Maria Laura Duque Lasio,John Paul Sánchez,Fabiola Quintero-Rivera
Maria Laura Duque Lasio
Efforts to increase diversity, equity, and inclusion (DEI) in academia have created additional opportunities and burdens for individuals from underrepresented groups. The "minority tax" or "cultural taxation" is defined as additional or ext...
Study design with responsible return of results for a fully remote genome sequencing study in individuals with Prader-Willi syndrome [0.03%]
一种针对普拉德-威利综合征患者的全基因组测序研究的设计及其负责任的结果反馈方法研究
Caroline J Vrana-Diaz,Jessica Bohonowych,Jaimie L Richards et al.
Caroline J Vrana-Diaz et al.
Purpose: Prader-Willi syndrome (PWS) is a complex neurodevelopmental genetic disorder affecting multiple systems. We describe the design and feasibility of a fully remote, patient group-led, genome sequencing (GS) study t...
12-month outcomes of elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) in rare CFTR missense variant [0.03%]
携带罕见CFTR错义变异的囊性纤维化患者接受elexacaftor/tezacaftor/ivacaftor治疗12个月的效果评估
Sona Vekaria,Hind Al-Abbasi,Siobhain Mulrennan
Sona Vekaria
Evidence of variations in genetic prevalence for loss-of-function PKP2 variants between individuals with European and African ancestry [0.03%]
欧洲和非洲血统个体中PKP2失活变异遗传频率差异的证据
Alexandra Winters,Renae Judy,Choudhary Anwar A Chahal et al.
Alexandra Winters et al.
Purpose: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited condition associated with increased risk for ventricular arrhythmias and sudden cardiac death. Prior ARVC studies contained majority European...
Reclassification of missense variant pathogenicity using ClinGen recommendations for recalibrated PP3/BP4 in silico predictor score thresholds [0.03%]
应用ClinGen推荐的经校准的PP3/BP4计算预测器分数阈值对错义变异致病性进行再分类
Joseph B Dubé,Sean Kim,Lynette Lau et al.
Joseph B Dubé et al.
Purpose: To estimate the effect of ClinGen-calibrated variant effect predictor (VEP) score thresholds on clinically-reported missense variants of uncertain significance (VUS) reclassification using 2015 American College o...
ACMG Medical Directors' Special Interest Group survey: Current challenges for medical genetics clinics [0.03%]
ACMG医疗主管特别兴趣小组调查：医学遗传门诊当前面临的挑战
Mark Dulchavsky,Catherine E Keegan,Nathaniel H Robin et al.
Mark Dulchavsky et al.
Purpose: The American College of Medical Genetics and Genomics Medical Directors' Special Interest Group (SIG) began in 2021 as a forum for directors of medical genetics clinical groups to share questions, concerns, curre...
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases [0.03%]
特灵顿未诊断疾病计划：解决罕见的儿童期发病遗传病的系统方法
Annalaura Torella,Manuela Morleo,Carmine Spampanato et al.
Annalaura Torella et al.
Purpose: Many children with severe genetic disorders remain undiagnosed despite advanced genomic technologies. Early diagnosis is vital for prognosis, genetic counseling, and targeted treatment development. This study aim...
Change in movement disorder specialist attitudes to genetic testing after implementation of PD GENEration [0.03%]
实施PD GENEration后运动障碍专科医生对基因检测态度的变化
Jesse Wang,Vanessa Ibrahim,Julian Agin-Liebes et al.
Jesse Wang et al.
Purpose: Despite advances in recent years, genetic testing for Parkinson disease (PD) is still underutilized in clinical practice. A 2019 questionnaire of movement disorder specialists found low rates of genetic testing i...
A population-representative survey on attitudes toward genomic newborn screening in Germany [0.03%]
德国人口代表性群体关于新生儿基因组筛查态度的调查研究
Elena Sophia Doll,Karla Alex,Carlotta Julia Mayer et al.
Elena Sophia Doll et al.
Purpose: This study assessed general attitudes toward genomic newborn screening (gNBS) among the German public. Methods: In a populatio...
Clinical risk factors predicting likelihood of pathogenic genetic result in NICU patients [0.03%]
NICU患者致病性基因结果的临床预测因素
Joshua L Bonkowsky,Samuel B Zoucha,Jenna Jensen et al.
Joshua L Bonkowsky et al.
Purpose: Children with neonatal intensive care unit (NICU) admission have higher rates of genetic disease, but it is unclear which patients should have genetic testing. Our goal was to identify clinical predictors associa...