Schaaf CP - Search Results

1

Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.

Chen CA, Pal R, Yin J, Tao H, Amawi A, Sabo A, Bainbridge MN, Gibbs RA, Zoghbi HY, Schaaf CP. Chen CA, et al. Among authors: schaaf cp. Hum Mol Genet. 2020 Feb 1;29(3):459-470. doi: 10.1093/hmg/ddz305. Hum Mol Genet. 2020. PMID: 31943016 Free PMC article.

2

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.

Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Ramocki MB, et al. Among authors: schaaf cp. Ann Neurol. 2009 Dec;66(6):771-82. doi: 10.1002/ana.21715. Ann Neurol. 2009. PMID: 20035514 Free PMC article.

3

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia.

Schaaf CP, Goin-Kochel RP, Nowell KP, Hunter JV, Aleck KA, Cox S, Patel A, Bacino CA, Shinawi M. Schaaf CP, et al. Eur J Hum Genet. 2011 Feb;19(2):152-6. doi: 10.1038/ejhg.2010.168. Epub 2010 Oct 20. Eur J Hum Genet. 2011. PMID: 20959866 Free PMC article.

4

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.

Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A, Lewis L, Akbar H, Varghese R, Boerwinkle E, Gibbs RA, Zoghbi HY. Schaaf CP, et al. Hum Mol Genet. 2011 Sep 1;20(17):3366-75. doi: 10.1093/hmg/ddr243. Epub 2011 May 30. Hum Mol Genet. 2011. PMID: 21624971 Free PMC article.

5

Solving the autism puzzle a few pieces at a time.

Schaaf CP, Zoghbi HY. Schaaf CP, et al. Neuron. 2011 Jun 9;70(5):806-8. doi: 10.1016/j.neuron.2011.05.025. Neuron. 2011. PMID: 21658575 Free article.

6

Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay.

Witsch J, Szafranski P, Chen CA, Immken L, Simpson Patel G, Hixson P, Cheung SW, Stankiewicz P, Schaaf CP. Witsch J, et al. Among authors: schaaf cp. Eur J Hum Genet. 2013 Nov;21(11):1304-7. doi: 10.1038/ejhg.2013.42. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486542 Free PMC article.

7

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.

Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y. Schaaf CP, et al. Nat Genet. 2013 Nov;45(11):1405-8. doi: 10.1038/ng.2776. Epub 2013 Sep 29. Nat Genet. 2013. PMID: 24076603 Free PMC article.

8

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.

Han K, Holder JL Jr, Schaaf CP, Lu H, Chen H, Kang H, Tang J, Wu Z, Hao S, Cheung SW, Yu P, Sun H, Breman AM, Patel A, Lu HC, Zoghbi HY. Han K, et al. Among authors: schaaf cp. Nature. 2013 Nov 7;503(7474):72-7. doi: 10.1038/nature12630. Epub 2013 Oct 23. Nature. 2013. PMID: 24153177 Free PMC article.

9

NR2F1 mutations cause optic atrophy with intellectual disability.

Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA; Baylor-Hopkins Center for Mendelian Genomics; Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP. Bosch DG, et al. Among authors: schaaf cp. Am J Hum Genet. 2014 Feb 6;94(2):303-9. doi: 10.1016/j.ajhg.2014.01.002. Epub 2014 Jan 23. Am J Hum Genet. 2014. PMID: 24462372 Free PMC article.

10

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R; FORGE Canada Consortium; Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB. Enns GM, et al. Among authors: schaaf cp. Genet Med. 2014 Oct;16(10):751-8. doi: 10.1038/gim.2014.22. Epub 2014 Mar 20. Genet Med. 2014. PMID: 24651605 Free PMC article.

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