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Arts syndrome is caused by loss-of-function mutations in PRPS1.
de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H. de Brouwer AP, et al. Among authors: donald ja. Am J Hum Genet. 2007 Sep;81(3):507-18. doi: 10.1086/520706. Epub 2007 Aug 3. Am J Hum Genet. 2007. PMID: 17701896 Free PMC article.
A novel syndrome of episodic muscle weakness maps to xp22.3.
Ryan MM, Taylor P, Donald JA, Ouvrier RA, Morgan G, Danta G, Buckley MF, North KN. Ryan MM, et al. Among authors: donald ja. Am J Hum Genet. 1999 Oct;65(4):1104-13. doi: 10.1086/302588. Am J Hum Genet. 1999. PMID: 10486330 Free PMC article.
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder.
Segurado R, Detera-Wadleigh SD, Levinson DF, Lewis CM, Gill M, Nurnberger JI Jr, Craddock N, DePaulo JR, Baron M, Gershon ES, Ekholm J, Cichon S, Turecki G, Claes S, Kelsoe JR, Schofield PR, Badenhop RF, Morissette J, Coon H, Blackwood D, McInnes LA, Foroud T, Edenberg HJ, Reich T, Rice JP, Goate A, McInnis MG, McMahon FJ, Badner JA, Goldin LR, Bennett P, Willour VL, Zandi PP, Liu J, Gilliam C, Juo SH, Berrettini WH, Yoshikawa T, Peltonen L, Lönnqvist J, Nöthen MM, Schumacher J, Windemuth C, Rietschel M, Propping P, Maier W, Alda M, Grof P, Rouleau GA, Del-Favero J, Van Broeckhoven C, Mendlewicz J, Adolfsson R, Spence MA, Luebbert H, Adams LJ, Donald JA, Mitchell PB, Barden N, Shink E, Byerley W, Muir W, Visscher PM, Macgregor S, Gurling H, Kalsi G, McQuillin A, Escamilla MA, Reus VI, Leon P, Freimer NB, Ewald H, Kruse TA, Mors O, Radhakrishna U, Blouin JL, Antonarakis SE, Akarsu N. Segurado R, et al. Among authors: donald ja. Am J Hum Genet. 2003 Jul;73(1):49-62. doi: 10.1086/376547. Epub 2003 Jun 11. Am J Hum Genet. 2003. PMID: 12802785 Free PMC article.
Confirmation of chromosome 9p linkage in familial melanoma.
Nancarrow DJ, Mann GJ, Holland EA, Walker GJ, Beaton SC, Walters MK, Luxford C, Palmer JM, Donald JA, Weber JL, et al. Nancarrow DJ, et al. Among authors: donald ja. Am J Hum Genet. 1993 Oct;53(4):936-42. Am J Hum Genet. 1993. PMID: 8213823 Free PMC article.
147 results