Talarico, Mariagrazia;de Bellescize, Julitta;De Wachter, Matthias;Le Guillou, Xavier;Le Meur, Guylène;Egloff, Matthieu;Isidor, Bertrand;Cogné, Benjamin;Beysen, Diane;Rollier, Paul;Fradin, Melanie;Pasquier, Laurent;Guella, Ilaria;Hickey, Scott E;Benke, Paul J;Shillington, Amelle;Kumps, Candy;Vanakker, Olivier;Gerkes, Erica H;Lakhani, Shenela;Romanova, Irina;Kanivets, Ilya;Brugger, Melanie;Vill, Katharina;Caylor, Raymond C;Skinner, Cindy;Tinker, Rory J;Stödberg, Tommy;Nümann, Astrid;Haack, Tobias B;Deininger, Natalie;Hengel, Holger;Jury, Jeanne;Conrad, Solène;Mercier, Sandra;Yoon, Grace;Tsuboyama, Melissa;Barcia, Giulia;Gitiaux, Cyril;Rio, Marlène;Bevot, Andrea;Redon, Sylvia;Uguen, Kevin;Wonneberger, Antje;Schulz, Alexander;Timmann, Dagmar;Karlowicz, Danielle Hays;Chatron, Nicolas;Carnevale, Amanda;Mahida, Sonal;Õunap, Katrin;Kury, Sébastien;Cabet, Sara;Lesca, Gaetan
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.
Genet Med
2025
27
4

Estévez-Arias, Berta;Matalonga, Leslie;Yubero, Delia;Polavarapu, Kiran;Codina, Anna;Ortez, Carlos;Carrera-García, Laura;Expósito-Escudero, Jesica;Jou, Cristina;Meyer, Stefanie;Kilicarslan, Ozge Aksel;Aleman, Alberto;Thompson, Rachel;Luknárová, Rebeka;Esteve-Codina, Anna;Gut, Marta;Laurie, Steven;Demidov, German;Yépez, Vicente A;Beltran, Sergi;Gagneur, Julien;Topf, Ana;Lochmüller, Hanns;Nascimento, Andres;Hoenicka, Janet;Palau, Francesc;Natera-de Benito, Daniel
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
Eur J Hum Genet
2025
33
2
239-247

Carapito, Raphael;Molitor, Anne;Pavinato, Lisa;Skeyni, Alaa;Lambert, Magalie;Pichot, Angélique;Jiang, Jiuhong;Spinnhirny, Perrine;Zimmermann, Lucie;Boucher, Philippe;Chung, Clara W T;Elserafy, Noha;Blair, Edward M;Li, Dong;Elisabeth, Bhoj;Kotzaeridou, Urania;Karch, Stephanie;Wagner, Matias;Lunsing, Roelineke J;Pfundt, Rolph;Boycott, Kym M;Bruel, Ange-Line;Mau-Them, Frédéric Tran;Moutton, Sébastien;Conti, Valerio;Mei, Davide;Cetica, Valentina;Guerrini, Renzo;Brunet, Theresa;Rump, Patrick;Mussa, Alessandro;Brusco, Alfredo;Lemire, Gabrielle;de Vries, Bert B A;Miao, Zhichao;Isidor, Bertrand;Bahram, Seiamak
RICTOR variants are associated with neurodevelopmental disorders.
Eur J Hum Genet
2025
33
7
966-972

Blackburn, Patrick R;Ebstein, Frédéric;Hsieh, Tzung-Chien;Motta, Marialetizia;Radio, Francesca Clementina;Herkert, Johanna C;Rinne, Tuula;Thiffault, Isabelle;Rapp, Michele;Alders, Mariel;Maas, Saskia;Gerard, Bénédicte;Smol, Thomas;Vincent-Delorme, Catherine;Cogné, Benjamin;Isidor, Bertrand;Vincent, Marie;Bachmann-Gagescu, Ruxandra;Rauch, Anita;Joset, Pascal;Ferrero, Giovanni Battista;Ciolfi, Andrea;Husson, Thomas;Guerrot, Anne-Marie;Bacino, Carlos;Macmurdo, Colleen;Thompson, Stephanie S;Rosenfeld, Jill A;Faivre, Laurence;Mau-Them, Frederic Tran;Deb, Wallid;Vignard, Virginie;Agrawal, Pankaj B;Madden, Jill A;Goldenberg, Alice;Lecoquierre, François;Zech, Michael;Prokisch, Holger;Necpál, Ján;Jech, Robert;Winkelmann, Juliane;Koprušáková, Monika Turčanová;Konstantopoulou, Vassiliki;Younce, John R;Shinawi, Marwan;Mighton, Chloe;Fung, Charlotte;Morel, Chantal F;Lerner-Ellis, Jordan;DiTroia, Stephanie;Barth, Magalie;Bonneau, Dominique;Krapels, Ingrid;Stegmann, Alexander P A;van der Schoot, Vyne;Brunet, Theresa;Bußmann, Cornelia;Mignot, Cyril;Zampino, Giuseppe;Wortmann, Saskia B;Mayr, Johannes A;Feichtinger, René G;Courtin, Thomas;Ravelli, Claudia;Keren, Boris;Ziegler, Alban;Hasadsri, Linda;Pichurin, Pavel N;Klee, Eric W;Grand, Katheryn;Sanchez-Lara, Pedro A;Krüger, Elke;Bézieau, Stéphane;Klinkhammer, Hannah;Krawitz, Peter Michael;Eichler, Evan E;Tartaglia, Marco;Küry, Sébastien;Wang, Tianyun
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
Ann Neurol
2024

Peters, Bianca;Dattner, Tal;Schlieben, Lea D;Sun, Tian;Staufner, Christian;Lenz, Dominic
Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.
J Inherit Metab Dis
2025
48
1

Ferrera, Giulia;Derderian, Kevork;Izzo, Rossella;Gnutti, Barbara;Legati, Andrea;Zorzi, Giovanna;Lamantea, Eleonora;Iuso, Arcangela;Ardissone, Anna
WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report.
Eur J Hum Genet
2025
33
2
248-251

Calakos, Nicole;Zech, Michael
Emerging Molecular-Genetic Families in Dystonia: Endosome-Autophagosome-Lysosome and Integrated Stress Response Pathways.
Mov Disord
2025
40
1
7-21

Indelicato, Elisabetta;Eberl, Anna;Boesch, Sylvia;Lange, Lara M;Klein, Christine;Lohmann, Katja;Zech, Michael
Genome Aggregation Database Version 4-Allele Frequency Changes and Impact on Variant Interpretation in Dystonia.
Mov Disord
2025
40
2
357-362

Stehr, Antonia M;Lenberg, Jerica;Friedman, Jennifer;Dobbelaere, Dries;Imbard, Apolline;Levy, Jonathan;Donoghue, Sarah;Derive, Nicolas;Stoeva, Radka;Gueguen, Paul;Zech, Michael
Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies.
Clin Genet
2025
107
1
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Capitanchik, Charlotte;Wilkins, Oscar G;Wagner, Nils;Gagneur, Julien;Ule, Jernej
From computational models of the splicing code to regulatory mechanisms and therapeutic implications.
Nat Rev Genet
2025
26
3
171-190