Lista de obras - Elaine T Lim - Dominio Público Uruguay

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

A pharmacogenetic study implicates SLC9a9 in multiple sclerosis disease activity

artículo científico publicado en 2015

An enhanced CRISPR repressor for targeted mammalian gene regulation

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

artículo científico publicado en 2013

DGAT1 mutation is linked to a congenital diarrheal disorder

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Germline mutations affecting Gα11 in hypoparathyroidism

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Recessive gene disruptions in autism spectrum disorder

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Lista de obras de Elaine T Lim

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

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

A pharmacogenetic study implicates SLC9a9 in multiple sclerosis disease activity

An enhanced CRISPR repressor for targeted mammalian gene regulation

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

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

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

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

DGAT1 mutation is linked to a congenital diarrheal disorder

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

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

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

Germline mutations affecting Gα11 in hypoparathyroidism

Integrated 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

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

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

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

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

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

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

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

Recessive gene disruptions in autism spectrum disorder

The Genetic Landscape of Diamond-Blackfan Anemia

Using whole-exome sequencing to identify inherited causes of autism

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