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Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism.
Rubinstein M, Patowary A, Stanaway IB, McCord E, Nesbitt RR, Archer M, Scheuer T, Nickerson D, Raskind WH, Wijsman EM, Bernier R, Catterall WA, Brkanac Z. Rubinstein M, et al. Among authors: raskind wh. Mol Psychiatry. 2018 Feb;23(2):231-239. doi: 10.1038/mp.2016.222. Epub 2016 Dec 13. Mol Psychiatry. 2018. PMID: 27956748 Free PMC article.
Evidence for involvement of GNB1L in autism.
Chen YZ, Matsushita M, Girirajan S, Lisowski M, Sun E, Sul Y, Bernier R, Estes A, Dawson G, Minshew N, Shellenberg GD, Eichler EE, Rieder MJ, Nickerson DA, Tsuang DW, Tsuang MT, Wijsman EM, Raskind WH, Brkanac Z. Chen YZ, et al. Among authors: raskind wh. Am J Med Genet B Neuropsychiatr Genet. 2012 Jan;159B(1):61-71. doi: 10.1002/ajmg.b.32002. Epub 2011 Nov 16. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22095694 Free PMC article.
Caspase-8, association with Alzheimer's Disease and functional analysis of rare variants.
Rehker J, Rodhe J, Nesbitt RR, Boyle EA, Martin BK, Lord J, Karaca I, Naj A, Jessen F, Helisalmi S, Soininen H, Hiltunen M, Ramirez A, Scherer M, Farrer LA, Haines JL, Pericak-Vance MA, Raskind WH, Cruchaga C, Schellenberg GD, Joseph B, Brkanac Z. Rehker J, et al. Among authors: raskind wh. PLoS One. 2017 Oct 6;12(10):e0185777. doi: 10.1371/journal.pone.0185777. eCollection 2017. PLoS One. 2017. PMID: 28985224 Free PMC article.
Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder.
Chapman NH, Bernier RA, Webb SJ, Munson J, Blue EM, Chen DH, Heigham E, Raskind WH, Wijsman EM. Chapman NH, et al. Among authors: raskind wh. Hum Genet. 2018 Oct;137(10):807-815. doi: 10.1007/s00439-018-1939-3. Epub 2018 Oct 1. Hum Genet. 2018. PMID: 30276537 Free PMC article.
IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.
Brkanac Z, Spencer D, Shendure J, Robertson PD, Matsushita M, Vu T, Bird TD, Olson MV, Raskind WH. Brkanac Z, et al. Among authors: raskind wh. Am J Hum Genet. 2009 May;84(5):692-7. doi: 10.1016/j.ajhg.2009.04.008. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409521 Free PMC article.
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Girirajan S, Brkanac Z, Coe BP, Baker C, Vives L, Vu TH, Shafer N, Bernier R, Ferrero GB, Silengo M, Warren ST, Moreno CS, Fichera M, Romano C, Raskind WH, Eichler EE. Girirajan S, et al. Among authors: raskind wh. PLoS Genet. 2011 Nov;7(11):e1002334. doi: 10.1371/journal.pgen.1002334. Epub 2011 Nov 10. PLoS Genet. 2011. PMID: 22102821 Free PMC article.
195 results