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
More filters
Journal ArticleDOI
Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.
Wendy P. Robinson,Susan L. Christian,Brian D. Kuchinka,Maria S. Peñaherrera,Soma Das,Simone Schuffenhauer,Susan Malcolm,Albert Schinzel,Terry J. Hassold,David H. Ledbetter +9 more
TL;DR: Theorigin of the extra chromosome 15 was determined in 21 AS patients with paternal UPD15 with a paternal origin of the trisomy, providing indirect evidence that a post‐zygotic error is also typically involved in loss of the paternal chromosome.
Journal ArticleDOI
Platinum sensitivity-related germline polymorphism discovered via a cell-based approach and analysis of its association with outcome in ovarian cancer patients
R. Stephanie Huang,Sharon E. Johnatty,Eric R. Gamazon,Hae Kyung Im,Dana Ziliak,Shiwei Duan,Wei Zhang,Emily O. Kistner,Peixian Chen,Jonathan Beesley,Shuangli Mi,Peter H. O'Donnell,Yarden S. Fraiman,Soma Das,Nancy J. Cox,Yi Lu,Stuart MacGregor,Ellen L. Goode,Robert A. Vierkant,Brooke L. Fridley,Estrid Høgdall,Susanne K. Kjaer,Allan Jensen,Kirsten B. Moysich,Matthew Grasela,Kunle Odunsi,Robert S. Brown,James Paul,Diether Lambrechts,Evelyn Despierre,Ignace Vergote,Jenny Gross,Beth Y. Karlan,Anna deFazio,Georgia Chenevix-Trench,M. Eileen Dolan +35 more
TL;DR: This study shows the potential of cell-based, genome-wide approaches to identify germline predictors of treatment outcome and highlights the need for extensive validation in patients to assess their clinical effect.
Journal ArticleDOI
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Miao Sun,Amy K. Johnson,Viswateja Nelakuditi,Lucia Guidugli,David Fischer,Kelly Arndt,Lan Ma,Erin Sandford,Vikram G. Shakkottai,Kym M. Boycott,Jodi Warman Chardon,Jodi Warman Chardon,Zejuan Li,Daniela del Gaudio,Margit Burmeister,Christopher M. Gomez,Darrel Waggoner,Soma Das +17 more
TL;DR: Exome sequencing with targeted analysis provides a high-yield approach for the genetic diagnosis of ataxia-related conditions and represents patients with a wide range of atAXia phenotypes typically encountered in neurology and genetics clinics.
Journal ArticleDOI
Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
Renzo Guerrini,Francesca Moro,Eva Andermann,Elaine Hughes,D D'Agostino,Romeo Carrozzo,Andrea Bernasconi,Frances Flinter,Lucio Parmeggiani,Anna Volzone,Elena Parrini,Davide Mei,Jozef Jarosz,Robin G. Morris,Polly Pratt,Gaetano Tortorella,François Dubeau,Frederick Andermann,William B. Dobyns,Soma Das +19 more
TL;DR: Four families in which carrier women had normal brain magnetic resonance imaging and mild mental retardation and carrier women with normal MRI showed no somatic mosaicism or altered X‐inactivation in lymphocytes, suggesting a correlation between mild mutations and phenotypes.
Journal ArticleDOI
UGT1A1 polymorphism and hyperbilirubinemia in a patient who received sorafenib
Judith Meza-Junco,Quincy Chu,Olaf Christensen,Prabhu Rajagopalan,Soma Das,Ruslan Stefanyschyn,Michael B. Sawyer +6 more
TL;DR: When patients develop hyperbilirubinemia while taking sorafenib for any indication, consideration be given to obtaining a fractionation of bilirubin and consideration of UGT1A1 genotyping in order to exclude a Gilbert's syndrome as possible reason for the hyperbilrubinemia.