Machine learning in Alzheimer's disease genetics

Bron
Nature communications - ISSN 2041-1723-16:1 (2025) p. 1-16
Auteur(s)
    Matthew Bracher-Smith, Federico Melograna, Brittany Ulm, Celine Bellenguez, Benjamin Grenier-Boley, Diane Duroux, Alejo J. Nevado, Peter Holmans, Betty M. Tijms, Marc Hulsman, Itziar de Rojas, Rafael Campos-Martin, Sven van der Lee, Atahualpa Castillo, Fahri Küçükali, Oliver Peters, Anja Schneider, Martin Dichgans, Dan Rujescu, Norbert Scherbaum, Juergen Deckert, Steffi Riedel-Heller, Lucrezia Hausner, Laura Molina-Porcel, Emrah Duzel, Timo Grimmer, Jens Wiltfang, Stefanie Heilmann-Heimbach, Susanne Moebus, Thomas Tegos, Nikolaos Scarmeas, Oriol Dols-Icardo, Fermin Moreno, Jordi Perez-Tur, Maria J. Bullido, Pau Pastor, Raquel Sanchez-Valle, Victoria Alvarez, Merce Boada, Pablo Garcia-Gonzalez, Raquel Puerta, Pablo Mir, Luis M. Real, Gerard Pinol-Ripoll, Jose Maria Garcia-Alberca, Kristel Sleegers, Sebastiaan Engelborghs, Christine Van Broeckhoven, Jasper Van Dongen, Mohammad Arfan Ikram

Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes

Bron
Brain - ISSN 0006-8950-148:9 (2025) p. 3350-3363
Auteur(s)
    Fahri Küçükali, Elizabeth Hill, Tijs Watzeels, Holger Hummerich, Tracy Campbell, Lee Darwent, Steven Collins, Christiane Stehmann, Gabor G. Kovacs, Michael D. Geschwind, Karl Frontzek, Herbert Budka, Ellen Gelpi, Adriano Aguzzi, Sven J. van der Lee, Cornelia M. van Duijn, Pawel P. Liberski, Miguel Calero, Pascual Sanchez-Juan, Elodie Bouaziz-Amar, Jean-Louis Laplanche, Stephane Haik, Jean-Phillipe Brandel, Angela Mammana, Sabina Capellari, Anna Poleggi, Anna Ladogana, Dorina Tiple, Saima Zafar, Stephanie Booth, Gerard H. Jansen, Ausrine Areskeviciute, Eva Lobner Lund, Katie Glisic, Piero Parchi, Peter Hermann, Inga Zerr, Jiri Safar, Pierluigi Gambetti, Brian S. Appleby, John Collinge, Kristel Sleegers, Simon Mead

Analysis of the splicing landscape of the frontal cortex in FTLD-TDP reveals subtype specific patterns and cryptic splicing

Bron
Acta neuropathologica - ISSN 0001-6322-149:1 (2025) p. 1-20
Auteur(s)

Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing

Bron
Nature communications - ISSN 2041-1723-16:1 (2025) p. 1-19
Auteur(s)
    Cyril Pottier, Fahri Küçükali, Matt Baker, Anthony Batzler, Gregory D. Jenkins, Marka van Blitterswijk, Cristina Vicente, Wouter De Coster, Sarah Wynants, Pieter Van de Walle, Owen A. Ross, Melissa E. Murray, Júlia Faura Llorens, Stephen J. Haggarty, Jeroen GJ. van Rooij, Merel O. Mol, Ging-Yuek R. Hsiung, Caroline Graff, Linn Oeijerstedt, Manuela Neumann, Yan Asmann, Shannon K. Mcdonnell, Saurabh Baheti, Keith A. Josephs, Jennifer L. Whitwell, Kevin F. Bieniek, Leah Forsberg, Hilary Heuer, Argentina Lario Lago, Ethan G. Geier, Jennifer S. Yokoyama, Alexis P. Oddi, Margaret Flanagan, Qinwen Mao, John R. Hodges, John B. Kwok, Kimiko Domoto-Reilly, Matthis Synofzik, Carlo Wilke, Chiadi Onyike, Bradford C. Dickerson, Bret M. Evers, Brittany N. Dugger, David G. Munoz, Julia Keith, Lorne Zinman, Ekaterina Rogaeva, Eunran Suh, Kristel Sleegers, Rosa Rademakers