpose: Despite advances in diagnostics, many inherited peripheral neuropathies remain genetically unexplained. We investigated whether biallelic variants in FAT3 (FAT Atypical Cadherin 3) are implicated in inherited axo...
Cancer risk in adults with pathogenic germline variants in RAS/MAPK genes using genomic ascertainment [0.03%]
基于基因组筛查的RAS/MAPK基因致病变异携带者的成人癌症风险
Jung Kim,Gina Ney,Megan N Frone et al.
Jung Kim et al.
Purpose: Genomic ascertainment of electronic health record-linked exome data was used to quantify germline pathogenic/likely pathogenic (P/LP) variant prevalence, cancer prevalence, and survival in adults with non-NF1 RAS...
Incorporation of Clinical and Molecular Variant Properties Improves the Performance of in silico Pathogenicity Prediction Tools [0.03%]
临床和分子变异特征的纳入提高了计算机预测工具的性能
Ofer Isakov,Reut Fluss,Dina Marek-Yagel et al.
Ofer Isakov et al.
Purpose: In silico pathogenicity prediction tools performance can vary depending on molecular and clinical contexts. This study aims to assess the performance of commonly used tools under different conditions. Additionall...
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly [0.03%]
视黄醇脱氢酶11功能丧失导致一种以肌病、视网膜变性、早发白内障和小头畸形为特征的隐形综合征
Francesca Clementina Radio,Giorgio Tasca,Sandra Coppens et al.
Francesca Clementina Radio et al.
Purpose: Biallelic variants in RDH11, encoding retinol dehydrogenase 11, have been associated with a syndromic disorder, based on four individuals from two unrelated families. We aimed to profile the clinical variability,...