L Lazo de la Vega,W Yu,K Machini et al.
L Lazo de la Vega et al.
Purpose: An efficient framework to identify disease-associated genes is needed to evaluate genomic data for both individuals with an unknown disease etiology and those undergoing genomic screening. Here, we propose a fram...
Primary care providers' responses to unsolicited Lynch syndrome secondary findings of varying clinical significance [0.03%]
不同临床意义的利氏综合症二级发现对初级保健提供者的影响响应
Lauren N Galbraith,Charlene L Preys,Heidi L Rehm et al.
Lauren N Galbraith et al.
Purpose: How primary care providers (PCPs) respond to genomic secondary findings (SFs) of varying clinical significance (pathogenic, uncertain significance [VUS], or benign) is unknown. ...
Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions [0.03%]
荷兰普通人群中夫妻进行基于夫妇的扩展携带者筛查：心理结果和生育意愿
Erwin Birnie,Juliette Schuurmans,Mirjam Plantinga et al.
Erwin Birnie et al.
Purpose: The aim of expanded preconception carrier screening (ECS) is to inform any couple wishing to conceive about their chances of having children with severe autosomal or X-linked recessive conditions. Responsible imp...
Ask me later: deciding to have clinical exome trio sequencing for my critically ill child [0.03%]
迟些再告诉我吧——在我重症孩子身上进行临床全外显子家系测序前的抉择过程
Jill Oliver Robinson
Jill Oliver Robinson
Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al [0.03%]
关于Polla等人的论文《母系遗传的神经发育障碍相关新发MED12基因变异》的来信
Florence Riccardi,Alexandre Astier,Margot Grisval et al.
Florence Riccardi et al.
A P M de Brouwer
A P M de Brouwer
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies [0.03%]
PLXNA1双等位基因和单等位基因变异与一种新的神经发育障碍相关，这种障碍具有可变的脑及眼异常症状
Gabriel C Dworschak,Jaya Punetha,Jeshurun C Kalanithy et al.
Gabriel C Dworschak et al.
Purpose: To investigate the effect of PLXNA1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and to functionally characterize the zebrafish homologs plxna1a and plxna1b dur...
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model [0.03%]
X连锁的 creatinine转运蛋白缺乏导致人类和疾病模型QT间期延长及猝死风险增加
Mark D Levin,Simona Bianconi,Andrew Smith et al.
Mark D Levin et al.
Purpose: Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). CTD features include developmental delay, seizures, and autism spectrum diso...
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes [0.03%]
纠正：EPHB4相关的两面神样疾病：新的致病变异和未报道的家族内重叠表型
Silvia Martin-Almedina,Kazim Ogmen,Ege Sackey et al.
Silvia Martin-Almedina et al.
SNORD116 and growth hormone therapy impact IGFBP7 in Prader-Willi syndrome [0.03%]
SNORD116和生长激素治疗影响普拉德-威利综合征中的IGFBP7
Sanaa Eddiry,Gwenaelle Diene,Catherine Molinas et al.
Sanaa Eddiry et al.
Purpose: Prader-Willi syndrome (PWS) is a neurodevelopmental disorder with hypothalamic dysfunction due to deficiency of imprinted genes located on the 15q11-q13 chromosome. Among them, the SNORD116 gene appears critical ...