Research output per year
Research output per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Fingerprint
Dive into the research topics where Shalini S Nayak is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
-
A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9
Shravya, M. S., Mathew, M., Vasudeva, A., Girisha, K. M. & Nayak, S. S., 01-2023, In: Clinical Genetics. 103, 1, p. 127-129 3 p.Research output: Contribution to journal › Letter › peer-review
-
Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence
Nayak, S. S., Harkness, R., Shukla, A., Banka, S., Newman, W. G. & Girisha, K. M., 03-2023, In: American Journal of Medical Genetics, Part A. 191, 3, p. 730 - 741 12 p.Research output: Contribution to journal › Article › peer-review
-
Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII
Udupa, P., Shrikondawar, A. N., Nayak, S. S., Shah, H., Ranjan, A., Girisha, K. M., Bhavani, G. S. L. & Ghosh, D. K., 08-2023, In: Biochimica et Biophysica Acta - Molecular Basis of Disease. 1869, 6, 166741.Research output: Contribution to journal › Article › peer-review
-
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis
Altunoglu, U., Börklü, E., Shukla, A., Escande-Beillard, N., Ledig, S., Azaklı, H., Nayak, S. S., Eraslan, S., Girisha, K. M., Kennerknecht, I. & Kayserili, H., 02-2022, In: Clinical Genetics. 101, 2, p. 221-232 12 p.Research output: Contribution to journal › Article › peer-review
2 Citations (Scopus) -
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A
Upadhyai, P., Radhakrishnan, P., Guleria, V. S., Kausthubham, N., Nayak, S. S., Superti-Furga, A. & Girisha, K. M., 08-2021, In: Human Mutation.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus)