Author details

Full Name

Marta Girdea

Affiliation

DATA Team and Techna Institute, University Health Network

ORCID

Career Start Year

2010

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
35165961	PhenomeCentral: 7 years of rare disease matchmaking.	Hum Mutat	2022
29158552	Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.	Eur J Hum Genet	2017
27785453	Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience.	Front Med (Lausanne)	2016
28567303	Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.	NPJ Genom Med	2016
26562225	Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.	Genet Med	2016
25109851	Phenotyping: targeting genotype's rich cousin for diagnosis.	J Paediatr Child Health	2015
26437450	Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function Data.	PLoS One	2015
26251998	PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.	Hum Mutat	2015
26295439	The Matchmaker Exchange: a platform for rare disease gene discovery.	Hum Mutat	2015
26255989	The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles.	Hum Mutat	2015
24217912	The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.	Nucleic Acids Res	2014
23401191	Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.	Hum Mutat	2013
23636887	PhenoTips: patient phenotyping software for clinical and research use.	Hum Mutat	2013
20047662	Back-translation for discovering distant protein homologies in the presence of frameshift mutations.	Algorithms Mol Biol	2010
20936175	Designing Efficient Spaced Seeds for SOLiD Read Mapping.	Adv Bioinformatics	2010

1 - 15 of 15

Kymberleigh A Pagel

The Institute for Computational Medicine, The Johns Hopkins University

Career Start Year 2016

Number of shared co-authors 1

Jamie M Ellingford

University of Manchester

Career Start Year 2015

Number of shared co-authors 12

Amin Ardeshirdavani

STADIUS Center for Dynamical Systems

Career Start Year 2013

Number of shared co-authors 8

Ben Weisburd

Broad Institute of MIT and Harvard

Career Start Year 2012

Number of shared co-authors 7

Manuel Holtgrewe

Berlin Institute of Health

Career Start Year 2011

Number of shared co-authors 8

Vikas Pejaver

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

Career Start Year 2010

Number of shared co-authors 3

Max Schubach

Berlin Institute of Health of Health at Charite - Universitatsmedizin Berlin

Career Start Year 2010

Number of shared co-authors 18

Marten J??ger

Charite Universitatsmedizin Berlin

Career Start Year 2010

Number of shared co-authors 16

Konrad J Karczewski

Broad Institute of MIT and Harvard

Career Start Year 2010

Number of shared co-authors 8

Matthew S Lebo

Harvard Medical School, Brigham and Women's Hospital

Career Start Year 2009

Number of shared co-authors 11

Christian Gilissen

Radboud University Medical Center

Career Start Year 2009

Number of shared co-authors 23

Eric Venner

Baylor College of Medicine

Career Start Year 2009

Number of shared co-authors 2

Angela Del Pozo

Instituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz

Career Start Year 2008

Number of shared co-authors 1

Jeffrey G Reid

Regeneron Pharmaceuticals, Inc.

Career Start Year 2007

Number of shared co-authors 6

Fereydoun Hormozdiari

University of California davis

Career Start Year 2007

Number of shared co-authors 4

Praveen F Cherukuri

Sanford School of Medicine, University of South Dakota

Career Start Year 2005

Number of shared co-authors 13

Ali Torkamani

Scripps Science Institute

Career Start Year 2005

Number of shared co-authors 7

Daniel C Koboldt

Institute for Genomic Medicine, Nationwide Children's Hospital

Career Start Year 2005

Number of shared co-authors 3

Morris A Swertz

University of Groningen, University Medical Center Groningen

Career Start Year 2004

Number of shared co-authors 20

Daniel Danis

Biomedical Research Center, Slovak Academy of Sciences

Career Start Year 2003

Number of shared co-authors 20

Dominik Seelow

Berliner Institut fur Gesundheitsforschung - Charite

Career Start Year 2002

Number of shared co-authors 19

Anne O'Donnell-Luria

Broad Institute of MIT and Harvard

Career Start Year 2002

Number of shared co-authors 23

Yufeng Shen

Columbia University

Career Start Year 2002

Number of shared co-authors 5

Sean D Mooney

University of Washington

Career Start Year 2001

Number of shared co-authors 6

Peter M Krawitz

Institute for Genomic Statistics and Bioinformatics, University of Bonn

Career Start Year 2001

Number of shared co-authors 20

Kai Wang

University of Pennsylvania

Career Start Year 2001

Number of shared co-authors 22

Eric Banks

Broad Institute of MIT and Harvard

Career Start Year 1999

Number of shared co-authors 5

Jonathan S Berg

University of North Carolina

Career Start Year 1999

Number of shared co-authors 17

Jenny C Taylor

University of Oxford

Career Start Year 1996

Number of shared co-authors 21

Martin G Reese

Fabric Genomics Inc.

Career Start Year 1996

Number of shared co-authors 16

row(s) 1 - 30 of 30

Michael Brudno

University of Toronto

Co-authored papers 12

Sergiu Dumitriu

DATA Team and Techna Institute, University Health Network

Co-authored papers 6

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 5

Orion J Buske

The Hospital for Sick Children

Co-authored papers 5

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 5

Christopher J Mungall

International Society for Biocuration, Lawrence Berkeley National Laboratory, University of Edinburgh, University of Edinburgh School of Biological Sciences

Co-authored papers 5

Melissa A Haendel

Co-authored papers 5

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 4

Nicole L Washington

Renaissance Computing Institute, University of North Carolina

Co-authored papers 4

Kym M Boycott

Children's Hospital of Eastern Ontario

Co-authored papers 4