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De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Pande S, Majethia P, Nair K, Rao LP, Mascarenhas S, Kaur N, do Rosario MC, Neethukrishna K, Chaurasia A, Hunakunti B, Jadhav N, Xavier S, Kumar J, Bhat V, Bhavani GS, Narayanan DL, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Aroor S, Bhat Y R, Lewis LE, Sharma S, Bajaj S, Sankhyan N, Siddiqui S, Nayak SS, Bielas S, Girisha KM, Shukla A. Pande S, et al. Eur J Hum Genet. 2023 Dec 20. doi: 10.1038/s41431-023-01513-7. Online ahead of print. Eur J Hum Genet. 2023. PMID: 38114583
Untapped opportunities for rare disease gene discovery in India.
Girisha KM, Pande S, Dalal A, Phadke SR. Girisha KM, et al. Among authors: pande s. Am J Med Genet A. 2020 Dec;182(12):3056-3059. doi: 10.1002/ajmg.a.61866. Epub 2020 Sep 10. Am J Med Genet A. 2020. PMID: 32914504 No abstract available.
Trichothiodystrophy type 4 in an Indian family.
Pande S, Shukla A, Girisha KM. Pande S, et al. Am J Med Genet A. 2020 Oct;182(10):2226-2229. doi: 10.1002/ajmg.a.61794. Epub 2020 Aug 17. Am J Med Genet A. 2020. PMID: 33043633
Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.
Sheikh TI, Vasli N, Pastore S, Kharizi K, Harripaul R, Fattahi Z, Pande S, Naeem F, Hussain A, Mir A, Islam O, Girisha KM, Irfan M, Ayub M, Schwarzer C, Najmabadi H, Shukla A, Sladky VC, Braun VZ, Garcia-Carpio I, Villunger A, Vincent JB. Sheikh TI, et al. Among authors: pande s. Transl Psychiatry. 2021 Jan 5;11(1):1. doi: 10.1038/s41398-020-01158-w. Transl Psychiatry. 2021. PMID: 33414379 Free PMC article.
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Narayanan DL, Udyawar D, Kaur P, Sharma S, Suresh N, Nampoothiri S, do Rosario MC, Somashekar PH, Rao LP, Kausthubham N, Majethia P, Pande S, Ramesh Bhat Y, Shrikiran A, Bielas S, Girisha KM, Shukla A. Narayanan DL, et al. Among authors: pande s. Eur J Hum Genet. 2021 Dec;29(12):1774-1780. doi: 10.1038/s41431-021-00933-7. Epub 2021 Jul 19. Eur J Hum Genet. 2021. PMID: 34276053 Free PMC article.
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P, Kaur N, Mascarenhas S, Rao LP, Pande S, Narayanan DL, Bhat V, Nayak SS, Nair KV, Prasannakumar AP, Chaurasia A, Hunakunti B, Jadhav N, Farooqui S, Yeole M, Kothiwale V, Naik R, Bhat V, Aroor S, Lewis L, Purkayastha J, Bhat YR, Praveen BK, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Siddiqui S, Bielas S, Girisha KM, Sharma S, Shukla A. Majethia P, et al. Among authors: pande s. Clin Genet. 2024 Jun;105(6):639-654. doi: 10.1111/cge.14495. Epub 2024 Feb 19. Clin Genet. 2024. PMID: 38374498
592 results