Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability
Huguet, Guillaume, Schramm, Catherine, Douard, Elise, Tamer, Petra, Main, Antoine, Monin, Pauline, England, Jade, Jizi, Khadije, Renne, Thomas, Poirier, Myriam, Nowak, Sabrina, Martin, Charles-Olivier, Younis, Nadine, Knoth, Inga Sophia, Jean-Louis, Martineau, Saci, Zohra, Auger, Maude, Tihy, Frédérique, Mathonnet, Géraldine, Maftei, Catalina, Léveillé, France, Porteous, David, Davies, Gail, Redmond, Paul, Harris, Sarah E., Hill, W. David, Lemyre, Emmanuelle, Schumann, Gunter, Bourgeron, Thomas, Pausova, Zdenka, Paus, Tomas, Karama, Sherif, Lippe, Sarah, Deary, Ian J., Almasy, Laura, Labbe, Aurélie, Glahn, David, Greenwood, Celia M. T., Jacquemont, Sébastien
Published in Molecular psychiatry (01.06.2021)
Published in Molecular psychiatry (01.06.2021)
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Prenatal Screening for and Diagnosis of Aneuploidy in Twin Pregnancies
Audibert, François, MD, Gagnon, Alain, MD, Douglas Wilson, R., MD, Blight, Claire, RN, Brock, Jo-Ann, MD, Cartier, Lola, MSc, CCGC, Désilets, Valerie A., MD, Johnson, Jo-Ann, MD, Langlois, Sylvie, MD, Murphy-Kaulbeck, Lynn, MD, Okun, Nanette, MD, Melanie Pastuck, R.N, Senikas, Vyta, MD, Chitayat, David, MD, Desilets, Valerie A., MD, Geraghty, Michael T, MD, Marcadier, Janet, MSc, Nelson, Tanya N., PhD, Skidmore, David, MD, Siu, Vicky, MD, Tihy, Frederique, PhD
Published in Journal of obstetrics and gynaecology Canada (01.07.2011)
Published in Journal of obstetrics and gynaecology Canada (01.07.2011)
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Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples
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
Published in JAMA psychiatry (Chicago, Ill.) (01.05.2018)
Published in JAMA psychiatry (Chicago, Ill.) (01.05.2018)
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Prenatal screening for fetal aneuploidy
Summers, Anne M, Langlois, Sylvie, Wyatt, Phil, Douglas Wilson, R
Published in Journal of obstetrics and gynaecology Canada (01.02.2007)
Published in Journal of obstetrics and gynaecology Canada (01.02.2007)
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Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada
Armour, Christine M, Dougan, Shelley Danielle, Brock, Jo-Ann, Chari, Radha, Chodirker, Bernie N, DeBie, Isabelle, Evans, Jane A, Gibson, William T, Kolomietz, Elena, Nelson, Tanya N, Tihy, Frédérique, Thomas, Mary Ann, Stavropoulos, Dimitri J
Published in Journal of medical genetics (01.04.2018)
Published in Journal of medical genetics (01.04.2018)
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The impact of comparative genomic hybridization/single-nucleotide polymorphism microarray in risk stratification of pediatric acute lymphoblastic leukemia
Gourmel, Antoine, Perrault, Héloïse, Colaiacovo, Marie-Laure, Laramée, Louise, Rozendaal, Marieke, Bittencourt, Henrique, Laverdière, Caroline, Champagne, Josette, Cellot, Sonia, Silverman, Lewis B, Lemyre, Emmanuelle, Maftei, Catalina, Mathonnet, Géraldine, Tihy, Frédérique, Pelland-Marcotte, Marie-Claude, Léveillé, France, Tran, Thai Hoa
Published in Pediatric blood & cancer (01.09.2024)
Published in Pediatric blood & cancer (01.09.2024)
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NUP98‐BPTF gene fusion identified in primary refractory acute megakaryoblastic leukemia of infancy
Roussy, Mathieu, Bilodeau, Mélanie, Jouan, Loubna, Tibout, Pauline, Laramée, Louise, Lemyre, Emmanuelle, Léveillé, France, Tihy, Frédérique, Cardin, Sophie, Sauvageau, Camille, Couture, Françoise, Louis, Isabelle, Choblet, Aurélien, Patey, Natalie, Gendron, Patrick, Duval, Michel, Teira, Pierre, Hébert, Josée, Wilhelm, Brian T., Choi, John K., Gruber, Tanja A., Bittencourt, Henrique, Cellot, Sonia
Published in Genes chromosomes & cancer (01.06.2018)
Published in Genes chromosomes & cancer (01.06.2018)
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Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay
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.
Published in Scientific reports (01.07.2016)
Published in Scientific reports (01.07.2016)
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CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems
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
Published in Journal of neurodevelopmental disorders (22.04.2014)
Published in Journal of neurodevelopmental disorders (22.04.2014)
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SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay
D'Amours, Guylaine, Langlois, Mathieu, Mathonnet, Géraldine, Fetni, Raouf, Nizard, Sonia, Srour, Myriam, Tihy, Frédérique, Phillips, Michael S, Michaud, Jacques L, Lemyre, Emmanuelle
Published in BMC medical genomics (24.12.2014)
Published in BMC medical genomics (24.12.2014)
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Novel PDE10A-BRAF Fusion With Concomitant NF1 Mutation Identified in an Undifferentiated Sarcoma of Infancy With Sustained Response to Trametinib
Vairy, Stéphanie, Jouan, Loubna, Bilodeau, Mélanie, Dormoy-Raclet, Virginie, Gendron, Patrick, Couture, Françoise, Léveillé, France, Tihy, Frédérique, Lemyre, Emmanuelle, Bouron-Dal Soglio, Dorothée, Jabado, Nada, Kleinman, Claudia L, Marzouki, Monia, Cellot, Sonia
Published in JCO precision oncology (01.11.2018)
Published in JCO precision oncology (01.11.2018)
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The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients
SEYRANTEPE, Volkan, TIHY, Frédérique, PSHEZHETSKY, Alexey V
Published in Human genetics (01.09.2006)
Published in Human genetics (01.09.2006)
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Prenatal cytogenetic assessment and inv(2)(p11.2q13)
Hysert, Meaghan, Bruyère, Hélène, Côté, Gilbert B., Dawson, Angelika J., Dolling, Jo-Anna, Fetni, Raouf, Hrynchak, Monica, Lavoie, Josée, McGowan-Jordan, Jean, Tihy, Frédérique, Duncan, Alessandra M. V.
Published in Prenatal diagnosis (01.09.2006)
Published in Prenatal diagnosis (01.09.2006)
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Journal Article
Dépistage et diagnostic prénatals de l’aneuploïdie en ce qui concerne les grossesses gémellaires
Audibert, François, MD, Gagnon, Alain, MD, Douglas Wilson, R., MD, Blight, Claire, Brock, Jo-Ann, MD, Cartier, Lola, MSc, CCGC, Désilets, Valérie A., MD, Johnson, Jo-Ann, MD, Langlois, Sylvie, MD, Murphy-Kaulbeck, Lynn, MD, Okun, Nanette, MD, Pastuck, Melanie, Senikas, Vyta, MD, Chitayat, David, MD, Geraghty, Michael T., MD, Marcadier, Janet, MSc, Nelson, Tanya N., PhD, Skidmore, David, MD, Siu, Vicky, MD, Tihy, Frédérique, PhD
Published in Journal of obstetrics and gynaecology Canada (2011)
Published in Journal of obstetrics and gynaecology Canada (2011)
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MG-121 Five new patients with pure distal 1q trisomy, review of the literature and phenotype redefinition
Maftei, Catalina, Laberge, Anne-Marie, Maranda, Bruno, Mitchell, Grant, Nizard, Sonia, Tihy, Frédérique, Lemyre, Emmanuelle
Published in Journal of medical genetics (01.11.2015)
Published in Journal of medical genetics (01.11.2015)
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