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204 results

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Page 1
De novo variants in MPP5 cause global developmental delay and behavioral changes.
Sterling N, Duncan AR, Park R, Koolen DA, Shi J, Cho SH, Benke PJ, Grant PE, Genetti CA, VanNoy GE, Juusola J, McWalter K, Parboosingh JS, Lamont RE, Bernier FP, Smith C, Harris DJ, Stegmann APA, Innes AM, Kim S, Agrawal PB. Sterling N, et al. Among authors: innes am. Hum Mol Genet. 2020 Dec 18;29(20):3388-3401. doi: 10.1093/hmg/ddaa224. Hum Mol Genet. 2020. PMID: 33073849 Free PMC article.
Bowen-Conradi syndrome: a clinical and genetic study.
Lowry RB, Innes AM, Bernier FP, McLeod DR, Greenberg CR, Chudley AE, Chodirker B, Marles SL, Crumley MJ, Loredo-Osti JC, Morgan K, Fujiwara TM. Lowry RB, et al. Among authors: innes am. Am J Med Genet A. 2003 Jul 30;120A(3):423-8. doi: 10.1002/ajmg.a.20059. Am J Med Genet A. 2003. PMID: 12838567
Clinical genetics and the Hutterite population: a review of Mendelian disorders.
Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB, Innes AM. Boycott KM, et al. Among authors: innes am. Am J Med Genet A. 2008 Apr 15;146A(8):1088-98. doi: 10.1002/ajmg.a.32245. Am J Med Genet A. 2008. PMID: 18348266 Review.
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nürnberg P, Douglas S, Craft CM, Akimenko MA, Hegele RA, Ober C, Utermann G, Bolz HJ, Bulman DE, Katsanis N, Blacque OE, Doherty D, Parboosingh JS, Leroux MR, Johnson CA, Boycott KM. Huang L, et al. Among authors: innes am. Am J Hum Genet. 2011 Dec 9;89(6):713-30. doi: 10.1016/j.ajhg.2011.11.005. Am J Hum Genet. 2011. PMID: 22152675 Free PMC article.
A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.
Loucks C, Parboosingh JS, Chong JX, Ober C, Siu VM, Hegele RA, Rupar CA, McLeod DR, Pinto A, Chudley AE, Innes AM. Loucks C, et al. Among authors: innes am. Am J Med Genet A. 2012 May;158A(5):1229-32. doi: 10.1002/ajmg.a.35302. Epub 2012 Apr 11. Am J Med Genet A. 2012. PMID: 22495976 Free PMC article. No abstract available.
204 results