Late presentation of cancer in compound heterozygote PMS2 mutation carrier

av van Galen, Paulien P, Perrier, Renee, Bernier, Francois P
Publicerad 2011

The Developmental-Genetics of Canalization

av 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.
I publikationen Semin Cell Dev Biol (2018)

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

av 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
Publicerad 2014

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

av 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.
I publikationen Hum Mutat (2015)

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

av 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.
I publikationen Sensors (Basel) (2020)

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

av 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.
I publikationen Am J Hum Genet (2015)

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

av 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
I publikationen 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

av 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
I publikationen Hum Mutat (2015)

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

av 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
I publikationen Eur J Hum Genet (2018)

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

av 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
I publikationen Life Sci Alliance (2019)

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

av 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
Publicerad 2014

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

av 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
Publicerad 2014

Expansion of phenotype and genotypic data in CRB2-related syndrome

av 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
I publikationen Eur J Hum Genet (2016)

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

av 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.
Publicerad 2014

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

av 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
Publicerad 2008

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

av 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.
Publicerad 2012

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

av 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.
Publicerad 2014

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

av 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.
I publikationen Matern Child Nutr (2012)

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

av 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
I publikationen Hum Mol Genet (2020)

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

av 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.
Publicerad 2013