Skip to Main Content

Author Details

Bridget C O'Connor
University of Michigan ann arbor
2009
11
5
PMIDPaper TitleJournal TitlePublished Year
36748709Practical considerations for reinterpretation of individual genetic variants.Genet Med2023
35767006Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines.Genet Med2022
33118289Knowledge and attitudes about genetic counseling in patients at a major hospital in Addis Ababa, Ethiopia.J Genet Couns2021
34297771The introduction of genetic counseling in Ethiopia: Results of a training workshop and lessons learned.PLoS One2021
31618753Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.Pediatr Res2020
30872706Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model.Sci Rep2019
31469212Primary care physicians' understanding and utilization of pediatric exome sequencing results.J Genet Couns2019
30189268High-throughput gene expression analysis identifies p53-dependent and -independent pathways contributing to the adrenocortical dysplasia (acd) phenotype.Gene2018
27631024<i>PIK3CA</i>-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.JCI Insight2016
22038471Additive effect of TAp63 deficiency on the adrenocortical dysplasia (acd) phenotype.Mamm Genome2011
19660449Caudal regression in adrenocortical dysplasia (acd) mice is caused by telomere dysfunction with subsequent p53-dependent apoptosis.Dev Biol2009
  • 1 - 11 of 11

Recommended Authors

Jessica Giordano
Columbia University Irving Medical Center
Career Start Year 2015
Number of shared co-authors 4
Margaret Harr
Center for Applied Genomics, Children's Hospital of Philadelphia
Career Start Year 2013
Number of shared co-authors 7
Kandamurugu Manickam
Nationwide Children's Hospital, The Ohio State University College of Medicine
Career Start Year 2010
Number of shared co-authors 0
Gareth Baynam
King Edward Memorial Hospital
Career Start Year 2006
Number of shared co-authors 2
Michele Nehrebecky
National Human Genome Research Institute, National Institutes of Health (NIH)
Career Start Year 2003
Number of shared co-authors 0
Heidi Cope
GenOmics and Translational Research Center
Career Start Year 2002
Number of shared co-authors 1
Zornitza Stark
Murdoch Children's Research Institute
Career Start Year 2001
Number of shared co-authors 3
Jonathan A Bernstein
Stanford University
Career Start Year 2000
Number of shared co-authors 10
Tony Roscioli
Prince of Wales Hospital
Career Start Year 2000
Number of shared co-authors 5
Linlea Armstrong
University of British Columbia
Career Start Year 1997
Number of shared co-authors 3
Vernon R Sutton
Baylor College of Medicine
Career Start Year 1997
Number of shared co-authors 5
Ian D Krantz
Children's Hospital of Philadelphia
Career Start Year 1996
Number of shared co-authors 9
Anne Slavotinek
Cincinnati Children's Hospital Medical Center
Career Start Year 1993
Number of shared co-authors 8
Shehla Mohammed
Guy's and St Thomas' NHS Foundation Trust
Career Start Year 1992
Number of shared co-authors 4
Edward J Lose
The University of Alabama at Birmingham School of Medicine
Career Start Year 1991
Number of shared co-authors 3
Nicola K Poplawski
Royal Adelaide Hospital
Career Start Year 1990
Number of shared co-authors 0
Helen V Firth
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Career Start Year 1990
Number of shared co-authors 3
Michael J Bamshad
University of Washington
Career Start Year 1989
Number of shared co-authors 12
Sylvie Langlois
Research Center, Centre Hospitalier Universitaire Sainte-Justine
Career Start Year 1987
Number of shared co-authors 0
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Career Start Year 1987
Number of shared co-authors 13
Kathleen A Leppig
Kaiser Permanente Washington
Career Start Year 1987
Number of shared co-authors 12
David Bick
Genomics England Ltd.
Career Start Year 1987
Number of shared co-authors 1
Bruce D Gelb
Icahn School of Medicine at Mount Sinai
Career Start Year 1985
Number of shared co-authors 6
Marc S Williams
University of Washington Medical Center
Career Start Year 1985
Number of shared co-authors 11
David R FitzPatrick
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Career Start Year 1984
Number of shared co-authors 4
Sharon E Plon
Baylor College of Medicine
Career Start Year 1982
Number of shared co-authors 8
John W Belmont
Baylor College of Medicine
Career Start Year 1979
Number of shared co-authors 4
Vickie Hannig
Vanderbilt University Medical Center
Career Start Year 1978
Number of shared co-authors 4
Joann Bodurtha
Johns Hopkins McKusick-Nathans Department of Genetic Medicine
Career Start Year 1974
Number of shared co-authors 3
John J Mulvihill
University of Oklahoma
Career Start Year 1968
Number of shared co-authors 5

Collaborators

Donna M Martin
University of Michigan ann arbor
Co-authored papers 3
Sara M Berger
Columbia University Irving Medical Center
Co-authored papers 2
Elly Brokamp
Vanderbilt Genetics Institute, Vanderbilt University Medical Center
Co-authored papers 2
Paul S Appelbaum
Center for Law, Columbia University Irving Medical Center
Co-authored papers 2
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 2
Rizwan Hamid
Vanderbilt University Medical Center
Co-authored papers 2
Ghayda M Mirzaa
Seattle Children's Hospital.
Co-authored papers 1
E Clayton
Harvard Medical School, Vanderbilt University, Yale University Yale Law School
Co-authored papers 1
John Rowe
Mailman School of Public Health, Columbia University
Co-authored papers 1
Martin Kircher
Berlin Institute of Health (BIH) at Charite-Universitatsmedizin Berlin
Co-authored papers 1
Wylie Burke
The Heart Institute, Cincinnati Children's Hospital Medical Center
Co-authored papers 1
Luigi Boccuto
Co-authored papers 1
Barbara J Evans
Levin College of Law, University of Florida, FL Wertheim College of Engineering
Co-authored papers 1
Charles E Schwartz
Co-authored papers 1
Jessica L Roberts
Health Law & Policy Institute, University of Houston Law Center
Co-authored papers 1
Colin C Pritchard
University of Washington, USA Brotman Baty Institute for Precision Medicine
Co-authored papers 1
John Schneider
Avalon Health Economics LLC
Co-authored papers 1
Karolynn Siegel
Mailman School of Public Health, Columbia University Irving Medical Center
Co-authored papers 1
Fiona Stewart
Belfast City Hospital
Co-authored papers 1
William B Dobyns
University of Minnesota
Co-authored papers 1
Gary E Marchant
Center for Law, Arizona State University
Co-authored papers 1
Erik Parens
Co-authored papers 1
David L Veenstra
University of Washington
Co-authored papers 1
Julia Wynn
Vagelos College of Physicians and Surgeons, Columbia University
Co-authored papers 1
John A Bernat
University of Iowa Hospitals and Clinics
Co-authored papers 1
Jay Shendure
University of Washington
Co-authored papers 1
Kenjiro Kosaki
Center for Medical Genetics, Keio University School of Medicine
Co-authored papers 1
Jos?? A Pag??n
New York University
Co-authored papers 1
Andrew E Timms
Center for Integrative Brain Research, Seattle Children's Research Institute
Co-authored papers 1
Release 1.2