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De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.
Wojcik MH, Okada K, Prabhu SP, Nowakowski DW, Ramsey K, Balak C, Rangasamy S, Brownstein CA, Schmitz-Abe K, Cohen JS, Fatemi A, Shi J, Grant EP, Narayanan V, Ho HH, Agrawal PB. Wojcik MH, et al. Among authors: prabhu sp. Am J Med Genet A. 2018 Dec;176(12):2623-2629. doi: 10.1002/ajmg.a.40493. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30151950 Free PMC article.
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.
D'Gama AM, England E, Madden JA, Shi J, Chao KR, Wojcik MH, Torres AR, Tan WH, Berry GT, Prabhu SP, Agrawal PB. D'Gama AM, et al. Among authors: prabhu sp. Am J Med Genet A. 2021 Jan;185(1):203-207. doi: 10.1002/ajmg.a.61910. Epub 2020 Oct 9. Am J Med Genet A. 2021. PMID: 33037779 Free PMC article.
Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum.
Kinney HC, Poduri AH, Cryan JB, Haynes RL, Teot L, Sleeper LA, Holm IA, Berry GT, Prabhu SP, Warfield SK, Brownstein C, Abram HS, Kruer M, Kemp WL, Hargitai B, Gastrang J, Mena OJ, Haas EA, Dastjerdi R, Armstrong DD, Goldstein RD. Kinney HC, et al. Among authors: prabhu sp. J Neuropathol Exp Neurol. 2016 Oct;75(10):981-997. doi: 10.1093/jnen/nlw075. Epub 2016 Sep 9. J Neuropathol Exp Neurol. 2016. PMID: 27612489 Free PMC article.
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.
Rodan LH, El Achkar CM, Berry GT, Poduri A, Prabhu SP, Yang E, Anselm I. Rodan LH, et al. Among authors: prabhu sp. J Child Neurol. 2017 Jan;32(1):127-131. doi: 10.1177/0883073816672998. Epub 2016 Oct 23. J Child Neurol. 2017. PMID: 27770045
Cardiac fibroma in a neonate.
Prabhu SP, Lee EY. Prabhu SP, et al. Pediatr Radiol. 2010 May;40(5):783. doi: 10.1007/s00247-009-1400-9. Epub 2009 Sep 12. Pediatr Radiol. 2010. PMID: 19756569 No abstract available.
173 results