Author details

Full Name

Carol A Bocchini

Affiliation

Johns Hopkins University School of Medicine

ORCID

Career Start Year

1994

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
35507016	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.	Genet Med	2022
34169650	Online Mendelian Inheritance in Man (OMIMÂ®): Victor McKusick's magnum opus.	Am J Med Genet A	2021
34478655	Response to Biesecker etÂ al.	Am J Hum Genet	2021
30445645	OMIM.org: leveraging knowledge across phenotype-gene relationships.	Nucleic Acids Res	2019
25428349	OMIM.org: Online Mendelian Inheritance in Man (OMIMÂ®), an online catalog of human genes and genetic disorders.	Nucleic Acids Res	2015
25078397	Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.	Bioinformatics	2014
21472891	A new face and new challenges for Online Mendelian Inheritance in Man (OMIMÂ®).	Hum Mutat	2011
18842627	McKusick's Online Mendelian Inheritance in Man (OMIM).	Nucleic Acids Res	2009
15608251	Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.	Nucleic Acids Res	2005
11752252	Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.	Nucleic Acids Res	2002
7937048	The status of online Mendelian inheritance in man (OMIM) medio 1994.	Nucleic Acids Res	1994

1 - 11 of 11

Michael Gargano

Career Start Year 2019

Number of shared co-authors 9

Daniel Greene

University of Cambridge

Career Start Year 2015

Number of shared co-authors 10

Eleanor G Seaby

University of Southampton

Career Start Year 2014

Number of shared co-authors 12

Sergiu Dumitriu

DATA Team and Techna Institute, University Health Network

Career Start Year 2013

Number of shared co-authors 9

Julius O B Jacobsen

William Harvey Research Institute, Queen Mary University of London

Career Start Year 2012

Number of shared co-authors 24

Carolyn D Applegate

Johns Hopkins University School of Medicine

Career Start Year 2012

Number of shared co-authors 9

Jessica X Chong

Brotman Baty Institute for Precision Medicine, University of Washington

Career Start Year 2011

Number of shared co-authors 15

Marta Girdea

DATA Team and Techna Institute, University Health Network

Career Start Year 2010

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 11

Orion J Buske

The Hospital for Sick Children

Career Start Year 2010

Number of shared co-authors 18

Taila Hartley

Children's Hospital of Eastern Ontario Research Institute

Career Start Year 2009

Number of shared co-authors 12

Catherine A Brownstein

Harvard Medical School.

Career Start Year 2008

Number of shared co-authors 13

Angela Del Pozo

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

Career Start Year 2008

Number of shared co-authors 2

David R Adams

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2007

Number of shared co-authors 10

Ali Torkamani

Scripps Science Institute

Career Start Year 2005

Number of shared co-authors 2

David T Miller

Boston Children's Hospital

Career Start Year 2005

Number of shared co-authors 8

Morris A Swertz

University of Groningen, University Medical Center Groningen

Career Start Year 2004

Number of shared co-authors 6

Murat Sincan

Boston University School of Public Health

Career Start Year 2004

Number of shared co-authors 6

Daniel Danis

Biomedical Research Center, Slovak Academy of Sciences

Career Start Year 2003

Number of shared co-authors 9

Anne O'Donnell-Luria

Broad Institute of MIT and Harvard

Career Start Year 2002

Number of shared co-authors 14

Dominik Seelow

Berliner Institut fur Gesundheitsforschung - Charite

Career Start Year 2002

Number of shared co-authors 10

Peter M Krawitz

Institute for Genomic Statistics and Bioinformatics, University of Bonn

Career Start Year 2001

Number of shared co-authors 9

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 11

Nicole L Washington

Renaissance Computing Institute, University of North Carolina

Career Start Year 1997

Number of shared co-authors 16

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 18

Fuki M Hisama

University of Washington

Career Start Year 1996

Number of shared co-authors 4

Wendy K Chung

Boston Children's Hospital, Harvard Medical School

Career Start Year 1993

Number of shared co-authors 14

Han G Brunner

Maastricht University Medical Centre

Career Start Year 1987

Number of shared co-authors 20

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 19

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 5

row(s) 1 - 30 of 30

Ada Hamosh

Johns Hopkins University School of Medicine

Co-authored papers 10

Joanna S Amberger

Johns Hopkins University School of Medicine

Co-authored papers 10

Alan F Scott

Johns Hopkins University School of Medicine

Co-authored papers 7

Helen V Firth

Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals

Co-authored papers 2

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 2

Sonja A Rasmussen

The Johns Hopkins University School of Medicine

Co-authored papers 2

David Valle

Johns Hopkins School of Medicine

Co-authored papers 2

Harry C Dietz

The Johns Hopkins University

Co-authored papers 1

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 1

Joann Bodurtha

Johns Hopkins McKusick-Nathans Department of Genetic Medicine

Co-authored papers 1

Fiona Cunningham

European Bioinformatics Institute

Co-authored papers 1

James S Ware

Co-authored papers 1

Erin M Ramos

National Human Genome Research Institute

Co-authored papers 1