Late presentation of cancer in compound heterozygote PMS2 mutation carrier

nork van Galen, Paulien P, Perrier, Renee, Bernier, Francois P
Argitaratua 2011

The Developmental-Genetics of Canalization

nork Hallgrimsson, Benedikt, Green, Rebecca M., Katz, David, Fish, Jennifer L., Bernier, Francois P.J., Roseman, Charles C., Young, Nathan M., Cheverud, James M., Marcucio, Ralph S.
Argitaratua izan da Semin Cell Dev Biol (2018)

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID)

nork Qiao, Ying, Mercier, Eloi, Dastan, Jila, Hurlburt, Jane, McGillivray, Barbara, Chudley, Albert E, Farrell, Sandra, Bernier, Francois P, Lewis, ME Suzanne, Pavlidis, Paul, Rajcan-Separovic, Evica
Argitaratua 2014

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

nork 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.
Argitaratua izan da Hum Mutat (2015)

Fully Automatic Landmarking of Syndromic 3D Facial Surface Scans Using 2D Images

nork Bannister, Jordan J., Crites, Sebastian R., Aponte, J. David, Katz, David C., Wilms, Matthias, Klein, Ophir D., Bernier, Francois P. J., Spritz, Richard A., Hallgrímsson, Benedikt, Forkert, Nils D.
Argitaratua izan da Sensors (Basel) (2020)

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

nork 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.
Argitaratua izan da Am J Hum Genet (2015)

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

nork 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
Argitaratua izan da 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

nork 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
Argitaratua izan da Hum Mutat (2015)

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

nork 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
Argitaratua izan da Eur J Hum Genet (2018)

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

nork 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
Argitaratua izan da Life Sci Alliance (2019)

Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

nork Aldinger, Kimberly A., Mosca, Stephen J., Tétreault, Martine, Dempsey, Jennifer C., Ishak, Gisele E., Hartley, Taila, Phelps, Ian G., Lamont, Ryan E., O’Day, Diana R., Basel, Donald, Gripp, Karen W., Baker, Laura, Stephan, Mark J., Bernier, Francois P., Boycott, Kym M., Majewski, Jacek, Parboosingh, Jillian S., Innes, A. Micheil, Doherty, Dan
Argitaratua 2014

Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

nork Aldinger, Kimberly A., Mosca, Stephen J., Tétreault, Martine, Dempsey, Jennifer C., Ishak, Gisele E., Hartley, Taila, Phelps, Ian G., Lamont, Ryan E., O’Day, Diana R., Basel, Donald, Gripp, Karen W., Baker, Laura, Stephan, Mark J., Bernier, Francois P., Boycott, Kym M., Majewski, Jacek, Parboosingh, Jillian S., Innes, A. Micheil, Doherty, Dan
Argitaratua 2014

Expansion of phenotype and genotypic data in CRB2-related syndrome

nork Lamont, Ryan E, Tan, Wen-Hann, Innes, A Micheil, Parboosingh, Jillian S, Schneidman-Duhovny, Dina, Rajkovic, Aleksandar, Pappas, John, Altschwager, Pablo, DeWard, Stephanie, Fulton, Anne, Gray, Kathryn J, Krall, Max, Mehta, Lakshmi, Rodan, Lance H, Saller, Devereux N, Steele, Deanna, Stein, Deborah, Yatsenko, Svetlana A, Bernier, François P, Slavotinek, Anne M
Argitaratua izan da Eur J Hum Genet (2016)

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

nork 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.
Argitaratua 2014

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

nork Tyson, Christine, Qiao, Ying, Harvard, Chansonette, Liu, Xudong, Bernier, Francois P, McGillivray, Barbara, Farrell, Sandra A, Arbour, Laura, Chudley, Albert E, Clarke, Lorne, Gibson, William, Dyack, Sarah, McLeod, Ross, Costa, Teresa, VanAllen, Margot I, Yong, Siu-li, Graham, Gail E, MacLeod, Patrick, Patel, Millan S, Hurlburt, Jane, Holden, Jeanette JA, Lewis, Suzanne ME, Rajcan-Separovic, Evica
Argitaratua 2008

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

nork Bernier, Francois P., Caluseriu, Oana, Ng, Sarah, Schwartzentruber, Jeremy, Buckingham, Kati J., Innes, A. Micheil, Jabs, Ethylin Wang, Innis, Jeffrey W., Schuette, Jane L., Gorski, Jerome L., Byers, Peter H., Andelfinger, Gregor, Siu, Victoria, Lauzon, Julie, Fernandez, Bridget A., McMillin, Margaret, Scott, Richard H., Racher, Hilary, Majewski, Jacek, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Parboosingh, Jillian S.
Argitaratua 2012

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

nork Beaulieu, Chandree L., Majewski, Jacek, Schwartzentruber, Jeremy, Samuels, Mark E., Fernandez, Bridget A., Bernier, Francois P., Brudno, Michael, Knoppers, Bartha, Marcadier, Janet, Dyment, David, Adam, Shelin, Bulman, Dennis E., Jones, Steve J.M., Avard, Denise, Nguyen, Minh Thu, Rousseau, Francois, Marshall, Christian, Wintle, Richard F., Shen, Yaoqing, Scherer, Stephen W., Friedman, Jan M., Michaud, Jacques L., Boycott, Kym M.
Argitaratua 2014

The Alberta Pregnancy Outcomes and Nutrition (APrON) cohort study: rationale and methods

nork Kaplan, Bonnie J., Giesbrecht, Gerald F., Leung, Brenda M.Y., Field, Catherine J., Dewey, Deborah, Bell, Rhonda C., Manca, Donna P., O'Beirne, Maeve, Johnston, David W., Pop, Victor J., Singhal, Nalini, Gagnon, Lisa, Bernier, Francois P., Eliasziw, Misha, McCargar, Linda J., Kooistra, Libbe, Farmer, Anna, Cantell, Marja, Goonewardene, Laki, Casey, Linda M., Letourneau, Nicole, Martin, Jonathan W.
Argitaratua izan da Matern Child Nutr (2012)

De novo variants in MPP5 cause global developmental delay and behavioral changes

nork Sterling, Noelle, Duncan, Anna R, Park, Raehee, Koolen, David A, Shi, Jiahai, Cho, Seo-Hee, Benke, Paul J, Grant, Patricia E, Genetti, Casie A, VanNoy, Grace E, Juusola, Jane, McWalter, Kirsty, Parboosingh, Jillian S, Lamont, Ryan E, Bernier, Francois P, Smith, Christopher, Harris, David J, Stegmann, Alexander P A, Innes, A Micheil, Kim, Seonhee, Agrawal, Pankaj B
Argitaratua izan da Hum Mol Genet (2020)

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

nork 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.
Argitaratua 2013