Neuropathy due to impaired axonal transport of non-fragmented mitochondria in MYH14 mutation carriers—Authors’ reply

Autor Pfeffer, Gerald, Innes, A. Micheil, Shutt, Timothy E.
Vydáno v EBioMedicine (2019)

Intracerebral hemorrhage in a young man

Autor Coutts, Shelagh B., Matysiak-Scholze, Uta, Kohlhase, Jürgen, Innes, A. Micheil
Vydáno 2011

A rational approach to the child with mental retardation for the paediatrician

Autor Lemay, Jean-François, Herbert, Anthony R, Dewey, Deborah M, Innes, A Micheil
Vydáno 2003

An unusual tumor spectrum in Lynch syndrome caused by MSH6 mutation

Autor Perrier, Renee L, Van Galen, Paulein, Pasieka, Janice L, Magliocco, Tony, Innes, A Micheil
Vydáno 2010

The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function

Autor Gandini, Maria A., Souza, Ivana A., Ferron, Laurent, Innes, A. Micheil, Zamponi, Gerald W.
Vydáno v Mol Brain (2021)

Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import

Autor Zhao, Tian, Goedhart, Caitlin, Pfeffer, Gerald, Greenway, Steven C, Lines, Matthew, Khan, Aneal, Innes, A Micheil, Shutt, Timothy E
Vydáno v Int J Mol Sci (2020)

Myofibrillar myopathy due to TTN mutation in a Canadian family sharing the British founder haplotype

Autor Pfeffer, Gerald, Joseph, Jeffrey T., Innes, A. Micheil, Frizzell, J. Bevan, Wilson, Ian J., Brownell, A. Keith W., Chinnery, Patrick F.
Vydáno v Can J Neurol Sci (2014)

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population

Autor Triggs‐Raine, Barbara, Dyck, Tamara, Boycott, Kym M., Innes, A. Micheil, Ober, Carole, Parboosingh, Jillian S., Botkin, Alexis, Greenberg, Cheryl R., Spriggs, Elizabeth L.
Vydáno v Mol Genet Genomic Med (2016)

Congenital rickets caused by maternal vitamin D deficiency

Autor Innes, A Micheil, Seshia, Molly M, Prasad, Chitra, Al Saif, Saif, Friesen, Frank R, Chudley, Albert E, Reed, Martin, Dilling, Louise A, Haworth, James C, Greenberg, Cheryl R
Vydáno 2002

GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Cau...

Autor Au, P.Y. Billie, You, Jing, Caluseriu, Oana, Schwartzentruber, Jeremy, Majewski, Jacek, Bernier, Francois P., Ferguson, Marcia, Valle, David, Parboosingh, Jillian S., Sobreira, Nara, Innes, A. Micheil, Kline, Antonie D.
Vydáno v Hum Mutat (2015)

A Shared Founder Mutation Underlies Restrictive Dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite Patients in North America

Autor Loucks, Catrina, Parboosingh, Jillian S., Chong, Jessica X., Ober, Carole, Siu, Victoria M., Hegele, Robert A., Rupar, C. Anthony, McLeod, D. Ross, Pinto, Alfredo, Chudley, Albert E., Innes, A. Micheil
Vydáno v Am J Med Genet A (2012)

Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype

Autor Sawyer, Sarah L., Tian, Lei, Kähkönen, Marketta, Schwartzentruber, Jeremy, Kircher, Martin, Majewski, Jacek, Dyment, David A., Innes, A. Micheil, Boycott, Kym M., Moreau, Lisa A., Moilanen, Jukka S., Greenberg, Roger A.
Vydáno v Cancer Discov (2014)

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

Autor Shamseldin, Hanan, Alazami, Anas M., Manning, Melanie, Hashem, Amal, Caluseiu, Oana, Tabarki, Brahim, Esplin, Edward, Schelley, Susan, Innes, A. Micheil, Parboosingh, Jillian S., Lamont, Ryan, Majewski, Jacek, Bernier, Francois P., Alkuraya, Fowzan S.
Vydáno v Am J Hum Genet (2015)

A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

Autor Buchert, Rebecca, Tawamie, Hasan, Smith, Christopher, Uebe, Steffen, Innes, A. Micheil, Al Hallak, Bassam, Ekici, Arif B., Sticht, Heinrich, Schwarze, Bernd, Lamont, Ryan E., Parboosingh, Jillian S., Bernier, Francois P., Abou Jamra, Rami
Vydáno v Am J Hum Genet (2014)

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial and ectodermal anomalies

Autor Loucks, Catrina M., Parboosingh, Jillian S., Shaheen, Ranad, Bernier, Francois P., McLeod, D. Ross, Seidahmed, Mohammed Z., Puffenberger, Erik G., Ober, Carole, Hegele, Robert A., Boycott, Kym M., Alkuraya, Fowzan S., Innes, A. Micheil
Vydáno v Hum Mutat (2015)

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies

Autor Krall, Max, Htun, Stephanie, Schnur, Rhonda E., Brooks, Alice S., Baker, Laura, de Alba Campomanes, Alejandra, Lamont, Ryan E., Gripp, Karen W., Schneidman-Duhovny, Dina, Innes, A. Micheil, Mancini, Grazia M. S., Slavotinek, Anne M.
Vydáno v Eur J Hum Genet (2019)

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

Autor Dyment, David A., Terhal, Paulien A., Rustad, Cecilie F., Tveten, Kristian, Griffith, Christopher, Jayakar, Parul, Shinawi, Marwan, Ellingwood, Sara, Smith, Rosemarie, van Gassen, Koen, McWalter, Kirsty, Innes, A. Micheil, Lines, Matthew A.
Vydáno v Eur J Hum Genet (2019)

Prenatal features of Costello syndrome: Ultrasonographic findings and atrial tachycardia

Autor Lin, Angela E., O’Brien, Barbara, Demmer, Laurie A., Almeda, Kristina K., Blanco, Cynthia L., Glasow, Patrick F., Berul, Charles I., Hamilton, Robert, Innes, A. Micheil, Lauzon, Julie L., Sol-Church, Katia, Gripp, Karen W.
Vydáno v Prenat Diagn (2009)

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

Autor van Dijk, Tessa, Ferdinandusse, Sacha, Ruiter, Jos P. N., Alders, Mariëlle, Mathijssen, Inge B., Parboosingh, Jillian S., Innes, A. Micheil, Meijers-Heijboer, Hanne, Poll-The, Bwee Tien, Bernier, Francois P., Wanders, Ronald J. A., Lamont, Ryan E., Baas, Frank
Vydáno v Eur J Hum Genet (2018)

PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes

Autor Zhao, Tian, Goedhart, Caitlin M, Sam, Pingdewinde N, Sabouny, Rasha, Lingrell, Susanne, Cornish, Adam J, Lamont, Ryan E, Bernier, Francois P, Sinasac, David, Parboosingh, Jillian S, Vance, Jean E, Claypool, Steven M, Innes, A Micheil, Shutt, Timothy E
Vydáno v Life Sci Alliance (2019)