Author details

Full Name

Ni Huang

Affiliation

Washington University School of Medicine

ORCID

Career Start Year

2008

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37053313	The origins and functional effects of postzygotic mutations throughout the human life span.	Science	2023
37053313	The origins and functional effects of postzygotic mutations throughout the human life span.	Science	2023
34933938	Accessible Region Conformation Capture (ARC-C) gives high-resolution insights into genome architecture and regulation.	Genome Res	2022
34933938	Accessible Region Conformation Capture (ARC-C) gives high-resolution insights into genome architecture and regulation.	Genome Res	2022
32722048	Subtyping <i>Cryptosporidium ryanae</i>: A Common Pathogen in Bovine Animals.	Microorganisms	2020
32722048	Subtyping <i>Cryptosporidium ryanae</i>: A Common Pathogen in Bovine Animals.	Microorganisms	2020
31602465	Physical and functional interaction between SET1/COMPASS complex component CFP-1 and a Sin3S HDAC complex in C. elegans.	Nucleic Acids Res	2019
31604923	Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility.	Nat Commun	2019
31602465	Physical and functional interaction between SET1/COMPASS complex component CFP-1 and a Sin3S HDAC complex in C. elegans.	Nucleic Acids Res	2019
31604923	Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility.	Nat Commun	2019
30362940	Chromatin accessibility dynamics across <i>C. elegans</i> development and ageing.	Elife	2018
30362940	Chromatin accessibility dynamics across <i>C. elegans</i> development and ageing.	Elife	2018
29022589	Dynamic landscape and regulation of RNA editing in mammals.	Nature	2017
28980937	Correction: A team of heterochromatin factors collaborates with small RNA pathways to combat repetitive elements and germline stress.	Elife	2017
29022589	Dynamic landscape and regulation of RNA editing in mammals.	Nature	2017
28294943	A team of heterochromatin factors collaborates with small RNA pathways to combat repetitive elements and germline stress.	Elife	2017
28294943	A team of heterochromatin factors collaborates with small RNA pathways to combat repetitive elements and germline stress.	Elife	2017
28980937	Correction: A team of heterochromatin factors collaborates with small RNA pathways to combat repetitive elements and germline stress.	Elife	2017
27791097	Stable <i>Caenorhabditis elegans</i> chromatin domains separate broadly expressed and developmentally regulated genes.	Proc Natl Acad Sci U S A	2016
27791097	Stable <i>Caenorhabditis elegans</i> chromatin domains separate broadly expressed and developmentally regulated genes.	Proc Natl Acad Sci U S A	2016
26203179	A Screen for Genomic Disorders of Infertility Identifies MAST2 Duplications Associated with Nonobstructive Azoospermia in Humans.	Biol Reprod	2015
26473511	Improved detection of disease-associated variation by sex-specific characterization and prediction of genes required for fertility.	Andrology	2015
26203179	A Screen for Genomic Disorders of Infertility Identifies MAST2 Duplications Associated with Nonobstructive Azoospermia in Humans.	Biol Reprod	2015
26473511	Improved detection of disease-associated variation by sex-specific characterization and prediction of genes required for fertility.	Andrology	2015
25315429	Deletions of chromosomal regulatory boundaries are associated with congenital disease.	Genome Biol	2014
25315429	Deletions of chromosomal regulatory boundaries are associated with congenital disease.	Genome Biol	2014
23563609	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Nat Genet	2013
23563609	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Nat Genet	2013
23555275	Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.	PLoS Genet	2013
23555275	Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.	PLoS Genet	2013
22199024	Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.	Hum Mol Genet	2012
22344438	A systematic survey of loss-of-function variants in human protein-coding genes.	Science	2012
22726847	Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.	Am J Hum Genet	2012
22566635	A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.	Proc Natl Acad Sci U S A	2012
22366785	Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.	Nat Genet	2012
23217326	Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.	Am J Hum Genet	2012
22199024	Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.	Hum Mol Genet	2012
22057783	Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data.	Hum Genet	2012
23217326	Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.	Am J Hum Genet	2012
22726847	Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.	Am J Hum Genet	2012
22566635	A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.	Proc Natl Acad Sci U S A	2012
22366785	Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.	Nat Genet	2012
22344438	A systematic survey of loss-of-function variants in human protein-coding genes.	Science	2012
22057783	Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data.	Hum Genet	2012
21278390	High incidence of recurrent copy number variants in patients with isolated and syndromic MÃ¼llerian aplasia.	J Med Genet	2011
21278390	High incidence of recurrent copy number variants in patients with isolated and syndromic MÃ¼llerian aplasia.	J Med Genet	2011
20106866	Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease.	Hum Mol Genet	2010
20976243	Characterising and predicting haploinsufficiency in the human genome.	PLoS Genet	2010
20130649	A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.	Nature	2010
19966786	Large, rare chromosomal deletions associated with severe early-onset obesity.	Nature	2010

1 - 50 of 58

Aaron M Wenger

Stanford School of Medicine

Career Start Year 2010

Number of shared co-authors 4

Hilary C Martin

Wellcome Sanger Institute

Career Start Year 2010

Number of shared co-authors 6

Sebastian M Waszak

University of California san francisco

Career Start Year 2010

Number of shared co-authors 4

Martin Kircher

Berlin Institute of Health (BIH) at Charite-Universitatsmedizin Berlin

Career Start Year 2008

Number of shared co-authors 6

Tomasz Gambin

Institute of Computer Science, Warsaw University of Technology

Career Start Year 2007

Number of shared co-authors 7

James G D Prendergast

The Roslin Institute, The University of Edinburgh

Career Start Year 2005

Number of shared co-authors 3

Ziad Khan

Baylor College of Medicine

Career Start Year 2005

Number of shared co-authors 6

Daniel C Koboldt

Institute for Genomic Medicine, Nationwide Children's Hospital

Career Start Year 2005

Number of shared co-authors 13

Alicia Hawes

Regeneron Pharmaceuticals Inc.

Career Start Year 2004

Number of shared co-authors 16

Shane McCarthy

Wellcome Sanger Institute

Career Start Year 2004

Number of shared co-authors 13

Feng Zhang

Obstetrics and Gynecology Hospital, Human Phenome Institute, Fudan University

Career Start Year 2004

Number of shared co-authors 5

Jin P Szatkiewicz

University of North Carolina

Career Start Year 2003

Number of shared co-authors 3

Anne O'Donnell-Luria

Broad Institute of MIT and Harvard

Career Start Year 2002

Number of shared co-authors 9

Yufeng Shen

Columbia University

Career Start Year 2002

Number of shared co-authors 6

Kai Wang

University of Pennsylvania

Career Start Year 2001

Number of shared co-authors 20

Margaret B Morgan

Baylor College of Medicine

Career Start Year 2001

Number of shared co-authors 9

Stacey Gabriel

Broad Institute of MIT and Harvard

Career Start Year 2001

Number of shared co-authors 30

Jan O Korbel

European Bioinformatics Institute (EMBL-EBI)

Career Start Year 2001

Number of shared co-authors 11

Hua Shen

Baylor College of Medicine Human Genome Sequencing Center

Career Start Year 2000

Number of shared co-authors 7

Nancy F Hansen

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2000

Number of shared co-authors 8

Martin S Taylor

Institute of Genetics and Cancer, University of Edinburgh

Career Start Year 2000

Number of shared co-authors 7

Colin A Semple

Institute of Genetics and Cancer, University of Edinburgh

Career Start Year 1997

Number of shared co-authors 4

Jay Shendure

University of Washington

Career Start Year 1996

Number of shared co-authors 16

Kimberly F Doheny

Center for Inherited Disease Research, Johns Hopkins School of Medicine

Career Start Year 1993

Number of shared co-authors 3

Donna M Muzny

Baylor College of Medicine

Career Start Year 1988

Number of shared co-authors 26

Mark J Daly

Massachusetts General Hospital

Career Start Year 1987

Number of shared co-authors 34

Eric S Lander

Vanderbilt-Ingram Cancer Center, Vanderbilt University

Career Start Year 1986

Number of shared co-authors 18

James C Mullikin

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1985

Number of shared co-authors 15

Kelly A Frazer

University of California, USA Institute for Genomic Medicine

Career Start Year 1967

Number of shared co-authors 10

Evan E Eichler

University of Washington

Career Start Year 1964

Number of shared co-authors 25

row(s) 1 - 30 of 30

Matthew E Hurles

Wellcome Sanger Institute

Co-authored papers 14

Donald F Conrad

Co-authored papers 9

Julie Ahringer

Co-authored papers 6

Przemyslaw Stempor

Co-authored papers 6

Chris Tyler-Smith

Wellcome Sanger Institute

Co-authored papers 5

Yan Dong

Co-authored papers 5

Alex Appert

Co-authored papers 5

Avinash Ramu

Washington University School of Medicine

Co-authored papers 3

Stephen O'Rahilly

Co-authored papers 3

Ismaa Sadaf Farooqi

Co-authored papers 3

Emmanouil T Dermitzakis

University of Geneva

Co-authored papers 2

Nigel P Carter

4Wellcome Trust Sanger Institute

Co-authored papers 2

Katinka A Vigh-Conrad

Co-authored papers 2

David N Cooper

Institute of Medical Genetics, Cardiff University

Co-authored papers 2

Daniel G MacArthur

Broad Institute of MIT and Harvard

Co-authored papers 2

Paulina Kolasinska-Zwierz

Co-authored papers 2

Daniel H Geschwind

University of California los angeles

Co-authored papers 2

Ron A-J Chen

Co-authored papers 2

Michiel J Noordam

Co-authored papers 2

Stephan J Sanders

Co-authored papers 2

Panos Deloukas

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 1

Jonathan Stephens

Co-authored papers 1

Kerrin S Small

Co-authored papers 1

Sven Bergmann

University of Lausanne

Co-authored papers 1

Serena Nik-Zainal

Early Cancer Institute, University of Cambridge

Co-authored papers 1

Bernie Devlin

Co-authored papers 1

Menachem Fromer

Co-authored papers 1

Eric Banks

Broad Institute of MIT and Harvard

Co-authored papers 1

Hannah Blackburn

Co-authored papers 1

Jennifer Jolley

Co-authored papers 1

1 - 30

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