S
Soma Das
Researcher at University of Chicago
Publications - 162
Citations - 29990
Soma Das is an academic researcher from University of Chicago. The author has contributed to research in topics: Gene & Exome sequencing. The author has an hindex of 55, co-authored 160 publications receiving 22523 citations. Previous affiliations of Soma Das include University of Illinois at Chicago & NorthShore University HealthSystem.
Papers
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Journal ArticleDOI
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.
Gorka Alkorta-Aranburu,David Carmody,Y.W. Cheng,Viswateja Nelakuditi,L. Ma,Jazzmyne T. Dickens,Soma Das,Siri Atma W. Greeley,Daniela del Gaudio +8 more
TL;DR: A targeted next-generation sequencing assay for the detection of mutations in 36 genes known to cause monogenic forms of diabetes, including transient or permanent neonatal diabetes mellitus (TNDM or PNDM), maturity-onset diabetes of the young (MODY) and rare syndromic forms ofabetes.
Journal ArticleDOI
Exome Sequencing and the Genetics of Intellectual Disability
TL;DR: Topper S, Ober C, Das S. Exome sequencing and the genetics of intellectual disability: Causes and treatments.
Journal ArticleDOI
Novel Functional Germline Variants in the VEGF Receptor 2 Gene and Their Effect on Gene Expression and Microvessel Density in Lung Cancer
Dylan M. Glubb,Elisa Cerri,Alexandra Giese,Wei Zhang,Osman Mirza,Emma E. Thompson,Peixian Chen,Soma Das,Jacek Jassem,Witold Rzyman,Mark W. Lingen,Ravi Salgia,Fred R. Hirsch,Rafal Dziadziuszko,Kurt Ballmer-Hofer,Federico Innocenti +15 more
TL;DR: KDR genetic variation in 3 populations is defined and common variants that impact on tumoral KDR expression and vascularization are identified and may have important implications for understanding the molecular basis of genetic associations between KDR variation and clinical phenotypes related to VEGFR-2 function.
Journal ArticleDOI
Genetic variants contributing to daunorubicin-induced cytotoxicity
R. Stephanie Huang,Shiwei Duan,Emily O. Kistner,Wasim K. Bleibel,Shannon M. Delaney,Donna Lee Fackenthal,Soma Das,M. Eileen Dolan +7 more
TL;DR: A genome-wide model using International HapMap cell lines that integrate genotype and gene expression to identify genetic variants that contribute to daunorubicin-induced cytotoxicity is presented and can be used to elucidate genetic variants contributing to a wide range of cellular phenotypes.
Journal ArticleDOI
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
TL;DR: In this paper, mutations detected in 50 additional U.S. families with biopsy-proven X-linked myotubular myopathy (MTM1) were identified.