Bryn D Webb,Julie A Jurgens,Narisu Narisu et al.
Bryn D Webb et al.
Purpose: To explore the phenotypic spectrum and genetic etiologies of Moebius Syndrome (MBS), a rare neurological disorder defined by congenital, nonprogressive facial weakness and limitations in ocular abduction. ...
Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) [0.03%]
早发性metachromatic白质营养不良（MLD）患者的lenmeldy（造血干细胞移植）：美国医学遗传学院（ACMG）治疗通报
Rahaman Navaz Gangji,Qais Abu Ali,Radhika Dhamija et al.
Rahaman Navaz Gangji et al.
Successes of an innovative population-based carrier screening program for 4 prevalent recessive hereditary diseases in a population with a founder effect in Quebec, Canada [0.03%]
加拿大魁北克一个具有遗传效应的群体中四种常见隐性遗传病创新性的基于人口携带者筛查项目的成功经验
Carol-Ann Fortin,Mélanie Côté-Richer,Karine Truchon et al.
Carol-Ann Fortin et al.
Purpose: The Saguenay-Lac-Saint-Jean, Haute-Côte-Nord, and Charlevoix regions in Canada have a high prevalence of 4 autosomal recessive diseases with high morbidity and/or reduced life expectancy. As a result, a carrier ...
Early diagnosis of vascular Ehlers-Danlos syndrome through AI-powered facial analysis: Results from the Montalcino Aortic Consortium [0.03%]
人工智能面部分析早期诊断血管型埃勒斯-丹洛斯综合征：蒙塔尔奇诺主动脉联盟的结果
David R Murdock,Adarsh Suresh,Ernesto Calderon Martinez et al.
David R Murdock et al.
Purpose: Vascular Ehlers-Danlos syndrome (vEDS), which is caused by COL3A1 pathogenic variants, is a rare heritable aortic and arterial disorder associated with early mortality, mainly due to spontaneous vascular dissecti...
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...