BetterScholar BetterScholar
7
Role
Title
Level Year L/R
🦁 SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation
22 auth. J. de Sainte Agathe, M. Filser, B. Isidor, T. Besnard, Paul Gueguen, A. Perrin, C. Van Goethem, Camille Verebi, Marion Masingue, J. Rendu, ... M. Cossée, A. Bergougnoux, L. Frobert, J. Buratti, É. Lejeune, Éric Le Guern, F. Pasquier, F. Clot, V. Kalatzis, A. Roux, B. Cogné, D. Baux
6 2023
6
🦁
🐜 ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
40 auth. A. Vitobello, Benoît Mazel, V. Lelianova, Alice Zangrandi, Evelina Petitto, J. Suckling, V. Salpietro, R. Meyer, M. Elbracht, I. Kurth, Thomas Eggermann, Ouafa Benlaouer, G. Lall, A. Tonevitsky, D. Scott, ... Katie M. Chan, J. Rosenfeld, S. Nambot, H. Safraou, A. Bruel, A. Denommé-Pichon, F. Tran Mau-Them, C. Philippe, Y. Duffourd, Hui Guo, A. Petersen, L. Granger, Amy Crunk, A. Bayat, P. Striano, F. Zara, Marcello Scala, Q. Thomas, A. Delahaye, J. de Sainte Agathe, J. Buratti, S. Kozlov, L. Faivre, C. Thauvin-Robinet, Y. Ushkaryov
4 2022
4
🐜
🐜 Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement
29 auth. M. Zech, K. Kumar, Sophie Reining, J. Reunert, M. Tchan, L. Riley, A. Drew, R. Adam, Riccardo Berutti, S. Biskup, N. Derive, S. Bakhtiari, S. Jin, M. Kruer, T. Bardakjian, ... P. Gonzalez-Alegre, Ignacio J Keller Sarmiento, N. Mencacci, S. Lubbe, M. Kurian, F. Clot, A. Méneret, J. de Sainte Agathe, V. Fung, M. Vidailhet, M. Baumann, T. Marquardt, J. Winkelmann, S. Boesch
4 2021
4
🐜
🐜 Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes
15 auth. Jean-Loup Méreaux, C. Davoine, Marie Coutelier, L. Guillot-nöel, A. Castrioto, P. Charles, Giulia Coarelli, C. Ewenczyk, S. Klebe, Anna Heinzmann, ... A. Méneret, Anne-Laure Fauret-Amsellem, J. de Sainte Agathe, A. Brice, A. Durr
3 2023
3
🐜
🦁 RNF170‐Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation
11 auth. J. de Sainte Agathe, S. Mercier, J. Mahé, Y. Péréon, J. Buratti, Laurène Tissier, ... Bophara Kol, S. A. Said, E. Leguern, G. Banneau, G. Stevanin
3 2020
3
🦁
🐜 Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
303 auth. B. Yaldiz, Erdi Kucuk, Juliet E. Hampstead, T. Hofste, R. Pfundt, Jordi Corominas Galbany, T. Rinne, H. Yntema, A. Hoischen, M. Nelen, C. Gilissen, O. Riess, T. Haack, H. Graessner, B. Zurek, ... Kornelia Ellwanger, S. Ossowski, German Demidov, M. Sturm, Julia M. Schulze-Hentrich, R. Schüle, Jishu Xu, C. Kessler, Melanie Wayand, M. Synofzik, C. Wilke, Andreas Traschütz, L. Schöls, H. Hengel, H. Lerche, J. Kegele, P. Heutink, Han Brunner, H. Scheffer, N. Hoogerbrugge, A. Hoischen, P. Hoen, L. Vissers, C. Gilissen, W. Steyaert, K. Šablauskas, R. D. de Voer, E. Kamsteeg, B. P. van de Warrenburg, N. V. van Os, Iris B A W Te Paske, Erik Janssen, E. de Boer, M. Steehouwer, B. Yaldiz, T. Kleefstra, A. Brookes, C. Veal, Spencer Gibson, Vatsalya Maddi, Mehdi Mehtarizadeh, U. Riaz, Greg Warren, Farid Yavari Dizjikan, Tom Shorter, A. Töpf, Volker Straub, C. Bettolo, J. Manera, S. Hambleton, Karin R. Engelhardt, J. Clayton-Smith, S. Banka, Elizabeth Alexander, A. Jackson, L. Faivre, C. Thauvin, A. Vitobello, A. Denommé-Pichon, Y. Duffourd, A. Bruel, C. Peyron, A. Pélissier, S. Beltrán, Ivo G. Gut, S. Laurie, D. Piscia, L. Matalonga, Anastasios Papakonstantinou, Gemma Bullich, A. Corvó, Marcos Fernández-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, H. Lochmüller, Gulcin Gumus, Virginie Bros-Facer, A. Rath, M. Hanauer, D. Lagorce, Oscar Hongnat, Maroua Chahdil, Emeline Lebreton, G. Stevanin, A. Durr, C. Davoine, Lena Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, T. Evangelista, V. Allamand, I. Nelson, R. Yaou, C. Métay, B. Eymard, Enzo Cohen, A. Atalaia, T. Stojkovic, M. Macek, M. Turnovec, D. Thomasová, Radka Pourová Kremliková, V. Franková, M. Havlovicová, P. Lišková, P. Doležalová, Helen E. Parkinson, Thomas Keane, M. Freeberg, Coline Thomas, Dylan Spalding, P. Robinson, D. Danis, G. Robert, Alessia Costa, C. Patch, Mike Hanna, H. Houlden, M. Reilly, J. Vandrovcova, S. Efthymiou, hebatollah. morsy, E. Calì, F. Magrinelli, S. Sisodiya, J. Rohrer, Francesco Muntoni, I. Zaharieva, A. Sarkozy, Vincent Timmerman, J. Baets, Geert de Vries, Jonathan De Winter, Danique Beijer, P. de Jonghe, Liedewei Van de Vondel, W. De Ridder, S. Weckhuysen, V. Nigro, M. Mutarelli, M. Morleo, M. Pinelli, Alessandra Varavallo, S. Banfi, A. Torella, F. Musacchia, G. Piluso, A. Ferlini, R. Selvatici, F. Gualandi, S. Bigoni, Rachel Rossi, M. Neri, S. Aretz, I. Spier, Anna K. Sommer, S. Peters, Carla Oliveira, J. G. Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, I. Gullo, Susana Fernandes, L. Garrido, P. Ferreira, F. Carneiro, M. Swertz, L. Johansson, Joeri Van der Velde, Gerben van der Vries, Pieter B. T. Neerincx, David Ruvolo, K. Abbott, W. S. Frederikse, Eveline Zonneveld-Huijssoon, Dieuwke Roelofs-Prins, M. V. van Gijn, Sebastian Köhler, A. Metcalfe, A. Verloes, S. Drunat, D. Heron, C. Mignot, B. Keren, J. de Sainte Agathe, C. Rooryck, D. Lacombe, A. Trimouille, M. P. de la Paz, Eva Bermejo Sánchez, E. Martín, B. M. Delgado, F. J. A. G. de la Rosa, A. Ciolfi, B. Dallapiccola, S. Pizzi, F. C. Radio, M. Tartaglia, A. Renieri, S. Furini, C. Fallerini, Elisa Benetti, Peter Balicza, M. Molnár, A. Maver, B. Peterlin, A. Münchau, Katja Lohmann, Rebecca Herzog, Martje G. Pauly, A. Macaya, Ana Cazurro-Gutiérrez, B. Pérez-Dueñas, F. Munell, Clara Franco Jarava, Laura Batlle Masó, A. Marcé-Grau, R. Colobran, A. N. Osorio, Daniel Natera de Benito, R. Thompson, K. Polavarapu, B. Grimbacher, D. Beeson, J. Cossins, P. Hackman, M. Johari, M. Savarese, B. Udd, R. Horvath, P. Chinnery, T. Ratnaike, Fei Gao, K. Schon, G. Capellá, Laura Valle, E. Holinski-Feder, A. Laner, V. Steinke-Lange, E. Schröck, A. Rump, A. Başak, D. Hemelsoet, B. Dermaut, Nika Schuermans, B. Poppe, H. Verdin, D. Mei, A. Vetro, S. Balestrini, R. Guerrini, K. Claeys, G. Santen, E. Bijlsma, M. Hoffer, C. Ruivenkamp, K. Boztug, M. Haimel, I. Maystadt, I. Cordts, M. Deschauer, I. Zaganas, Evgenia Kokosali, Mathioudakis Lambros, A. Evangeliou, M. Spilioti, E. Kapaki, Maria Bourbouli, P. Striano, F. Zara, A. Riva, M. Iacomino, P. Uva, Marcello Scala, P. Scudieri, M. Cilio, Evelina Carpancea, C. Depondt, D. Lederer, Y. Sznajer, Sarah Duerinckx, Sandrine Mary, C. Depienne, Andreas Roos, P. May
3 2023
3
🐜
🐢 Loss of function of ADNP by an intragenic inversion
8 auth. Mathieu Georget, É. Lejeune, J. Buratti, Euphrasie Servant, E. le Guern, D. Heron, ... B. Keren, J. de Sainte Agathe
2 2023
2
🐢