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

por Pfeffer, Gerald, Innes, A. Micheil, Shutt, Timothy E.
Publicado 2019

An unusual tumor spectrum in Lynch syndrome caused by MSH6 mutation

por Perrier, Renee L, Van Galen, Paulein, Pasieka, Janice L, Magliocco, Tony, Innes, A Micheil
Publicado 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

por Gandini, Maria A., Souza, Ivana A., Ferron, Laurent, Innes, A. Micheil, Zamponi, Gerald W.
Publicado 2021

Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import

por Zhao, Tian, Goedhart, Caitlin, Pfeffer, Gerald, Greenway, Steven C, Lines, Matthew, Khan, Aneal, Innes, A Micheil, Shutt, Timothy E
Publicado 2020

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

por Triggs‐Raine, Barbara, Dyck, Tamara, Boycott, Kym M., Innes, A. Micheil, Ober, Carole, Parboosingh, Jillian S., Botkin, Alexis, Greenberg, Cheryl R., Spriggs, Elizabeth L.
Publicado 2016

Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo

por Blackwell, Danielle L, Fraser, Sherri D, Caluseriu, Oana, Vivori, Claudia, Tyndall, Amanda V, Lamont, Ryan E, Parboosingh, Jillian S, Innes, A Micheil, Bernier, François P, Childs, Sarah J
Publicado 2022

From “ACAN” to “I CAN”: Restoring wellness in a boy with severe osteochondritis dissecans through diagnostic precision combined with optimal medical, surgical and rehabilitation ma...

por Ochoa, Maria, Yang, Ashlee, Kollias, Carrie, Bakir, Christina, Carsen, Sasha, Lazier, Joanna, Innes, A. Micheil, Pagé, Marika, Dawrant, Jonathan, Robinson, Marie-Eve, Koujok, Khaldoun, Shenouda, Nazih, Rauch, Frank, Ward, Leanne M.
Publicado 2023

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

por 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.
Publicado 2019

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

por 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
Publicado 2019

Intellectual disability associated with a homozygous missense mutation in THOC6

por Beaulieu, Chandree L, Huang, Lijia, Innes, A Micheil, Akimenko, Marie-Andree, Puffenberger, Erik G, Schwartz, Charles, Jerry, Paul, Ober, Carole, Hegele, Robert A, McLeod, D Ross, Schwartzentruber, Jeremy, Majewski, Jacek, Bulman, Dennis E, Parboosingh, Jillian S, Boycott, Kym M
Publicado 2013

The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy

por Almutawa, Walaa, Smith, Christopher, Sabouny, Rasha, Smit, Ryan B., Zhao, Tian, Wong, Rachel, Lee-Glover, Laurie, Desrochers-Goyette, Justine, Ilamathi, Hema Saranya, Suchowersky, Oksana, Germain, Marc, Mains, Paul E., Parboosingh, Jillian S., Pfeffer, Gerald, Innes, A. Micheil, Shutt, Timothy E.
Publicado 2019

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

por Punetha, Jaya, Karaca, Ender, Gezdirici, Alper, Lamont, Ryan E., Pehlivan, Davut, Marafi, Dana, Appendino, Juan P., Hunter, Jill V., Akdemir, Zeynep C., Fatih, Jawid M., Jhangiani, Shalini N., Gibbs, Richard A., Innes, A. Micheil, Posey, Jennifer E., Lupski, James R.
Publicado 2019

De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder

por Werren, Elizabeth A., Guxholli, Alba, Jones, Natasha, Wagner, Matias, Hannibal, Iris, Granadillo, Jorge L., Tyndall, Amanda V., Moccia, Amanda, Kuehl, Ryan, Levandoski, Kristin M., Day-Salvatore, Debra L., Wheeler, Marsha, Chong, Jessica X., Bamshad, Michael J., Innes, A. Micheil, Pierson, Tyler Mark, Mackay, Joel P., Bielas, Stephanie L., Martin, Donna M.
Publicado 2023

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

por Lynch, Danielle C., Revil, Timothée, Schwartzentruber, Jeremy, Bhoj, Elizabeth J., Innes, A. Micheil, Lamont, Ryan E., Lemire, Edmond G., Chodirker, Bernard N., Taylor, Juliet P., Zackai, Elaine H., McLeod, D. Ross, Kirk, Edwin P., Hoover-Fong, Julie, Fleming, Leah, Savarirayan, Ravi, Majewski, Jacek, Jerome-Majewska, Loydie A., Parboosingh, Jillian S., Bernier, Francois P.
Publicado 2014

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

por Aref-Eshghi, Erfan, Bend, Eric G., Hood, Rebecca L., Schenkel, Laila C., Carere, Deanna Alexis, Chakrabarti, Rana, Nagamani, Sandesh C. S., Cheung, Sau Wai, Campeau, Philippe M., Prasad, Chitra, Siu, Victoria Mok, Brady, Lauren, Tarnopolsky, Mark A., Callen, David J., Innes, A. Micheil, White, Susan M., Meschino, Wendy S., Shuen, Andrew Y., Paré, Guillaume, Bulman, Dennis E., Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Hennekam, Raoul C., Boycott, Kym M., Schwartz, Charles E., Sadikovic, Bekim
Publicado 2018

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

por Rivière, Jean-Baptiste, Mirzaa, Ghayda M., O’Roak, Brian J., Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L., St-Onge, Judith, Schwartzentruber, Jeremy A., Gripp, Karen W., Nikkel, Sarah M., Worthylake, Thea, Sullivan, Christopher T., Ward, Thomas R., Butler, Hailly E., Kramer, Nancy A., Albrecht, Beate, Armour, Christine M., Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A., Innes, A. Micheil, Lauzon, Julie L., Lin, Angela E., Mancini, Grazia M. S., Meschino, Wendy S., Reggin, James D., Saggar, Anand K., Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Shendure, Jay, Graham, John M., Boycott, Kym M., Dobyns, William B.
Publicado 2012

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

por O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Au, P.Y. Billie, Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzetis, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.
Publicado 2015

Automated syndrome diagnosis by three-dimensional facial imaging

por Hallgrímsson, Benedikt, Aponte, J. David, Katz, David C., Bannister, Jordan J., Riccardi, Sheri L., Mahasuwan, Nick, McInnes, Brenda L., Ferrara, Tracey M., Lipman, Danika M., Neves, Amanda B., Spitzmacher, Jared A. J., Larson, Jacinda R., Bellus, Gary A., Pham, Anh M., Aboujaoude, Elias, Benke, Timothy A., Chatfield, Kathryn C., Davis, Shanlee M., Elias, Ellen R., Enzenauer, Robert W., French, Brooke M., Pickler, Laura L., Shieh, Joseph T. C., Slavotinek, Anne, Harrop, A. Robertson, Innes, A. Micheil, McCandless, Shawn E., McCourt, Emily A., Meeks, Naomi J. L., Tartaglia, Nicole R., Tsai, Anne C.-H., Wyse, J. Patrick H., Bernstein, Jonathan A., Sanchez-Lara, Pedro A., Forkert, Nils D., Bernier, Francois P., Spritz, Richard A., Klein, Ophir D.
Publicado 2020

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

por van Woerden, Geeske M., Bos, Melanie, de Konink, Charlotte, Distel, Ben, Avagliano Trezza, Rossella, Shur, Natasha E., Barañano, Kristin, Mahida, Sonal, Chassevent, Anna, Schreiber, Allison, Erwin, Angelika L., Gripp, Karen W., Rehman, Fatima, Brulleman, Saskia, McCormack, Róisín, de Geus, Gwynna, Kalsner, Louisa, Sorlin, Arthur, Bruel, Ange‐Line, Koolen, David A., Gabriel, Melissa K., Rossi, Mari, Fitzpatrick, David R., Wilkie, Andrew O.M., Calpena, Eduardo, Johnson, David, Brooks, Alice, van Slegtenhorst, Marjon, Fleischer, Julie, Groepper, Daniel, Lindstrom, Kristin, Innes, A. Micheil, Goodwin, Allison, Humberson, Jennifer, Noyes, Amanda, Langley, Katherine G., Telegrafi, Aida, Blevins, Amy, Hoffman, Jessica, Guillen Sacoto, Maria J., Juusola, Jane, Monaghan, Kristin G., Punj, Sumit, Simon, Marleen, Pfundt, Rolph, Elgersma, Ype, Kleefstra, Tjitske
Publicado 2021

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

por Snijders Blok, Lot, Verseput, Jolijn, Rots, Dmitrijs, Venselaar, Hanka, Innes, A. Micheil, Stumpel, Connie, Õunap, Katrin, Reinson, Karit, Seaby, Eleanor G., McKee, Shane, Burton, Barbara, Kim, Katherine, van Hagen, Johanna M., Waisfisz, Quinten, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Li, Dong, Zackai, Elaine H., Sheppard, Sarah E., Keena, Beth, Hakonarson, Hakon, Roos, Andreas, Kohlschmidt, Nicolai, Cereda, Anna, Iascone, Maria, Rebessi, Erika, Kernohan, Kristin D., Campeau, Philippe M., Millan, Francisca, Taylor, Jesse A., Lochmüller, Hanns, Higgs, Martin R., Goula, Amalia, Bernhard, Birgitta, Velasco, Danita J., Schmanski, Andrew A., Stark, Zornitza, Gallacher, Lyndon, Pais, Lynn, Marcogliese, Paul C., Yamamoto, Shinya, Raun, Nicholas, Jakub, Taryn E., Kramer, Jamie M., den Hoed, Joery, Fisher, Simon E., Brunner, Han G., Kleefstra, Tjitske
Publicado 2022