Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR

Source
Genome research - ISSN 1088-9051- (2024) p. 1-8
Author(s)

Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia

Source
The American journal of human genetics - ISSN 0002-9297-111:7 (2024) p. 1316-1329
Author(s)
    Claudia Manzoni, Demis A. Kia, Raffaele Ferrari, Ganna Leonenko, Beatrice Costa, Valentina Saba, Edwin Jabbari, Manuela M. X. Tan, Diego Albani, Victoria Alvarez, Ignacio Alvarez, Ole A. Andreassen, Antonella Angiolillo, Andrea Arighi, Matt Baker, Luisa Benussi, Valentina Bessi, Giuliano Binetti, Daniel J. Blackburn, Merce Boada, Bradley F. Boeve, Sergi Borrego-Ecija, Barbara Borroni, Geir Brathen, William S. Brooks, Amalia C. Bruni, Paola Caroppo, Sara Bandres-Ciga, Jordi Clarimon, Rosanna Colao, Carlos Cruchaga, Adrian Danek, Sterre C. M. de Boer, Itziar de Rojas, Alfonso di Costanzo, Dennis W. Dickson, Janine Diehl-Schmid, Carol Dobson-Stone, Oriol Dols-Icardo, Aldo Donizetti, Elise Dopper, Elisabetta Durante, Camilla Ferrari, Gianluigi Forloni, Francesca Frangipane, Laura Fratiglioni, Rosa Rademakers, Christine Van Broeckhoven, Julie van der Zee, Valentina Escott-Price

Prognostic clinical and biological markers for amyotrophic lateral sclerosis disease progression : validation and implications for clinical trial design and analysis

Source
EBioMedicine - ISSN 2352-3964-108 (2024) p. 1-15
Author(s)
    Michael Benatar, Eric A. Macklin, Andrea Malaspina, Mary-Louise Rogers, Eran Hornstein, Vittoria Lombardi, Danielle Renfrey, Stephanie Shepheard, Iddo Magen, Yahel Cohen, Volkan Granit, Jeffrey M. Statland, Jeannine M. Heckmann, Rosa Rademakers, Caroline A. McHutchison, Leonard Petrucelli, Corey T. McMillan, Joanne Wuu

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

Source
medRxiv- (2024) p. 1-51
Author(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 Murray, Júlia Faura Llorens, Stephen J. Haggarty, Jeroen G.J. van Rooij, Merel O. Mol, Ging-Yuek R. Hsiung, Caroline Graff, Linn Öijerstedt, 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 Domoty-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

Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy

Source
Molecular neurodegeneration - ISSN 1750-1326-19:1 (2024) p. 1-16
Author(s)
    Hui Wang, Timothy S. Chang, Beth A. Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul De Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C. Van Swieten, Elise Dopper, Bernardino F. Ghetti, Kathy L. Newell, Claire Troakes, Justo G. de Yebenes, Alberto Rabano-Gutierrez, Tina Meller, Wolfgang H. Oertel, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Sigrun Roeber, Ulrich Mueller, Franziska Hopfner, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G. Beach, Geidy E. Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A. Ross, Douglas Galasko, Adam L. Boxer, Bruce L. Miller, Willian W. Seeley, Vivanna M. Van Deerlin, Edward B. Lee, Charles L. White III, Huw Morris, Rohan de Silva, John F. Crary, Wan-Ping Lee