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Susan K. Dutcher

Washington University School of Medicine
H指数:60
被引数:1.9万

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Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

全基因组测序揭示了关于9p染色体综合征在个体和群体层面的见解

2025-10-260
OAAI
Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study
2023-10-012
OAAI
The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes
2023-06-088
OA
Whole genome sequence analysis of blood lipid levels in >66,000 individuals

> 66,000个人血脂水平的全基因组序列分析

2022-10-1124
OAAI
Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes

35个基因的罕见编码变异与循环脂质水平相关 -- 170,000外显子组的多祖先分析

2022-01-0123
OAAI
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

染色体Xq23与较低的致动脉粥样硬化脂质浓度和良好的心脏代谢指标相关

2021-04-1212
OAAI
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

多个计算机功能注释的动态整合使大规模全基因组测序研究的罕见变异关联分析成为可能

2020-08-24138
OAAI
Mapping and characterization of structural variation in 17,795 human genomes
Nature
IF48.5
2020-05-270
PREAI
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry
2019-11-01153
OAAI