Xander Nuttle
Assistant Professor of Human Genetics
[email protected]

Available to mentor

Xander Nuttle
Assistant Professor
  • About
  • Qualifications
  • Recent Publications
  • About

    We investigate questions and pursue challenges at the interface of the genome, disease, and evolution. Our strategy integrates technology development, mutational modeling with CRISPR and cerebral organoids, and analyses of natural genetic variation to elucidate genotype-phenotype relationships, with a primary focus on the brain. Major goals are to delineate how specific mutations translate into neurodevelopmental disorders (NDDs), to identify genetic bases for uniquely human traits, and to innovate new tools for the field. This research will empower discovery, advance our knowledge of NDD pathogenic mechanisms and human evolution, and catalyze precision therapeutics.

    Qualifications
    • PhD
      University of Washington, Seattle
    • BS
      Duke University, Durham
    • BSE
      Duke University, Durham
    • Certificate
      Duke University, Durham
    Recent Publications See All Publications
    • Journal Article
      Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries.
      Nuttle X, Burt ND, Currall B, Moysés-Oliveira M, Mohajeri K, Bhavsar R, Lucente D, Yadav R, Tai DJC, Gusella JF, Talkowski ME. Cell Rep Methods, 2024 Jan 22; 4 (1): 100672 DOI:10.1016/j.crmeth.2023.100672
      PMID: 38091988
    • Journal Article
      Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies.
      Liao C, Moyses-Oliveira M, De Esch CEF, Bhavsar R, Nuttle X, Li A, Yu A, Burt ND, Erdin S, Fu JM, Wang M, Morley T, Han L, CommonMind Consortium , Dion PA, Rouleau GA, Zhang B, Brennand KJ, Talkowski ME, Ruderfer DM. Cell Genom, 2023 Apr 12; 3 (4): 100277 DOI:10.1016/j.xgen.2023.100277
      PMID: 37082147
    • Journal Article
      Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
      Tai DJC, Razaz P, Erdin S, Gao D, Wang J, Nuttle X, de Esch CE, Collins RL, Currall BB, O'Keefe K, Burt ND, Yadav R, Wang L, Mohajeri K, Aneichyk T, Ragavendran A, Stortchevoi A, Morini E, Ma W, Lucente D, Hastie A, Kelleher RJ, Perlis RH, Talkowski ME, Gusella JF. Am J Hum Genet, 2022 Oct 6; 109 (10): 1789 - 1813. DOI:10.1016/j.ajhg.2022.08.012
      PMID: 36152629
    • Journal Article
      Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis.
      Fiddes IT, Lodewijk GA, Mooring M, Bosworth CM, Ewing AD, Mantalas GL, Novak AM, van den Bout A, Bishara A, Rosenkrantz JL, Lorig-Roach R, Field AR, Haeussler M, Russo L, Bhaduri A, Nowakowski TJ, Pollen AA, Dougherty ML, Nuttle X, Addor M-C, Zwolinski S, Katzman S, Kriegstein A, Eichler EE, Salama SR, Jacobs FMJ, Haussler D. Cell, 2018 May 31; 173 (6): 1356 - 1369.e22. DOI:10.1016/j.cell.2018.03.051
      PMID: 29856954
    • Journal Article
      The birth of a human-specific neural gene by incomplete duplication and gene fusion.
      Dougherty ML, Nuttle X, Penn O, Nelson BJ, Huddleston J, Baker C, Harshman L, Duyzend MH, Ventura M, Antonacci F, Sandstrom R, Dennis MY, Eichler EE. Genome Biol, 2017 Mar 9; 18 (1): 49 DOI:10.1186/s13059-017-1163-9
      PMID: 28279197
    • Journal Article
      Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.
      Nuttle X, Giannuzzi G, Duyzend MH, Schraiber JG, Narvaiza I, Sudmant PH, Penn O, Chiatante G, Malig M, Huddleston J, Benner C, Camponeschi F, Ciofi-Baffoni S, Stessman HAF, Marchetto MCN, Denman L, Harshman L, Baker C, Raja A, Penewit K, Janke N, Tang WJ, Ventura M, Banci L, Antonacci F, Akey JM, Amemiya CT, Gage FH, Reymond A, Eichler EE. Nature, 2016 Aug 11; 536 (7615): 205 - 209. DOI:10.1038/nature19075
      PMID: 27487209
    • Journal Article
      Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions.
      Nuttle X, Huddleston J, O'Roak BJ, Antonacci F, Fichera M, Romano C, Shendure J, Eichler EE. Nat Methods, 2013 Sep; 10 (9): 903 - 909. DOI:10.1038/nmeth.2572
      PMID: 23892896
    • Journal Article
      Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication.
      Dennis MY, Nuttle X, Sudmant PH, Antonacci F, Graves TA, Nefedov M, Rosenfeld JA, Sajjadian S, Malig M, Kotkiewicz H, Curry CJ, Shafer S, Shaffer LG, de Jong PJ, Wilson RK, Eichler EE. Cell, 2012 May 11; 149 (4): 912 - 922. DOI:10.1016/j.cell.2012.03.033
      PMID: 22559943