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Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjöld M, Gecz J, Xia K, Zweifel LS, Eichler EE. Geisheker MR, et al. Among authors: nalabolu s. Nat Neurosci. 2017 Aug;20(8):1043-1051. doi: 10.1038/nn.4589. Epub 2017 Jun 19. Nat Neurosci. 2017. PMID: 28628100 Free PMC article.
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE. Stessman HA, et al. Among authors: nalabolu s. Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191889 Free PMC article.
A predictive ensemble classifier for the gene expression diagnosis of ASD at ages 1 to 4 years.
Bao B, Zahiri J, Gazestani VH, Lopez L, Xiao Y, Kim R, Wen TH, Chiang AWT, Nalabolu S, Pierce K, Robasky K, Wang T, Hoekzema K, Eichler EE, Lewis NE, Courchesne E. Bao B, et al. Among authors: nalabolu s. Mol Psychiatry. 2023 Feb;28(2):822-833. doi: 10.1038/s41380-022-01826-x. Epub 2022 Oct 20. Mol Psychiatry. 2023. PMID: 36266569 Free PMC article.
Get SET Early to Identify and Treatment Refer Autism Spectrum Disorder at 1 Year and Discover Factors That Influence Early Diagnosis.
Pierce K, Gazestani V, Bacon E, Courchesne E, Cheng A, Barnes CC, Nalabolu S, Cha D, Arias S, Lopez L, Pham C, Gaines K, Gyurjyan G, Cook-Clark T, Karins K. Pierce K, et al. Among authors: nalabolu s. J Pediatr. 2021 Sep;236:179-188. doi: 10.1016/j.jpeds.2021.04.041. Epub 2021 Apr 27. J Pediatr. 2021. PMID: 33915154 Free article.
A transcription map of the major histocompatibility complex (MHC) class I region.
Gruen JR, Nalabolu SR, Chu TW, Bowlus C, Fan WF, Goei VL, Wei H, Sivakamasundari R, Liu Y, Xu HX, Parimoo S, Nallur G, Ajioka R, Shukla H, Bray-Ward P, Pan J, Weissman SM. Gruen JR, et al. Among authors: nalabolu sr. Genomics. 1996 Aug 15;36(1):70-85. doi: 10.1006/geno.1996.0427. Genomics. 1996. PMID: 8812418 Free article.
17 results