Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay

Bron
Brain communications - ISSN 2632-1297-6:4 (2024) p. 1-9
Auteur(s)
    Daniele De Ritis, Laura Ferre, Jonathan De Winter, Clemence Tremblay-Desbiens, Mathieu Blais, Maria Teresa Bassi, Nicolas Dupre, Jonathan Baets, Massimo Filippi, Francesca Maltecca

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Bron
Brain - ISSN 0006-8950-146:12 (2023) p. 4880-4890
Auteur(s)
    Annette Lischka, Katja Eggermann, Christopher J. Record, Maike F. Dohrn, Petra Laššuthová, Florian Kraft, Matthias Begemann, Daniela Dey, Thomas Eggermann, Danique Beijer, Jana Šoukalová, Matilde Laura, Alexander M. Rossor, Radim Mazanec, Jonas Van Lent, Pedro J. Tomaselli, Martin Ungelenk, Karlien Y. Debus, Shawna M.E. Feely, Dieter Gläser, Sujatha Jagadeesh, Madelena Martin, Geeta M. Govindaraj, Pratibha Singhi, Revanth Baineni, Niranjan Biswal, Marisol Ibarra-Ramírez, Maryse Bonduelle, Burkhard Gess, Juan Romero Sánchez, Renu Suthar, Vrajesh Udani, Atchayaram Nalini, Gopikrishnan Unnikrishnan, Wilson Marques Junior, Sandra Mercier, Vincent Procaccio, Céline Bris, Beena Suresh, Vaishnavi Reddy, Mariola Skorupinska, Nathalie Bonello-Palot, Fanny Mochel, Georg Dahl, Karthika Sasidharan, Fiji M. Devassikutty, Vincent Timmerman, Jonathan De Winter, Jonathan Baets, Ingo Kurth

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Bron
Genetics in medicine - ISSN 1098-3600-25:4 (2023) p. 1-15
Auteur(s)
    Anne-Sophie Denomme-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Yannis Duffourd, Kornelia Ellwanger, Chiara Fallerini, Christian Gilissen, Holm Graessner, Tobias B. Haack, Marketa Havlovicova, Alexander Hoischen, Nolwenn Jean-Marcais, Tjitske Kleefstra, Estrella Lopez-Martin, Milan Macek, Maria Antonietta Mencarelli, Sebastien Moutton, Rolph Pfundt, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Hana Safraou, Martin Schwarz, Marco Tartaglia, Christel Thauvin-Robinet, Julien Thevenon, Frederic Tran Mau-Them, Aurelien Trimouille, Pavel Votypka, Bert B.A. de Vries, Vincent Timmerman, Jonathan Baets, Geert de Vries, Jonathan De Winter, Danique Beijer, Peter De Jonghe, Liedewei Van de Vondel, Willem De Ridder, Sarah Weckhuysen, Orphanomix Group