Bradley Smith
Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data.
Al Khleifat A, Iacoangeli A, Jones A, Van Vugt J, Moisse M, Shatunov A, Zwamborn R, van der Spek R, Cooper-Knock J, Topp S, van Rheenen W, Kenna B, van Eijk K, Kenna K, Byrne R, López V, Opie-Martin S, Vural A, Campos Y, Weber M, Smith B, Fogh I, Silani V, Morrison K, Dobson R, van Es M, McLaughlin R, Vourc'h P, Chio A, Corcia P, de Carvalho M, Gotkine M, Panades M, Mora J, Shaw P, Landers J, Glass J, Shaw C, Başak N, Hardiman O, Robberecht W, Van Damme P, van den Berg L, Veldink J, Al-Chalabi A. Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data. Front Cell Neurosci 2022; 16:1050596.
15.12.2022Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data.
15.12.2022Front Cell Neurosci 2022; 16:1050596
Al Khleifat Ahmad, Iacoangeli Alfredo, Jones Ashley R, Van Vugt Joke J F A, Moisse Matthieu, Shatunov Aleksey, Zwamborn Ramona A J, van der Spek Rick A A, Cooper-Knock Johnathan, Topp Simon, van Rheenen Wouter, Kenna Brendan, van Eijk Kristel R, Kenna Kevin, Byrne Ross P, López Victoria, Opie-Martin Sarah, Vural Atay, Campos Yolanda, Weber Markus, Smith Bradley, Fogh Isabella, Silani Vincenzo, Morrison Karen E, Dobson Richard, van Es Michael A, McLaughlin Russell L, Vourc'h Patrick, Chio Adriano, Corcia Philippe, de Carvalho Mamede, Gotkine Marc, Panades Monica Povedano, Mora Jesus S, Shaw Pamela J, Landers John E, Glass Jonathan D, Shaw Christopher E, Başak Nazli, Hardiman Orla, Robberecht Wim, Van Damme Philip, van den Berg Leonard H, Veldink Jan H, Al-Chalabi Ammar
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis.
Al Khleifat A, Iacoangeli A, Van Vugt J, Bowles H, Moisse M, Zwamborn R, van der Spek R, Shatunov A, Cooper-Knock J, Topp S, Byrne R, Gellera C, López V, Jones A, Opie-Martin S, Vural A, Campos Y, van Rheenen W, Kenna B, van Eijk K, Kenna K, Weber M, Smith B, Fogh I, Silani V, Morrison K, Dobson R, van Es M, McLaughlin R, Vourc'h P, Chio A, Corcia P, de Carvalho M, Gotkine M, Panadés M, Mora J, Shaw P, Landers J, Glass J, Shaw C, Başak N, Hardiman O, Robberecht W, Van Damme P, van den Berg L, Veldink J, Al-Chalabi A. Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis. NPJ Genom Med 2022; 7:8.
28.01.2022Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis.
28.01.2022NPJ Genom Med 2022; 7:8
Al Khleifat Ahmad, Iacoangeli Alfredo, Van Vugt Joke J F A, Bowles Harry, Moisse Matthieu, Zwamborn Ramona A J, van der Spek Rick A A, Shatunov Aleksey, Cooper-Knock Johnathan, Topp Simon, Byrne Ross P, Gellera Cinzia, López Victoria, Jones Ashley R, Opie-Martin Sarah, Vural Atay, Campos Yolanda, van Rheenen Wouter, Kenna Brendan, van Eijk Kristel R, Kenna Kevin, Weber Markus, Smith Bradley, Fogh Isabella, Silani Vincenzo, Morrison Karen E, Dobson Richard, van Es Michael A, McLaughlin Russell L, Vourc'h Patrick, Chio Adriano, Corcia Philippe, de Carvalho Mamede, Gotkine Marc, Panadés Monica P, Mora Jesus S, Shaw Pamela J, Landers John E, Glass Jonathan D, Shaw Christopher E, Başak Nazli, Hardiman Orla, Robberecht Wim, Van Damme Philip, van den Berg Leonard H, Veldink Jan H, Al-Chalabi Ammar
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
Kubisch C, de Carvalho M, Lloyd-Jani A, Konno T, DeJesus-Hernandez M, Angerbauer S, Daoud H, Just W, Tradowsky D, Mouzat K, Landers J, Veldink J, Andersen P, Rademakers R, Van Broeckhoven C, van den Berg L, Rouleau G, Shaw C, Gitler A, Silani V, Nordin A, Calini D, Birve A, Onodera O, Neitzel B, Camu W, Lumbroso S, Leblond C, Van den Broeck M, van Blitterswijk M, Volk A, van Rheenen W, Pinto S, Weber M, Alstermark H, van der Zee J, Ratti A, Chesi A, Keagle P, Talbot K, Proven M, Smith B, Akimoto C. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. J Med Genet 2014; 51:419-24.
04.04.2014A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
04.04.2014J Med Genet 2014; 51:419-24
Kubisch Christian, de Carvalho Mamede, Lloyd-Jani Anjali, Konno Takuya, DeJesus-Hernandez Mariely, Angerbauer Sabrina, Daoud Hussein, Just Walter, Tradowsky Daniela C, Mouzat Kevin, Landers John E, Veldink Jan H, Andersen Peter M, Rademakers Rosa, Van Broeckhoven Christine, van den Berg Leonard H, Rouleau Guy A, Shaw Christopher E, Gitler Aaron D, Silani Vincenzo, Nordin Angelica, Calini Daniela, Birve Anna, Onodera Osamu, Neitzel Birgit, Camu William, Lumbroso Serge, Leblond Claire S, Van den Broeck Marleen, van Blitterswijk Marka, Volk Alexander E, van Rheenen Wouter, Pinto Susana, Weber Markus, Alstermark Helena, van der Zee Julie, Ratti Antonia, Chesi Alessandra, Keagle Pamela, Talbot Kevin, Proven Melanie, Smith Bradley, Akimoto Chizuru