Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease
Preuss, Christoph, Capredon, Melanie, Wünnemann, Florian, Chetaille, Philippe, Prince, Andrea, Godard, Beatrice, Leclerc, Severine, Sobreira, Nara, Ling, Hua, Awadalla, Philip, Thibeault, Maryse, Khairy, Paul, Samuels, Mark E, Andelfinger, Gregor
Published in PLoS genetics (19.10.2016)
Published in PLoS genetics (19.10.2016)
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Journal Article
Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population
Srour, Myriam, Schwartzentruber, Jeremy, Hamdan, Fadi F., Ospina, Luis H., Patry, Lysanne, Labuda, Damian, Massicotte, Christine, Dobrzeniecka, Sylvia, Capo-Chichi, José-Mario, Papillon-Cavanagh, Simon, Samuels, Mark E., Boycott, Kym M., Shevell, Michael I., Laframboise, Rachel, Désilets, Valérie, Maranda, Bruno, Rouleau, Guy A., Majewski, Jacek, Michaud, Jacques L.
Published in American journal of human genetics (06.04.2012)
Published in American journal of human genetics (06.04.2012)
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Journal Article
Shooting the messenger: a systematic review investigating extracellular vesicle isolation and characterisation methods and their influence on understanding extracellular vesicles-radiotherapy interactions in glioblastoma
Robinson, Stephen David, Samuels, Mark, Jones, William, Gilbert, Duncan, Critchley, Giles, Giamas, Georgios
Published in BMC cancer (05.10.2023)
Published in BMC cancer (05.10.2023)
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Journal Article
Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis
Nada, Dina, Julien, Cédric, Papillon-Cavanagh, Simon, Majewski, Jacek, Elbakry, Mohamed, Elremaly, Wesam, Samuels, Mark E., Moreau, Alain
Published in Scientific reports (19.07.2022)
Published in Scientific reports (19.07.2022)
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Journal Article
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia
Gauthier, Julie, Champagne, Nathalie, Lafrenière, Ronald G., Xiong, Lan, Spiegelman, Dan, Brustein, Edna, Lapointe, Mathieu, Peng, Huashan, Côté, Mélanie, Noreau, Anne, Hamdan, Fadi F., Addington, Anjené M., Rapoport, Judith L., DeLisi, Lynn E., Krebs, Marie-Odile, Joober, Ridha, Fathalli, Ferid, Mouaffak, Fayçal, Haghighi, Ali P., Néri, Christian, Dubé, Marie-Pierre, Samuels, Mark E., Marineau, Claude, Stone, Eric A., Awadalla, Philip, Barker, Philip A., Carbonetto, Salvatore, Drapeau, Pierre, Rouleau, Guy A., the S2D Team, Housman, David E.
Published in Proceedings of the National Academy of Sciences - PNAS (27.04.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (27.04.2010)
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Journal Article
Genetics of the patella
Samuels, Mark E, Campeau, Philippe M
Published in European journal of human genetics : EJHG (01.05.2019)
Published in European journal of human genetics : EJHG (01.05.2019)
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Journal Article
Germline mutations in MAP3K6 are associated with familial gastric cancer
Gaston, Daniel, Hansford, Samantha, Oliveira, Carla, Nightingale, Mathew, Pinheiro, Hugo, Macgillivray, Christine, Kaurah, Pardeep, Rideout, Andrea L, Steele, Patricia, Soares, Gabriela, Huang, Weei-Yuarn, Whitehouse, Scott, Blowers, Sarah, LeBlanc, Marissa A, Jiang, Haiyan, Greer, Wenda, Samuels, Mark E, Orr, Andrew, Fernandez, Conrad V, Majewski, Jacek, Ludman, Mark, Dyack, Sarah, Penney, Lynette S, McMaster, Christopher R, Huntsman, David, Bedard, Karen
Published in PLoS genetics (01.10.2014)
Published in PLoS genetics (01.10.2014)
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Journal Article
Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome
Schwartzentruber, Jeremy, Buhas, Daniela, Majewski, Jacek, Sasarman, Florin, Papillon-Cavanagh, Simon, Thiffaut, Isabelle, Sheldon, Katherine M., Massicotte, Christine, Patry, Lysanne, Simon, Mariella, Zare, Amir S., McKernan, Kevin J., Michaud, Jacques, Boles, Richard G., Deal, Cheri L., Desilets, Valerie, Shoubridge, Eric A., Samuels, Mark E.
Published in Human mutation (01.11.2014)
Published in Human mutation (01.11.2014)
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Journal Article
Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy
Ruzzo, Elizabeth K., Capo-Chichi, José-Mario, Ben-Zeev, Bruria, Chitayat, David, Mao, Hanqian, Pappas, Andrea L., Hitomi, Yuki, Lu, Yi-Fan, Yao, Xiaodi, Hamdan, Fadi F., Pelak, Kimberly, Reznik-Wolf, Haike, Bar-Joseph, Ifat, Oz-Levi, Danit, Lev, Dorit, Lerman-Sagie, Tally, Leshinsky-Silver, Esther, Anikster, Yair, Ben-Asher, Edna, Olender, Tsviya, Colleaux, Laurence, Décarie, Jean-Claude, Blaser, Susan, Banwell, Brenda, Joshi, Rasesh B., He, Xiao-Ping, Patry, Lysanne, Silver, Rachel J., Dobrzeniecka, Sylvia, Islam, Mohammad S., Hasnat, Abul, Samuels, Mark E., Aryal, Dipendra K., Rodriguiz, Ramona M., Jiang, Yong-hui, Wetsel, William C., McNamara, James O., Rouleau, Guy A., Silver, Debra L., Lancet, Doron, Pras, Elon, Mitchell, Grant A., Michaud, Jacques L., Goldstein, David B.
Published in Neuron (Cambridge, Mass.) (16.10.2013)
Published in Neuron (Cambridge, Mass.) (16.10.2013)
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Journal Article
Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis
Larrivée-Vanier, Stéphanie, Jean-Louis, Martineau, Magne, Fabien, Bui, Helen, Rouleau, Guy A, Spiegelman, Dan, Samuels, Mark E, Kibar, Zoha, Van Vliet, Guy, Deladoëy, Johnny
Published in Thyroid (New York, N.Y.) (01.05.2022)
Published in Thyroid (New York, N.Y.) (01.05.2022)
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Journal Article
Evolution of the patellar sesamoid bone in mammals
Samuels, Mark E, Regnault, Sophie, Hutchinson, John R
Published in PeerJ (San Francisco, CA) (21.03.2017)
Published in PeerJ (San Francisco, CA) (21.03.2017)
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Journal Article
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies
Brue, Thierry, Quentien, Marie-Hélène, Khetchoumian, Konstantin, Bensa, Marco, Capo-Chichi, José-Mario, Delemer, Brigitte, Balsalobre, Aurelio, Nassif, Christina, Papadimitriou, Dimitris T, Pagnier, Anne, Hasselmann, Caroline, Patry, Lysanne, Schwartzentruber, Jeremy, Souchon, Pierre-François, Takayasu, Shinobu, Enjalbert, Alain, Van Vliet, Guy, Majewski, Jacek, Drouin, Jacques, Samuels, Mark E
Published in BMC genetics (19.12.2014)
Published in BMC genetics (19.12.2014)
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Journal Article
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease
Chauveau, Claire, Bonnemann, Carsten G, Julien, Cedric, Kho, Ay Lin, Marks, Harold, Talim, Beril, Maury, Philippe, Arne-Bes, Marie Christine, Uro-Coste, Emmanuelle, Alexandrovich, Alexander, Vihola, Anna, Schafer, Sebastian, Kaufmann, Beth, Medne, Livija, Hübner, Norbert, Foley, A Reghan, Santi, Mariarita, Udd, Bjarne, Topaloglu, Haluk, Moore, Steven A, Gotthardt, Michael, Samuels, Mark E, Gautel, Mathias, Ferreiro, Ana
Published in Human molecular genetics (15.02.2014)
Published in Human molecular genetics (15.02.2014)
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Journal Article
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia
Bottomley, Sylvia S, Campagna, Dean R, Matsuoka, Makoto, Guernsey, Duane L, Rideout, Andrea, Dyack, Sarah, Samuels, Mark E, Kellogg, Mark D, Schmidt, Paul J, Nightingale, Mathew, Jiang, Haiyan, Ludman, Mark, Saint-Amant, Louis, Lachance, Mathieu, Ferguson, Meghan, Fernandez, Conrad V, Evans, Susan C, Fleming, Mark D, Orr, Andrew
Published in Nature genetics (01.06.2009)
Published in Nature genetics (01.06.2009)
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Journal Article
Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4
Guernsey, Duane L., Jiang, Haiyan, Hussin, Julie, Arnold, Marc, Bouyakdan, Khalil, Perry, Scott, Babineau-Sturk, Tina, Beis, Jill, Dumas, Nadine, Evans, Susan C., Ferguson, Meghan, Matsuoka, Makoto, Macgillivray, Christine, Nightingale, Mathew, Patry, Lysanne, Rideout, Andrea L., Thomas, Aidan, Orr, Andrew, Hoffmann, Ingrid, Michaud, Jacques L., Awadalla, Philip, Meek, David C., Ludman, Mark, Samuels, Mark E.
Published in American journal of human genetics (09.07.2010)
Published in American journal of human genetics (09.07.2010)
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Journal Article
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
Guernsey, Duane L, Matsuoka, Makoto, Jiang, Haiyan, Evans, Susan, Macgillivray, Christine, Nightingale, Mathew, Perry, Scott, Ferguson, Meghan, LeBlanc, Marissa, Paquette, Jean, Patry, Lysanne, Rideout, Andrea L, Thomas, Aidan, Orr, Andrew, McMaster, Chris R, Michaud, Jacques L, Deal, Cheri, Langlois, Sylvie, Superneau, Duane W, Parkash, Sandhya, Ludman, Mark, Skidmore, David L, Samuels, Mark E
Published in Nature genetics (01.04.2011)
Published in Nature genetics (01.04.2011)
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