Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans [0.03%]
视黄酸胚胎病人类短链脱氢酶/还原酶3(DHRS3)缺乏症的鉴定和表征
Akiko Soneda Hashimoto,Jianshi Yu,Christina Williams et al.
Akiko Soneda Hashimoto et al.
Purpose: Signaling by the morphogen all-trans retinoic acid (RA) is critical for embryonic development, during which its tissue concentration must be tightly regulated. We investigated 8 sibships (12 individuals) segregat...
Estimation of PEX1-mediated Zellweger spectrum disorder births and population prevalence by population genetics modeling [0.03%]
基于人群遗传学模型的PEX1介导的Zellweger光谱紊乱出生及人群流行病学估计
Karen E Malone,Catherine Argyriou,Evelyn Zavacky et al.
Karen E Malone et al.
Purpose: Zellweger Spectrum Disorder (ZSD) is a rare syndromic disorder characterized by impaired peroxisome assembly and function. Many cases are due to pathogenic variants in the PEX1 gene and are inherited in an autoso...
Pharmacogenomic testing implementation: Tertiary care center experience and results of a pilot of 512 patients [0.03%]
药物基因分型检测的实施：三级医疗中心的经验及512名患者试点的结果分析
Dana Bakheet,Hana Al Alshaykh,Ghadi Askar et al.
Dana Bakheet et al.
Purpose: Pharmacogenomic (PGx) testing has proven significant clinical utility in minimizing adverse drug reactions and maximizing therapeutic effects. This report is a proof of concept of the clinical implementation of P...
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels [0.03%]
ClinGen RASopathy 专家小组的变异解读和基因注释的 ACMG/AMP 更新规范
Emma H Wilcox,Ryan F Webb,Kezang C Tshering et al.
Emma H Wilcox et al.
Purpose: The ClinGen RASopathy (RAS) Variant Curation Expert Panel (VCEP) previously established RASopathy specifications to the American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathol...
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships [0.03%]
ClinGen综合症性疾病基因评审专家组：评估111种基因与疾病之间的临床相关性
Eleanor C Broeren,Vanessa N Gitau,Alicia B Byrne et al.
Eleanor C Broeren et al.
Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders Gene Curation Expert Panel (SD-GCEP) was...
Genetic and functional characterization of inherited complex chromosomal rearrangements in a family with multisystem anomalies [0.03%]
遗传与功能表征家庭复杂染色体重排及其导致的多系统异常现象
He Fang,Stephen M Eacker,Yu Wu et al.
He Fang et al.
Purpose: Complex chromosomal rearrangements (CCRs) are rare structural variants involving 3 or more chromosomal breakpoints. Most de novo-reported CCRs pose challenges for diagnosis and management. They often require kary...
Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder [0.03%]
以视神经异常和脑部畸形为特征的常染色体显性HK1相关神经发育障碍（NEDVIBA）：一种新兴的线粒体疾病
Bobby G Ng,Erik A Eklund,Jill A Rosenfeld et al.
Bobby G Ng et al.
Purpose: Hexokinase 1 (HK1) encodes a ubiquitously expressed hexokinase, which is responsible for the first step of glycolysis, phosphorylation of glucose to glucose-6-phosphate. Both autosomal recessive and dominant vari...
Utility of eConsult to enhance delivery of cancer genetic services and identify hereditary cancer knowledge gaps in primary care [0.03%]
基于初级保健的遗传服务和遗传性癌症知识缺口的eConsult作用分析
Alison Rusnak,Danica Goulet,Shawna Morrison et al.
Alison Rusnak et al.
Purpose: This study analyzed the utility of electronic consultation (eConsult) for hereditary cancer (HC) and aimed to identify primary care practitioner (PCP) knowledge gaps. ...
P253 Next-generation phenotyping facilitates the identification of structural brain malformations in rare disorders through computational brain MRI analysis [0.03%]
下一代表型分析通过计算脑MRI分析促进罕见疾病中结构脑畸形的识别
Tzung-Chien Hsieh,Shriya Jaddu,Hannah Weiland et al.
Tzung-Chien Hsieh et al.
Introduction: Many rare disorders, particularly neurodevelopmental conditions, manifest structural brain malformations. Just as dysmorphologists rely on facial gestalt recognition to identify syndromes, radiologists and n...
Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism [0.03%]
WASH复合物组分WASHC3的变异导致身材矮小，神经发育异常以及独特的面部畸形
Youn Hee Jee,Julian C Lui,Dana Marafi et al.
Youn Hee Jee et al.
Purpose: Genetic defects that impair growth plate chondrogenesis cause a phenotype that varies from skeletal dysplasia to mild short stature with or without other syndromic features. In many individuals with impaired skel...