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Genes & development, 2016-04, Vol.30 (7), p.812-826
2016
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Proceedings of the National Academy of Sciences - PNAS, 2013-02, Vol.110 (7), p.2611-2616
2013
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Journal of clinical pharmacology, 2016-02, Vol.56 (2), p.170-175
2016
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The Lancet (British edition), 2006-08, Vol.368 (9536), p.704-704
2006
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Nature communications, 2021-08, Vol.12 (1), p.4680-4680, Article 4680
- Timberlake, Andrew T.
- Griffin, Casey
- Heike, Carrie L.
- Hing, Anne V.
- Cunningham, Michael L.
- Chitayat, David
- Davis, Mark R.
- Doust, Soghra J.
- Drake, Amelia F.
- Duenas-Roque, Milagros M.
- Goldblatt, Jack
- Gustafson, Jonas A.
- Hurtado-Villa, Paula
- Johns, Alexis
- Karp, Natalya
- Laing, Nigel G.
- Magee, Leanne
- Mullegama, Sureni V.
- Pachajoa, Harry
- Porras-Hurtado, Gloria L.
- Schnur, Rhonda E.
- Slee, Jennie
- Singer, Steven L.
- Staffenberg, David A.
- Timms, Andrew E.
- Wise, Cheryl A.
- Zarante, Ignacio
- Saint-Jeannet, Jean-Pierre
- Luquetti, Daniela V.
2021
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American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.296-312
- Crow, Yanick J.
- Chase, Diana S.
- Lowenstein Schmidt, Johanna
- Szynkiewicz, Marcin
- Forte, Gabriella M.A.
- Gornall, Hannah L.
- Oojageer, Anthony
- Anderson, Beverley
- Helman, Guy
- Abdel-Salam, Ghada M.
- Aeby, Alec
- Agosta, Guillermo
- Albin, Catherine
- Allon-Shalev, Stavit
- Arellano, Montse
- Ariaudo, Giada
- Aswani, Vijay
- Babul-Hirji, Riyana
- Bahi-Buisson, Nadia
- Bailey, Kathryn M.
- Barth, Magalie
- Battini, Roberta
- Beresford, Michael W.
- Bernard, Geneviève
- Bianchi, Marika
- Blair, Edward M.
- Burlina, Alberto B.
- Luisa Carpanelli, Maria
- Castro-Gago, Manuel
- Cavallini, Anna
- Cereda, Cristina
- Chandler, Kate E.
- Chitayat, David A.
- Collins, Abigail E.
- Sierra Corcoles, Concepcion
- Cordeiro, Nuno J.V.
- Crichiutti, Giovanni
- Dabydeen, Lyvia
- Dale, Russell C.
- De Goede, Christian G.E.L.
- De Laet, Corinne
- De Waele, Liesbeth M.H.
- Desguerre, Isabelle
- Devriendt, Koenraad
- Fazzi, Elisa
- Figueiredo, António
- Gener, Blanca
- Goizet, Cyril
- Gowrishankar, Kalpana
- Hanrahan, Donncha
- Isidor, Bertrand
- Khan, Nasaim
- King, Mary D.
- Kumar, Ram
- Landrieu, Pierre
- Lauffer, Heinz
- Laugel, Vincent
- Lim, Ming J.
- Lin, Jean-Pierre S.-M.
- Linnankivi, Tarja
- Mackay, Mark T.
- Marom, Daphna R.
- McKee, Shane A.
- Murray, Kevin
- Nabbout, Rima
- Nampoothiri, Sheela
- Nunez-Enamorado, Noemi
- Oades, Patrick J.
- Ostergaard, John R.
- Pérez-Dueñas, Belén
- Prendiville, Julie S.
- Rasmussen, Magnhild
- Ricci, Federica
- Rio, Marlène
- Rodriguez, Diana
- Roubertie, Agathe
- Sinha, Gyanranjan P.
- Soler, Doriette
- Spiegel, Ronen
- Stödberg, Tommy I.
- Straussberg, Rachel
- Suri, Mohnish
- Tan, Tiong Y.
- te Water Naude, Johann
- Maria Valente, Enza
- van der Knaap, Marjo S.
- Vassallo, Grace
- Vijzelaar, Raymon
- Wallace, Geoffrey B.
- Wassmer, Evangeline
- Webb, Hannah J.
- Whitehouse, William P.
- Whitney, Robyn N.
- Zaki, Maha S.
- Zuberi, Sameer M.
- Livingston, John H.
- Rozenberg, Flore
- Vanderver, Adeline
- Orcesi, Simona
- Rice, Gillian I.
2015
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Nature genetics, 2013-11, Vol.45 (11), p.1300-1308
- Cappello, Silvia
- Gray, Mary J
- Badouel, Caroline
- Lange, Simona
- Einsiedler, Melanie
- Srour, Myriam
- Chitayat, David
- Hamdan, Fadi F
- Jenkins, Zandra A
- Morgan, Tim
- Preitner, Nadia
- Uster, Tami
- Thomas, Jackie
- Shannon, Patrick
- Morrison, Victoria
- Di Donato, Nataliya
- Van Maldergem, Lionel
- Neuhann, Teresa
- Newbury-Ecob, Ruth
- Swinkells, Marielle
- Terhal, Paulien
- Wilson, Louise C
- Zwijnenburg, Petra J G
- Sutherland-Smith, Andrew J
- Black, Michael A
- Markie, David
- Michaud, Jacques L
- Simpson, Michael A
- Mansour, Sahar
- McNeill, Helen
- Götz, Magdalena
- Robertson, Stephen P
2013
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American journal of human genetics, 2020-05, Vol.106 (5), p.596-610
- Choufani, Sanaa
- Gibson, William T.
- Turinsky, Andrei L.
- Chung, Brian H.Y.
- Wang, Tianren
- Garg, Kopal
- Vitriolo, Alessandro
- Cohen, Ana S.A.
- Cyrus, Sharri
- Goodman, Sarah
- Chater-Diehl, Eric
- Brzezinski, Jack
- Brudno, Michael
- Ming, Luk Ho
- White, Susan M.
- Lynch, Sally Ann
- Clericuzio, Carol
- Temple, I. Karen
- Flinter, Frances
- McConnell, Vivienne
- Cushing, Tom
- Bird, Lynne M.
- Splitt, Miranda
- Kerr, Bronwyn
- Scherer, Stephen W.
- Machado, Jerry
- Imagawa, Eri
- Okamoto, Nobuhiko
- Matsumoto, Naomichi
- Testa, Guiseppe
- Iascone, Maria
- Tenconi, Romano
- Caluseriu, Oana
- Mendoza-Londono, Roberto
- Chitayat, David
- Cytrynbaum, Cheryl
- Tatton-Brown, Katrina
- Weksberg, Rosanna
2020
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Epilepsia (Copenhagen), 2013-07, Vol.54 (7), p.1282-1287
- Kato, Mitsuhiro
- Yamagata, Takanori
- Kubota, Masaya
- Arai, Hiroshi
- Yamashita, Sumimasa
- Nakagawa, Taku
- FujII, Takanari
- Sugai, Kenji
- Imai, Kaoru
- Uster, Tami
- Chitayat, David
- Weiss, Shelly
- Kashii, Hirofumi
- Kusano, Ryosuke
- Matsumoto, Ayumi
- Nakamura, Kazuyuki
- Oyazato, Yoshinobu
- Maeno, Mari
- Nishiyama, Kiyomi
- Kodera, Hirofumi
- Nakashima, Mitsuko
- Tsurusaki, Yoshinori
- Miyake, Noriko
- Saito, Kayoko
- Hayasaka, Kiyoshi
- Matsumoto, Naomichi
- Saitsu, Hirotomo
2013
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American journal of human genetics, 2008-02, Vol.82 (2), p.477-488
- Marshall, Christian R.
- Noor, Abdul
- Vincent, John B.
- Lionel, Anath C.
- Feuk, Lars
- Skaug, Jennifer
- Shago, Mary
- Moessner, Rainald
- Pinto, Dalila
- Ren, Yan
- Thiruvahindrapduram, Bhooma
- Fiebig, Andreas
- Schreiber, Stefan
- Friedman, Jan
- Ketelaars, Cees E.J.
- Vos, Yvonne J.
- Ficicioglu, Can
- Kirkpatrick, Susan
- Nicolson, Rob
- Sloman, Leon
- Summers, Anne
- Gibbons, Clare A.
- Teebi, Ahmad
- Chitayat, David
- Weksberg, Rosanna
- Thompson, Ann
- Vardy, Cathy
- Crosbie, Vicki
- Luscombe, Sandra
- Baatjes, Rebecca
- Zwaigenbaum, Lonnie
- Roberts, Wendy
- Fernandez, Bridget
- Szatmari, Peter
- Scherer, Stephen W.
2008
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Science (American Association for the Advancement of Science), 2021-07, Vol.373 (6551)
- Wagenblast, Elvin
- Araújo, Joana
- Gan, Olga I
- Cutting, Sarah K
- Murison, Alex
- Krivdova, Gabriela
- Azkanaz, Maria
- McLeod, Jessica L
- Smith, Sabrina A
- Gratton, Blaise A
- Marhon, Sajid A
- Gabra, Martino
- Medeiros, Jessie J F
- Manteghi, Sanaz
- Chen, Jian
- Chan-Seng-Yue, Michelle
- Garcia-Prat, Laura
- Salmena, Leonardo
- De Carvalho, Daniel D
- Abelson, Sagi
- Abdelhaleem, Mohamed
- Chong, Karen
- Roifman, Maian
- Shannon, Patrick
- Wang, Jean C Y
- Hitzler, Johann K
- Chitayat, David
- Dick, John E
- Lechman, Eric R
2021
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American journal of human genetics, 2017-03, Vol.100 (3), p.488-505
- Barbé, Lise
- Lanni, Stella
- López-Castel, Arturo
- Franck, Silvie
- Spits, Claudia
- Keymolen, Kathelijn
- Seneca, Sara
- Tomé, Stephanie
- Miron, Ioana
- Letourneau, Julie
- Liang, Minggao
- Choufani, Sanaa
- Weksberg, Rosanna
- Wilson, Michael D.
- Sedlacek, Zdenek
- Gagnon, Cynthia
- Musova, Zuzana
- Chitayat, David
- Shannon, Patrick
- Mathieu, Jean
- Sermon, Karen
- Pearson, Christopher E.
2017
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Genetics in medicine, 2018-07, Vol.20 (7), p.745-753
- Boissel, Sarah
- Fallet-Bianco, Catherine
- Chitayat, David
- Kremer, Valérie
- Nassif, Christina
- Rypens, Françoise
- Delrue, Marie-Ange
- Dal Soglio, Dorothée
- Oligny, Luc L.
- Patey, Natalie
- Flori, Elisabeth
- Cloutier, Mireille
- Dyment, David
- Campeau, Philippe
- Karalis, Aspasia
- Nizard, Sonia
- Fraser, William D.
- Audibert, François
- Lemyre, Emmanuelle
- Rouleau, Guy A.
- Hamdan, Fadi F.
- Kibar, Zoha
- Michaud, Jacques L.
2018
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Journal of neuropathology and experimental neurology, 2018-12, Vol.77 (12), p.1071-1078
2018
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American journal of human genetics, 2020-01, Vol.106 (1), p.121-128
- Hughes, Joel J.
- Alkhunaizi, Ebba
- Kruszka, Paul
- Pyle, Louise C.
- Grange, Dorothy K.
- Berger, Seth I.
- Payne, Katelyn K.
- Masser-Frye, Diane
- Hu, Tommy
- Christie, Michelle R.
- Clegg, Nancy J.
- Everson, Joshua L.
- Martinez, Ariel F.
- Walsh, Laurence E.
- Bedoukian, Emma
- Jones, Marilyn C.
- Harris, Catharine Jean
- Riedhammer, Korbinian M.
- Choukair, Daniela
- Fechner, Patricia Y.
- Rutter, Meilan M.
- Hufnagel, Sophia B.
- Roifman, Maian
- Kletter, Gad B.
- Delot, Emmanuele
- Vilain, Eric
- Lipinski, Robert J.
- Vezina, Chad M.
- Muenke, Maximilian
- Chitayat, David
2020
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Developmental biology, 2008-08, Vol.320 (1), p.79-91
2008
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Nature genetics, 2006-08, Vol.38 (8), p.910-916
- Bonthron, David T
- Goizet, Cyril
- Déry, Catherine
- Woods, C Geoffrey
- Ali, Manir
- Weschke, Bernhard
- Jackson, Andrew P
- Voit, Thomas
- King, Mary D
- Baumann, Clarisse
- Till, Marianne
- Quarrell, Oliver W
- Crow, Yanick J
- Cau, Daniel
- Lacombe, Didier
- Lyall, Hermione
- Lanzi, Giovanni
- Stephenson, John B P
- Griffith, Elen
- Garner, Anna
- Parmar, Rekha
- Lebon, Pierre
- McKeown, Carole
- Rogers, R Curtis
- Hayward, Bruce E
- Babul-Hirji, Riyana
- Bertini, Enrico
- Martínez-Frías, María Luisa
- Monier, Anne
- Leitch, Andrea
- Rittey, Christopher D
- Semple, Colin
- Aicardi, Jean
- Chitayat, David
- Tolmie, John L
- Ponting, Chris P
- Baxter, Peter
- Tacke, Uta
- Mathieu, Michèle
- Sanchis, Amparo
- Tomlin, Pam
- Oade, Yvette
- Klepper, Joerg
- Fazzi, Elisa
- Chandler, Kate E
2006
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Human molecular genetics, 2011-01, Vol.20 (1), p.1-15
2011
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Genetics in medicine, 2019-04, Vol.21 (4), p.1021-1026
- Costain, Gregory
- Callewaert, Bert
- Gabriel, Heinz
- Tan, Tiong Y.
- Walker, Susan
- Christodoulou, John
- Lazar, Tamas
- Menten, Björn
- Orkin, Julia
- Sadedin, Simon
- Snell, Meaghan
- Vanlander, Arnaud
- Vergult, Sarah
- White, Susan M.
- Scherer, Stephen W.
- Hayeems, Robin Z.
- Blaser, Susan
- Wodak, Shoshana J.
- Chitayat, David
- Marshall, Christian R.
- Meyn, M. Stephen
2019
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Epilepsia (Copenhagen), 2016-11, Vol.57 (11), p.1858-1869
- Zerem, Ayelet
- Haginoya, Kazuhiro
- Lev, Dorit
- Blumkin, Lubov
- Kivity, Sara
- Linder, Ilan
- Shoubridge, Cheryl
- Palmer, Elizabeth Emma
- Field, Michael
- Boyle, Jackie
- Chitayat, David
- Gaillard, William D.
- Kossoff, Eric H.
- Willems, Marjolaine
- Geneviève, David
- Tran‐Mau‐Them, Frederic
- Epstein, Orna
- Heyman, Eli
- Dugan, Sarah
- Masurel‐Paulet, Alice
- Piton, Ame'lie
- Kleefstra, Tjitske
- Pfundt, Rolph
- Sato, Ryo
- Tzschach, Andreas
- Matsumoto, Naomichi
- Saitsu, Hirotomo
- Leshinsky‐Silver, Esther
- Lerman‐Sagie, Tally
2016
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eLife, 2016-04, Vol.5
2016
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Human molecular genetics, 2019-08, Vol.28 (16), p.2720-2737
- Dupont, Marie Alice
- Humbert, Camille
- Huber, Céline
- Siour, Quentin
- Guerrera, Ida Chiara
- Jung, Vincent
- Christensen, Anni
- Pouliet, Aurore
- Garfa-Traoré, Meriem
- Nitschké, Patrick
- Injeyan, Marie
- Millar, Kathryn
- Chitayat, David
- Shannon, Patrick
- Girisha, Katta Mohan
- Shukla, Anju
- Mechler, Charlotte
- Lorentzen, Esben
- Benmerah, Alexandre
- Cormier-Daire, Valérie
- Jeanpierre, Cécile
- Saunier, Sophie
- Delous, Marion
2019
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American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.182-187
2012
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Journal of the American Heart Association, 2013-06, Vol.2 (3), p.e000064-n/a
2013
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EMBO molecular medicine, 2021-05, Vol.13 (5), p.e13258-n/a
- van der Welle, Reini E N
- Jobling, Rebekah
- Burns, Christian
- Sanza, Paolo
- van der Beek, Jan A
- Fasano, Alfonso
- Chen, Lan
- Zwartkruis, Fried J
- Zwakenberg, Susan
- Griffin, Edward F
- ten Brink, Corlinda
- Veenendaal, Tineke
- Liv, Nalan
- van Ravenswaaij‐Arts, Conny M A
- Lemmink, Henny H
- Pfundt, Rolph
- Blaser, Susan
- Sepulveda, Carolina
- Lozano, Andres M
- Yoon, Grace
- Santiago‐Sim, Teresa
- Asensio, Cedric S
- Caldwell, Guy A
- Caldwell, Kim A
- Chitayat, David
- Klumperman, Judith
2021
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