Innes, A. Micheil

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Finding of Rare Disease Genes (FORGE) Canada Consortium, Rivière, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., et al. (2012) · Nature Genetics

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

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G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex

Piao, X., Hill, R. S., Bodell, A., Chang, B. S., Basel-Vanagaite, L., Straussberg, R., Dobyns, W. B., Qasrawi, B., Winter, R. M., Innes, A. M., et al. (2004) · Science

Fetal and Pediatric Neurological DisordersNeurogenesis and neuroplasticity mechanisms

Cited by 517

The Role of PIEZO2 in Human Mechanosensation

Chesler, A. T., Szczot, M., Bharucha-Goebel, D., Čeko, M., Donkervoort, S., Laubacher, C., Hayes, L. H., Alter, K., Zampieri, C., Stanley, C., et al. (2016) · New England Journal of Medicine

Tactile and Sensory InteractionsIon Channels and Receptors

Cited by 462

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Redin, C., Brand, H., Collins, R. L., Kammin, T., Mitchell, E., Hodge, J. C., Hanscom, C., Pillalamarri, V., Seabra, C. M., Abbott, M.-A., et al. (2017) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 334

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, V. L., Janecke, A. R., Innes, A. M., Davis, E. E., Frosk, P., Li, C., Willer, J. R., Chodirker, B. N., et al. (2011) · The American Journal of Human Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 194

Update on Kleefstra syndrome

Willemsen, M. H., Vulto-van Silfhout, A. T., Nillesen, W. M., Wissink-Lindhout, W. M., van Bokhoven, H., Philip, N., Berry-Kravis, E. M., Kini, U., van Ravenswaaij-Arts, C. M. A., Delle Chiaie, B., et al. (2011) · Molecular Syndromology

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 185

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

Boycott, K. M., Hartley, T., Biesecker, L. G., Gibbs, R. A., Innes, A. M., Riess, O., Belmont, J., Dunwoodie, S. L., Jojic, N., Lassmann, T., et al. (2019) · Cell

Genomics and Rare DiseasesConnective tissue disorders research

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DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Ji, J., Lee, H., Argiropoulos, B., Dorrani, N., Mann, J., Martinez-Agosto, J. A., Gomez-Ospina, N., Gallant, N., Bernstein, J. A., Hudgins, L., et al. (2015) · European Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 145

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency

Buchert, R., Tawamie, H., Smith, C., Uebe, S., Innes, A. M., Al Hallak, B., Ekici, A. B., Sticht, H., Schwarze, B., Lamont, R. E., et al. (2014) · The American Journal of Human Genetics

Metabolism and Genetic DisordersNeurological diseases and metabolism

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Clinical genetics and the Hutterite population: a review of Mendelian disorders.

Boycott, K. M., Parboosingh, J. S., Chodirker, B. N., Lowry, R. B., McLeod, D. R., Morris, J., Greenberg, C. R., Chudley, A. E., Bernier, F. P., Midgley, J., et al. (2008) · American Journal of Medical Genetics Part A

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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Lin‐Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders

Bashir, R. A., Dixit, A., Goedhart, C., Parboosingh, J. S., Innes, A. M., Care for Rare Canada Consortium, Ferreira, P., Hasan, S. U., & Au, P. B. (2017) · American Journal of Medical Genetics Part A

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

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