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., Jan 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., Mar 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., Aug 2023, In: Biochimica et Biophysica Acta - Molecular Basis of Disease. 1869, 6, 166741.

Research output: Contribution to journal › Article › peer-review

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

AlAbdi, L., Maddirevula, S., Shamseldin, H. E., Khouj, E., Helaby, R., Hamid, H., Almulhim, A., Hashem, M. O., Abdulwahab, F., Abouyousef, O., Alqahtani, M., Altuwaijri, N., Jaafar, A., Alshidi, T., Alzahrani, F., Al-Sagheir, A. I., Mansour, A. M., Alawaji, A., Aldhilan, A., Alhashem, A., & 48 othersAlhemidan, A., Nabil, A., Khan, A. O., Aljohar, A., Alsaleem, B., Tabarki, B., Lourenco, C. M., Faqeih, E., AlShail, E., Almesaifri, F., Mutairi, F. A., Alzaidan, H., Morsy, H., Alshihry, H., Alkuraya, H., Girisha, K. M., Al-Fayez, K., Al-Rubeaan, K., kraoua, L., Alnemer, M., Tulbah, M., Zaki, M. S., Alfadhel, M., Abouelhoda, M., Nezarati, M. M., Al-Qattan, M., Shboul, M., Abanemai, M., Al-Muhaizea, M. A., Al-owain, M., Bafaqeeh, M. S., Alshammari, M., Abukhalid, M., Alsahan, N., Derar, N., Meriki, N., Bohlega, S. A., Tala, S. A., Alhassan, S., Wali, S., Mohamed, S., Coskun, S., Saadeh, S., Tkemaladze, T., Kurdi, W., Alhumaidi, Z. A., Rahbeeni, Z. & Alkuraya, F. S., Dec 2023, In: Nature Communications. 14, 1, 5269.

Research output: Contribution to journal › Article › peer-review

Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T>G p.(Tyr206Asp) in MAP3K7

Vasishta, S., Teli, A. S., Vasudeva, A., Girisha, K. M. & Nayak, S. S., Jun 2023, In: Prenatal Diagnosis. 43, 6, p. 721-723 3 p.

Research output: Contribution to journal › Article › peer-review