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Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1.
Szelinger S, Krate J, Ramsey K, Strom SP, Shieh PB, Lee H, Belnap N, Balak C, Siniard AL, Russell M, Richholt R, Both M, Claasen AM, Schrauwen I, Nelson SF, Huentelman MJ, Craig DW, Yang SP, Moore SA, Sivakumar K, Narayanan V, Rangasamy S; UCLA Clinical Genomics Center. Szelinger S, et al. Among authors: craig dw. Neurol Genet. 2020 Jun 30;6(4):e468. doi: 10.1212/NXG.0000000000000468. eCollection 2020 Aug. Neurol Genet. 2020. PMID: 32754643 Free PMC article.
The Autism Genome Project: goals and strategies.
Hu-Lince D, Craig DW, Huentelman MJ, Stephan DA. Hu-Lince D, et al. Among authors: craig dw. Am J Pharmacogenomics. 2005;5(4):233-46. doi: 10.2165/00129785-200505040-00004. Am J Pharmacogenomics. 2005. PMID: 16078860 Review.
Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies.
Pearson JV, Huentelman MJ, Halperin RF, Tembe WD, Melquist S, Homer N, Brun M, Szelinger S, Coon KD, Zismann VL, Webster JA, Beach T, Sando SB, Aasly JO, Heun R, Jessen F, Kolsch H, Tsolaki M, Daniilidou M, Reiman EM, Papassotiropoulos A, Hutton ML, Stephan DA, Craig DW. Pearson JV, et al. Among authors: craig dw. Am J Hum Genet. 2007 Jan;80(1):126-39. doi: 10.1086/510686. Epub 2006 Dec 6. Am J Hum Genet. 2007. PMID: 17160900 Free PMC article.
Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.
Huentelman MJ, Papassotiropoulos A, Craig DW, Hoerndli FJ, Pearson JV, Huynh KD, Corneveaux J, Hänggi J, Mondadori CR, Buchmann A, Reiman EM, Henke K, de Quervain DJ, Stephan DA. Huentelman MJ, et al. Among authors: craig dw. Hum Mol Genet. 2007 Jun 15;16(12):1469-77. doi: 10.1093/hmg/ddm097. Epub 2007 Apr 30. Hum Mol Genet. 2007. PMID: 17470457 Free article.
Whole-genome analysis of sporadic amyotrophic lateral sclerosis.
Dunckley T, Huentelman MJ, Craig DW, Pearson JV, Szelinger S, Joshipura K, Halperin RF, Stamper C, Jensen KR, Letizia D, Hesterlee SE, Pestronk A, Levine T, Bertorini T, Graves MC, Mozaffar T, Jackson CE, Bosch P, McVey A, Dick A, Barohn R, Lomen-Hoerth C, Rosenfeld J, O'connor DT, Zhang K, Crook R, Ryberg H, Hutton M, Katz J, Simpson EP, Mitsumoto H, Bowser R, Miller RG, Appel SH, Stephan DA. Dunckley T, et al. Among authors: craig dw. N Engl J Med. 2007 Aug 23;357(8):775-88. doi: 10.1056/NEJMoa070174. Epub 2007 Aug 1. N Engl J Med. 2007. PMID: 17671248 Free article.
231 results