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Genetics in medicine, 2020-11, Vol.22 (11), p.1838-1850
- Cappuccio, Gerarda
- Sayou, Camille
- Tanno, Pauline Le
- Tisserant, Emilie
- Bruel, Ange-Line
- Kennani, Sara El
- Sá, Joaquim
- Low, Karen J
- Dias, Cristina
- Havlovicová, Markéta
- Hančárová, Miroslava
- Eichler, Evan E
- Devillard, Françoise
- Moutton, Sébastien
- Van-Gils, Julien
- Dubourg, Christèle
- Odent, Sylvie
- Gerard, Bénédicte
- Piton, Amélie
- Yamamoto, Toshiyuki
- Okamoto, Nobuhiko
- Firth, Helen
- Metcalfe, Kay
- Moh, Anna
- Chapman, Kimberly A
- Aref-Eshghi, Erfan
- Kerkhof, Jennifer
- Torella, Annalaura
- Nigro, Vincenzo
- Perrin, Laurence
- Piard, Juliette
- Le Guyader, Gwenaël
- Jouan, Thibaud
- Thauvin-Robinet, Christel
- Duffourd, Yannis
- George-Abraham, Jaya K
- Buchanan, Catherine A
- Williams, Denise
- Kini, Usha
- Wilson, Kate
- Sousa, Sérgio B
- Hennekam, Raoul C M
- Sadikovic, Bekim
- Thevenon, Julien
- Govin, Jérôme
- Vitobello, Antonio
- Brunetti-Pierri, Nicola
2020
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Journal of medical genetics, 2020-03, Vol.57 (3), p.160
- Giabicani, Eloïse
- Willems, Marjolaine
- Steunou, Virginie
- Chantot-Bastaraud, Sandra
- Thibaud, Nathalie
- Abi Habib, Walid
- Azzi, Salah
- Lam, Bich
- Bérard, Laurence
- Bony-Trifunovic, Hélène
- Brachet, Cécile
- Brischoux-Boucher, Elise
- Caldagues, Emmanuelle
- Coutant, Regis
- Cuvelier, Marie-Laure
- Gelwane, Georges
- Guemas, Isabelle
- Houang, Muriel
- Isidor, Bertrand
- Jeandel, Claire
- Lespinasse, James
- Naud-Saudreau, Catherine
- Jesuran-Perelroizen, Monique
- Perrin, Laurence
- Piard, Juliette
- Sechter, Claire
- Souchon, Pierre-François
- Storey, Caroline
- Thomas, Domitille
- Le Bouc, Yves
- Rossignol, Sylvie
- Netchine, Irène
- Brioude, Frédéric
2020
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American journal of human genetics, 2017-11, Vol.101 (5), p.803-814
- De Tomasi, Lara
- David, Pierre
- Humbert, Camille
- Silbermann, Flora
- Arrondel, Christelle
- Tores, Frédéric
- Fouquet, Stéphane
- Desgrange, Audrey
- Niel, Olivier
- Bole-Feysot, Christine
- Nitschké, Patrick
- Roume, Joëlle
- Cordier, Marie-Pierre
- Pietrement, Christine
- Isidor, Bertrand
- Khau Van Kien, Philippe
- Gonzales, Marie
- Saint-Frison, Marie-Hélène
- Martinovic, Jelena
- Novo, Robert
- Piard, Juliette
- Cabrol, Christelle
- Verma, Ishwar C.
- Puri, Ratna
- Journel, Hubert
- Aziza, Jacqueline
- Gavard, Laurent
- Said-Menthon, Marie-Hélène
- Heidet, Laurence
- Saunier, Sophie
- Jeanpierre, Cécile
2017
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American journal of human genetics, 2019-06, Vol.104 (6), p.1223-1232
- Capri, Yline
- Flex, Elisabetta
- Krumbach, Oliver H.F.
- Carpentieri, Giovanna
- Cecchetti, Serena
- Lißewski, Christina
- Rezaei Adariani, Soheila
- Schanze, Denny
- Brinkmann, Julia
- Piard, Juliette
- Pantaleoni, Francesca
- Lepri, Francesca R.
- Goh, Elaine Suk-Ying
- Chong, Karen
- Stieglitz, Elliot
- Meyer, Julia
- Kuechler, Alma
- Bramswig, Nuria C.
- Sacharow, Stephanie
- Strullu, Marion
- Vial, Yoann
- Vignal, Cédric
- Kensah, George
- Cuturilo, Goran
- Kazemein Jasemi, Neda S.
- Dvorsky, Radovan
- Monaghan, Kristin G.
- Vincent, Lisa M.
- Cavé, Hélène
- Verloes, Alain
- Ahmadian, Mohammad R.
- Tartaglia, Marco
- Zenker, Martin
2019
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Genetics in medicine, 2019-06, Vol.21 (6), p.1308-1318
- Piard, Juliette
- Hawkes, Lara
- Milh, Mathieu
- Villard, Laurent
- Borgatti, Renato
- Romaniello, Romina
- Fradin, Melanie
- Capri, Yline
- Héron, Delphine
- Nougues, Marie-Christine
- Nava, Caroline
- Arsene, Oana Tarta
- Shears, Debbie
- Taylor, John
- Pagnamenta, Alistair
- Taylor, Jenny C
- Sogawa, Yoshimi
- Johnson, Diana
- Firth, Helen
- Vasudevan, Pradeep
- Jones, Gabriela
- Nguyen-Morel, Marie-Ange
- Busa, Tiffany
- Roubertie, Agathe
- van den Born, Myrthe
- Brischoux-Boucher, Elise
- Koenig, Michel
- Mignot, Cyril
- Kini, Usha
- Philippe, Christophe
2019
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Human genetics, 2021-10, Vol.140 (10), p.1459-1469
- Melo, Uirá Souto
- Piard, Juliette
- Fischer-Zirnsak, Björn
- Klever, Marius-Konstantin
- Schöpflin, Robert
- Mensah, Martin Atta
- Holtgrewe, Manuel
- Arbez-Gindre, Francine
- Martin, Alain
- Guigue, Virginie
- Gaillard, Dominique
- Landais, Emilie
- Roze, Virginie
- Kremer, Valerie
- Ramanah, Rajeev
- Cabrol, Christelle
- Harms, Frederike L.
- Kornak, Uwe
- Spielmann, Malte
- Mundlos, Stefan
- Van Maldergem, Lionel
2021
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American journal of human genetics, 2017-09, Vol.101 (3), p.391-403
- Windpassinger, Christian
- Piard, Juliette
- Bonnard, Carine
- Alfadhel, Majid
- Lim, Shuhui
- Bisteau, Xavier
- Blouin, Stéphane
- Ali, Nur’Ain B.
- Ng, Alvin Yu Jin
- Lu, Hao
- Tohari, Sumanty
- Talib, S. Zakiah A.
- van Hul, Noémi
- Caldez, Matias J.
- Van Maldergem, Lionel
- Yigit, Gökhan
- Kayserili, Hülya
- Youssef, Sameh A.
- Coppola, Vincenzo
- de Bruin, Alain
- Tessarollo, Lino
- Choi, Hyungwon
- Rupp, Verena
- Roetzer, Katharina
- Roschger, Paul
- Klaushofer, Klaus
- Altmüller, Janine
- Roy, Sudipto
- Venkatesh, Byrappa
- Ganger, Rudolf
- Grill, Franz
- Ben Chehida, Farid
- Wollnik, Bernd
- Altunoglu, Umut
- Al Kaissi, Ali
- Reversade, Bruno
- Kaldis, Philipp
2017
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Genetics in medicine, 2020-01, Vol.22 (1), p.124-131
- Meerschaut, Ilse
- De Coninck, Shana
- Steyaert, Wouter
- Barnicoat, Angela
- Bayat, Allan
- Benedicenti, Francesco
- Berland, Siren
- Blair, Edward M
- Breckpot, Jeroen
- de Burca, Anna
- Destrée, Anne
- García-Miñaúr, Sixto
- Green, Andrew J
- Hanna, Bernadette C
- Keymolen, Kathelijn
- Koopmans, Marije
- Lederer, Damien
- Lees, Melissa
- Longman, Cheryl
- Lynch, Sally Ann
- Male, Alison M
- McKenzie, Fiona
- Migeotte, Isabelle
- Mihci, Ercan
- Nur, Banu
- Petit, Florence
- Piard, Juliette
- Plasschaert, Frank S
- Rauch, Anita
- Ribaï, Pascale
- Pacheco, Iratxe Salcedo
- Stanzial, Franco
- Stolte-Dijkstra, Irene
- Valenzuela, Irene
- Varghese, Vinod
- Vasudevan, Pradeep C
- Wakeling, Emma
- Wallgren-Pettersson, Carina
- Coucke, Paul
- De Paepe, Anne
- De Wolf, Daniël
- Symoens, Sofie
- Callewaert, Bert
2020
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Human mutation, 2018-08, Vol.39 (8), p.1076-1080
- Ruaud, Lyse
- Rice, Gillian I.
- Cabrol, Christelle
- Piard, Juliette
- Rodero, Mathieu
- Eyk, Lien
- Boucher‐Brischoux, Elise
- Noordhout, Alain Maertens
- Maré, Ricardo
- Scalais, Emmanuel
- Pauly, Fernand
- Debray, François‐Guillaume
- Dobyns, William
- Uggenti, Carolina
- Park, Ji Woo
- Hur, Sun
- Livingston, John H.
- Crow, Yanick J.
- Maldergem, Lionel
2018
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American journal of medical genetics. Part A, 2014-10, Vol.164A (10), p.2618-2622
2014
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Genetics in medicine, 2019-07, Vol.21 (7), p.1-5
- Piard, Juliette
- Hawkes, Lara
- Milh, Mathieu
- Villard, Laurent
- Borgatti, Renato
- Romaniello, Romina
- Fradin, Melanie
- Capri, Yline
- Héron, Delphine
- Nougues, Marie-Christine
- Nava, Caroline
- Arsene, Oana Tarta
- Shears, Debbie
- Taylor, John
- Pagnamenta, Alistair
- Taylor, Jenny C.
- Sogawa, Yoshimi
- Johnson, Diana
- Firth, Helen
- Vasudevan, Pradeep
- Jones, Gabriela
- Nguyen-Morel, Marie-Ange
- Busa, Tiffany
- Roubertie, Agathe
- van den Born, Myrthe
- Brischoux-Boucher, Elise
- Koenig, Michel
- Mignot, Cyril
- Kini, Usha
- Philippe, Christophe
2019
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Frontiers in pediatrics, 2019-05, Vol.7, p.210
2019
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Annals of clinical and translational neurology, 2017-01, Vol.4 (1), p.4-14
- Van Maldergem, Lionel
- Besse, Arnaud
- De Paepe, Boel
- Blakely, Emma L.
- Appadurai, Vivek
- Humble, Margaret M.
- Piard, Juliette
- Craig, Kate
- He, Langping
- Hella, Pierre
- Debray, François‐Guillaume
- Martin, Jean‐Jacques
- Gaussen, Marion
- Laloux, Patrice
- Stevanin, Giovanni
- Van Coster, Rudy
- Taylor, Robert W.
- Copeland, William C.
- Mormont, Eric
- Bonnen, Penelope E.
2017
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Genetics in medicine, 2024-07, p.101214, Article 101214
2024
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Brain (London, England : 1878), 2023-08, Vol.146 (8), p.3470-3483
- Jacquier, Arnaud
- Theuriet, Julian
- Fontaine, Fanny
- Mosbach, Valentine
- Lacoste, Nicolas
- Ribault, Shams
- Risson, Valérie
- Carras, Julien
- Coudert, Laurent
- Simonet, Thomas
- Latour, Philippe
- Stojkovic, Tanya
- Piard, Juliette
- Cosson, Anne
- Lesca, Gaëtan
- Bouhour, Françoise
- Allouche, Stéphane
- Puccio, Hélène
- Pegat, Antoine
- Schaeffer, Laurent
2023
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Brain (London, England : 1878), 2018-03, Vol.141 (3), p.651-661
2018
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British journal of dermatology (1951), 2024-07, Vol.191 (2), p.303-305
- Kuentz, Paul
- Engel, Camille
- Laeng, Mathieu
- Chevarin, Martin
- Duffourd, Yannis
- Martel, Jéhanne
- Piard, Juliette
- Morice-Picard, Fanny
- Aubert, Helene
- Bessis, Didier
- Guerrot, Anne-Marie
- Maruani, Annabel
- Boccara, Olivia
- Mazereeuw-Hautier, Juliette
- Ott, Hagen
- Phan, Alice
- Puzenat, Eve
- Quelin, Chloe
- Thauvin-Robinet, Christel
- Faivre, Laurence
- Vabres, Pierre
2024
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Clinical genetics, 2024-05, Vol.105 (5), p.581-583
2024
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Neurology, 2022-03, Vol.98 (10), p.e1077
- Ekmen, Asya
- Meneret, Aurelie
- Valabregue, Romain
- Beranger, Benoit
- Worbe, Yulia
- Lamy, Jean-Charles
- Mehdi, Sofien
- Herve, Anais
- Adanyeguh, Isaac
- Temiz, Gizem
- Damier, Philippe
- Gras, Domitille
- Roubertie, Agathe
- Piard, Juliette
- Navarro, Vincent
- Mutez, Eugenie
- Riant, Florence
- Welniarz, Quentin
- Vidailhet, Marie
- Lehericy, Stephane
- Meunier, Sabine
- Gallea, Cecile
- Roze, Emmanuel
2022
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European journal of human genetics : EJHG, 2024-02
- Paulet, Alix
- Bennett-Ness, Cavan
- Ageorges, Faustine
- Trost, Detlef
- Green, Andrew
- Goudie, David
- Jewell, Rosalyn
- Kraatari-Tiri, Minna
- Piard, Juliette
- Coubes, Christine
- Lam, Wayne
- Lynch, Sally Ann
- Groeschel, Samuel
- Ramond, Francis
- Fluss, Joël
- Fagerberg, Christina
- Brasch Andersen, Charlotte
- Varvagiannis, Konstantinos
- Kleefstra, Tjitske
- Gérard, Bénédicte
- Fradin, Mélanie
- Vitobello, Antonio
- Tenconi, Romano
- Denommé-Pichon, Anne-Sophie
- Vincent-Devulder, Aline
- Haack, Tobias
- Marsh, Joseph A
- Laulund, Lone Walentin
- Grimmel, Mona
- Riess, Angelika
- de Boer, Elke
- Padilla-Lopez, Sergio
- Bakhtiari, Somayeh
- Ostendorf, Adam
- Zweier, Christiane
- Smol, Thomas
- Willems, Marjolaine
- Faivre, Laurence
- Scala, Marcello
- Striano, Pasquale
- Bagnasco, Irene
- Koboldt, Daniel
- Iascone, Maria
- Suerink, Manon
- Kruer, Michael C
- Levy, Jonathan
- Verloes, Alain
- Abbott, Catherine M
- Ruaud, Lyse
2024
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The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus
2020
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Human mutation, 2020-02, Vol.41 (2), p.465-475
2020
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Nature communications, 2022-11, Vol.13 (1), p.6570-6570, Article 6570
- Leitão, Elsa
- Schröder, Christopher
- Parenti, Ilaria
- Dalle, Carine
- Rastetter, Agnès
- Kühnel, Theresa
- Kuechler, Alma
- Kaya, Sabine
- Gérard, Bénédicte
- Schaefer, Elise
- Nava, Caroline
- Drouot, Nathalie
- Engel, Camille
- Piard, Juliette
- Duban-Bedu, Bénédicte
- Villard, Laurent
- Stegmann, Alexander P A
- Vanhoutte, Els K
- Verdonschot, Job A J
- Kaiser, Frank J
- Tran Mau-Them, Frédéric
- Scala, Marcello
- Striano, Pasquale
- Frints, Suzanna G M
- Argilli, Emanuela
- Sherr, Elliott H
- Elder, Fikret
- Buratti, Julien
- Keren, Boris
- Mignot, Cyril
- Héron, Delphine
- Mandel, Jean-Louis
- Gecz, Jozef
- Kalscheuer, Vera M
- Horsthemke, Bernhard
- Piton, Amélie
- Depienne, Christel
2022
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Orphanet journal of rare diseases, 2021-12, Vol.16 (1), p.504-504, Article 504
- Billon, Clarisse
- Adham, Salma
- Hernandez Poblete, Natalia
- Legrand, Anne
- Frank, Michael
- Chiche, Laurent
- Zuily, Stephane
- Benistan, Karelle
- Savale, Laurent
- Zaafrane-Khachnaoui, Khaoula
- Brehin, Anne-Claire
- Bal, Laurence
- Busa, Tiffany
- Fradin, Mélanie
- Quelin, Chloé
- Chesneau, Bertrand
- Wahl, Denis
- Fergelot, Patricia
- Goizet, Cyril
- Mirault, Tristan
- Jeunemaitre, Xavier
- Albuisson, Juliette
2021
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Brain (London, England : 1878), 2024-05, Vol.147 (5), p.1837-1855
- Rinaldi, Berardo
- Bayat, Allan
- Zachariassen, Linda G
- Sun, Jia-Hui
- Ge, Yu-Han
- Zhao, Dan
- Bonde, Kristine
- Madsen, Laura H
- Awad, Ilham Abdimunim Ali
- Bagiran, Duygu
- Sbeih, Amal
- Shah, Syeda Maidah
- El-Sayed, Shaymaa
- Lyngby, Signe M
- Pedersen, Miriam G
- Stenum-Berg, Charlotte
- Walker, Louise Claudia
- Krey, Ilona
- Delahaye-Duriez, Andrée
- Emrick, Lisa T
- Sully, Krystal
- Murali, Chaya N
- Burrage, Lindsay C
- Plaud Gonzalez, Julie Ana
- Parnes, Mered
- Friedman, Jennifer
- Isidor, Bertrand
- Lefranc, Jérémie
- Redon, Sylvia
- Heron, Delphine
- Mignot, Cyril
- Keren, Boris
- Fradin, Mélanie
- Dubourg, Christele
- Mercier, Sandra
- Besnard, Thomas
- Cogne, Benjamin
- Deb, Wallid
- Rivier, Clotilde
- Milani, Donatella
- Bedeschi, Maria Francesca
- Di Napoli, Claudia
- Grilli, Federico
- Marchisio, Paola
- Koudijs, Suzanna
- Veenma, Danielle
- Argilli, Emanuela
- Lynch, Sally Ann
- Au, Ping Yee Billie
- Ayala Valenzuela, Fernando Eduardo
- Brown, Carolyn
- Masser-Frye, Diane
- Jones, Marilyn
- Patron Romero, Leslie
- Li, Wenhui Laura
- Thorpe, Erin
- Hecher, Laura
- Johannsen, Jessika
- Denecke, Jonas
- McNiven, Vanda
- Szuto, Anna
- Wakeling, Emma
- Cruz, Vincent
- Sency, Valerie
- Wang, Heng
- Piard, Juliette
- Kortüm, Fanny
- Herget, Theresia
- Bierhals, Tatjana
- Condell, Angelo
- Ben-Zeev, Bruria
- Kaur, Simranpreet
- Christodoulou, John
- Piton, Amelie
- Zweier, Christiane
- Kraus, Cornelia
- Micalizzi, Alessia
- Trivisano, Marina
- Specchio, Nicola
- Lesca, Gaetan
- Møller, Rikke S
- Tümer, Zeynep
- Musgaard, Maria
- Gerard, Benedicte
- Lemke, Johannes R
- Shi, Yun Stone
- Kristensen, Anders S
2024
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