Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis

Paul J. Hop, Maarten Kooyman, Brendan J. Kenna, Ramona A. J. Zwamborn, Kristel R. van Eijk, Yan Wang, Charlotte H. van Dijk, Erwin Bekema, Wouter van Rheenen, Paul Beele, Joke J. F. A. van Vugt, Unknown, Philip Van Damme, Leonard H. van den Berg, Mamede de Carvalho, Unknown, Unknown, Bradley N. Smith, Unknown, Ahmad Al Khleifat, Alfredo Iacoangeli, Johnathan Cooper-Knock, Bradley N. Smith, Simon Topp, Anneke J. van der Kooi, Vera Fominykh, Vivian Drory, Yossef Lerner, Yehuda Shovman, Dominic B. Rowe, Kelly L. Williams, Russell L. McLaughlin, Jessica Hurt, Yunfeng Huang, Chia-Yen Chen, Ellen Tsai, Heiko Runz, Eleonora Aronica, Ewout J. N. Groen, Michael A. van Es, R. Jeroen Pasterkamp, Sali M. K. Farhan, Fleur C. Garton, Allan F. McRae, Pamela A. McCombe, Robert D. Henderson, Dongsheng Fan, Lenka Šlachtová, Helle Høyer, Agnes L. Nishimura, Ruben J. Cauchi, Lev Brylev, Boris Rogelj, Blaž Koritnik, Janez Zidar, Teresa Salas, Jesus S. Mora Pardina, Marc Gotkine, Monica Povedano, Philippe Corcia, Patrick Vourc’h, Philippe Couratier, Markus Weber, Matthew C. Kiernan, Roger Pamphlett, Ian P. Blair, Mamede de Carvalho, Nazli A. Başak, Caroline Ingre, Peter M. Andersen, Lorne Zinman, Ekaterina Rogaeva, Ian R. MacKenzie, Nicolas Dupre, Guy A. Rouleau, Bryan J. Traynor, Nicola Ticozzi, Adriano Chiò, Vincenzo Silani, Orla Hardiman, Hemali Phatnani, Matthew B. Harms, Clifton L. Dalgard, Jonathan D. Glass, John E. Landers, Philip Van Damme, Karen E. Morrison, Pamela J. Shaw, Chris E. Shaw, Ammar Al-Chalabi, Leonard H. van den Berg, Kevin P. Kenna, Jan H. Veldink

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DOI
10.1038/s41588-026-02535-9
Published
2026-03-31
Container
Nature Genetics
Publisher
Springer Science and Business Media LLC
Open access
unknown

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BibTeX

@article{allodium:10.1038/s41588-026-02535-9,
  title = {Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis},
  author = {Paul J. Hop and Maarten Kooyman and Brendan J. Kenna and Ramona A. J. Zwamborn and Kristel R. van Eijk and Yan Wang and Charlotte H. van Dijk and Erwin Bekema and Wouter van Rheenen and Paul Beele and Joke J. F. A. van Vugt and Unknown and Philip Van Damme and Leonard H. van den Berg and Mamede de Carvalho and Unknown and Unknown and Bradley N. Smith and Unknown and Ahmad Al Khleifat and Alfredo Iacoangeli and Johnathan Cooper-Knock and Bradley N. Smith and Simon Topp and Anneke J. van der Kooi and Vera Fominykh and Vivian Drory and Yossef Lerner and Yehuda Shovman and Dominic B. Rowe and Kelly L. Williams and Russell L. McLaughlin and Jessica Hurt and Yunfeng Huang and Chia-Yen Chen and Ellen Tsai and Heiko Runz and Eleonora Aronica and Ewout J. N. Groen and Michael A. van Es and R. Jeroen Pasterkamp and Sali M. K. Farhan and Fleur C. Garton and Allan F. McRae and Pamela A. McCombe and Robert D. Henderson and Dongsheng Fan and Lenka Šlachtová and Helle Høyer and Agnes L. Nishimura and Ruben J. Cauchi and Lev Brylev and Boris Rogelj and Blaž Koritnik and Janez Zidar and Teresa Salas and Jesus S. Mora Pardina and Marc Gotkine and Monica Povedano and Philippe Corcia and Patrick Vourc’h and Philippe Couratier and Markus Weber and Matthew C. Kiernan and Roger Pamphlett and Ian P. Blair and Mamede de Carvalho and Nazli A. Başak and Caroline Ingre and Peter M. Andersen and Lorne Zinman and Ekaterina Rogaeva and Ian R. MacKenzie and Nicolas Dupre and Guy A. Rouleau and Bryan J. Traynor and Nicola Ticozzi and Adriano Chiò and Vincenzo Silani and Orla Hardiman and Hemali Phatnani and Matthew B. Harms and Clifton L. Dalgard and Jonathan D. Glass and John E. Landers and Philip Van Damme and Karen E. Morrison and Pamela J. Shaw and Chris E. Shaw and Ammar Al-Chalabi and Leonard H. van den Berg and Kevin P. Kenna and Jan H. Veldink},
  year = {2026},
  journal = {Nature Genetics},
  doi = {10.1038/s41588-026-02535-9},
  url = {https://doi.org/10.1038/s41588-026-02535-9}
}

RIS

TY  - JOUR
TI  - Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis
AU  - Paul J. Hop
AU  - Maarten Kooyman
AU  - Brendan J. Kenna
AU  - Ramona A. J. Zwamborn
AU  - Kristel R. van Eijk
AU  - Yan Wang
AU  - Charlotte H. van Dijk
AU  - Erwin Bekema
AU  - Wouter van Rheenen
AU  - Paul Beele
AU  - Joke J. F. A. van Vugt
AU  - Unknown
AU  - Philip Van Damme
AU  - Leonard H. van den Berg
AU  - Mamede de Carvalho
AU  - Unknown
AU  - Unknown
AU  - Bradley N. Smith
AU  - Unknown
AU  - Ahmad Al Khleifat
AU  - Alfredo Iacoangeli
AU  - Johnathan Cooper-Knock
AU  - Bradley N. Smith
AU  - Simon Topp
AU  - Anneke J. van der Kooi
AU  - Vera Fominykh
AU  - Vivian Drory
AU  - Yossef Lerner
AU  - Yehuda Shovman
AU  - Dominic B. Rowe
AU  - Kelly L. Williams
AU  - Russell L. McLaughlin
AU  - Jessica Hurt
AU  - Yunfeng Huang
AU  - Chia-Yen Chen
AU  - Ellen Tsai
AU  - Heiko Runz
AU  - Eleonora Aronica
AU  - Ewout J. N. Groen
AU  - Michael A. van Es
AU  - R. Jeroen Pasterkamp
AU  - Sali M. K. Farhan
AU  - Fleur C. Garton
AU  - Allan F. McRae
AU  - Pamela A. McCombe
AU  - Robert D. Henderson
AU  - Dongsheng Fan
AU  - Lenka Šlachtová
AU  - Helle Høyer
AU  - Agnes L. Nishimura
AU  - Ruben J. Cauchi
AU  - Lev Brylev
AU  - Boris Rogelj
AU  - Blaž Koritnik
AU  - Janez Zidar
AU  - Teresa Salas
AU  - Jesus S. Mora Pardina
AU  - Marc Gotkine
AU  - Monica Povedano
AU  - Philippe Corcia
AU  - Patrick Vourc’h
AU  - Philippe Couratier
AU  - Markus Weber
AU  - Matthew C. Kiernan
AU  - Roger Pamphlett
AU  - Ian P. Blair
AU  - Mamede de Carvalho
AU  - Nazli A. Başak
AU  - Caroline Ingre
AU  - Peter M. Andersen
AU  - Lorne Zinman
AU  - Ekaterina Rogaeva
AU  - Ian R. MacKenzie
AU  - Nicolas Dupre
AU  - Guy A. Rouleau
AU  - Bryan J. Traynor
AU  - Nicola Ticozzi
AU  - Adriano Chiò
AU  - Vincenzo Silani
AU  - Orla Hardiman
AU  - Hemali Phatnani
AU  - Matthew B. Harms
AU  - Clifton L. Dalgard
AU  - Jonathan D. Glass
AU  - John E. Landers
AU  - Philip Van Damme
AU  - Karen E. Morrison
AU  - Pamela J. Shaw
AU  - Chris E. Shaw
AU  - Ammar Al-Chalabi
AU  - Leonard H. van den Berg
AU  - Kevin P. Kenna
AU  - Jan H. Veldink
PY  - 2026
JO  - Nature Genetics
DO  - 10.1038/s41588-026-02535-9
UR  - https://doi.org/10.1038/s41588-026-02535-9
ER  - 

APA

Hop, P. J., Kooyman, M., Kenna, B. J., Zwamborn, R. A. J., Eijk, K. R. V., Wang, Y., Dijk, C. H. V., Bekema, E., Rheenen, W. V., Beele, P., Vugt, J. J. F. A. V., Unknown, Damme, P. V., Berg, L. H. V. D., Carvalho, M. D., Unknown, Unknown, Smith, B. N., Unknown, Khleifat, A. A., Iacoangeli, A., Cooper-Knock, J., Smith, B. N., Topp, S., Kooi, A. J. V. D., Fominykh, V., Drory, V., Lerner, Y., Shovman, Y., Rowe, D. B., Williams, K. L., McLaughlin, R. L., Hurt, J., Huang, Y., Chen, C., Tsai, E., Runz, H., Aronica, E., Groen, E. J. N., Es, M. A. V., Pasterkamp, R. J., Farhan, S. M. K., Garton, F. C., McRae, A. F., McCombe, P. A., Henderson, R. D., Fan, D., Šlachtová, L., Høyer, H., Nishimura, A. L., Cauchi, R. J., Brylev, L., Rogelj, B., Koritnik, B., Zidar, J., Salas, T., Pardina, J. S. M., Gotkine, M., Povedano, M., Corcia, P., Vourc’h, P., Couratier, P., Weber, M., Kiernan, M. C., Pamphlett, R., Blair, I. P., Carvalho, M. D., Başak, N. A., Ingre, C., Andersen, P. M., Zinman, L., Rogaeva, E., MacKenzie, I. R., Dupre, N., Rouleau, G. A., Traynor, B. J., Ticozzi, N., Chiò, A., Silani, V., Hardiman, O., Phatnani, H., Harms, M. B., Dalgard, C. L., Glass, J. D., Landers, J. E., Damme, P. V., Morrison, K. E., Shaw, P. J., Shaw, C. E., Al-Chalabi, A., Berg, L. H. V. D., Kenna, K. P., & Veldink, J. H. (2026). Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis. Nature Genetics. https://doi.org/10.1038/s41588-026-02535-9

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