Ministry of Education
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Dr Aditi Gupta, PhD

vidwan id: 502224
Female

Assistant Professor,
Kasturba Medical College, Manipal University

Orchid Icon 0000-0003-3647-8148 Google Scholar Icon 56321830700 Researcher Icon KIK-8183-2024 Google Scholar Icon 1fnxbGoAAAAJ

Expertise

  • Genetics and Heredity

Publications

Total Articles 15
Books 0
Proceedings 0

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Bio

I am a researcher in the field of human genetics and medical genomics.

Personal Details

  • Female
  • Assistant Professor , Kasturba Medical College, Manipal University
  • Kasturba Medical College, MAHE
PhD
University of Delhi 2016
Assistant Professor Aug 2023 – Present
Kasturba Medical College, Manipal University

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Scholarly Work

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Scholarly Publications

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.

Open Access
Year: 0000. Volume: 12 , Issue: 2723-2733 .
Authors: DDD Study, Sticht H, Gregor A, Van Esch H, Zweier C;

Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism

Open Access
Year: 0000. Volume: 4 , Issue: 103817 .
Authors: Gupta, Aditi; Dsouza, Nikita R; Zarate, Yuri A; Lombardo, Rachel; Hopkin, Robert; Linehan, Allison R; Simpson, Jamela; McCarrier, Julie; Agre, Katherine E; Gavrilova, Ralitza H;

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

Open Access
Year: 0000. Volume: 8 , Issue: 1413-1417 .
Authors: Singh, Sakshi; Gupta, Aditi; Zech, Michael; Sigafoos, Ashley N; Clark, Karl J; Dincer, Yasemin; Wagner, Matias; Humberson, Jennifer B; Green, Sarah; van Gassen, Koen;

A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C

Open Access
Year: 0000. Volume: 4 , Issue: a005165 .
Authors: Macke, Erica L; Morales-Rosado, Joel A; Gupta, Aditi; Schmitz, Christopher T; Kruisselbrink, Teresa; Lanpher, Brendan; Klee, Eric W;

Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia

Open Access
Year: 0000. Volume: 5 , Issue: 1116-1129 .
Authors: Benjamin L Lampson, Aditi Gupta, Svitlana Tyekucheva, Kiyomi Mashima, Anna Petráčková, 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

Impact of integrated translational research on clinical exome sequencing

Open Access
Year: 0000. Volume: 3 , Issue: 498-507 .
Authors: Klee, Eric W; Cousin, Margot A; Pinto e Vairo, Filippo; Morales-Rosado, Joel A; Macke, Erica L; Jenkinson, W Garrett; Ferrer, Alejandro; Schultz-Rogers, Laura E; Olson, Rory J; Oliver, Gavin R;

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

Open Access
Year: 0000. Volume: 4 , Issue: 601-617 .
Authors: Stephenson, Sarah EM; Costain, Gregory; Blok, Laura ER; Silk, Michael A; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E; Dowling, James J; Walker, Susan; Amburgey, Kimberly;