Aditi Gupta

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Professional Information

My current Designation (1 August 2023- Present) is as an Assistant Professor at the Division of Reproductive Genetics, Department of Reproductive Science, Kasturba Medical College, Manipal Manipal Academy of Higher Education, Manipal, Karnataka, India.

My work involves obtaining research grants for conducting research in the field of Human Reproductive Genetics, mentoring M.Sc. and Ph.D. students, and teaching theory and practical modules related to genetics for postgraduate students of M.Sc. Reproductive Genetics.

Research interests

1. Reproductive Genetics
2. Human Genetics, Medical Genomics
3. Rare genetic disorders, Congenital defects, infertility related disorders

Creative Works

https://www.ncbi.nlm.nih.gov/myncbi/aditi.gupta.8/bibliography/public/

Experience

1. Current Role- Assistant Professor, Department of Reproductive Science, KMC, Manipal, MAHE, Manipal (Since 1 Aug 2023)
Previous experience-
2. Senior Scientist II – Strand Life Sciences India Pvt. Ltd., Bangalore, Karnataka (August 2021- July 2023)
3. Postdoctoral Research Fellow - Dana-Farber Cancer Institute, Boston, MA, USA (May 2019- July 2021)
4. Postdoctoral Research Fellow - Mayo Clinic, Rochester, MN, USA (Sep 2016- May 2019)
5. Research Associate - All India Institute of Medical Sciences, New Delhi (Nov 2015- Sep 2016)

Awards and recognition:

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13 Article
1 Review article

Congenital anomalies observed in children conceived through assisted reproductive technology—a systematic review and meta-analysis
Bhat, P., Dhyani, V. S., Lakshmi, V., Uppangala, S., Adiga, S. K., Adiga, P., Kumar, P. & Gupta, A., 05-2025, In: Journal of Assisted Reproduction and Genetics. 42, 5, p. 1547-1565 19 p.
Research output: Contribution to journal › Review article › peer-review

Open Access
Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia
Lampson, B. L., Gupta, A., Tyekucheva, S., Mashima, K., Petráčková, A., Wang, Z., Wojciechowska, N., Shaughnessy, C. J., Baker, P. O., Fernandes, S. M., Shupe, S., MacHado, J. H., Fardoun, R., Kim, A. S. & Brown, J. R., 10-02-2023, In: Journal of Clinical Oncology. 41, 5, p. 1116-1128 13 p.
Research output: Contribution to journal › Article › peer-review

Open Access
18 Citations (Scopus)
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
TUDP Study Group & Broad Center for Mendelian Genomics, 07-04-2022, In: American Journal of Human Genetics. 109, 4, p. 601-617 17 p.
Research output: Contribution to journal › Article › peer-review

Open Access
27 Citations (Scopus)
Impact of integrated translational research on clinical exome sequencing
Klee, E. W., Cousin, M. A., Pinto e Vairo, F., Morales-Rosado, J. A., Macke, E. L., Jenkinson, W. G., Ferrer, A., Schultz-Rogers, L. E., Olson, R. J., Oliver, G. R., Sigafoos, A. N., Schwab, T. L., Zimmermann, M. T., Urrutia, R. A., Kaiwar, C., Gupta, A., Blackburn, P. R., Boczek, N. J., Prochnow, C. A. & Lowy, R. J. & 40 others, Mulvihill, L. A., McAllister, T. M., Aoudia, S. L., Kruisselbrink, T. M., Gunderson, L. B., Kemppainen, J. L., Fisher, L. J., Tarnowski, J. M., Hager, M. M., Kroc, S. A., Bertsch, N. L., Agre, K. E., Jackson, J. L., Macklin-Mantia, S. K., Murphree, M. I., Rust, L. M., Summer Bolster, J. M., Beck, S. A., Atwal, P. S., Ellingson, M. S., Barnett, S. S., Rasmussen, K. J., Lahner, C. A., Niu, Z., Hasadsri, L., Ferber, M. J., Marcou, C. A., Clark, K. J., Pichurin, P. N., Deyle, D. R., Morava-Kozicz, E., Gavrilova, R. H., Dhamija, R., Wierenga, K. J., Lanpher, B. C., Babovic-Vuksanovic, D., Farrugia, G., Schimmenti, L. A., Stewart, A. K. & Lazaridis, K. N., 03-2021, In: Genetics in Medicine. 23, 3, p. 498-507 10 p.
Research output: Contribution to journal › Article › peer-review

Open Access
30 Citations (Scopus)
A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C
Macke, E. L., Morales-Rosado, J. A., Gupta, A., Schmitz, C. T., Kruisselbrink, T., Lanpher, B. & Klee, E. W., 08-2020, In: Cold Spring Harbor molecular case studies. 6, 4, a005165.
Research output: Contribution to journal › Article › peer-review

Open Access
2 Citations (Scopus)

Aditi Gupta

Personal profile

Professional Information

Research interests

Creative Works

Experience

Fingerprint

Collaborations and top research areas from the last five years

Dive into details

Congenital anomalies observed in children conceived through assisted reproductive technology—a systematic review and meta-analysis

Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia

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

Impact of integrated translational research on clinical exome sequencing

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

Aditi Gupta

Personal profile

Professional Information

Research interests

Creative Works

Experience

Fingerprint

Collaborations and top research areas from the last five years

Research output

Congenital anomalies observed in children conceived through assisted reproductive technology—a systematic review and meta-analysis

Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia

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

Impact of integrated translational research on clinical exome sequencing

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