Author details

Full Name

Colleen Wahl

Affiliation

National Institutes of Health

ORCID

Career Start Year

2012

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
29961569	De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.	Am J Hum Genet	2018
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
28762473	Late diagnosis and atypical brain imaging of Aicardi-GoutiÃ¨res syndrome: are we failing to diagnose Aicardi-GoutiÃ¨res syndrome-2?	Dev Med Child Neurol	2017
26562225	Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.	Genet Med	2016
24784157	The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.	Genet Med	2014
22237431	The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.	Genet Med	2012
22252885	IgG4-related disease presenting as recurrent mastoiditis.	Laryngoscope	2012

1 - 7 of 7

John Taylor

Oxford University Hospitals NHS Foundation Trust, Churchill Hospital

Career Start Year 2015

Number of shared co-authors 4

Eleanor G Seaby

University of Southampton

Career Start Year 2014

Number of shared co-authors 4

Carolyn D Applegate

Johns Hopkins University School of Medicine

Career Start Year 2012

Number of shared co-authors 5

Jenna R E Bergerson

National Institute of Allergy and Infectious Diseases, National Institutes of Health

Career Start Year 2011

Number of shared co-authors 14

Saumya Shekhar Jamuar

Pediatric Academic Clinical Programme, Duke-NUS Medical School

Career Start Year 2010

Number of shared co-authors 6

Ammar Husami

Cincinnati Children's Hospital Medical Center

Career Start Year 2010

Number of shared co-authors 6

Taila Hartley

Children's Hospital of Eastern Ontario Research Institute

Career Start Year 2009

Number of shared co-authors 13

Nicole Walley

Duke University School of Medicine and Duke Health System

Career Start Year 2007

Number of shared co-authors 5

Nara Sobreira

Johns Hopkins University

Career Start Year 2006

Number of shared co-authors 8

Bryn D Webb

Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison

Career Start Year 2006

Number of shared co-authors 1

David T Miller

Boston Children's Hospital

Career Start Year 2005

Number of shared co-authors 1

Katherine R Smith

Walter and Eliza Hall Institute of Medical Research

Career Start Year 2005

Number of shared co-authors 4

Joel B Krier

Brigham and Women's Hospital

Career Start Year 2005

Number of shared co-authors 12

Julie Richer

University of Ottawa, Canada Children's Hospital of Eastern Ontario

Career Start Year 2005

Number of shared co-authors 0

Jennifer E Posey

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 13

Christin D Collins

Emory University Department of Human Genetics Atlanta Georgia 30322.

Career Start Year 2003

Number of shared co-authors 1

Michael A Simpson

King's College London

Career Start Year 2002

Number of shared co-authors 1

John A Bernat

University of Iowa Hospitals and Clinics

Career Start Year 2002

Number of shared co-authors 2

Sergio D Rosenzweig

National Institute of Allergy and Infectious Diseases

Career Start Year 2001

Number of shared co-authors 25

Loren D M Pena

Duke University Medical Center

Career Start Year 2001

Number of shared co-authors 1

Alexandra F Freeman

National Institute of Allergy and Infectious Diseases

Career Start Year 2001

Number of shared co-authors 13

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 8

Marielle E van Gijn

University Medical Center Groningen

Career Start Year 1999

Number of shared co-authors 6

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 19

Franco Stanzial

Genetic Counseling Service - Regional Hospital of Bolzano

Career Start Year 1993

Number of shared co-authors 0

Patrick J Morrison

Belfast City Hospital

Career Start Year 1989

Number of shared co-authors 0

Stephen F Kingsmore

Rady Children's Institute for Genomic Medicine

Career Start Year 1988

Number of shared co-authors 3

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 10

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 6

Gholson J Lyon

NYS Institute for Basic Research in Developmental Disabilities .

Career Start Year 1972

Number of shared co-authors 11

row(s) 1 - 30 of 30

Camilo Toro

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 6

William A Gahl

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 6

Rena Godfrey

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 5

Cynthia J Tifft

National Human Genome Research Institute

Co-authored papers 5

Lynne A Wolfe

National Institutes of Health Undiagnosed Diseases Program

Co-authored papers 5

Michele Nehrebecky

National Human Genome Research Institute, National Institutes of Health (NIH)

Co-authored papers 4

Cornelius F Boerkoel

University of British Columbia

Co-authored papers 4

Gretchen Golas

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 4

Murat Sincan

Boston University School of Public Health

Co-authored papers 4

David R Adams

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 4

Catherine Groden

National Institutes of Health Intramural Research Program

Co-authored papers 4

Thomas C Markello

National Institutes of Health

Co-authored papers 4

Joie Davis

National Institutes of Health

Co-authored papers 2

Elizabeth Lee

National Institutes of Health

Co-authored papers 2

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 2

Elise Valkanas

Massachusetts General Hospital

Co-authored papers 2

Nicole L Washington

Renaissance Computing Institute, University of North Carolina

Co-authored papers 2

Ariane Soldatos

National Institute of Neurological Disorders and Stroke

Co-authored papers 2

May Christine V Malicdan

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 2

Melissa A Haendel

Co-authored papers 2

William P Bone

University of Pennsylvania - Perelman School of Medicine

Co-authored papers 2

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 2

David Draper

National Institutes of Health

Co-authored papers 2

Elise Flynn

Royal Children's Hospital

Co-authored papers 2

Amanda E Links

National Institutes of Health

Co-authored papers 2

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 2

Lakshmi Ananth

Co-authored papers 1

Mariska Davids

University of Pretoria

Co-authored papers 1

Valerie Maduro

NIH and National Human Genome Research Institute

Co-authored papers 1

Roxanne Fischer

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 1