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2022
Pavinato, Lisa 
ORCID: 0000-0002-7630-8365, Villamor-Paya, Marina ORCID: 0000-0002-7288-4197, Sanchiz-Calvo, Maria, Andreoli, Cristina ORCID: 0000-0003-3724-0668, Gay, Marina ORCID: 0000-0002-8827-7092, Vilaseca, Marta ORCID: 0000-0002-1666-1300, Arauz-Garofalo, Gianluca ORCID: 0000-0001-5166-6054, Ciolfi, Andrea ORCID: 0000-0002-6191-0978, Bruselles, Alessandro ORCID: 0000-0002-1556-4998, Pippucci, Tommaso, Prota, Valentina ORCID: 0000-0003-2336-9954, Carli, Diana ORCID: 0000-0001-5690-6504, Giorgio, Elisa ORCID: 0000-0003-4076-4649, Radio, Francesca Clementina, Antona, Vincenzo, Giuffre, Mario, Ranguin, Kara, Colson, Cindy, De Rubeis, Silvia, Dimartino, Paola ORCID: 0000-0002-6521-1082, Buxbaum, Joseph D., Ferrero, Giovanni Battista, Tartaglia, Marco ORCID: 0000-0001-7736-9672, Martinelli, Simone, Stracker, Travis H. and Brusco, Alfredo ORCID: 0000-0002-8318-7231
(2022).
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
J. Med. Genet., 59 (2).
S. 170 - 180.
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-6244
2021
Pavinato, Lisa ORCID: 0000-0002-7630-8365, Trajkova, Slavica ORCID: 0000-0002-0178-5327, Grosso, Enrico, Giorgio, Elisa ORCID: 0000-0003-4076-4649, Bruselles, Alessandro ORCID: 0000-0002-1556-4998, Radio, Francesca Clementina ORCID: 0000-0003-1993-8018, Pippucci, Tommaso ORCID: 0000-0001-7737-7963, Dimartino, Paola, Tartaglia, Marco ORCID: 0000-0001-7736-9672, Petlichkovski, Aleksandar ORCID: 0000-0002-1956-4063, De Rubeis, Silvia, Buxbaum, Joseph, Ferrero, Giovanni Battista, Keller, Roberto ORCID: 0000-0002-6873-9827 and Brusco, Alfredo
(2021).
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
Am. J. Med. Genet. A, 185 (6).
S. 1712 - 1721.
HOBOKEN:
WILEY.
ISSN 1552-4833
2019
Florian, Rahel T., Kraft, Florian ORCID: 0000-0002-5324-9155, Leitao, Elsa ORCID: 0000-0001-5051-9714, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi ORCID: 0000-0003-3036-9266, van Rootselaar, Anne-Fleur ORCID: 0000-0002-8376-9098, Buratti, Julien ORCID: 0000-0002-0901-0905, Kuehnel, Theresa, Schroeder, Christopher, Giesselmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, lamiral, AnaiDe, Keren, Boris, Nava, Caroline ORCID: 0000-0003-1272-0518, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-Francois, Delpu, Yannick, Avarello, Mario D. M., Vijfhuizen, Lisanne S., Rudolf, Gabrielle ORCID: 0000-0002-2050-3911, Hirsch, Edouard, Kroes, Thessa ORCID: 0000-0003-1416-5407, Reif, Philipp S., Rosenow, Felix, Ganos, Christos ORCID: 0000-0001-8077-8530, Vidailhet, Marie, Thivard, Lionel, Mathieu, Alexandre, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpass, Laura, Horsthemke, Bernhard, Berkovic, Samuel F., Bisulli, Francesca, Brancati, Francesco, Canafoglia, Laura, Casari, Giorgio, Guerrini, Renzo, Ishiura, Hiroyuki, Licchetta, Laura, Mei, Davide, Pippucci, Tommaso, Sadleir, Lynette, Scheffer, Ingrid E., Striano, Pasquale ORCID: 0000-0002-6065-1476, Tinuper, Paolo, Tsuji, Shoji, Zara, Federico, LeGuern, Eric, Klein, Karl Martin ORCID: 0000-0002-6654-1665, Labauge, Pierre, Bennett, Mark F., Bahlo, Melanie ORCID: 0000-0001-5132-0774, Gecz, Jozef ORCID: 0000-0002-7884-6861, Corbett, Mark A., Tijssen, Marina A. J., van den Maagdenberg, Arn M. J. M. and Depienne, Christel
(2019).
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Nat. Commun., 10.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2041-1723