arrow
L

Laurent C. Francioli

broad institute of mit and harvard
H指数:35
被引数:2.2万

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

基因组尸检以确定妊娠丢失和围产儿死亡的根本原因

2023-01-1924
OAAI
Characterising the loss-of-function impact of 5′ untranslated region variants in 15,708 individuals (vol 11, 2523, 2020)
2021-02-021
OAAI
The effect of LRRK2 loss-of-function variants in humans (vol 26, pg 869, 2020)

LRRK2功能缺失变异体在人类中的作用 (第26卷,869页,2020)

2021-01-220
OAAI
A structural variation reference for medical and population genetics

医学和群体遗传学的结构变异参考

Nature
IF48.5
2020-05-270
OAAI
The effect of LRRK2 loss-of-function variants in humans

LRRK2功能缺失变异体对人类的影响

2020-05-2783
OAAI
The mutational constraint spectrum quantified from variation in 141,456 humans

从141,456人类的变异中量化的突变约束谱

Nature
IF48.5
2020-05-270
OAAI
WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene
2019-12-1010
OAAI
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
2019-12-0330
OAAI
The role of de novo mutations in the development of amyotrophic lateral sclerosis

从头突变在肌萎缩侧索硬化发展中的作用

2017-08-0313
OAAI
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
2016-10-0685
OAAI
Genome-wide patterns and properties of de novo mutations in humans
2015-05-18293
OAAI
Characteristics of de novo structural changes in the human genome
2015-04-16122
OAAI
Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels
2015-03-0937
OAAI