Familial deletion 18p syndrome: case report

av Maranda, Bruno, Lemieux, Nicole, Lemyre, Emmanuelle
Publicerad 2006

Favorable Long-Term Outcome Following Severe Neonatal Hyperammonemic Coma in a Patient with Argininosuccinate Synthetase Deficiency

av De Bie, Isabelle, Lemyre, Emmanuelle, Lambert, Marie
Publicerad 2011

Genetic Testing in a Cohort of Complex Esophageal Atresia

av Beauregard-Lacroix, Eliane, Tardif, Jessica, Lemyre, Emmanuelle, Kibar, Zoha, Faure, Christophe, Campeau, Philippe M.
I publikationen Mol Syndromol (2017)

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

av Deml, Brett, Reis, Linda M, Lemyre, Emmanuelle, Clark, Robin D, Kariminejad, Ariana, Semina, Elena V
I publikationen Eur J Hum Genet (2016)

SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay

av D’Amours, Guylaine, Langlois, Mathieu, Mathonnet, Géraldine, Fetni, Raouf, Nizard, Sonia, Srour, Myriam, Tihy, Frédérique, S Phillips, Michael, L Michaud, Jacques, Lemyre, Emmanuelle
I publikationen BMC Med Genomics (2014)

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

av Tucker, Tracy, Zahir, Farah R, Griffith, Malachi, Delaney, Allen, Chai, David, Tsang, Erica, Lemyre, Emmanuelle, Dobrzeniecka, Sylvia, Marra, Marco, Eydoux, Patrice, Langlois, Sylvie, Hamdan, Fadi F, Michaud, Jacques L, Friedman, Jan M
Publicerad 2014

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation

av Tucker, Tracy, Montpetit, Alexandre, Chai, David, Chan, Susanna, Chénier, Sébastien, Coe, Bradley P, Delaney, Allen, Eydoux, Patrice, Lam, Wan L, Langlois, Sylvie, Lemyre, Emmanuelle, Marra, Marco, Qian, Hong, Rouleau, Guy A, Vincent, David, Michaud, Jacques L, Friedman, Jan M
Publicerad 2011

Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples

av Huguet, Guillaume, Schramm, Catherine, Douard, Elise, Jiang, Lai, Labbe, Aurélie, Tihy, Frédérique, Mathonnet, Géraldine, Nizard, Sonia, Lemyre, Emmanuelle, Mathieu, Alexandre, Poline, Jean-Baptiste, Loth, Eva, Toro, Roberto, Schumann, Gunter, Conrod, Patricia, Pausova, Zdenka, Greenwood, Celia, Paus, Tomas, Bourgeron, Thomas, Jacquemont, Sébastien
I publikationen JAMA Psychiatry (2018)

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

av Chénier, Sébastien, Yoon, Grace, Argiropoulos, Bob, Lauzon, Julie, Laframboise, Rachel, Ahn, Joo Wook, Ogilvie, Caroline Mackie, Lionel, Anath C, Marshall, Christian R, Vaags, Andrea K, Hashemi, Bita, Boisvert, Karine, Mathonnet, Géraldine, Tihy, Frédérique, So, Joyce, Scherer, Stephen W, Lemyre, Emmanuelle, Stavropoulos, Dimitri J
Publicerad 2014

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis

av Piard, Juliette, Hu, Jia-Hua, Campeau, Philippe M, Rzońca, Sylwia, Van Esch, Hilde, Vincent, Elizabeth, Han, Mei, Rossignol, Elsa, Castaneda, Jennifer, Chelly, Jamel, Skinner, Cindy, Kalscheuer, Vera M, Wang, Ruihua, Lemyre, Emmanuelle, Kosińska, Joanna, Stawinski, Piotr, Bal, Jerzy, Hoffman, Dax A, Schwartz, Charles E, Van Maldergem, Lionel, Wang, Tao, Worley, Paul F
I publikationen Hum Mol Genet (2018)

CRTAP AND LEPRE1 MUTATIONS IN RECESSIVE OSTEOGENESIS IMPERFECTA

av Baldridge, Dustin, Schwarze, Ulrike, Morello, Roy, Lennington, Jennifer, Bertin, Terry K., Pace, James M., Pepin, Melanie G., Weis, MaryAnn, Eyre, David R., Walsh, Jennifer, Lambert, Deborah, Green, Andrew, Robinson, Haynes, Michelson, Melonie, Houge, Gunnar, Lindman, Carl, Martin, Judith, Ward, Jewell, Lemyre, Emmanuelle, Mitchell, John J., Krakow, Deborah, Rimoin, David L., Cohn, Daniel H., Byers, Peter H., Lee, Brendan
Publicerad 2008

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

av Hucthagowder, Vishwanathan, Morava, Eva, Kornak, Uwe, Lefeber, Dirk J., Fischer, Björn, Dimopoulou, Aikaterini, Aldinger, Annika, Choi, Jiwon, Davis, Elaine C., Abuelo, Dianne N., Adamowicz, Maciej, Al-Aama, Jumana, Basel-Vanagaite, Lina, Fernandez, Bridget, Greally, Marie T., Gillessen-Kaesbach, Gabriele, Kayserili, Hulya, Lemyre, Emmanuelle, Tekin, Mustafa, Türkmen, Seval, Tuysuz, Beyhan, Yüksel-Konuk, Berrin, Mundlos, Stefan, Van Maldergem, Lionel, Wevers, Ron A., Urban, Zsolt
Publicerad 2009

Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

av Hitz, Marc-Phillip, Lemieux-Perreault, Louis-Philippe, Marshall, Christian, Feroz-Zada, Yassamin, Davies, Robbie, Yang, Shi Wei, Lionel, Anath Christopher, D'Amours, Guylaine, Lemyre, Emmanuelle, Cullum, Rebecca, Bigras, Jean-Luc, Thibeault, Maryse, Chetaille, Philippe, Montpetit, Alexandre, Khairy, Paul, Overduin, Bert, Klaassen, Sabine, Hoodless, Pamela, Nemer, Mona, Stewart, Alexandre F. R., Boerkoel, Cornelius, Scherer, Stephen W., Richter, Andrea, Dubé, Marie-Pierre, Andelfinger, Gregor
Publicerad 2012

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

av Friedman, JM, Adam, Shelin, Arbour, Laura, Armstrong, Linlea, Baross, Agnes, Birch, Patricia, Boerkoel, Cornelius, Chan, Susanna, Chai, David, Delaney, Allen D, Flibotte, Stephane, Gibson, William T, Langlois, Sylvie, Lemyre, Emmanuelle, Li, H Irene, MacLeod, Patrick, Mathers, Joan, Michaud, Jacques L, McGillivray, Barbara C, Patel, Millan S, Qian, Hong, Rouleau, Guy A, Van Allen, Margot I, Yong, Siu-Li, Zahir, Farah R, Eydoux, Patrice, Marra, Marco A
Publicerad 2009

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

av Jønch, Aia Elise, Douard, Elise, Moreau, Clara, Van Dijck, Anke, Passeggeri, Marzia, Kooy, Frank, Puechberty, Jacques, Campbell, Carolyn, Sanlaville, Damien, Lefroy, Henrietta, Richetin, Sonia, Pain, Aurelie, Geneviève, David, Kini, Usha, Le Caignec, Cédric, Lespinasse, James, Skytte, Anne-Bine, Isidor, Bertrand, Zweier, Christiane, Caberg, Jean-Hubert, Delrue, Marie-Ange, Møller, Rikke Steensbjerre, Bojesen, Anders, Hjalgrim, Helle, Brasch-Andersen, Charlotte, Lemyre, Emmanuelle, Ousager, Lilian Bomme, Jacquemont, Sébastien
I publikationen J Med Genet (2019)

Correction: Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

av Hitz, Marc-Phillip, Lemieux-Perreault, Louis-Philippe, Marshall, Christian, Feroz-Zada, Yassamin, Davies, Robbie, Yang, Shi Wei, Lionel, Anath Christopher, D'Amours, Guylaine, Lemyre, Emmanuelle, Cullum, Rebecca, Bigras, Jean-Luc, Thibeault, Maryse, Chetaille, Philippe, Montpetit, Alexandre, Khairy, Paul, Overduin, Bert, Klaassen, Sabine, Hoodless, Pamela, Awadalla, Philip, Hussin, Julie, Idaghdour, Youssef, Nemer, Mona, Stewart, Alexandre F. R., Boerkoel, Cornelius, Scherer, Stephen W., Richter, Andrea, Dubé, Marie-Pierre, Andelfinger, Gregor
Publicerad 2013

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

av Uddin, Mohammed, Pellecchia, Giovanna, Thiruvahindrapuram, Bhooma, D’Abate, Lia, Merico, Daniele, Chan, Ada, Zarrei, Mehdi, Tammimies, Kristiina, Walker, Susan, Gazzellone, Matthew J., Nalpathamkalam, Thomas, Yuen, Ryan K. C., Devriendt, Koenraad, Mathonnet, Géraldine, Lemyre, Emmanuelle, Nizard, Sonia, Shago, Mary, Joseph-George, Ann M., Noor, Abdul, Carter, Melissa T., Yoon, Grace, Kannu, Peter, Tihy, Frédérique, Thorland, Erik C., Marshall, Christian R., Buchanan, Janet A., Speevak, Marsha, Stavropoulos, Dimitri J., Scherer, Stephen W.
I publikationen Sci Rep (2016)

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

av Srour, Myriam, Hamdan, Fadi F., McKnight, Dianalee, Davis, Erica, Mandel, Hanna, Schwartzentruber, Jeremy, Martin, Brissa, Patry, Lysanne, Nassif, Christina, Dionne-Laporte, Alexandre, Ospina, Luis H., Lemyre, Emmanuelle, Massicotte, Christine, Laframboise, Rachel, Maranda, Bruno, Labuda, Damian, Décarie, Jean-Claude, Rypens, Françoise, Goldsher, Dorith, Fallet-Bianco, Catherine, Soucy, Jean-François, Laberge, Anne-Marie, Maftei, Catalina, Boycott, Kym, Brais, Bernard, Boucher, Renée-Myriam, Rouleau, Guy A., Katsanis, Nicholas, Majewski, Jacek, Elpeleg, Orly, Kukolich, Mary K., Shalev, Stavit, Michaud, Jacques L.
I publikationen Am J Hum Genet (2015)

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

av Verheije, Rosalind, Kupchik, Gabriel S., Isidor, Bertrand, Kroes, Hester Y., Lynch, Sally Ann, Hawkes, Lara, Hempel, Maja, Gelb, Bruce D., Ghoumid, Jamal, D’Amours, Guylaine, Chandler, Kate, Dubourg, Christèle, Loddo, Sara, Tümer, Zeynep, Shaw-Smith, Charles, Nizon, Mathilde, Shevell, Michael, Van Hoof, Evelien, Anyane-Yeboa, Kwame, Cerbone, Gaetana, Clayton-Smith, Jill, Cogné, Benjamin, Corre, Pierre, Corveleyn, Anniek, De Borre, Marie, Hjortshøj, Tina Duelund, Fradin, Mélanie, Gewillig, Marc, Goldmuntz, Elizabeth, Hens, Greet, Lemyre, Emmanuelle, Journel, Hubert, Kini, Usha, Kortüm, Fanny, Le Caignec, Cedric, Novelli, Antonio, Odent, Sylvie, Petit, Florence, Revah-Politi, Anya, Stong, Nicholas, Strom, Tim M., van Binsbergen, Ellen, Devriendt, Koenraad, Breckpot, Jeroen
I publikationen Eur J Hum Genet (2018)

Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly

av Braun, Daniela A., Rao, Jia, Mollet, Geraldine, Schapiro, David, Daugeron, Marie-Claire, Tan, Weizhen, Gribouval, Olivier, Boyer, Olivia, Revy, Patrick, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Lawson, Jennifer A., Schanze, Denny, Ashraf, Shazia, Boddaert, Nathalie, Collinet, Bruno, Martin, Gaëlle, Liger, Dominique, Lovric, Svjetlana, Furlano, Monica, Guerrera, I. Chiara, Sanchez-Ferras, Oraly, Menten, Björn, Vergult, Sarah, De Rocker, Nina, Airik, Merlin, Hermle, Tobias, Shril, Shirlee, Widmeier, Eugen, Gee, Heon Yung, Choi, Won-Il, Sadowski, Carolin E., Pabst, Werner L., Warejko, Jillian, Daga, Ankana, LeBerre, Tamara Basta, Matejas, Verena, Behnam, Babak, Beeson, Brendan, Begtrup, Amber, Bruce, Malcolm, Ch'ng, Gaik-Siew, Lin, Shuan-Pei, Chang, Jui-Hsing, Chen, Chao-Huei, Cho, Megan T., Gipson, Patrick E., Hsu, Chyong-Hsin, Kari, Jameela A., Ke, Yu-Yuan, Kiraly-Borri, Cathy, Lai, Wai-ming, Lemyre, Emmanuelle, Littlejohn, Rebecca Okasha, Masri, Amira, Moghtaderi, Mastaneh, Nakamura, Kazuyuki, Praet, Marleen, Prasad, Chitra, Prytula, Agnieszka, Roeder, Elizabeth, Rump, Patrick, Schnur, Rhonda E., Shiihara, Takashi, Sinha, Manish, Soliman, Neveen A, Soulami, Kenza, Sweetser, David A., Tsai, Wen-Hui, Tsai, Jeng-Daw, Vester, Udo, Viskochil, David H., Vatanavicharn, Nithiwat, Waxler, Jessica L., Wolf, Matthias T.F., Wong, Sik-Nin, Poduri, Annapurna, Truglio, Gessica, Mane, Shrikant, Lifton, Richard P., Bouchard, Maxime, Kannu, Peter, Chitayat, David, Magen, Daniella, Calleweart, Bert, van Tilbeurgh, Herman, Zenker, Martin, Antignac, Corinne, Hildebrandt, Friedhelm
I publikationen Nat Genet (2017)