Author details

Full Name

Elliott H Margulies

Affiliation

National Human Genome Research Institute, National Institutes of Health

ORCID

Career Start Year

1973

Papers

H Index

Expertise

CM4AI Collaborator

Nathan Sheffield (CM4AI)

PMID	Paper Title	Journal Title	Published Year
27903644	A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.	Genome Res	2017
27903644	A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.	Genome Res	2017
24008424	Somatic mutations in MAP3K5 attenuate its proapoptotic function in melanoma through increased binding to thioredoxin.	J Invest Dermatol	2014
24008424	Somatic mutations in MAP3K5 attenuate its proapoptotic function in melanoma through increased binding to thioredoxin.	J Invest Dermatol	2014
23736529	Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms.	Bioinformatics	2013
23901115	Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma.	Proc Natl Acad Sci U S A	2013
23752795	Sequencing studies in human genetics: design and interpretation.	Nat Rev Genet	2013
23878249	Adult pallium transcriptomes surprise in not reflecting predicted homologies across diverse chicken and mouse pallial sectors.	Proc Natl Acad Sci U S A	2013
23736529	Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms.	Bioinformatics	2013
23878249	Adult pallium transcriptomes surprise in not reflecting predicted homologies across diverse chicken and mouse pallial sectors.	Proc Natl Acad Sci U S A	2013
23901115	Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma.	Proc Natl Acad Sci U S A	2013
23752795	Sequencing studies in human genetics: design and interpretation.	Nat Rev Genet	2013
22912592	Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes.	PLoS Genet	2012
22684279	Genome-wide DNA methylation profiles in hematopoietic stem and progenitor cells reveal overrepresentation of ETS transcription factor binding sites.	Genome Res	2012
22912592	Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes.	PLoS Genet	2012
22761590	Extensive evolutionary changes in regulatory element activity during human origins are associated with altered gene expression and positive selection.	PLoS Genet	2012
23035047	Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.	Sci Transl Med	2012
23035047	Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.	Sci Transl Med	2012
22761590	Extensive evolutionary changes in regulatory element activity during human origins are associated with altered gene expression and positive selection.	PLoS Genet	2012
22684279	Genome-wide DNA methylation profiles in hematopoietic stem and progenitor cells reveal overrepresentation of ETS transcription factor binding sites.	Genome Res	2012
21558387	National Cancer Institute Prostate Cancer Genetics Workshop.	Cancer Res	2011
21771779	Accurate and comprehensive sequencing of personal genomes.	Genome Res	2011
21558387	National Cancer Institute Prostate Cancer Genetics Workshop.	Cancer Res	2011
21993624	A high-resolution map of human evolutionary constraint using 29 mammals.	Nature	2011
21946352	Exon capture analysis of G protein-coupled receptors identifies activating mutations in GRM3 in melanoma.	Nat Genet	2011
21867878	A transcriptomic atlas of mouse neocortical layers.	Neuron	2011
21900194	Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation.	Blood	2011
21858207	A bioinformatics approach for determining sample identity from different lanes of high-throughput sequencing data.	PLoS One	2011
21993624	A high-resolution map of human evolutionary constraint using 29 mammals.	Nature	2011
21867878	A transcriptomic atlas of mouse neocortical layers.	Neuron	2011
21858207	A bioinformatics approach for determining sample identity from different lanes of high-throughput sequencing data.	PLoS One	2011
21771779	Accurate and comprehensive sequencing of personal genomes.	Genome Res	2011
21900194	Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation.	Blood	2011
21946352	Exon capture analysis of G protein-coupled receptors identifies activating mutations in GRM3 in melanoma.	Nat Genet	2011
20200332	Family-based analysis of candidate genes for polycystic ovary syndrome.	J Clin Endocrinol Metab	2010
21035756	Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci.	Cell Metab	2010
20810667	Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing.	Genome Res	2010
20123915	A new strategy for genome assembly using short sequence reads and reduced representation libraries.	Genome Res	2010
20200332	Family-based analysis of candidate genes for polycystic ovary syndrome.	J Clin Endocrinol Metab	2010
20648632	Human NPY promoter variation rs16147:T>C as a moderator of prefrontal NPY gene expression and negative affect.	Hum Mutat	2010
21035756	Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci.	Cell Metab	2010
20810667	Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing.	Genome Res	2010
20648632	Human NPY promoter variation rs16147:T>C as a moderator of prefrontal NPY gene expression and negative affect.	Hum Mutat	2010
20123915	A new strategy for genome assembly using short sequence reads and reduced representation libraries.	Genome Res	2010
19286520	Local DNA topography correlates with functional noncoding regions of the human genome.	Science	2009
19286520	Local DNA topography correlates with functional noncoding regions of the human genome.	Science	2009
19608863	An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs.	Science	2009
20027311	Pebble and rock band: heuristic resolution of repeats and scaffolding in the velvet short-read de novo assembler.	PLoS One	2009
20027311	Pebble and rock band: heuristic resolution of repeats and scaffolding in the velvet short-read de novo assembler.	PLoS One	2009
19608863	An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs.	Science	2009

1 - 50 of 112

Marta Gut

Universitat de Barcelona (UB)

Career Start Year 2010

Number of shared co-authors 28

Gareth A Palidwor

Ottawa Hospital Research Institute

Career Start Year 2005

Number of shared co-authors 0

Jeffrey A Rosenfeld

Cancer Institute of New Jersey

Career Start Year 2004

Number of shared co-authors 10

Jochen Hecht

The Barcelona Institute of Science and Technology

Career Start Year 2003

Number of shared co-authors 0

Martin C Frith

Artificial Intelligence Research Center, University of Tokyo

Career Start Year 2001

Number of shared co-authors 9

Margaret B Morgan

Baylor College of Medicine

Career Start Year 2001

Number of shared co-authors 69

Martin S Taylor

Institute of Genetics and Cancer, University of Edinburgh

Career Start Year 2000

Number of shared co-authors 38

Kirsten McLay

Inivata Ltd.

Career Start Year 1999

Number of shared co-authors 56

Mark Diekhans

Genomics Institute, University of California Santa Cruz

Career Start Year 1999

Number of shared co-authors 58

Ian Korf

University of California davis

Career Start Year 1998

Number of shared co-authors 47

Vineet Bafna

University of California San Diego

Career Start Year 1998

Number of shared co-authors 14

Sarah J Wheelan

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1998

Number of shared co-authors 20

Anton Nekrutenko

The Pennsylvania State University, University Park

Career Start Year 1998

Number of shared co-authors 35

Colin A Semple

Institute of Genetics and Cancer, University of Edinburgh

Career Start Year 1997

Number of shared co-authors 17

Steven J M Jones

University of British Columbia

Career Start Year 1995

Number of shared co-authors 76

Jared C Roach

Institute for Systems Biology

Career Start Year 1995

Number of shared co-authors 10

Ping Liang

College of Chemistry and Chemical Engineering, Hunan University

Career Start Year 1995

Number of shared co-authors 0

Terry Gaasterland

Scripps Institution of Oceanography, University of California San Diego

Career Start Year 1994

Number of shared co-authors 29

Mark Yandell

University of Utah

Career Start Year 1994

Number of shared co-authors 36

Samuel Levy

Bluestar Genomics Inc.

Career Start Year 1991

Number of shared co-authors 4

Aleksandar Milosavljevic

Baylor College of Medicine

Career Start Year 1991

Number of shared co-authors 67

Winston Hide

Harvard Medical School

Career Start Year 1991

Number of shared co-authors 19

LaDeana W Hillier

University of Washington

Career Start Year 1991

Number of shared co-authors 80

Gustavo Glusman

Institute for Systems Biology

Career Start Year 1988

Number of shared co-authors 40

Steven E Scherer

Baylor College of Medicine

Career Start Year 1987

Number of shared co-authors 61

John D McPherson

Ontario Institute for Cancer Research

Career Start Year 1986

Number of shared co-authors 62

David L Adelson

University of Adelaide

Career Start Year 1985

Number of shared co-authors 28

John M Hancock

the University of Texas Health Science Center at Houston

Career Start Year 1982

Number of shared co-authors 8

Kelly A Frazer

University of California, USA Institute for Genomic Medicine

Career Start Year 1967

Number of shared co-authors 38

Richard Durbin

University of Cambridge

Career Start Year 1964

Number of shared co-authors 76

row(s) 1 - 30 of 30

Stephen C J Parker

University of Michigan ann arbor

Co-authored papers 12

Eric D Green

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 12

James C Mullikin

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 8

Gregory E Crawford

Center for Genomic & Computational Biology, Duke University

Co-authored papers 6

Ewan Birney

European Bioinformatics Institute

Co-authored papers 6

Nancy F Hansen

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 5

David Haussler

Genomics Institute, University of California Santa Cruz

Co-authored papers 5

Francis S Collins

University of Michigan ann arbor

Co-authored papers 5

Steven A Rosenberg

University of Colorado School of Medicine

Co-authored papers 4

Stylianos E Antonarakis

Co-authored papers 4

David B Jaffe

Co-authored papers 4

Kerstin Lindblad-Toh

Uppsala University

Co-authored papers 4

Sean Davis

Johns Hopkins School of Medicine, National Cancer Institute, Princeton University, University of Colorado Anschutz Medical Campus, University of Pittsburgh, University of Washington

Co-authored papers 4

Sergey I Nikolaev

Co-authored papers 4

Susan R Davis

Co-authored papers 4

Terrence S Furey

University of North Carolina at Chapel Hill

Co-authored papers 4

Eric S Lander

Vanderbilt-Ingram Cancer Center, Vanderbilt University

Co-authored papers 4

Jamie K Teer