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

le Pfeffer, Gerald, Innes, A. Micheil, Shutt, Timothy E.
Foilsithe in EBioMedicine (2019)

Intracerebral hemorrhage in a young man

le Coutts, Shelagh B., Matysiak-Scholze, Uta, Kohlhase, Jürgen, Innes, A. Micheil
Foilsithe 2011

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

le Lemay, Jean-François, Herbert, Anthony R, Dewey, Deborah M, Innes, A Micheil
Foilsithe 2003

An unusual tumor spectrum in Lynch syndrome caused by MSH6 mutation

le Perrier, Renee L, Van Galen, Paulein, Pasieka, Janice L, Magliocco, Tony, Innes, A Micheil
Foilsithe 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

le Gandini, Maria A., Souza, Ivana A., Ferron, Laurent, Innes, A. Micheil, Zamponi, Gerald W.
Foilsithe in Mol Brain (2021)

Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import

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

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

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

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

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

Congenital rickets caused by maternal vitamin D deficiency

le 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
Foilsithe 2002

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

le 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.
Foilsithe in Hum Mutat (2015)

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

le 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
Foilsithe in Am J Med Genet A (2012)

Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype

le 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.
Foilsithe in Cancer Discov (2014)

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

le 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.
Foilsithe in Am J Hum Genet (2015)

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

le 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
Foilsithe in 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

le 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
Foilsithe in Hum Mutat (2015)

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

le 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.
Foilsithe in Eur J Hum Genet (2019)

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

le 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.
Foilsithe in Eur J Hum Genet (2019)

Prenatal features of Costello syndrome: Ultrasonographic findings and atrial tachycardia

le 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.
Foilsithe in Prenat Diagn (2009)

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

le 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
Foilsithe in Eur J Hum Genet (2018)

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

le 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
Foilsithe in Life Sci Alliance (2019)