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European journal of human genetics : EJHG, 2016-07, Vol.24 (7), p.1084-1088
2016
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Scientific reports, 2021-11, Vol.11 (1), p.22755-22755, Article 22755
2021
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American journal of human genetics, 2012-02, Vol.90 (2), p.369-377
- Lines, Matthew A.
- Huang, Lijia
- Schwartzentruber, Jeremy
- Douglas, Stuart L.
- Lynch, Danielle C.
- Beaulieu, Chandree
- Guion-Almeida, Maria Leine
- Zechi-Ceide, Roseli Maria
- Gener, Blanca
- Gillessen-Kaesbach, Gabriele
- Nava, Caroline
- Baujat, Geneviève
- Horn, Denise
- Kini, Usha
- Caliebe, Almuth
- Alanay, Yasemin
- Utine, Gulen Eda
- Lev, Dorit
- Kohlhase, Jürgen
- Grix, Arthur W.
- Lohmann, Dietmar R.
- Hehr, Ute
- Böhm, Detlef
- Majewski, Jacek
- Bulman, Dennis E.
- Wieczorek, Dagmar
- Boycott, Kym M.
2012
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American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2470-2478
- Assoum, Mirna
- Lines, Matthew A.
- Elpeleg, Orly
- Darmency, Véronique
- Whiting, Sharon
- Edvardson, Simon
- Devinsky, Orrin
- Heinzen, Erin
- Hernan, Rebecca Rose
- Antignac, Corinne
- Deleuze, Jean‐François
- Des Portes, Vincent
- Bertholet‐Thomas, Aurélie
- Belot, Alexandre
- Geller, Eric
- Lemesle, Martine
- Duffourd, Yannis
- Thauvin‐Robinet, Christel
- Thevenon, Julien
- Chung, Wendy
- Lowenstein, Daniel H.
- Faivre, Laurence
2018
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BMC pediatrics, 2020-04, Vol.20 (1), p.177-177, Article 177
2020
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iScience, 2023-07, Vol.26 (7), p.107180-107180, Article 107180
2023
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Canadian Medical Association journal (CMAJ), 2016-08, Vol.188 (11), p.E254
2016
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European journal of human genetics : EJHG, 2019-10, Vol.27 (10), p.1611-1618
2019
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JIMD Reports, Volume 30, 2016-01, Vol.30, p.73-79
2016
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American journal of human genetics, 2012-02, Vol.90 (2), p.308-313
- Hood, Rebecca L.
- Lines, Matthew A.
- Nikkel, Sarah M.
- Schwartzentruber, Jeremy
- Beaulieu, Chandree
- Nowaczyk, Małgorzata J.M.
- Allanson, Judith
- Kim, Chong Ae
- Wieczorek, Dagmar
- Moilanen, Jukka S.
- Lacombe, Didier
- Gillessen-Kaesbach, Gabriele
- Whiteford, Margo L.
- Quaio, Caio Robledo D.C.
- Gomy, Israel
- Bertola, Debora R.
- Albrecht, Beate
- Platzer, Konrad
- McGillivray, George
- Zou, Ruobing
- McLeod, D. Ross
- Chudley, Albert E.
- Chodirker, Bernard N.
- Marcadier, Janet
- Majewski, Jacek
- Bulman, Dennis E.
- White, Susan M.
- Boycott, Kym M.
2012
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American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.2959-2975
2021
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American journal of medical genetics. Part B, Neuropsychiatric genetics, 2018-01, Vol.177 (1), p.101-109
2018
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Molecular genetics and metabolism, 2018-03, Vol.123 (3), p.309-316
2018
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Neurology, 2014-03, Vol.82 (11), p.963
2014
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American journal of medical genetics. Part A, 2022-06, Vol.188 (6), p.1667-1675
- Lines, Matthew A.
- Goldenberg, Paula
- Wong, Ashley
- Srivastava, Siddharth
- Bayat, Allan
- Hove, Hanne
- Karstensen, Helena Gásdal
- Anyane‐Yeboa, Kwame
- Liao, Jun
- Jiang, Nan
- May, Alison
- Guzman, Edwin
- Morleo, Manuela
- D'Arrigo, Stefano
- Ciaccio, Claudia
- Pantaleoni, Chiara
- Castello, Raffaele
- McKee, Shane
- Ong, Jinfon
- Zibdeh‐Lough, Hana
- Tran‐Mau‐Them, Frederic
- Gerasimenko, Anna
- Heron, Delphine
- Keren, Boris
- Margot, Henri
- Sainte Agathe, Jean‐Madeleine
- Burglen, Lydie
- Voets, Thomas
- Vriens, Joris
- Innes, A. Micheil
- Dyment, David A.
2022
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European journal of human genetics : EJHG, 2021-11, Vol.29 (11), p.1719-1724
2021
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Molecular genetics and metabolism, 2018-11, Vol.125 (3), p.281-291
- Almannai, Mohammed
- Wang, Julia
- Dai, Hongzheng
- El-Hattab, Ayman W.
- Faqeih, Eissa A.
- Saleh, Mohammed A.
- Al Asmari, Ali
- Alwadei, Ali H.
- Aljadhai, Yaser I.
- AlHashem, Amal
- Tabarki, Brahim
- Lines, Matthew A.
- Grange, Dorothy K.
- Benini, Ruba
- Alsaman, Abdulaziz S.
- Mahmoud, Adel
- Katsonis, Panagiotis
- Lichtarge, Olivier
- Wong, Lee-Jun C.
2018
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European journal of human genetics : EJHG, 2017-09, Vol.25 (9), p.1049-1054
2017
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Canadian Medical Association journal (CMAJ), 2015-02, Vol.187 (2), p.102
2015
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Human mutation, 2016-02, Vol.37 (2), p.148-154
- Huang, Lijia
- Vanstone, Megan R.
- Hartley, Taila
- Osmond, Matthew
- Barrowman, Nick
- Allanson, Judith
- Baker, Laura
- Dabir, Tabib A.
- Dipple, Katrina M.
- Dobyns, William B.
- Estrella, Jane
- Faghfoury, Hanna
- Favaro, Francine P.
- Goel, Himanshu
- Gregersen, Pernille A.
- Gripp, Karen W.
- Grix, Art
- Guion-Almeida, Maria-Leine
- Harr, Margaret H.
- Hudson, Cindy
- Hunter, Alasdair G.W.
- Johnson, John
- Joss, Shelagh K.
- Kimball, Amy
- Kini, Usha
- Kline, Antonie D.
- Lauzon, Julie
- Lildballe, Dorte L.
- López-González, Vanesa
- Martinezmoles, Johanna
- Meldrum, Cliff
- Mirzaa, Ghayda M.
- Morel, Chantal F.
- Morton, Jenny E.V.
- Pyle, Louise C.
- Quintero-Rivera, Fabiola
- Richer, Julie
- Scheuerle, Angela E.
- Schönewolf-Greulich, Bitten
- Shears, Deborah J.
- Silver, Josh
- Smith, Amanda C.
- Temple, I. Karen
- van de Kamp, Jiddeke M.
- van Dijk, Fleur S.
- Vandersteen, Anthony M.
- White, Sue M.
- Zackai, Elaine H.
- Zou, Ruobing
- Consortium, Care4Rare Canada
- Bulman, Dennis E.
- Boycott, Kym M.
- Lines, Matthew A.
2016
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Neurology. Genetics, 2020-08, Vol.6 (4), p.e452-e452
2020
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Genetics in Medicine Open, 2024, Vol.2, p.100841, Article 100841
2024
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Human molecular genetics, 2006-03, Vol.15 (6), p.905-919
2006
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American journal of respiratory and critical care medicine, 2014-03, Vol.189 (6), p.750-752
2014
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Canadian journal of neurological sciences, 2019-11, Vol.46 (6), p.717-726
- Paik, Karen
- Lines, Matthew A
- Chakraborty, Pranesh
- Khangura, Sara D
- Latocki, Maureen
- Al-Hertani, Walla
- Brunel-Guitton, Catherine
- Khan, Aneal
- Penny, Blaine
- Rockman-Greenberg, Cheryl
- Rupar, C Anthony
- Sondheimer, Neal
- Tarnopolsky, Mark
- Tingley, Kylie
- Coyle, Doug
- Dyack, Sarah
- Feigenbaum, Annette
- Geraghty, Michael T
- Gillis, Jane
- van Karnebeek, Clara D M
- Kronick, Jonathan B
- Little, Julian
- Potter, Murray
- Siriwardena, Komudi
- Sparkes, Rebecca
- Turner, Lesley A
- Wilson, Kumanan
- Buhas, Daniela
- Potter, Beth K
2019
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