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Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Sheth H, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, Kadam S, Nampoothiri S, Panigrahi I, Kaur A, Shah S, Mehta S, Jagadeesan S, Suresh I, Kapoor S, Bajaj S, Devi RR, Prajapati A, Godbole K, Patel H, Luhar Z, Shah RC, Iyer A, Bijarnia S, Puri R, Muranjan M, Shah A, Magar S, Gupta N, Tayade N, Gandhi A, Sowani A, Kale S, Jalan A, Solanki D, Dalal A, Mane S, Prabha CR, Sheth F, Joshi CG, Joshi M, Sheth J. Sheth H, et al. Among authors: mane s. Hum Genomics. 2024 May 10;18(1):46. doi: 10.1186/s40246-024-00613-9. Hum Genomics. 2024. PMID: 38730490 Free PMC article.
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.
Ben-Moshe Y, Shlomovitz O, Atias-Varon D, Haskin O, Ben-Shalom E, Shasha Lavsky H, Volovelsky O, Mane S, Ben-Ruby D, Chowers G, Skorecki K, Borovitz Y, Kagan M, Mor N, Khavkin Y, Tzvi-Behr S, Pollack S, Toder MP, Geylis M, Schnapp A, Becker-Cohen R, Weissman I, Schreiber R, Davidovits M, Frishberg Y, Magen D, Barel O, Vivante A. Ben-Moshe Y, et al. Among authors: mane s. Kidney Int Rep. 2023 Jul 31;8(10):2126-2135. doi: 10.1016/j.ekir.2023.07.019. eCollection 2023 Oct. Kidney Int Rep. 2023. PMID: 37850020 Free PMC article.
The human and non-human primate developmental GTEx projects.
Coorens THH, Guillaumet-Adkins A, Kovner R, Linn RL, Roberts VHJ, Sule A, Van Hoose PM; dGTEx Consortium. Coorens THH, et al. Nature. 2025 Jan;637(8046):557-564. doi: 10.1038/s41586-024-08244-9. Epub 2025 Jan 15. Nature. 2025. PMID: 39815096 Review.
Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.
Zhang C, Liang D, Ercan-Sencicek AG, Bulut AS, Cortes J, Cheng IQ, Henegariu O, Nishimura S, Wang X, Peksen AB, Takeo Y, Caglar C, Lam TT, Koroglu MN, Narayanan A, Lopez-Giraldez F, Miyagishima DF, Mishra-Gorur K, Barak T, Yasuno K, Erson-Omay EZ, Yalcinkaya C, Wang G, Mane S, Kaymakcalan H, Guzel A, Caglayan AO, Tuysuz B, Sestan N, Gunel M, Louvi A, Bilguvar K. Zhang C, et al. Among authors: mane s. Nature. 2025 Jan 1. doi: 10.1038/s41586-024-08341-9. Online ahead of print. Nature. 2025. PMID: 39743596
552 results