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Is gene discovery research or diagnosis?
Samuels ME, Orr A, Guernsey DL, Dooley K, Riddell C, Hodgkinson K, Ludman M, Pullman D. Samuels ME, et al. Genet Med. 2008 Jun;10(6):385-90. doi: 10.1097/GIM.0b013e3181770172. Genet Med. 2008. PMID: 18496224 Free article.
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD, Lachance M, Matsuoka M, Nightingale M, Rideout A, Saint-Amant L, Schmidt PJ, Orr A, Bottomley SS, Fleming MD, Ludman M, Dyack S, Fernandez CV, Samuels ME. Guernsey DL, et al. Nat Genet. 2009 Jun;41(6):651-3. doi: 10.1038/ng.359. Epub 2009 May 3. Nat Genet. 2009. PMID: 19412178
Novel mutations in the sacsin gene in ataxia patients from Maritime Canada.
Guernsey DL, Dubé MP, Jiang H, Asselin G, Blowers S, Evans S, Ferguson M, Macgillivray C, Matsuoka M, Nightingale M, Rideout A, Delatycki M, Orr A, Ludman M, Dooley J, Riddell C, Samuels ME. Guernsey DL, et al. J Neurol Sci. 2010 Jan 15;288(1-2):79-87. doi: 10.1016/j.jns.2009.09.034. Epub 2009 Nov 4. J Neurol Sci. 2010. PMID: 19892370
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S, Babineau-Sturk T, Beis J, Dumas N, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Patry L, Rideout AL, Thomas A, Orr A, Hoffmann I, Michaud JL, Awadalla P, Meek DC, Ludman M, Samuels ME. Guernsey DL, et al. Am J Hum Genet. 2010 Jul 9;87(1):40-51. doi: 10.1016/j.ajhg.2010.06.003. Am J Hum Genet. 2010. PMID: 20598275 Free PMC article.
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout AL, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore DL, Samuels ME. Guernsey DL, et al. Nat Genet. 2011 Feb 27;43(4):360-4. doi: 10.1038/ng.777. Nat Genet. 2011. PMID: 21358631
37 results