Author details

Full Name

Rena Godfrey

Affiliation

National Human Genome Research Institute, National Institutes of Health

ORCID

Career Start Year

2012

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36774715	MYH2-associated myopathy caused by a novel splice-site variant.	Neuromuscul Disord	2023
36541585	A de novo hexokinase 1 (HK1) variant presenting as Boucher-NeuhÃ¤user syndrome.	Am J Med Genet A	2023
33097395	Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.	Mol Genet Metab	2020
29892709	Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F.	Neurol 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
22749184	Neurotransmitter abnormalities and response to supplementation in SPG11.	Mol Genet Metab	2012

1 - 10 of 10

Rebecca C Spillmann

Duke University School of Medicine

Career Start Year 2015

Number of shared co-authors 2

Zeynep Coban Akdemir

Baylor College of Medicine

Career Start Year 2012

Number of shared co-authors 7

Chandree L Beaulieu

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa

Career Start Year 2009

Number of shared co-authors 12

Taila Hartley

Children's Hospital of Eastern Ontario Research Institute

Career Start Year 2009

Number of shared co-authors 13

Catherine A Brownstein

Harvard Medical School.

Career Start Year 2008

Number of shared co-authors 13

Yaping Yang

Baylor College of Medicine

Career Start Year 2008

Number of shared co-authors 5

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 3

Emma L Baple

University of Exeter Medical School, Royal Devon & Exeter Hospital

Career Start Year 2007

Number of shared co-authors 7

Julie S Cohen

Kennedy Krieger Institute

Career Start Year 2007

Number of shared co-authors 2

Nara Sobreira

Johns Hopkins University

Career Start Year 2006

Number of shared co-authors 8

Tawfeg Ben-Omran

Hamad Medical Corporation.

Career Start Year 2005

Number of shared co-authors 5

Kaya Bilguvar

Acibadem Mehmet Ali Aydinlar University

Career Start Year 2005

Number of shared co-authors 1

Michael F Wangler

Baylor College of Medicine

Career Start Year 2005

Number of shared co-authors 8

Joel B Krier

Brigham and Women's Hospital

Career Start Year 2005

Number of shared co-authors 11

Jennifer E Posey

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 10

Saskia Biskup

Center for Genomics and Transcriptomics (CeGaT)

Career Start Year 2004

Number of shared co-authors 4

Heidi Cope

GenOmics and Translational Research Center

Career Start Year 2002

Number of shared co-authors 2

Anne O'Donnell-Luria

Broad Institute of MIT and Harvard

Career Start Year 2002

Number of shared co-authors 6

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Career Start Year 2001

Number of shared co-authors 8

Loren D M Pena

Duke University Medical Center

Career Start Year 2001

Number of shared co-authors 0

Stephan Z??chner

Hussman Institute for Human Genomics, University of Miami

Career Start Year 1998

Number of shared co-authors 17

Jennifer J Johnston

Center for Precision Health Research, National Human Genome Research Institute

Career Start Year 1997

Number of shared co-authors 3

Fuki M Hisama

University of Washington

Career Start Year 1996

Number of shared co-authors 3

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 18

Pankaj B Agrawal

Broad Institute of MIT and Harvard

Career Start Year 1995

Number of shared co-authors 5

Wendy K Chung

Boston Children's Hospital, Harvard Medical School

Career Start Year 1993

Number of shared co-authors 10

Andrea H N??meth

University of Oxford

Career Start Year 1993

Number of shared co-authors 4

Henry Houlden

Institute of Neurology, University College London (UCL)

Career Start Year 1991

Number of shared co-authors 9

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 6

Frances Lucy Raymond

University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust

Career Start Year 1983

Number of shared co-authors 8

row(s) 1 - 30 of 30

Camilo Toro

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 10

William A Gahl

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 10

Lynne A Wolfe

National Institutes of Health Undiagnosed Diseases Program

Co-authored papers 6

Catherine Groden

National Institutes of Health Intramural Research Program

Co-authored papers 6

Michele Nehrebecky

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

Co-authored papers 5

David R Adams

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 5

May Christine V Malicdan

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 5

Colleen Wahl

National Institutes of Health

Co-authored papers 5

Thomas C Markello

National Institutes of Health

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

Cynthia J Tifft

National Human Genome Research Institute

Co-authored papers 4

Murat Sincan

Boston University School of Public 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

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

Lynn Carmichael

The Genome Institute, Washington University in St. Louis

Co-authored papers 1

Christofer Bello

University of Miami Miller School of Medicine

Co-authored papers 1

Sebastian K??hler

Division of Emergency Medicine University of Calgary Calgary Alberta Canada.

Co-authored papers 1

Nicole Vasilevsky

Critical Path Institute