Dr. Kingsmore is on Doximity
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Office
Rady Children's Hospital
3020 Children's Way
San Diego, CA 92123- Is this information wrong?
Summary
- My career focus is on implementing precision/genomic medicine in children with genetic diseases. This entails development of tools and technologies for genome interpretation, genomic diagnosis and clinical decision support, and performance of clinical trials of genomic medicine protocols. I have had a wide variety of research experiences in positions of varying responsibility and have had a continuous track record of funding and publication productivity. I spend a considerable proportion of my time currently training and mentoring students and junior faculty members and integrating them into multidisciplinary research teams where they can exert significant impact by virtue of their unique skills.
Education & Training
Queens University BelfastD.Sc., Molecular Medicine, 2011- Royal College of PathologistsF.R.C. Path., Molecular Genetics, 2011
Duke University HospitalFellowship, Rheumatology, 1993 - 1994- Duke University HospitalResidency, Internal Medicine, 1991 - 1993
- Duke University HospitalInternship, Internal Medicine, 1990 - 1991
- Duke University HospitalPost-Doctoral Fellowship, Human Genetics, 1988 - 1990
- Royal Victoria HospitalSenior House Officer, Immunology, 1986 - 1988
- Craigavon Area HospitalJunior House Officer, 1985 - 1986
Queen's University of Belfast COMClass of 1985
Queen's University Belfast Faculty of MedicineClass of 1985, MB ChB BAO BSc, 1st class hons BSc, Distinction in Midwifery and Gynecology
Clinical Trials
- Observational Study of Sepsis and Pneumonia to Develop Diagnostic Tests Start of enrollment: 2005 Dec 01
- Genomic Sequencing in Acutely Ill Neonates Start of enrollment: 2014 Oct 01
- Rady Children's Institute Genomic Biorepository Start of enrollment: 2016 Jul 01
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Publications & Presentations
PubMed
- 7 citationsMaternal, infant, and environmental risk factors for sudden unexpected infant deaths: results from a large, administrative cohort.Gretchen Bandoli, Rebecca J. Baer, Mallory J Owen, Elizabeth Kiernan, Laura L. Jelliffe-Pawlowski, Stephen F. Kingsmore, Christina D. Chambers> ;The Journal of Maternal-Fetal & Neonatal Medicine. 2021 Dec 1
- 36 citationsArtificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.Francisco M. De La Vega, Shimul Chowdhury, Barry Moore, Erwin Frise, Jeanette McCarthy, Edgar Javier Hernandez, Terence C. Wong, Kiely N. James, Lucia Guidugli, Pankaj...> ;Genome Medicine. 2021 Oct 14
- 10 citationsIntegrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birthJohanna M. Huusko, Heli Tiensuu, Antti M. Haapalainen, Anu Pasanen, Pinja Tissarinen, Minna K. Karjalainen, Ge Zhang, Kaare Christensen, Kelli K. Ryckman, Bo Jacobsson...> ;Scientific Reports. 2021 Aug 24
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Press Mentions
- Tackling Rare Diseases in 2023April 12th, 2023
- England’s National Health Service to Offer Widespread Rapid Whole Genome Sequencing for Children and BabiesMarch 13th, 2023
- It Takes an Average of 8 Years for a Rare Disease Patient to Get Diagnosed. Why Is It so Hard to Get Life-Altering Genetic Testing in the U.S.?March 1st, 2023
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Grant Support
- Identification Of Common And Uncommon Gene Variants In PBCNational Institute Of Diabetes And Digestive And Kidney Diseases2011
- Plasma Protein Biomarker-Based Diagnostics Of Outcome In Sepsis And CAPNational Institute Of Allergy And Infectious Diseases2007–2010
- Plasma Protein Biomarker-Based Diagnostics Of Outcome I*National Institute Of Allergy And Infectious Diseases2006
- Plasma Protein Biomarker-Based Diagnostics Of Outcome InNational Institute Of Allergy And Infectious Diseases2005
- Biomarker CHIP For OsteoarthritisNational Institute Of Arthritis And Musculoskeletal And Skin Diseases2002
- Positional Cloning Of The SLE Genes Sle1, Sle2, And Sle3National Institute Of Allergy And Infectious Diseases1996–1999
- Positional Cloning Of The SLE Genes Sle1, Sle2, And Sle3National Institute Of Allergy And Infectious Diseases1996–1998
- Isolation Of The Chediak Higashi Immune Deficiency GeneNational Institute Of Allergy And Infectious Diseases1996–1997
Hospital Affiliations
Rady Children's Hospital - San DiegoSan Diego, California
External Links
- Rady Children's Institute for Genomic Medicinehttp://www.radygenomics.org
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