Aditi Gupta

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Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia

Benjamin L. Lampson,Aditi Gupta,Svitlana Tyekucheva,Kiyomi Mashima,Anna Petrackova,Zixu Wang, Natalia Wojciechowska,Conner J. Shaughnessy,Peter O. Baker,Stacey M. Fernandes,Samantha Shupe,John-Hanson Machado,Rayan Fardoun,Annette S. Kim,Jennifer R. Brown

JOURNAL OF CLINICAL ONCOLOGY（2023）

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Impact of Integrated Translational Research on Clinical Exome Sequencing (vol 23, Pg 498, 2021)

Eric W. Klee,Margot A. Cousin, Filippo Pinto e Vairo, Joel A. Morales-Rosado,Erica L. Macke,W. Garrett Jenkinson,Alejandro Ferrer,Laura E. Schultz-Rogers,Rory J. Olson,Gavin R. Oliver,Ashley N. Sigafoos,Tanya L. Schwab, Michael T. Zimmermann,Raul A. Urrutia,Charu Kaiwar,Aditi Gupta, Patrick R. Blackburn,Nicole J. Boczek,Carri A. Prochnow, Rebecca J. Lowy,Lindsay A. Mulvihill,Tammy M. McAllister,Stacy L. Aoudia,Teresa M. Kruisselbrink,Lauren B. Gunderson,Jennifer L. Kemppainen, Laura J. Fisher,Jessica M. Tarnowski,Megan M. Hager,Sarah A. Kroc,Nicole L. Bertsch,Katherine E. Agre,Jessica L. Jackson, Sarah K. Macklin-Mantia, Marine I. Murphree,Laura M. Rust, Jolene M. Summer Bolster,Scott A. Beck,Paldeep S. Atwal,Marissa S. Ellingson,Sarah S. Barnett,Kristen J. Rasmussen,Carrie A. Lahner,Zhiyv Niu,Linda Hasadsri,Matthew J. Ferber,Cherisse A. Marcou, Karl J. Clark,Pavel N. Pichurin,David R. Deyle,Eva Morava-Kozicz, Ralitza H. Gavrilova, Radhika Dhamija,Klaas J. Wierenga,Brendan C. Lanpher, Dusica Babovic-Vuksanovic,Gianrico Farrugia, Lisa A. Schimmenti,A. Keith Stewart, Konstantinos N. Lazaridis

GENETICS IN MEDICINEno. 2 (2023)

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Impact of Integrated Translational Research on Clinical Exome Sequencing

Eric W. Klee,Margot A. Cousin,Filippo Pinto e Vairo,Joel A. Morales-Rosado,Erica L. Macke,W. Garrett Jenkinson,Alejandro Ferrer,Laura E. Schultz-Rogers,Rory J. Olson,Gavin R. Oliver,Ashley N. Sigafoos,Tanya L. Schwab,Michael T. Zimmermann,Raul A. Urrutia,Charu Kaiwar,Aditi Gupta,Patrick R. Blackburn,Nicole J. Boczek,Carri A. Prochnow, Rebecca J. Lowy,Lindsay A. Mulvihill,Tammy M. McAllister,Stacy L. Aoudia,Teresa M. Kruisselbrink,Lauren B. Gunderson,Jennifer L. Kemppainen, Laura J. Fisher,Jessica M. Tarnowski,Megan M. Hager,Sarah A. Kroc,Nicole L. Bertsch,Katherine E. Agre,Jessica L. Jackson,Sarah K. Macklin-Mantia,Marine Murphree,Laura M. Rust, Jolene M. Summer Bolster,Scott A. Beck,Paldeep S. Atwal,Marissa S. Ellingson,Sarah S. Barnett,Kristen J. Rasmussen,Carrie A. Lahner,Zhiyv Niu,Linda Hasadsri,Matthew J. Ferber,Cherisse A. Marcou,Karl J. Clark,Pavel N. Pichurin,David R. Deyle,Eva Morava-Kozicz,Ralitza H. Gavrilova,Radhika Dhamija,Klaas J. Wierenga,Brendan C. Lanpher,Dusica Babovic-Vuksanovic,Gianrico Farrugia,Lisa A. Schimmenti,A. Keith Stewart,Konstantinos N. Lazaridis

Genetics in medicine（2023）

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P599: rare germline variants in atm influence the pathogenesis of cll

B. L. Lampson,A. Gupta,S. Tyekucheva,Z. Wang, N. Wojciechowska, C. J. Shaughnessy, P. O. Baker,S. M. Fernandes,A. S. Kim, J. R. Brown

HemaSphere（2022）

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De Novo Variants of NR4A2 Are Associated with Neurodevelopmental Disorder and Epilepsy

Sakshi Singh,Aditi Gupta,Michael Zech,Ashley N. Sigafoos,Karl J. Clark,Yasemin Dincer,Matias Wagner,Jennifer B. Humberson, Sarah Green,Koen van Gassen,Tracy Brandt,Rhonda E. Schnur,Francisca Millan,Yue Si,Volker Mall,Juliane Winkelmann,Ralitza H. Gavrilova,Eric W. Klee,Kendra Engleman,Nicole P. Safina, Rachel Slaugh, Emily M. Bryant, Wen-Hann Tan, Jorge Granadillo, Sunita N. Misra, G. Bradley Schaefer, Shelley Towner, Eva H. Brilstra, Bobby P. C. Koeleman

Genetics in medicine（2020）

引用9浏览0WOS引用

A Novel Missense Variant and Multiexon Deletion Causing a Delayed Presentation of Xeroderma Pigmentosum, Group C

Erica L. Macke,Joel A. Morales-Rosado,Aditi Gupta,Christopher T. Schmitz,Teresa Kruisselbrink,Brendan Lanpher,Eric W. Klee

Molecular Case Studies（2020）

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Developmental Delay, Coarse Facial Features, and Epilepsy in a Patient with EXT2 Gene Variants

Aditi Gupta,Sarah A. Ewing,Deborah L. Renaud,Linda Hasadsri,Kimiyo M. Raymond,Eric W. Klee,Ralitza H. Gavrilova

Clinical case reports（2019）

引用4浏览0WOS引用

Molecular Characterization of Known and Novel ACVR1 Variants in Phenotypes of Aberrant Ossification

Aditi Gupta,Michael T. Zimmermann,Haitao Wang,Stephen M. Broski,Ashley N. Sigafoos,Sarah K. Macklin,Raul A. Urrutia,Karl J. Clark,Paldeep S. Atwal,Robert J. Pignolo,Eric W. Klee

American journal of medical genetics Part A（2019）

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论文共 16 篇作者统计合作学者相似作者