Late presentation of cancer in compound heterozygote PMS2 mutation carrier

Por van Galen, Paulien P, Perrier, Renee, Bernier, Francois P
Publicado em 2011

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

Por 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
Publicado em 2014

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

Por 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.
Publicado no Hum Mutat (2015)

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

Por 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.
Publicado no Am J Hum Genet (2015)

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

Por 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
Publicado no 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

Por 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
Publicado no Hum Mutat (2015)

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

Por 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
Publicado em 2014

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

Por 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
Publicado em 2014

Expansion of phenotype and genotypic data in CRB2-related syndrome

Por 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
Publicado no Eur J Hum Genet (2016)

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 em 2014

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

Por 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
Publicado em 2008

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

Por 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.
Publicado em 2012

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

Por 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.
Publicado em 2014

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

Por 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.
Publicado em 2013

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

Por 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.
Publicado em 2011

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Por Lovric, Svjetlana, Goncalves, Sara, Gee, Heon Yung, Oskouian, Babak, Srinivas, Honnappa, Choi, Won-Il, Shril, Shirlee, Ashraf, Shazia, Tan, Weizhen, Rao, Jia, Airik, Merlin, Schapiro, David, Braun, Daniela A., Sadowski, Carolin E., Widmeier, Eugen, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Girik, Vladimir, Capitani, Guido, Suh, Jung H., Lachaussée, Noëlle, Arrondel, Christelle, Patat, Julie, Gribouval, Olivier, Furlano, Monica, Boyer, Olivia, Schmitt, Alain, Vuiblet, Vincent, Hashmi, Seema, Wilcken, Rainer, Bernier, Francois P., Innes, A. Micheil, Parboosingh, Jillian S., Lamont, Ryan E., Midgley, Julian P., Wright, Nicola, Majewski, Jacek, Zenker, Martin, Schaefer, Franz, Kuss, Navina, Greil, Johann, Giese, Thomas, Schwarz, Klaus, Catheline, Vilain, Schanze, Denny, Franke, Ingolf, Sznajer, Yves, Truant, Anne S., Adams, Brigitte, Désir, Julie, Biemann, Ronald, Pei, York, Ars, Elisabet, Lloberas, Nuria, Madrid, Alvaro, Dharnidharka, Vikas R., Connolly, Anne M., Willing, Marcia C., Cooper, Megan A., Lifton, Richard P., Simons, Matias, Riezman, Howard, Antignac, Corinne, Saba, Julie D., Hildebrandt, Friedhelm
Publicado no J Clin Invest (2017)

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Por Wheway, Gabrielle, Schmidts, Miriam, Mans, Dorus A., Szymanska, Katarzyna, Nguyen, Thanh-Minh T., Racher, Hilary, Phelps, Ian G., Toedt, Grischa, Kennedy, Julie, Wunderlich, Kirsten A., Sorusch, Nasrin, Abdelhamed, Zakia A., Natarajan, Subaashini, Herridge, Warren, van Reeuwijk, Jeroen, Horn, Nicola, Boldt, Karsten, Parry, David A., Letteboer, Stef J.F., Roosing, Susanne, Adams, Matthew, Bell, Sandra M., Bond, Jacquelyn, Higgins, Julie, Morrison, Ewan E., Tomlinson, Darren C., Slaats, Gisela G., van Dam, Teunis J. P., Huang, Lijia, Kessler, Kristin, Giessl, Andreas, Logan, Clare V., Boyle, Evan A., Shendure, Jay, Anazi, Shamsa, Aldahmesh, Mohammed, Al Hazzaa, Selwa, Hegele, Robert A., Ober, Carole, Frosk, Patrick, Mhanni, Aizeddin A., Chodirker, Bernard N., Chudley, Albert E., Lamont, Ryan, Bernier, Francois P., Beaulieu, Chandree L., Gordon, Paul, Pon, Richard T., Donahue, Clem, Barkovich, A. James, Wolf, Louis, Toomes, Carmel, Thiel, Christian T., Boycott, Kym M., McKibbin, Martin, Inglehearn, Chris F., Stewart, Fiona, Omran, Heymut, Huynen, Martijn A., Sergouniotis, Panagiotis I., Alkuraya, Fowzan S., Parboosingh, Jillian S., Innes, A Micheil, Willoughby, Colin E., Giles, Rachel H., Webster, Andrew R., Ueffing, Marius, Blacque, Oliver, Gleeson, Joseph G., Wolfrum, Uwe, Beales, Philip L., Gibson, Toby, Doherty, Dan, Mitchison, Hannah M., Roepman, Ronald, Johnson, Colin A.
Publicado no Nat Cell Biol (2015)