Keck School Faculty

Adam de Smith
Adam de Smith
Assistant Professor Of Clinical Preventive Medicine
Center for Genetic Epidemiology
1450 Biggy Street Health Sciences Campus Los Angeles

Non-additive and epistatic effects of HLA polymorphisms contributing to risk of adult glioma J Neurooncol. 2017 Nov; 135(2):237-244. . View in PubMed

Cortical Lewy bodies and Aß burden are associated with prevalence and timing of dementia in Lewy body diseases Neuropathol Appl Neurobiol. 2016 08; 42(5):436-50. . View in PubMed

PDGFRa demarcates the cardiogenic clonogenic Sca1+ stem/progenitor cell in adult murine myocardium Nat Commun. 2015 May 18; 6:6930. . View in PubMed

Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion Hum Mol Genet. 2014 May 01; 23(9):2364-73. . View in PubMed

Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity PLoS One. 2013; 8(3):e58048. . View in PubMed

Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity Hum Mol Genet. 2012 Aug 15; 21(16):3727-38. . View in PubMed

Accurate single-nucleotide polymorphism allele assignment in trisomic or duplicated regions by using a single base-extension assay with MALDI-TOF mass spectrometry Clin Chem. 2011 Aug; 57(8):1188-95. . View in PubMed

Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly Nat Biotechnol. 2011 Jul 24; 29(8):723-30. . View in PubMed

Investigation of the HIN200 locus in UK SLE families identifies novel copy number variants Ann Hum Genet. 2011 May; 75(3):383-97. . View in PubMed

Chromosome 19p133 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems. Am J Med Genet A. 2011 May; 155A(5):1192-5. . View in PubMed

Implications of copy number variation in people with chromosomal abnormalities: potential for greater variation in copy number state may contribute to variability of phenotype Hugo J. 2010 Dec; 4(1-4):1-9. . View in PubMed

cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs Nat Methods. 2010 Jul; 7(7):541-6. . View in PubMed

A new highly penetrant form of obesity due to deletions on chromosome 16p112. Nature. 2010 Feb 04; 463(7281):671-5. . View in PubMed

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism Hum Mol Genet. 2009 Sep 01; 18(17):3257-65. . View in PubMed

Small deletion variants have stable breakpoints commonly associated with alu elements PLoS One. 2008 Aug 29; 3(8):e3104. . View in PubMed

Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease Cytogenet Genome Res. 2008; 123(1-4):17-26. . View in PubMed

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases Hum Mol Genet. 2007 Dec 01; 16(23):2783-94. . View in PubMed

FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity Nat Genet. 2007 Jun; 39(6):721-3. . View in PubMed

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