David Blair • UCSF Profiles

David Blair, MD, PhD

Title(s)	Assistant Professor, Pediatrics
School	School of Medicine
Address	550 16th Street, #4301 San Francisco CA 94158
Phone	415-476-5001
ORCID	0000-0002-7455-6488
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Biography

Education and Training

University of Michigan, Ann Arbor, MI	BS	04/2008	Molecular, Cell, and Developmental Biology
University of Chicago, Chicago, IL	PhD	08/2014	Genetics, Genomics, and Systems Biology
University of Chicago, Chicago, IL	MD	06/2017
UCSF, San Francisco, CA		06/2020	Pediatrics
UCSF, San Francisco, CA		06/2022	Medical Genetics and Genomics

Awards and Honors

American Society of Human Genetics

2020

Charles J. Epstein Trainee Award for Excellence in Human Genetics Research

Overview

David Blair, MD PhD is a pediatrician, clinical geneticist, and physician scientist. His research uses population-scale datasets and statistical modeling to analyze the phenotypic diversity observed among patients with rare, genetic disorders. The goal of this work is to reduce diagnostic uncertainty, improve disease-related surveillance, and alter management practices.

Interests

Genetics, Genomics, Bioinformatics, Machine Learning, Statistics, Data Science

Research

Research Activities and Funding

Investigating the Genotype-Phenotype Relationships that Underlie Congenital Disorders with Cardiovascular Symptoms through Population-scale Analyses
NHLBI K38HL164956-01Aug 1, 2023 - Jul 31, 2024
Role: Principal Investigator

Investigating the Phenotypic Variability of Collagen Type IV Vascular Disease Using Population-scale Data
American Heart Association 23CDA1045330Apr 1, 2023 - Mar 31, 2026
Role: Principal Investigator

Resolving Diagnostic Uncertainty in Marfan Syndrome Using Real-World Clinical Data
George Banks and Sarah Ellen Huntington Memorial Fund UCSF REACJan 1, 2023 - Dec 31, 2023
Role: Principal Investigator

ORNG Applications

Clinical Trials

Bibliographic

Publications

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.

Altmetrics Details

PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.

KCNK4-related channelopathy causing a neurodevelopmental syndrome. BMJ Case Rep. 2023 11 06; 16(11). Garg R, Sullivan J, Blair D, Wallerstein R. PMID: 37931962; PMCID: PMC10632805.

View in: PubMed Mentions: Fields:
Med Medicine (General)
Translation:Humans
Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency. Ophthalmic Genet. 2023 10; 44(5):486-490. Stallworth JY, Blair DR, Slavotinek A, Moore AT, Duncan JL, de Alba Campomanes AG. PMID: 36420660; PMCID: PMC10205914.

View in: PubMed Mentions: 3 Fields:
Gen Genetics Oph Ophthalmology
Translation:Humans
Current and new therapies for mucopolysaccharidoses. Pediatr Neonatol. 2023 02; 64 Suppl 1:S10-S17. Penon-Portmann M, Blair DR, Harmatz P. PMID: 36464587.

View in: PubMed Mentions: 10 Fields:
Ped Pediatrics
Translation:Humans
Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype. Am J Med Genet A. 2022 09; 188(9):2724-2731. Galarreta CI, Kennedy C, Blair DR, Slavotinek A. PMID: 35770347.

View in: PubMed Mentions: Fields:
Gen Genetics
Translation:Humans
Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis. Nat Commun. 2022 06 27; 13(1):3675. Blair DR, Hoffmann TJ, Shieh JT. PMID: 35760791; PMCID: PMC9237040.

View in: PubMed Mentions: 3 Fields:
Bio Biology Sci Science
Human Embryonic Expression Identifies Novel Essential Gene Candidates. bioRxiv. 2020. Penon-Portmann M, Chang J, Blair DR, Rodriguez-Alonso B, Cakmak H, Rajkovic A, Shieh JT. View Publication.
Estimating heritability and genetic correlations from large health datasets in the absence of genetic data. Nat Commun. 2019 12 03; 10(1):5508. Jia G, Li Y, Zhang H, Chattopadhyay I, Boeck Jensen A, Blair DR, Davis L, Robinson PN, Dahlén T, Brunak S, Benson M, Edgren G, Cox NJ, Gao X, Rzhetsky A. PMID: 31796735; PMCID: PMC6890770.

View in: PubMed Mentions: 9 Fields:
Bio Biology Sci Science
Translation:Humans
Quantifying the impact and extent of undocumented biomedical synonymy. PLoS Comput Biol. 2014 Sep; 10(9):e1003799. Blair DR, Wang K, Nestorov S, Evans JA, Rzhetsky A. PMID: 25255227; PMCID: PMC4177665.

View in: PubMed Mentions: 5 Fields:
Com Computational Biology
Translation:Humans
A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk. Cell. 2013 Sep 26; 155(1):70-80. Blair DR, Lyttle CS, Mortensen JM, Bearden CF, Jensen AB, Khiabanian H, Melamed R, Rabadan R, Bernstam EV, Brunak S, Jensen LJ, Nicolae D, Shah NH, Grossman RL, Cox NJ, White KP, Rzhetsky A. PMID: 24074861; PMCID: PMC3844554.

View in: PubMed Mentions: 119 Fields:
Cel Cell Biology
Translation:Humans
A myosin II ATPase inhibitor reduces force production, glucose transport, and phosphorylation of AMPK and TBC1D1 in electrically stimulated rat skeletal muscle. Am J Physiol Endocrinol Metab. 2009 May; 296(5):E993-E1002. Blair DR, Funai K, Schweitzer GG, Cartee GD. PMID: 19190254; PMCID: PMC2681314.

View in: PubMed Mentions: 11 Fields:
End Endocrinology Met Metabolism Phy Physiology
Translation:Animals Cells