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Science (American Association for the Advancement of Science), 2017-03, Vol.355 (6332), p.1390-1390
2017
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Genetics in medicine, 2019-11, Vol.21 (11), p.2504-2511
2019
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Genetics in medicine, 2021-08, Vol.23 (8), p.1474-1483
- Zanoni, Paolo
- Steindl, Katharina
- Sengupta, Deepanwita
- Joset, Pascal
- Bahr, Angela
- Sticht, Heinrich
- Lang-Muritano, Mariarosaria
- van Ravenswaaij-Arts, Conny M.A.
- Shinawi, Marwan
- Andrews, Marisa
- Attie-Bitach, Tania
- Maystadt, Isabelle
- Belnap, Newell
- Benoit, Valerie
- Delplancq, Geoffroy
- de Vries, Bert B.A.
- Grotto, Sarah
- Lacombe, Didier
- Larson, Austin
- Mourmans, Jeroen
- Õunap, Katrin
- Petrilli, Giulia
- Pfundt, Rolph
- Ramsey, Keri
- Blok, Lot Snijders
- Tsatsaris, Vassilis
- Vitobello, Antonio
- Faivre, Laurence
- Wheeler, Patricia G.
- Wevers, Marijke R.
- Wojcik, Monica
- Zweier, Markus
- Gozani, Or
- Rauch, Anita
2021
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European journal of human genetics : EJHG, 2022-01, Vol.30 (1), p.111-116
- Bruel, Ange-Line
- Vitobello, Antonio
- Thiffault, Isabelle
- Manwaring, Linda
- Willing, Marcia
- Agrawal, Pankaj B
- Bayat, Allan
- Kitzler, Thomas M
- Brownstein, Catherine A
- Genetti, Casie A
- Gonzalez-Heydrich, Joseph
- Jayakar, Parul
- Zyskind, Jacob W
- Zhu, Zehua
- Vachet, Clemence
- Wilson, Gena R
- Pruniski, Brianna
- Goyette, Anne-Marie
- Duffourd, Yannis
- Thauvin-Robinet, Christel
- Philippe, Christophe
- Faivre, Laurence
2022
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Developmental cell, 2011-04, Vol.20 (4), p.469-482
2011
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Genetics in medicine, 2021-10, Vol.23 (10), p.1901-1911
- Thomas, Quentin
- Gautier, Thierry
- Marafi, Dana
- Besnard, Thomas
- Willems, Marjolaine
- Moutton, Sébastien
- Isidor, Bertand
- Cogné, Benjamin
- Conrad, Solène
- Tenconi, Romano
- Iascone, Maria
- Sorlin, Arthur
- Masurel, Alice
- Dabir, Tabib
- Jackson, Adam
- Banka, Siddharth
- Delanne, Julian
- Lupski, James R.
- Saadi, Nebal Waill
- Alkuraya, Fowzan S.
- Zahrani, Fatema Al
- Agrawal, Pankaj B.
- England, Eleina
- Madden, Jill A.
- Posey, Jennifer E.
- Burglen, Lydie
- Rodriguez, Diana
- Chevarin, Martin
- Nguyen, Sylvie
- Mau-Them, Frédéric Tran
- Duffourd, Yannis
- Garret, Philippine
- Bruel, Ange-Line
- Callier, Patrick
- Marle, Nathalie
- Denomme-Pichon, Anne-Sophie
- Duplomb, Laurence
- Philippe, Christophe
- Thauvin-Robinet, Christel
- Govin, Jérôme
- Faivre, Laurence
- Vitobello, Antonio
2021
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Disease models & mechanisms, 2023-03, Vol.16 (3)
- Oleari, Roberto
- Lettieri, Antonella
- Manzini, Stefano
- Paganoni, Alyssa
- André, Valentina
- Grazioli, Paolo
- Busnelli, Marco
- Duminuco, Paolo
- Vitobello, Antonio
- Philippe, Christophe
- Bizaoui, Varoona
- Storr, Helen L
- Amoruso, Federica
- Memi, Fani
- Vezzoli, Valeria
- Massa, Valentina
- Scheiffele, Peter
- Howard, Sasha R
- Cariboni, Anna
2023
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European journal of human genetics : EJHG, 2019-08, Vol.27 (8), p.1197-1214
- Thauvin-Robinet, Christel
- Thevenon, Julien
- Nambot, Sophie
- Delanne, Julian
- Kuentz, Paul
- Bruel, Ange-Line
- Chassagne, Aline
- Cretin, Elodie
- Pelissier, Aurore
- Peyron, Chritine
- Gautier, Elodie
- Lehalle, Daphné
- Jean-Marçais, Nolwenn
- Callier, Patrick
- Mosca-Boidron, Anne-Laure
- Vitobello, Antonio
- Sorlin, Arthur
- Tran Mau-Them, Frédéric
- Philippe, Christophe
- Vabres, Pierre
- Demougeot, Laurent
- Poé, Charlotte
- Jouan, Thibaud
- Chevarin, Martin
- Lefebvre, Mathilde
- Bardou, Marc
- Tisserant, Emilie
- Luu, Maxime
- Binquet, Christine
- Deleuze, Jean-François
- Verstuyft, Céline
- Duffourd, Yannis
- Faivre, Laurence
2019
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Stem cell research, 2021-05, Vol.53, p.102311-102311, Article 102311
2021
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HGG advances, 2023-10, Vol.4 (4), p.100238-100238, Article 100238
2023
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Epilepsia open, 2019-09, Vol.4 (3), p.464-475
2019
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Molecular genetics & genomic medicine, 2021-12, Vol.9 (12), p.e1836-n/a
- Tran Mau‐Them, Frederic
- Duffourd, Yannis
- Vitobello, Antonio
- Bruel, Ange‐Line
- Denommé‐Pichon, Anne‐Sophie
- Nambot, Sophie
- Delanne, Julian
- Moutton, Sebastien
- Sorlin, Arthur
- Couturier, Victor
- Bourgeois, Valentin
- Chevarin, Martin
- Poe, Charlotte
- Mosca‐Boidron, Anne‐Laure
- Callier, Patrick
- Safraou, Hana
- Faivre, Laurence
- Philippe, Christophe
- Thauvin‐Robinet, Christel
2021
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Toxicological sciences, 2014-06, Vol.139 (2), p.501-511
- Luisier, Raphaëlle
- Lempiäinen, Harri
- Scherbichler, Nina
- Braeuning, Albert
- Geissler, Miriam
- Dubost, Valerie
- Müller, Arne
- Scheer, Nico
- Chibout, Salah-Dine
- Hara, Hisanori
- Picard, Frank
- Theil, Diethilde
- Couttet, Philippe
- Vitobello, Antonio
- Grenet, Olivier
- Grasl-Kraupp, Bettina
- Ellinger-Ziegelbauer, Heidrun
- Thomson, John P.
- Meehan, Richard R.
- Elcombe, Clifford R.
- Henderson, Colin J.
- Wolf, C. Roland
- Schwarz, Michael
- Moulin, Pierre
- Terranova, Rémi
- Moggs, Jonathan G.
2014
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American journal of human genetics, 2020-03, Vol.106 (3), p.356-370
- Aref-Eshghi, Erfan
- Kerkhof, Jennifer
- Pedro, Victor P.
- Barat-Houari, Mouna
- Ruiz-Pallares, Nathalie
- Andrau, Jean-Christophe
- Lacombe, Didier
- Van-Gils, Julien
- Fergelot, Patricia
- Dubourg, Christèle
- Cormier-Daire, Valerie
- Rondeau, Sophie
- Lecoquierre, François
- Saugier-Veber, Pascale
- Nicolas, Gaël
- Lesca, Gaetan
- Chatron, Nicolas
- Sanlaville, Damien
- Vitobello, Antonio
- Faivre, Laurence
- Thauvin-Robinet, Christel
- Laumonnier, Frederic
- Raynaud, Martine
- Alders, Mariëlle
- Mannens, Marcel
- Henneman, Peter
- Hennekam, Raoul C.
- Velasco, Guillaume
- Francastel, Claire
- Ulveling, Damien
- Ciolfi, Andrea
- Pizzi, Simone
- Tartaglia, Marco
- Heide, Solveig
- Héron, Delphine
- Mignot, Cyril
- Keren, Boris
- Whalen, Sandra
- Afenjar, Alexandra
- Bienvenu, Thierry
- Campeau, Philippe M.
- Rousseau, Justine
- Levy, Michael A.
- Brick, Lauren
- Kozenko, Mariya
- Balci, Tugce B.
- Siu, Victoria Mok
- Stuart, Alan
- Kadour, Mike
- Masters, Jennifer
- Takano, Kyoko
- Kleefstra, Tjitske
- de Leeuw, Nicole
- Field, Michael
- Shaw, Marie
- Gecz, Jozef
- Ainsworth, Peter J.
- Lin, Hanxin
- Rodenhiser, David I.
- Friez, Michael J.
- Tedder, Matt
- Lee, Jennifer A.
- DuPont, Barbara R.
- Stevenson, Roger E.
- Skinner, Steven A.
- Schwartz, Charles E.
- Genevieve, David
- Sadikovic, Bekim
2020
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Neurological sciences, 2023-05, Vol.44 (5), p.1795-1797
2023
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Genetics in medicine, 2018-06, Vol.20 (6), p.645-654
- Nambot, Sophie
- Thevenon, Julien
- Kuentz, Paul
- Duffourd, Yannis
- Tisserant, Emilie
- Bruel, Ange-Line
- Mosca-Boidron, Anne-Laure
- Masurel-Paulet, Alice
- Lehalle, Daphné
- Jean-Marçais, Nolwenn
- Lefebvre, Mathilde
- Vabres, Pierre
- El Chehadeh-Djebbar, Salima
- Philippe, Christophe
- Tran Mau-Them, Frederic
- St-Onge, Judith
- Jouan, Thibaud
- Chevarin, Martin
- Poé, Charlotte
- Carmignac, Virginie
- Vitobello, Antonio
- Callier, Patrick
- Rivière, Jean-Baptiste
- Faivre, Laurence
- Thauvin-Robinet, Christel
2018
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Toxicology letters, 2017-10, Vol.280, p.S9-S9
2017
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Human molecular genetics, 2019-09, Vol.28 (17), p.2937-2951
- Liang, Lina
- Li, Xia
- Moutton, Sébastien
- Schrier Vergano, Samantha A
- Cogné, Benjamin
- Saint-Martin, Anne
- Hurst, Anna C E
- Hu, Yushuang
- Bodamer, Olaf
- Thevenon, Julien
- Hung, Christina Y
- Isidor, Bertrand
- Gerard, Bénédicte
- Rega, Adelaide
- Nambot, Sophie
- Lehalle, Daphné
- Duffourd, Yannis
- Thauvin-Robinet, Christel
- Faivre, Laurence
- Bézieau, Stéphane
- Dure, Leon S
- Helbling, Daniel C
- Bick, David
- Xu, Chengqi
- Chen, Qiuyun
- Mancini, Grazia M S
- Vitobello, Antonio
- Wang, Qing Kenneth
2019
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American journal of human genetics, 2019-04, Vol.104 (4), p.721-730
- Salpietro, Vincenzo
- Malintan, Nancy T.
- Llano-Rivas, Isabel
- Spaeth, Christine G.
- Efthymiou, Stephanie
- Striano, Pasquale
- Vandrovcova, Jana
- Cutrupi, Maria C.
- Chimenz, Roberto
- David, Emanuele
- Di Rosa, Gabriella
- Marce-Grau, Anna
- Raspall-Chaure, Miquel
- Martin-Hernandez, Elena
- Zara, Federico
- Minetti, Carlo
- Kriouile, Yamna
- El Khorassani, Mohamed
- Aguennouz, Mhammed
- Karashova, Blagovesta
- Avdjieva, Daniela
- Kathom, Hadil
- Tincheva, Radka
- Van Maldergem, Lionel
- Nachbauer, Wolfgang
- Boesch, Sylvia
- Arning, Larissa
- Timmann, Dagmar
- Cormand, Bru
- Pérez-Dueñas, Belen
- Pironti, Erica
- Goraya, Jatinder S.
- Sultan, Tipu
- Kirmani, Salman
- Ibrahim, Shahnaz
- Jan, Farida
- Mine, Jun
- Banu, Selina
- Veggiotti, Pierangelo
- Ferrari, Michel D.
- Verrotti, Alberto
- Marseglia, Gian Luigi
- Savasta, Salvatore
- Garavaglia, Barbara
- Scuderi, Carmela
- Borgione, Eugenia
- Dipasquale, Valeria
- Cutrupi, Maria Concetta
- Portaro, Simona
- Sanchez, Benigno Monteagudo
- Pineda-Marfa’, Mercedes
- Munell, Francina
- Macaya, Alfons
- Boles, Richard
- Heimer, Gali
- Papacostas, Savvas
- Manole, Andreea
- Malintan, Nancy
- Zanetti, Maria Natalia
- Hanna, Michael G.
- Rothman, James E.
- Kullmann, Dimitri M.
- Houlden, Henry
- Bello, Oscar D.
- De Zorzi, Rita
- Fortuna, Sara
- Dauber, Andrew
- Alkhawaja, Mariam
- Mankad, Kshitij
- Vitobello, Antonio
- Thomas, Quentin
- Mau-Them, Frederic Tran
- Faivre, Laurence
- Martinez-Azorin, Francisco
- Prada, Carlos E.
- Krishnakumar, Shyam S.
2019
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Annals of neurology, 2019-08, Vol.86 (2), p.181-192
- Sands, Tristan T.
- Miceli, Francesco
- Lesca, Gaetan
- Beck, Anita E.
- Sadleir, Lynette G.
- Arrington, Daniel K.
- Schönewolf‐Greulich, Bitten
- Moutton, Sébastien
- Lauritano, Anna
- Nappi, Piera
- Soldovieri, Maria Virginia
- Scheffer, Ingrid E.
- Mefford, Heather C.
- Stong, Nicholas
- Heinzen, Erin L.
- Goldstein, David B.
- Perez, Ana Grijalvo
- Kossoff, Eric H.
- Stocco, Amber
- Sullivan, Jennifer A.
- Shashi, Vandana
- Gerard, Benedicte
- Francannet, Christine
- Bisgaard, Anne‐Marie
- Tümer, Zeynep
- Willems, Marjolaine
- Rivier, François
- Vitobello, Antonio
- Thakkar, Kavita
- Rajan, Deepa S.
- Barkovich, A. James
- Weckhuysen, Sarah
- Cooper, Edward C.
- Taglialatela, Maurizio
- Cilio, M. Roberta
2019
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European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1325-1331
- Zurek, Birte
- Ellwanger, Kornelia
- Vissers, Lisenka E L M
- Schüle, Rebecca
- Synofzik, Matthis
- Töpf, Ana
- de Voer, Richarda M
- Laurie, Steven
- Matalonga, Leslie
- Gilissen, Christian
- Ossowski, Stephan
- 't Hoen, Peter A C
- Vitobello, Antonio
- Schulze-Hentrich, Julia M
- Riess, Olaf
- Brunner, Han G
- Brookes, Anthony J
- Rath, Ana
- Bonne, Gisèle
- Gumus, Gulcin
- Verloes, Alain
- Hoogerbrugge, Nicoline
- Evangelista, Teresinha
- Harmuth, Tina
- Swertz, Morris
- Spalding, Dylan
- Hoischen, Alexander
- Beltran, Sergi
- Graessner, Holm
2021
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Human genetics, 2021-07, Vol.140 (7), p.1109-1120
- Parenti, Ilaria
- Lehalle, Daphné
- Nava, Caroline
- Torti, Erin
- Leitão, Elsa
- Person, Richard
- Mizuguchi, Takeshi
- Matsumoto, Naomichi
- Kato, Mitsuhiro
- Nakamura, Kazuyuki
- de Man, Stella A.
- Cope, Heidi
- Shashi, Vandana
- Friedman, Jennifer
- Joset, Pascal
- Steindl, Katharina
- Rauch, Anita
- Muffels, Irena
- van Hasselt, Peter M.
- Petit, Florence
- Smol, Thomas
- Le Guyader, Gwenaël
- Bilan, Frédéric
- Sorlin, Arthur
- Vitobello, Antonio
- Philippe, Christophe
- van de Laar, Ingrid M. B. H.
- van Slegtenhorst, Marjon A.
- Campeau, Philippe M.
- Au, Ping Yee Billie
- Nakashima, Mitsuko
- Saitsu, Hirotomo
- Yamamoto, Tatsuya
- Nomura, Yumiko
- Louie, Raymond J.
- Lyons, Michael J.
- Dobson, Amy
- Plomp, Astrid S.
- Motazacker, M. Mahdi
- Kaiser, Frank J.
- Timberlake, Andrew T.
- Fuchs, Sabine A.
- Depienne, Christel
- Mignot, Cyril
2021
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European journal of human genetics : EJHG, 2023-03, Vol.31 (3), p.345-352
2023
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European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1337-1347
- Matalonga, Leslie
- Hernández-Ferrer, Carles
- Piscia, Davide
- Schüle, Rebecca
- Synofzik, Matthis
- Töpf, Ana
- Vissers, Lisenka E L M
- de Voer, Richarda
- Tonda, Raul
- Laurie, Steven
- Fernandez-Callejo, Marcos
- Picó, Daniel
- Garcia-Linares, Carles
- Papakonstantinou, Anastasios
- Corvó, Alberto
- Joshi, Ricky
- Diez, Hector
- Gut, Ivo
- Hoischen, Alexander
- Graessner, Holm
- Beltran, Sergi
2021
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American journal of human genetics, 2021-03, Vol.108 (3), p.502-516
- Radio, Francesca Clementina
- Ciolfi, Andrea
- Levy, Michael A.
- Hernández-García, Andrés
- Pedace, Lucia
- Pantaleoni, Francesca
- Liu, Zhandong
- de Boer, Elke
- Jackson, Adam
- Bruselles, Alessandro
- McConkey, Haley
- Stellacci, Emilia
- Lo Cicero, Stefania
- Motta, Marialetizia
- Carrozzo, Rosalba
- McWalter, Kirsty
- Desai, Megha
- Monaghan, Kristin G.
- Telegrafi, Aida
- Philippe, Christophe
- Vitobello, Antonio
- Au, Margaret
- Grand, Katheryn
- Baez, Joanne
- Lindstrom, Kristin
- Kulch, Peggy
- Sebastian, Jessica
- Madan-Khetarpal, Suneeta
- Roadhouse, Chelsea
- MacKenzie, Jennifer J.
- Monteleone, Berrin
- Saunders, Carol J.
- Jean Cuevas, July K.
- Zhou, Dihong
- Sawyer, Sarah L.
- Monteiro, Fabíola Paoli
- Secches, Tania Vertemati
- Kok, Fernando
- Schultz-Rogers, Laura E.
- Morava, Eva
- Klee, Eric W.
- Kemppainen, Jennifer
- Iascone, Maria
- Selicorni, Angelo
- Tenconi, Romano
- Pais, Lynn
- Gallacher, Lyndon
- Turnpenny, Peter D.
- Stals, Karen
- Ellard, Sian
- Cabet, Sara
- Lesca, Gaetan
- Pascal, Joset
- Steindl, Katharina
- Weiss, Karin
- Carter, Melissa T.
- Kalsner, Louisa
- de Vries, Bert B.A.
- van Bon, Bregje W.
- Wevers, Marijke R.
- Pfundt, Rolph
- Stegmann, Alexander P.A.
- Kerr, Bronwyn
- Chandler, Kate E.
- Sheehan, Willow
- Elias, Abdallah F.
- Shinde, Deepali N.
- Towne, Meghan C.
- Robin, Nathaniel H.
- Goodloe, Dana
- Vanderver, Adeline
- Sherbini, Omar
- Bluske, Krista
- Faletra, Flavio
- Musante, Luciana
- Kurtz-Nelson, Evangeline C.
- Earl, Rachel K.
- Anderlid, Britt-Marie
- Morin, Gilles
- van Slegtenhorst, Marjon
- Diderich, Karin E.M.
- Brooks, Alice S.
- Gribnau, Joost
- Boers, Ruben G.
- Finestra, Teresa Robert
- Carter, Lauren B.
- Rauch, Anita
- Gasparini, Paolo
- Boycott, Kym M.
- Barakat, Tahsin Stefan
- Graham, John M.
- Faivre, Laurence
- Banka, Siddharth
- Wang, Tianyun
- Eichler, Evan E.
- Dallapiccola, Bruno
- Vissers, Lisenka E.L.M.
- Sadikovic, Bekim
- Holder, Jimmy Lloyd
- Tartaglia, Marco
2021
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