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.
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Journal ArticleDOI
Comprehensive Pharmacogenetic Analysis of Irinotecan Neutropenia and Pharmacokinetics
Federico Innocenti,Deanna L. Kroetz,Erin G. Schuetz,M. Eileen Dolan,Jacqueline Ramírez,Mary V. Relling,Peixian Chen,Soma Das,Gary L. Rosner,Mark J. Ratain +9 more
TL;DR: Common polymorphisms in genes encoding for ABC and SLC transporters may have a significant impact on the pharmacokinetics and pharmacodynamics of CPT-11.
Journal ArticleDOI
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
Fanny Kortüm,Soma Das,Max Flindt,Deborah J. Morris-Rosendahl,Irina Stefanova,Amy Goldstein,Denise Horn,Eva Klopocki,Gerhard Kluger,P. Martin,Anita Rauch,Anita Rauch,Agathe Roumer,Sulagna C. Saitta,Laurence E. Walsh,Dagmar Wieczorek,Gökhan Uyanik,Gökhan Uyanik,Kerstin Kutsche,William B. Dobyns +19 more
TL;DR: While the phenotype of the patients overlaps both classic and congenital Rett syndrome, extensive clinical evaluation demonstrates a distinctive and clinically recognisable phenotype which the authors suggest designating as the FOXG1 syndrome.
Journal ArticleDOI
Pharmacogenetics of outcome in children with acute lymphoblastic leukemia
Jose Claudio C. Rocha,Cheng Cheng,Cheng Cheng,Wei Liu,Wei Liu,Shinji Kishi,Shinji Kishi,Soma Das,Soma Das,Edwin H. Cook,Edwin H. Cook,John T. Sandlund,John T. Sandlund,Jeffrey E. Rubnitz,Jeffrey E. Rubnitz,Raul C. Ribeiro,Raul C. Ribeiro,Dario Campana,Dario Campana,Ching-Hon Pui,Ching-Hon Pui,William E. Evans,William E. Evans,Mary V. Relling,Mary V. Relling +24 more
TL;DR: Patients in the HR group with the glutathione S-transferase non-null genotype had greater risk of hematologic relapse, which was further increased by the thymidylate synthetase 3/3 genotype, and these genotypes remained predictive in multivariate analyses.
Journal ArticleDOI
Clinical Laboratories Collaborate to Resolve Differences in Variant Interpretations Submitted to ClinVar
Steven M. Harrison,Steven M. Harrison,Jill S. Dolinsky,Amy E. Knight Johnson,Tina Pesaran,Danielle R. Azzariti,Sherri J. Bale,Elizabeth C. Chao,Soma Das,Lisa M. Vincent,Heidi L. Rehm +10 more
TL;DR: Participating laboratories increased their overall concordance from 88.3 to 91.7%, indicating that sharing variant interpretations in ClinVar—thereby allowing identification of differences and motivation to resolve those differences—is critical to moving toward more consistent variant interpretations.
Journal ArticleDOI
BRCA1 promoter methylation in sporadic breast cancer is associated with reduced BRCA1 copy number and chromosome 17 aneusomy.
Minjie Wei,Tatyana A. Grushko,James J. Dignam,Fitsum Hagos,Rita Nanda,Lise Sveen,Jinhua Xu,James D. Fackenthal,Maria Tretiakova,Soma Das,Olufunmilayo I. Olopade +10 more
TL;DR: The data support a model of carcinogenesis in which BRCA1 promoter methylation may serve as a "first hit," much like an inherited germ line mutation, and promote tumor progression down a restricted set of molecular pathways.