A MICHEIL INNES
BSc MD FRCPC FCCMG  Associate Professor,
Department of Medical Genetics, Faculty of Medicine, University of Calgary Clinical Geneticist, Calgary Health Region
Tel: (403) 955-7588 Fax: (403) 955-2701
Research Interests I am a clinical geneticist with a primary research interest in the clinical and molecular delineation of genetic syndromes. Currently, the conditions I am most interested in are autosomal recessive disorders over-represented in isolated populations including Joubert syndrome, Meckel-Gruber syndrome, Bowen-Conradi syndrome and Bardet-Biedl syndrome. I have been involved in the clinical delineation and mapping of these syndromes. I also have a research interest in CNS malformations, particularly cerebellar hypoplasia and Chiari I malformation.
2008 - 2009 Publications 1. Gripp KW, Innes AM, Gillan TL, Parboosingh JS, Davies C, Axelrad ME, Leonard NJ, Lapointe M, Doyle D, Catalano S, Nicholson L, Stabley DL, Sol-Church, K 2008. Costello syndrome associated with novel germline HRAS mutations: An attenuate phenotype. Am J Med Genet 146A: 683-90. 2. Orton N, Innes AM, Chudley AE, Bech-Hensen 2008. Unique Disease Heritage of the Dutch-German Mennonite Population. Am J Med Genet 146A: 1072-86. 3. Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, Mcleod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Moller LB, Innes AM. 2008. Clinical genetics and the Hutterite population: A review of Mendelian disorders. Am J Med Genet 146A: 1088-98. 4. Gillan TL, Davies C, Innes AM, Miller J, Graham L, Chernos J, Bridge PJ, Parboosingh JS 2008. An undiagnosed cytogenetic abnormality results in the misidentification of a Duchenne muscular dystrophy carrier. Am J Med Genet 146A: 1067-71. 5. Kleefstra T, Van Zelst-Stams W, Nillesen W, Cormier-Daire V, Houge G, Foulds N, Van Dooren M, Willemsen M, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam M, Innes AM, Davies C, Gonzalez-Meneses Lopez A, Casalone R, Weber A, Brueton L, Navarro A, Bralo M, Venselaar H, Stegmann S, Yntema H, Van Bokhoven H, Brunner H. 2009. Further clinical and molecular delineation of the 9q Subtelomeric Deletion Syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet 46: 598-606. 6. Sparkes R, Shashirekha S, Chernos J, Mefford H, Innes AM. 2009. Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counseling. Prenat Diagn. 29:283-6. 7. Lin AE, O’Brien B, Demmer L, Almeda K, Blanco C, Glasow P, Berul C, Hamilton R, Innes AM, Lauzon J, Sol-Church K, Gripp K. Prenatal features of Costello syndrome: Ultrasonographic findings and atrial tachycardia. Prenat Diagn 29:682-90. 8. Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxova A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafe L. Mutations in the heparan-sulfate proteoglycan glypican 6 ( GPC6) impair endochondral ossification and cause recessive omodysplasia. Am J Hum Genet 2009 Jun; 84(6): 760-70. Research Funding
Alberta Children’s Hospital Foundation · “Gene Identification in Human Chiari I Malformations” 2006 · “Characterization and Gene Identification of Novel Neurodevelopment Syndromes in the Hutterite Population of Alberta” 2006 · “Molecular Cytogenic Characterization of Apparently Balanced Chromosomal Rearrangements” 2005- · “Mapping and identification of genetic cerebellar syndromes in the Hutterite population of Alberta” 2004-2006 · “Characterization of a contiguous Gene Deletion Syndrome Associated with Childhood-Onset Obesity and Learning Difficulties” · "Molecular Characterization of a Cohort of Canadian Children with Rubenstein-Taybi Syndrome" 2009 CIHR · "Identification of a Novel Gene for Joubert Syndrome" 2009-2012
|
 |
|
|
