A Micheil Innes
A Micheil Innes
University of Calgary
Verified email at albertahealthservices.ca - Homepage
TitleCited byYear
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
JB Rivičre, GM Mirzaa, BJ O'Roak, M Beddaoui, D Alcantara, RL Conway, ...
Nature genetics 44 (8), 934, 2012
4672012
G protein-coupled receptor-dependent development of human frontal cortex
X Piao, RS Hill, A Bodell, BS Chang, L Basel-Vanagaite, R Straussberg, ...
Science 303 (5666), 2033-2036, 2004
4312004
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype
SL Sawyer, L Tian, M Kähkönen, J Schwartzentruber, M Kircher, ...
Cancer discovery 5 (2), 135-142, 2015
2002015
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia
L Feuk, A Kalervo, M Lipsanen-Nyman, J Skaug, K Nakabayashi, ...
The American Journal of Human Genetics 79 (5), 965-972, 2006
1932006
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
SL Sawyer, T Hartley, DA Dyment, CL Beaulieu, J Schwartzentruber, ...
Clinical genetics 89 (3), 275-284, 2016
1922016
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype
T Kleefstra, WA van Zelst-Stams, WM Nillesen, V Cormier-Daire, G Houge, ...
Journal of medical genetics 46 (9), 598-606, 2009
1702009
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
L Huang, K Szymanska, VL Jensen, AR Janecke, AM Innes, EE Davis, ...
The American Journal of Human Genetics 89 (6), 713-730, 2011
1552011
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi‐Goutičres syndrome
G Ramantani, J Kohlhase, C Hertzberg, AM Innes, K Engel, S Hunger, ...
Arthritis & Rheumatism 62 (5), 1469-1477, 2010
1512010
Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy
AM Innes, LE Seargeant, K Balachandra, CR Roe, RJA Wanders, ...
Pediatric research 47 (1), 43-43, 2000
1442000
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome
FP Bernier, O Caluseriu, S Ng, J Schwartzentruber, KJ Buckingham, ...
The American Journal of Human Genetics 90 (5), 925-933, 2012
1332012
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16
BS Chang, X Piao, A Bodell, L Basel‐Vanagaite, R Straussberg, ...
Annals of Neurology: Official Journal of the American Neurological …, 2003
1272003
SLC39A8 deficiency: a disorder of manganese transport and glycosylation
JH Park, M Hogrebe, M Grüneberg, I DuChesne, L Ava, J Reunert, ...
The American Journal of Human Genetics 97 (6), 894-903, 2015
1232015
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ...
Nature genetics 49 (1), 36-45, 2017
1222017
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ...
Nature cell biology 17 (8), 1074-1087, 2015
1102015
Update on Kleefstra syndrome
MH Willemsen, AT Vulto-van Silfhout, WM Nillesen, WM Wissink-Lindhout, ...
Molecular syndromology 2 (3-5), 202-212, 2011
1032011
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked …
FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ...
Human molecular genetics 23 (11), 2888-2900, 2014
1022014
Mutations in PIK3R1 cause SHORT syndrome
DA Dyment, AC Smith, D Alcantara, JA Schwartzentruber, ...
The American Journal of Human Genetics 93 (1), 158-166, 2013
992013
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ...
The American Journal of Human Genetics 97 (2), 343-352, 2015
982015
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome
AE Lin, ME Alexander, SD Colan, B Kerr, KA Rauen, J Noonan, J Baffa, ...
American Journal of Medical Genetics Part A 155 (3), 486-507, 2011
922011
The Role of PIEZO2 in Human Mechanosensation
AT Chesler, M Szczot, D Bharucha-Goebel, M Čeko, S Donkervoort, ...
New England Journal of Medicine 375 (14), 1355-1364, 2016
912016
The system can't perform the operation now. Try again later.
Articles 1–20