Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8
Boycott, Kym M., Beaulieu, Chandree L., Kernohan, Kristin D., Gebril, Ola H., Mhanni, Aziz, Chudley, Albert E., Redl, David, Qin, Wen, Hampson, Sarah, Küry, Sébastien, Tetreault, Martine, Puffenberger, Erik G., Scott, James N., Bezieau, Stéphane, Reis, André, Uebe, Steffen, Schumacher, Johannes, Hegele, Robert A., McLeod, D. Ross, Gálvez-Peralta, Marina, Majewski, Jacek, Ramaekers, Vincent T., Nebert, Daniel W., Innes, A. Micheil, Parboosingh, Jillian S., Abou Jamra, Rami
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
Get full text
Journal Article
Web Resource
Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome
Hood, Rebecca L., Lines, Matthew A., Nikkel, Sarah M., Schwartzentruber, Jeremy, Beaulieu, Chandree, Nowaczyk, Małgorzata J.M., Allanson, Judith, Kim, Chong Ae, Wieczorek, Dagmar, Moilanen, Jukka S., Lacombe, Didier, Gillessen-Kaesbach, Gabriele, Whiteford, Margo L., Quaio, Caio Robledo D.C., Gomy, Israel, Bertola, Debora R., Albrecht, Beate, Platzer, Konrad, McGillivray, George, Zou, Ruobing, McLeod, D. Ross, Chudley, Albert E., Chodirker, Bernard N., Marcadier, Janet, Majewski, Jacek, Bulman, Dennis E., White, Susan M., Boycott, Kym M.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
Get full text
Journal Article
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, Lijia, Szymanska, Katarzyna, Jensen, Victor L., Janecke, Andreas R., Innes, A. Micheil, Davis, Erica E., Frosk, Patrick, Li, Chunmei, Willer, Jason R., Chodirker, Bernard N., Greenberg, Cheryl R., McLeod, D. Ross, Bernier, Francois P., Chudley, Albert E., Müller, Thomas, Shboul, Mohammad, Logan, Clare V., Loucks, Catrina M., Beaulieu, Chandree L., Bowie, Rachel V., Bell, Sandra M., Adkins, Jonathan, Zuniga, Freddi I., Ross, Kevin D., Wang, Jian, Ban, Matthew R., Becker, Christian, Nürnberg, Peter, Douglas, Stuart, Craft, Cheryl M., Akimenko, Marie-Andree, Hegele, Robert A., Ober, Carole, Utermann, Gerd, Bolz, Hanno J., Bulman, Dennis E., Katsanis, Nicholas, Blacque, Oliver E., Doherty, Dan, Parboosingh, Jillian S., Leroux, Michel R., Johnson, Colin A., Boycott, Kym M.
Published in American journal of human genetics (09.12.2011)
Published in American journal of human genetics (09.12.2011)
Get full text
Journal Article
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome
Aretz, Stefan, Stienen, Dietlinde, Uhlhaas, Siegfried, Loff, Steffan, Back, Walter, Pagenstecher, Constanze, McLeod, D. Ross, Graham, Gail E., Mangold, Elisabeth, Santer, René, Propping, Peter, Friedl, Waltraut
Published in Human mutation (01.12.2005)
Published in Human mutation (01.12.2005)
Get full text
Journal Article
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
André, Jean-Luc, Lama, Giuliana, Joseph, Mark, Loirat, Chantal, Illies, Friederike, Bogdanovic, Radovan, Milford, David V, Saraiva, Jorge M, Stein, Anja, Takashima, Hiroshi, Tizard, Jane, Rosenbarker, Lisa, Cockfield, Sandra, Petty, Elizabeth M, John, Joy, Burguet, Antoine, Schmidt, Beate, Smith, Graham C, Lupski, James R, Weksberg, Rosanna, Cordeiro, Isabel, Yan, Jiong, Fründ, Stefan, Stankiewicz, Pawel, McLeod, D. Ross, Stockton, David W, Rodrigo, Francisco, Kaitila, Ilkka, Spranger, Jürgen, Thiele, Hannelore, Boerkoel, Cornelius F
Published in Nature genetics (01.02.2002)
Published in Nature genetics (01.02.2002)
Get full text
Journal Article
Infantile Ictal Apneas in a Child With Williams-Beuren Syndrome
Myers, Kenneth A., MD, PhD, McLeod, D. Ross, MD, Bello-Espinosa, Luis, MD
Published in Pediatric neurology (01.02.2013)
Published in Pediatric neurology (01.02.2013)
Get full text
Journal Article
Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems
Williams, Stephen R., Aldred, Micheala A., Der Kaloustian, Vazken M., Halal, Fahed, Gowans, Gordon, McLeod, D. Ross, Zondag, Sara, Toriello, Helga V., Magenis, R. Ellen, Elsea, Sarah H.
Published in American journal of human genetics (13.08.2010)
Published in American journal of human genetics (13.08.2010)
Get full text
Journal Article
Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability
Bögershausen, Nina, Shahrzad, Nassim, Chong, Jessica X., von Kleist-Retzow, Jürgen-Christoph, Stanga, Daniela, Li, Yun, Bernier, Francois P., Loucks, Catrina M., Wirth, Radu, Puffenberger, Eric G., Hegele, Robert A., Schreml, Julia, Lapointe, Gabriel, Keupp, Katharina, Brett, Christopher L., Anderson, Rebecca, Hahn, Andreas, Innes, A. Micheil, Suchowersky, Oksana, Mets, Marilyn B., Nürnberg, Gudrun, McLeod, D. Ross, Thiele, Holger, Waggoner, Darrel, Altmüller, Janine, Boycott, Kym M., Schoser, Benedikt, Nürnberg, Peter, Ober, Carole, Heller, Raoul, Parboosingh, Jillian S., Wollnik, Bernd, Sacher, Michael, Lamont, Ryan E.
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
Get full text
Journal Article
Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism
Phillips, Eliza A, Caluseriu, Oana, Schlade-Bartusiak, Kamilla, Chernos, Judy, McLeod, D Ross, Thomas, Mary Ann
Published in Clinical dysmorphology (01.10.2021)
Published in Clinical dysmorphology (01.10.2021)
Get more information
Journal Article
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome
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
Published in Nature communications (22.07.2014)
Published in Nature communications (22.07.2014)
Get full text
Journal Article
Matching Two Independent Cohorts Validates DPH1 as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies
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
Published in Human mutation (01.10.2015)
Published in Human mutation (01.10.2015)
Get full text
Journal Article
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome
Boycott, Kym M., Parboosingh, Jillian S., Scott, James N., McLeod, D. Ross, Greenberg, Cheryl R., Fujiwara, T. Mary, Mah, Jean K., Midgley, Julian, Wade, Andrew, Bernier, Francois P., Chodirker, Bernard N., Bunge, Martin, Innes, A. Micheil
Published in American journal of medical genetics. Part A (01.08.2007)
Published in American journal of medical genetics. Part A (01.08.2007)
Get full text
Journal Article
Familial Melanonychia Striata
Leung, Alexander K.C., MBBS, FRCPC, FRCP(UK & Irel), FRCPCH, Ross McLeod, D., MD, FRCPC, FCCMG
Published in Journal of the National Medical Association (01.06.2008)
Published in Journal of the National Medical Association (01.06.2008)
Get full text
Journal Article
Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification
Boycott, Kym M., Flavelle, Shauna, Bureau, Alexandre, Glass, Hannah C., Fujiwara, T. Mary, Wirrell, Elaine, Davey, Krista, Chudley, Albert E., Scott, James N., McLeod, D. Ross, Parboosingh, Jillian S.
Published in American journal of human genetics (01.09.2005)
Published in American journal of human genetics (01.09.2005)
Get full text
Journal Article
Intellectual disability associated with a homozygous missense mutation in THOC6
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
Published in Orphanet journal of rare diseases (26.04.2013)
Published in Orphanet journal of rare diseases (26.04.2013)
Get full text
Journal Article
Dominantly‐inherited lop ears
Leung, Alexander K.C., Kong, Albert Y.F., Robson, W. Lane M., McLeod, D. Ross
Published in American journal of medical genetics. Part A (01.10.2007)
Published in American journal of medical genetics. Part A (01.10.2007)
Get full text
Journal Article
A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America
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
Published in American journal of medical genetics. Part A (01.05.2012)
Published in American journal of medical genetics. Part A (01.05.2012)
Get full text
Journal Article
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Morimoto, Marie, Yu, Zhongxin, Stenzel, Peter, Clewing, J Marietta, Najafian, Behzad, Mayfield, Christy, Hendson, Glenda, Weinkauf, Justin G, Gormley, Andrew K, Parham, David M, Ponniah, Umakumaran, André, Jean-Luc, Asakura, Yumi, Basiratnia, Mitra, Bogdanović, Radovan, Bokenkamp, Arend, Bonneau, Dominique, Buck, Anna, Charrow, Joel, Cochat, Pierre, Cordeiro, Isabel, Deschenes, Georges, Fenkçi, M Semin, Frange, Pierre, Fründ, Stefan, Fryssira, Helen, Guillen-Navarro, Encarna, Keller, Kory, Kirmani, Salman, Kobelka, Christine, Lamfers, Petra, Levtchenko, Elena, Lewis, David B, Massella, Laura, McLeod, D Ross, Milford, David V, Nobili, François, Saraiva, Jorge M, Semerci, C Nur, Shoemaker, Lawrence, Stajić, Nataša, Stein, Anja, Taha, Doris, Wand, Dorothea, Zonana, Jonathan, Lücke, Thomas, Boerkoel, Cornelius F
Published in Orphanet journal of rare diseases (22.09.2012)
Published in Orphanet journal of rare diseases (22.09.2012)
Get full text
Journal Article
Clinical genetics and the Hutterite population: A review of Mendelian disorders
Boycott, Kym M., Parboosingh, Jillian S., Chodirker, Bernie N., Lowry, R. Brian, McLeod, D. Ross, Morris, Jackie, Greenberg, Cheryl R., Chudley, Albert E., Bernier, Francois P., Midgley, Julian, Møller, Lisbeth Birk, Innes, A. Micheil
Published in American journal of medical genetics. Part A (15.04.2008)
Published in American journal of medical genetics. Part A (15.04.2008)
Get full text
Journal Article
A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population
Boycott, Kym M., Beaulieu, Chandree, Puffenberger, Erik G., McLeod, D. Ross, Parboosingh, Jillian S., Innes, A. Micheil
Published in American journal of medical genetics. Part A (01.06.2010)
Published in American journal of medical genetics. Part A (01.06.2010)
Get full text
Journal Article