Author details

Full Name

Amanda E Links

Affiliation

National Institutes of Health

ORCID

Career Start Year

2015

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
27179618	Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.	Orphanet J Rare Dis	2016
26562225	Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.	Genet Med	2016
27785453	Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience.	Front Med (Lausanne)	2016
27253732	Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.	Genet Med	2016
25577287	York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.	Mol Genet Metab	2015
26251998	PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.	Hum Mutat	2015

1 - 7 of 7

Stephen B Ellis

Icahn School of Medicine at Mount Sinai

Career Start Year 2013

Number of shared co-authors 0

John J Connolly

Center for Applied Genomics, Children's Hospital of Philadelphia

Career Start Year 2012

Number of shared co-authors 0

Huan Mo

University of Texas MD Anderson Cancer Center

Career Start Year 2011

Number of shared co-authors 0

Omri Gottesman

Icahn School of Medicine at Mount Sinai

Career Start Year 2011

Number of shared co-authors 0

Jose Luis Ambite

University of Southern California

Career Start Year 2010

Number of shared co-authors 0

Lisa Bastarache

Vanderbilt University Medical Center

Career Start Year 2009

Number of shared co-authors 0

Anastasia L Wise

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2008

Number of shared co-authors 5

Jessica D Tenenbaum

Duke University

Career Start Year 2006

Number of shared co-authors 1

Joel T Dudley

Institute for Next Generation Healthcare

Career Start Year 2006

Number of shared co-authors 1

Jill M Pulley

Vanderbilt University School of Medicine

Career Start Year 2005

Number of shared co-authors 0

Janey Wang

Vanderbilt University Medical Center

Career Start Year 2005

Number of shared co-authors 0

Erin M Ramos

National Human Genome Research Institute

Career Start Year 2004

Number of shared co-authors 2

Wei-Qi Wei

Vanderbilt University Medical Center

Career Start Year 2004

Number of shared co-authors 2

Philip R O Payne

Institute for Informatics, Washington University School of Medicine in St. Louis

Career Start Year 2003

Number of shared co-authors 2

Noura S Abul-Husn

Institute for Genomic Health, Icahn School of Medicine at Mount Sinai

Career Start Year 2002

Number of shared co-authors 0

Gil Alterovitz

Brigham and Women's Hospital

Career Start Year 2002

Number of shared co-authors 6

Griffin M Weber

Harvard Medical School

Career Start Year 2001

Number of shared co-authors 2

Brian H Shirts

Institute for Public Health Genetics, University of Washington

Career Start Year 2000

Number of shared co-authors 0

Joshua C Denny

Vanderbilt University

Career Start Year 2000

Number of shared co-authors 1

Robert R Freimuth

Center for Individualized Medicine, Mayo Clinic

Career Start Year 2000

Number of shared co-authors 9

Sarah C Stallings

Vanderbilt University Medical Center

Career Start Year 1997

Number of shared co-authors 0

Melissa A Basford

Vanderbilt University

Career Start Year 1997

Number of shared co-authors 1

Atul J Butte

Bakar Computational Health Sciences Institute, University of California san francisco

Career Start Year 1993

Number of shared co-authors 1

Peter Tarczy-Hornoch

University of Washington School of Medicine, University of Washington

Career Start Year 1992

Number of shared co-authors 0

Shawn N Murphy

Harvard Medical School

Career Start Year 1986

Number of shared co-authors 2

Marc S Williams

University of Washington Medical Center

Career Start Year 1985

Number of shared co-authors 7

Isaac S Kohane

Harvard Medical School

Career Start Year 1983

Number of shared co-authors 4

Geoffrey S Ginsburg

National Institutes of Health

Career Start Year 1981

Number of shared co-authors 0

Brian D Athey

University of Michigan Medical School ann arbor

Career Start Year 1977

Number of shared co-authors 2

Yves A Lussier

Center for Biomedical Informatics and Biostatistics, University of Arizona

Career Start Year 1971

Number of shared co-authors 1

row(s) 1 - 30 of 30

Cornelius F Boerkoel

University of British Columbia

Co-authored papers 7

William A Gahl

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 7

David R Adams

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

Elizabeth Lee

National Institutes of Health

Co-authored papers 5

William P Bone

University of Pennsylvania - Perelman School of Medicine

Co-authored papers 5

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 4

Murat Sincan

Boston University School of Public Health

Co-authored papers 4

Melissa A Haendel

Co-authored papers 4

David Draper

National Institutes of Health

Co-authored papers 3

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 3