Author details

Full Name

Elaine T Lim

Affiliation

ORCID

Career Start Year

2012

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37300776	FACS-Based Sequencing Approach to Evaluate Cell Type to Genotype Associations Using Cerebral Organoids.		2023
37751688	Reliable multiplex generation of pooled induced pluripotent stem cells.		2023
37474752	Editorial for the Neurogenetics and Neurogenomics special issue.		2023
36877372	oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids.	Hum Genet	2023
37060896	Lack of ethnic diversity in single-cell transcriptomics hinders cell type detection and precision medicine inclusivity.	Med	2023
37369829	Modeling of mitochondrial genetic polymorphisms reveals induction of heteroplasmy by pleiotropic disease locus 10398A>G.	Sci Rep	2023
35688811	Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder.	Nat Commun	2022
33568518	Engineering adeno-associated viral vectors to evade innate immune and inflammatory responses.	Sci Transl Med	2021
33594065	Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.	NPJ Genom Med	2021
32665711	Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.	Nat Neurosci	2020
31209396	Recessive gene disruptions in autism spectrum disorder.	Nat Genet	2019
30699343	REST and Neural Gene Network Dysregulation in iPSC Models of Alzheimer's Disease.	Cell Rep	2019
30735661	The Genetic Landscape of Diamond-Blackfan Anemia.	Am J Hum Genet	2019
29673390	Enabling multiplexed testing of pooled donor cells through whole-genome sequencing.	Genome Med	2018
30503522	The Genetic Landscape of Diamond-Blackfan Anemia.	Am J Hum Genet	2018
30013045	An enhanced CRISPR repressor for targeted mammalian gene regulation.	Nat Methods	2018
30044992	The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles.	Cell Rep	2018
28714951	Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.	Nat Neurosci	2017
28387241	An unbiased index to quantify participant's phenotypic contribution to an open-access cohort.	Sci Rep	2017
25865494	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Am J Hum Genet	2015
25370044	No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia.	Eur J Hum Genet	2015
25914168	A pharmacogenetic study implicates SLC9a9 in multiple sclerosis disease activity.	Ann Neurol	2015
25078778	Distribution and medical impact of loss-of-function variants in the Finnish founder population.	PLoS Genet	2014
25439097	A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.	Am J Hum Genet	2014
24607388	An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases.	Am J Hum Genet	2014
23656588	Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.	N Engl J Med	2013
23802536	Germline mutations affecting GÎ±11 in hypoparathyroidism.	N Engl J Med	2013
23966865	Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.	PLoS Genet	2013
23593035	Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.	PLoS Genet	2013
23352163	Using whole-exome sequencing to identify inherited causes of autism.	Neuron	2013
23352160	Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.	Neuron	2013
23114594	DGAT1 mutation is linked to a congenital diarrheal disorder.	J Clin Invest	2012
22495311	Patterns and rates of exonic de novo mutations in autism spectrum disorders.	Nature	2012
22748208	A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.	Am J Hum Genet	2012
22511880	Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.	PLoS Genet	2012