about
A pharmacogenetic study implicates SLC9a9 in multiple sclerosis disease activityAtaxia, dementia, and hypogonadotropism caused by disordered ubiquitinationUsing whole-exome sequencing to identify inherited causes of autism.An unbiased index to quantify participant's phenotypic contribution to an open-access cohortDistribution and medical impact of loss-of-function variants in the Finnish founder population.Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal DevelopmentIntegrated model of de novo and inherited genetic variants yields greater power to identify risk genes.No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia.Rare complete knockouts in humans: population distribution and significant role in autism spectrum disordersAn excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases.Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesityEnabling multiplexed testing of pooled donor cells through whole-genome sequencing.The Genetic Landscape of Diamond-Blackfan AnemiaREST and Neural Gene Network Dysregulation in iPSC Models of Alzheimer's DiseaseRecessive gene disruptions in autism spectrum disorderAn enhanced CRISPR repressor for targeted mammalian gene regulation
P50
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Elaine T Lim
@ast
Elaine T Lim
@en
Elaine T Lim
@es
Elaine T Lim
@nl
type
label
Elaine T Lim
@ast
Elaine T Lim
@en
Elaine T Lim
@es
Elaine T Lim
@nl
prefLabel
Elaine T Lim
@ast
Elaine T Lim
@en
Elaine T Lim
@es
Elaine T Lim
@nl
P106
P31
P496
0000-0003-3651-0654