Author details

Full Name

Valerie Maduro

Affiliation

NIH and National Human Genome Research Institute

ORCID

Career Start Year

1993

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
28603714	Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.	Front Med (Lausanne)	2017
28603714	Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.	Front Med (Lausanne)	2017
28241013	Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.	PLoS Genet	2017
28158191	ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.	PLoS Genet	2017
28158191	ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.	PLoS Genet	2017
28241013	Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.	PLoS Genet	2017
27179618	Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.	Orphanet J Rare Dis	2016
27179618	Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.	Orphanet J Rare Dis	2016
27513830	Phenotypic evolution of UNC80 loss of function.	Am J Med Genet A	2016
27785453	Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience.	Front Med (Lausanne)	2016
27785453	Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience.	Front Med (Lausanne)	2016
27513830	Phenotypic evolution of UNC80 loss of function.	Am J Med Genet A	2016
25888122	Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.	Orphanet J Rare Dis	2015
25888122	Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.	Orphanet J Rare Dis	2015
25845469	MED23-associated intellectual disability in a non-consanguineous family.	Am J Med Genet A	2015
26602380	Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.	BMC Genomics	2015
26119818	Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.	Am J Hum Genet	2015
26602380	Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.	BMC Genomics	2015
26119818	Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.	Am J Hum Genet	2015
25845469	MED23-associated intellectual disability in a non-consanguineous family.	Am J Med Genet A	2015
21179557	A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.	PLoS One	2010
21179557	A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.	PLoS One	2010
17567995	Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome.	Genome Res	2007
17567995	Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome.	Genome Res	2007
17571346	Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.	Nature	2007
17571346	Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.	Nature	2007
15718282	Comparative sequencing provides insights about the structure and conservation of marsupial and monotreme genomes.	Proc Natl Acad Sci U S A	2005
15718282	Comparative sequencing provides insights about the structure and conservation of marsupial and monotreme genomes.	Proc Natl Acad Sci U S A	2005
12529306	Pericentromeric duplications in the laboratory mouse.	Genome Res	2003
12529306	Pericentromeric duplications in the laboratory mouse.	Genome Res	2003
12917688	Comparative analyses of multi-species sequences from targeted genomic regions.	Nature	2003
12917688	Comparative analyses of multi-species sequences from targeted genomic regions.	Nature	2003
12176935	Parallel construction of orthologous sequence-ready clone contig maps in multiple species.	Genome Res	2002
12176935	Parallel construction of orthologous sequence-ready clone contig maps in multiple species.	Genome Res	2002
11420612	Comparative physical mapping of targeted regions of the rat genome.	Mamm Genome	2001
11420612	Comparative physical mapping of targeted regions of the rat genome.	Mamm Genome	2001
11237014	A physical map of the human genome.	Nature	2001
11237014	A physical map of the human genome.	Nature	2001
10742091	A systematic, high-resolution linkage of the cytogenetic and physical maps of the human genome.	Nat Genet	2000
10810084	Comparative genome mapping in the sequence-based era: early experience with human chromosome 7.	Genome Res	2000
10742091	A systematic, high-resolution linkage of the cytogenetic and physical maps of the human genome.	Nat Genet	2000
10673275	The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.	Genome Res	2000
10655503	Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes.	Proc Natl Acad Sci U S A	2000
10810084	Comparative genome mapping in the sequence-based era: early experience with human chromosome 7.	Genome Res	2000
10673275	The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.	Genome Res	2000
10655503	Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes.	Proc Natl Acad Sci U S A	2000
10400924	The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.	Genome Res	1999
10400924	The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.	Genome Res	1999
9037602	A collection of 1814 human chromosome 7-specific STSs.	Genome Res	1997
9049633	The human reelin gene: isolation, sequencing, and mapping on chromosome 7.	Genome Res	1997

1 - 50 of 64

Jochen Hecht

The Barcelona Institute of Science and Technology

Career Start Year 2003

Number of shared co-authors 4

Margaret B Morgan

Baylor College of Medicine

Career Start Year 2001

Number of shared co-authors 65

Hua Shen

Baylor College of Medicine Human Genome Sequencing Center

Career Start Year 2000

Number of shared co-authors 30

Alexandre Montpetit

McGill University and Genome Quebec Innovation Centre

Career Start Year 1998

Number of shared co-authors 32

Marjorie Withers

Baylor College of Medicine

Career Start Year 1998

Number of shared co-authors 8

Michael A Harris

Vici Syndrome Foundation

Career Start Year 1996

Number of shared co-authors 13

Len A Pennacchio

Lawrence Berkeley National Laboratory

Career Start Year 1995

Number of shared co-authors 26

Christa Lese Martin

Autism and Developmental Medicine Institute

Career Start Year 1995

Number of shared co-authors 19

Roxann G Ingersoll

Mc-Kusick-Nathans Institute of Genetic Medicine, Johns Hopkins

Career Start Year 1995

Number of shared co-authors 2

Stanley F Nelson

university of california los angeles

Career Start Year 1993

Number of shared co-authors 14

Kimberly F Doheny

Center for Inherited Disease Research, Johns Hopkins School of Medicine

Career Start Year 1993

Number of shared co-authors 11

Yiwen Zhu

Lawrence Berkeley National Laboratory

Career Start Year 1993

Number of shared co-authors 2

Arnaud Gos

Centre Medical Universitaire

Career Start Year 1992

Number of shared co-authors 2

Marie-Laure Yaspo

Max Planck Institute for Molecular Genetics

Career Start Year 1992

Number of shared co-authors 10

Thomas J Hudson

Ontario Institute for Cancer Research

Career Start Year 1991

Number of shared co-authors 42

Stephen W Scherer

The Hospital for Sick Children

Career Start Year 1990

Number of shared co-authors 38

Mark T Ross

Illumina Cambridge Ltd.

Career Start Year 1990

Number of shared co-authors 52

Christopher J Porter

Ottawa Hospital Research Institute

Career Start Year 1990

Number of shared co-authors 0

Johanna M Rommens

The Hospital for Sick Children

Career Start Year 1988

Number of shared co-authors 5

Juha Kere

Folkhalsan Research Center, University of Helsinki

Career Start Year 1987

Number of shared co-authors 12

Jiannis Ragoussis

McGill University

Career Start Year 1986

Number of shared co-authors 11

Settara C Chandrasekharappa

National Institutes of Health

Career Start Year 1983

Number of shared co-authors 19

Johan T den Dunnen

Leiden University Medical Center

Career Start Year 1982

Number of shared co-authors 25

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 41

Robert L Nussbaum

Invitae Corporation

Career Start Year 1976

Number of shared co-authors 11

David H Ledbetter

University of Florida, College of Medicine-Jacksonville

Career Start Year 1976

Number of shared co-authors 26

Alan F Scott

Johns Hopkins University School of Medicine

Career Start Year 1972

Number of shared co-authors 12

Mark F Leppert

University of Utah

Career Start Year 1968

Number of shared co-authors 26

Kelly A Frazer

University of California, USA Institute for Genomic Medicine

Career Start Year 1967

Number of shared co-authors 38

Evan E Eichler

University of Washington

Career Start Year 1964

Number of shared co-authors 99

row(s) 1 - 30 of 30

Eric D Green

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 21

Jacquelyn R Idol

Co-authored papers 12

William A Gahl

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 11

Cornelius F Boerkoel

University of British Columbia

Co-authored papers 10

Gerard G Bouffard

Co-authored papers 9

Robert S Fulton

McDonnell Genome Institute, Washington University School of Medicine

Co-authored papers 8

Pamela J Thomas

Co-authored papers 6

David R Adams

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 6

May Christine V Malicdan

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 6

Camilo Toro

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 5

Jennifer C McDowell

Co-authored papers 5

Shih-Queen Lee-Lin

National Human Genome Research Institute

Co-authored papers 5

Thomas C Markello

National Institutes of Health

Co-authored papers 4

Richard K Wilson

The Ohio State University

Co-authored papers 4

Cynthia J Tifft

National Human Genome Research Institute

Co-authored papers 4

James C Mullikin

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 4

Robert W Blakesley

Co-authored papers 4

Elliott H Margulies

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 4

David Haussler

Genomics Institute, University of California Santa Cruz

Co-authored papers 4

William P Bone

University of Pennsylvania - Perelman School of Medicine

Co-authored papers 4

William James Kent

Co-authored papers 4

Webb Miller

Co-authored papers 4

Nancy F Hansen

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 3

Lynne A Wolfe

National Institutes of Health Undiagnosed Diseases Program

Co-authored papers 3

Alice C Young

Co-authored papers 3

Adam Siepel

Co-authored papers 3

Jean Weissenbach

Institut Francois Jacob, CNRS, Universite Paris-Saclay

Co-authored papers 3

Amanda E Links

National Institutes of Health

Co-authored papers 3

Baishali Maskeri

Co-authored papers 3

Donna Karolchik

Co-authored papers 3

1 - 30

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