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List of works by Elaine T Lim

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

scientific article

A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity

scientific article published on 16 October 2014

A pharmacogenetic study implicates SLC9a9 in multiple sclerosis disease activity

scientific article

An enhanced CRISPR repressor for targeted mammalian gene regulation

scientific article published on 16 July 2018

An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases

scientific article

An unbiased index to quantify participant's phenotypic contribution to an open-access cohort

scientific article

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

scientific article

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

scientific article (publication date: 23 May 2013)

DGAT1 mutation is linked to a congenital diarrheal disorder

scientific article

Distribution and medical impact of loss-of-function variants in the Finnish founder population

scientific article

Enabling multiplexed testing of pooled donor cells through whole-genome sequencing.

scientific article

Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development

scientific article

Germline mutations affecting Gα11 in hypoparathyroidism

scientific article published on June 2013

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes

scientific article

No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia

scientific article

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

article

Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder

scientific article published on 10 June 2022

Patterns and rates of exonic de novo mutations in autism spectrum disorders

scientific article

Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

scientific article published on 14 July 2020

REST and Neural Gene Network Dysregulation in iPSC Models of Alzheimer's Disease

article

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

scientific article published on January 2013

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

scientific article

Recessive gene disruptions in autism spectrum disorder

scientific article published on 17 June 2019

The Genetic Landscape of Diamond-Blackfan Anemia

scientific article published on 29 November 2018

Using whole-exome sequencing to identify inherited causes of autism

scientific article

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism

scientific article

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