The value of testing for ATXN2 intermediate repeat expansions in routine clinical practice for amyotrophic lateral sclerosis [0.03%]
ALS临床实践中常规进行ATXN2中间重复扩增检测的价值
Kristiana Salmon,Jay P Ross,Vanessa Bertone et al.
Kristiana Salmon et al.
School performance of children with neurofibromatosis 1: a nationwide population-based study [0.03%]
NF1儿童的学业表现——一项全国基于人群的研究
Karoline Doser,Federica Belmonte,Klaus Kaae Andersen et al.
Karoline Doser et al.
Children with neurofibromatosis 1 (NF1) may have a high burden of somatic disease and cognitive impairments, which can lead to poor academic performance. We evaluated school grades from exams ending mandatory schooling (usually around age 1...
Fine mapping and accurate prediction of complex traits using Bayesian Variable Selection models applied to biobank-size data [0.03%]
利用Bayesian VariableSelection模型对生物库规模数据进行精细定位和复杂性状的精准预测
Gustavo de Los Campos,Alexander Grueneberg,Scott Funkhouser et al.
Gustavo de Los Campos et al.
Modern GWAS studies use an enormous sample size and ultra-high density SNP genotypes. These conditions reduce the mapping resolution of marginal association tests-the method most often used in GWAS. Multi-locus Bayesian Variable Selection (...
An estimate of the cumulative paediatric prevalence of rare diseases in Ireland and comment on the literature [0.03%]
爱尔兰罕见病儿童累积患病率的估计及对文献的评论
Emer Gunne,Deborah M Lambert,Alana J Ward et al.
Emer Gunne et al.
Alessandra Renieri
Alessandra Renieri
'Diagnostic shock': the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning [0.03%]
“诊断冲击”——极快基因组测序技术对重症儿童及其家庭功能各方面的影响
Hilary Bowman-Smart,Danya F Vears,Gemma R Brett et al.
Hilary Bowman-Smart et al.
Rapid genomic sequencing (rGS) is being increasingly used in neonatal and paediatric intensive care units. While there is emerging evidence of clinical utility and cost-effectiveness, concerns have been raised regarding the impact of delive...
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele [0.03%]
一个新的Smith-Magenis患者，带有父系遗传的RAI1基因组内缺失突变
Alessandra Sironi,Ilaria Bestetti,Maura Masciadri et al.
Alessandra Sironi et al.
RAI1 is a dosage-sensitive gene whose decreased or increased expression by recurrent and non-recurrent 17p11.2 deletions or duplications causes Smith-Magenis (SMS) or Potocki-Lupski syndromes (PTLS), respectively. Here we report on a 21-yea...
Alisdair McNeill
Alisdair McNeill
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene [0.03%]
SRCAP基因外显子13的新型特发SVA插入引起的神经发育障碍
Boxun Zhao,Jill A Madden,Jasmine Lin et al.
Boxun Zhao et al.
Pathogenic variants in the SRCAP (SNF2-related CREBBP activator protein) gene, which encodes a chromatin-remodeling ATPase, cause neurodevelopmental disorders including Floating Harbor syndrome (FLHS). Here, we report the discovery of a de ...
Claire Redin,Christian W Thorball,Jacques Fellay
Claire Redin
SARS-CoV-2 infected a large fraction of humans in the past 2 years. The clinical presentation of acute infection varies greatly between individuals, ranging from asymptomatic or mild to life-threatening COVID-19 pneumonia with multi-organ c...