StephenFKingsmoreMDChB BAO DSc FRCPath

President and CEO, Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA

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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.

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, 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

Observational Study of Sepsis and Pneumonia to Develop Diagnostic Tests Start of enrollment: 2005 Dec 01
Unknown status
Genomic Sequencing in Acutely Ill Neonates Start of enrollment: 2014 Oct 01
Completed
Not Applicable
Rady Children's Institute Genomic Biorepository Start of enrollment: 2016 Jul 01
Recruiting
Not Applicable
Perinatal Precision Medicine Start of enrollment: 2017 Jun 29
Active, not recruiting
Not Applicable
Rapid Whole Genome Sequencing Study Start of enrollment: 2017 Aug 29
Enrolling by invitation
Not Applicable
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PubMed

1 citations
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C Jones
American Journal of Medical Genetics. Part A. 2023-04-01
9 citations
Are we prepared to deliver gene-targeted therapies for rare diseases?
Timothy W Yu, Stephen F Kingsmore, Robert C Green, Tippi MacKenzie, Melissa Wasserstein
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2023-03-01
12 citations
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots.
Yan Ding, Mallory Owen, Jennie Le, Sergey Batalov, Kevin Chau
NPJ Genomic Medicine. 2023-02-14

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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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