Below you will find scientific publications authored by our members or those enabled by our platform services.
2017
Hamdan, Fadi F; Myers, Candace T; Cossette, Patrick; Lemay, Philippe; Spiegelman, Dan; Laporte, Alexandre Dionne; Nassif, Christina; Diallo, Ousmane; Monlong, Jean; Cadieux-Dion, Maxime; Dobrzeniecka, Sylvia; Meloche, Caroline; Retterer, Kyle; Cho, Megan T; Rosenfeld, Jill A; Bi, Weimin; Massicotte, Christine; Miguet, Marguerite; Brunga, Ledia; Regan, Brigid M; Mo, Kelly; Tam, Cory; Schneider, Amy; Hollingsworth, Georgie; FitzPatrick, David R; Donaldson, Alan; Canham, Natalie; Blair, Edward; Kerr, Bronwyn; Fry, Andrew E; Thomas, Rhys H; Shelagh, Joss; Hurst, Jane A; Brittain, Helen; Blyth, Moira; Lebel, Robert Roger; Gerkes, Erica H; Davis-Keppen, Laura; Stein, Quinn; Chung, Wendy K; Dorison, Sara J; Benke, Paul J; Fassi, Emily; Corsten-Janssen, Nicole; Kamsteeg, Erik-Jan; Mau-Them, Frederic T; Bruel, Ange-Line; Verloes, Alain; Õunap, Katrin; Wojcik, Monica H; Albert, Dara V F; Venkateswaran, Sunita; Ware, Tyson; Jones, Dean; Liu, Yu-Chi; Mohammad, Shekeeb S; Bizargity, Peyman; Bacino, Carlos A; Leuzzi, Vincenzo; Martinelli, Simone; Dallapiccola, Bruno; Tartaglia, Marco; Blumkin, Lubov; Wierenga, Klaas J; Purcarin, Gabriela; O’Byrne, James J; Stockler, Sylvia; Lehman, Anna; Keren, Boris; Nougues, Marie-Christine; Mignot, Cyril; Auvin, Stéphane; Nava, Caroline; Hiatt, Susan M; Bebin, Martina; Shao, Yunru; Scaglia, Fernando; Lalani, Seema R; Frye, Richard E; Jarjour, Imad T; Jacques, Stéphanie; Boucher, Renee-Myriam; Riou, Emilie; Srour, Myriam; Carmant, Lionel; Lortie, Anne; Major, Philippe; Diadori, Paola; Dubeau, François; D’Anjou, Guy; Bourque, Guillaume; Berkovic, Samuel F; Sadleir, Lynette G; Campeau, Philippe M; Kibar, Zoha; Lafrenière, Ronald G; Girard, Simon L; Mercimek-Mahmutoglu, Saadet; Boelman, Cyrus; Rouleau, Guy A; Scheffer, Ingrid E; Mefford, Heather C; Andrade, Danielle M; Rossignol, Elsa; Minassian, Berge A; Michaud, Jacques L
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies Journal Article
In: The American Journal of Human Genetics, vol. 101, no. 5, pp. 664–685, 2017, ISSN: 0002-9297, 1537-6605, (Publisher: Elsevier).
Links | BibTeX | Tags: CLTC, DHDDS, epileptic encephalopathy, GABBR2, GABRB2, NTRK2, NUS1, RAB11, SNAP25
@article{hamdan_high_2017,
title = {High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies},
author = {Fadi F Hamdan and Candace T Myers and Patrick Cossette and Philippe Lemay and Dan Spiegelman and Alexandre Dionne Laporte and Christina Nassif and Ousmane Diallo and Jean Monlong and Maxime Cadieux-Dion and Sylvia Dobrzeniecka and Caroline Meloche and Kyle Retterer and Megan T Cho and Jill A Rosenfeld and Weimin Bi and Christine Massicotte and Marguerite Miguet and Ledia Brunga and Brigid M Regan and Kelly Mo and Cory Tam and Amy Schneider and Georgie Hollingsworth and David R FitzPatrick and Alan Donaldson and Natalie Canham and Edward Blair and Bronwyn Kerr and Andrew E Fry and Rhys H Thomas and Joss Shelagh and Jane A Hurst and Helen Brittain and Moira Blyth and Robert Roger Lebel and Erica H Gerkes and Laura Davis-Keppen and Quinn Stein and Wendy K Chung and Sara J Dorison and Paul J Benke and Emily Fassi and Nicole Corsten-Janssen and Erik-Jan Kamsteeg and Frederic T Mau-Them and Ange-Line Bruel and Alain Verloes and Katrin Õunap and Monica H Wojcik and Dara V F Albert and Sunita Venkateswaran and Tyson Ware and Dean Jones and Yu-Chi Liu and Shekeeb S Mohammad and Peyman Bizargity and Carlos A Bacino and Vincenzo Leuzzi and Simone Martinelli and Bruno Dallapiccola and Marco Tartaglia and Lubov Blumkin and Klaas J Wierenga and Gabriela Purcarin and James J O’Byrne and Sylvia Stockler and Anna Lehman and Boris Keren and Marie-Christine Nougues and Cyril Mignot and Stéphane Auvin and Caroline Nava and Susan M Hiatt and Martina Bebin and Yunru Shao and Fernando Scaglia and Seema R Lalani and Richard E Frye and Imad T Jarjour and Stéphanie Jacques and Renee-Myriam Boucher and Emilie Riou and Myriam Srour and Lionel Carmant and Anne Lortie and Philippe Major and Paola Diadori and François Dubeau and Guy D’Anjou and Guillaume Bourque and Samuel F Berkovic and Lynette G Sadleir and Philippe M Campeau and Zoha Kibar and Ronald G Lafrenière and Simon L Girard and Saadet Mercimek-Mahmutoglu and Cyrus Boelman and Guy A Rouleau and Ingrid E Scheffer and Heather C Mefford and Danielle M Andrade and Elsa Rossignol and Berge A Minassian and Jacques L Michaud},
url = {https://www.cell.com/ajhg/abstract/S0002-9297(17)30377-4},
doi = {10.1016/j.ajhg.2017.09.008},
issn = {0002-9297, 1537-6605},
year = {2017},
date = {2017-01-01},
urldate = {2021-05-19},
journal = {The American Journal of Human Genetics},
volume = {101},
number = {5},
pages = {664--685},
note = {Publisher: Elsevier},
keywords = {CLTC, DHDDS, epileptic encephalopathy, GABBR2, GABRB2, NTRK2, NUS1, RAB11, SNAP25},
pubstate = {published},
tppubtype = {article}
}