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...
Hannah J Park,Cassidy J Scott,Hadley Stevens Smith et al.
Hannah J Park et al.
Purpose: Social media provides an opportunity for the expression of people with rare conditions and may provide valuable insight into lived experiences to inform genomic care. Our objective was to describe the nature and ...
Association of HFE genotypes with hemochromatosis-related phenotypes in the All of Us research program [0.03%]
All of Us研究计划中与血色素沉着症相关表型的HFE基因型关联分析
Nandana D Rao,Ramal Moonesinghe,Lu Shi et al.
Nandana D Rao et al.
Purpose: Type 1 hereditary hemochromatosis (HH) can result in iron overload and liver disease if not detected and treated early. Most cases are found among people homozygous for HFE p.Cys282Tyr variants. Compound heterozy...
Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/ BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system [0.03%]
使用新的BRCA1 / BRCA2 ENIGMA轨迹集对BRCA1和BRCA2中的VUS进行重新分类，证明ClinGen ENIGMA专家小组规范优于标准的ACMG / AMP分类系统
Anna Benet-Pagès,Andreas Laner,Luis R Nassar et al.
Anna Benet-Pagès et al.
Purpose: Variants of uncertain significance (VUS) are considered one of the most significant impediments to the translation of genetic test results into precise clinical recommendations. The 2015 American College of Medic...
Lessons learned in migrating from one commercial genetics clinical decision-making tool to another: Assessment of data integrity and utilization [0.03%]
在迁移到另一种商业遗传学临床决策工具时学到的经验教训：数据完整性和使用评估
Calvin Le,Kevin Tatunay,Wayne Liu et al.
Calvin Le et al.
Purpose: Rapid advancements in information technology have greatly influenced clinicians' engagement with patient data for health maintenance. The electronic health record often contains multiple ways to record risk facto...
CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA [0.03%]
使用超低输入DNA的长读基因组测序进行CFTR单倍型排序
Neeru Gandotra,Antariksh Tyagi,Irina Tikhonova et al.
Neeru Gandotra et al.
Purpose: Newborn screening identifies rare diseases that result from the recessive inheritance of pathogenic variants in both copies of a gene. Long-read genome sequencing (LRS) is used for identifying and phasing genomic...
An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes [0.03%]
美国遗传诊所用于管理埃勒斯-当洛斯和高关节活动度综合症转诊的实践和政策评估
Lauren Boucher,Berkley Nestler,Daniel Groepper et al.
Lauren Boucher et al.
Purpose: Hypermobile Ehlers-Danlos syndrome (hEDS) and joint hypermobility syndrome (JHS), among other conditions, comprise a collection of heritable disorders of connective tissue. There are recognized challenges in diag...