William Sproviero

2022

Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3'UTR protect against ALS

Project MinE ALS Sequencing Consortium, NYGC ALS Consortium, Eitan, C., Siany, A., Barkan, E., Olender, T., van Eijk, K. R., Moisse, M., Farhan, S. M. K., Danino, Y. M., Yanowski, E., Marmor-Kollet, H., Rivkin, N., Yacovzada, N. S., Hung, S. T., Cooper-Knock, J., Yu, C. H., Louis, C., Masters, S. L. & Kenna, K. P. & 26 others, van der Spek, R. A. A., Sproviero, W., Al Khleifat, A., Iacoangeli, A., Shatunov, A., Jones, A. R., Elbaz-Alon, Y., Cohen, Y., Chapnik, E., Rothschild, D., Weissbrod, O., Beck, G., Ainbinder, E., Ben-Dor, S., Werneburg, S., Schafer, D. P., Brown, R. H., Shaw, P. J., Van Damme, P., van den Berg, L. H., Phatnani, H., Segal, E., Ichida, J. K., Al-Chalabi, A., Veldink, J. H. & Hornstein, E., 1 Apr 2022, In: Nature Neuroscience. 25, 4, p. 433-445 13 p.

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20 Citations (Scopus)

2019

DNAscan: Personal computer compatible NGS analysis, annotation and visualisation

Iacoangeli, A., Al Khleifat, A., Sproviero, W., Shatunov, A., Jones, A. R., Morgan, S. L., Pittman, A., Dobson, R. J., Newhouse, S. J. & Al-Chalabi, A., 27 Apr 2019, In: BMC Bioinformatics. 20, 1, 213.

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Open Access

14 Citations (Scopus)

2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Nicolas, A., Kenna, K. P., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., Murphy, N. A., van Vugt, J. J. F. A., Geiger, J. T., van der Spek, R., Pliner, H. A., [Unknown], S., Smith, B. N. & Marangi, G. & 38 others, Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., Logullo, F. O., Simone, I., Logroscino, G., Salvi, F., Bartolomei, I., Borghero, G., Murru, M. R., Costantino, E., Pani, C., Puddu, R., Caredda, C., Piras, V., Fratta, P., Fogh, I., Al-Sarraj, S., Troakes, C., Vance, C., Shatunov, A., Al-Chalabi, A., Iacoangeli, A., Newhouse, S., Shaw, C., Sproviero, W., Shaw, C. E., ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, NYGC ALS Consortium, Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consortium & Al Khleifat, A., 21 Mar 2018, (E-pub ahead of print) In: Neuron. 97, 6, p. 1268 1 p.

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Open Access

456 Citations (Scopus)

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

Project MinE Consortium, Van Rheenen, W., Pulit, S. L., Dekker, A. M., Al Khleifat, A., Brands, W. J., Iacoangeli, A., Kenna, K. P., Kavak, E., Kooyman, M., McLaughlin, R. L., Middelkoop, B., Moisse, M., Schellevis, R. D., Shatunov, A., Sproviero, W., Tazelaar, G. H. P., Van Der Spek, R. A. A., Van Doormal, P. T. & Van Eijk, K. R. & 17 others, Van Vugt, J., Basak, A. N., Glass, J. D., Hardiman, O., Hide, W., Landers, J. E., Mora, J. S., Morrison, K. E., Newhouse, S., Robberecht, W., Shaw, C. E., Shaw, P. J., Van Damme, P., van Es, M. A., Al-Chalabi, A., Van Den Berg, L. H. & Veldink, J. H., 28 Jun 2018, In: European Journal of Human Genetics. 26, 10, p. 1537-1546

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Open Access

110 Citations (Scopus)

2017

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

Morgan, S., Shatunov, A., Sproviero, W., Jones, A. R., Shoai, M., Hughes, D., Al Khleifat, A., Malaspina, A., Morrison, K. E., Shaw, P. J., Shaw, C. E., Sidle, K., Orrell, R. W., Fratta, P., Hardy, J., Pittman, A. & Al-Chalabi, A., 1 Jun 2017, In: Brain : a journal of neurology. 140, 6, p. 1611-1618 8 p.

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67 Citations (Scopus)

237 Downloads (Pure)

ATXN2 trinucleotide repeat length correlates with risk of ALS

Sproviero, W., Shatunov, A., Stahl, D., Shoai, M., van Rheenen, W., Jones, A. R., Al-Sarraj, S., Andersen, P. M., Bonini, N. M., Conforti, F. L., Van Damme, P., Daoud, H., Del Mar Amador, M., Fogh, I., Forzan, M., Gaastra, B., Gellera, C., Gitler, A. D., Hardy, J. & Fratta, P. & 27 others, La Bella, V., Le Ber, I., Van Langenhove, T., Lattante, S., Lee, Y.-C., Malaspina, A., Meininger, V., Millecamps, S., Orrell, R., Rademakers, R., Robberecht, W., Rouleau, G., Ross, O. A., Salachas, F., Sidle, K., Smith, B. N., Soong, B.-W., Sorarù, G., Stevanin, G., Kabashi, E., Troakes, C., van Broeckhoven, C., Veldink, J. H., van den Berg, L. H., Shaw, C. E., Powell, J. F. & Al-Chalabi, A., Mar 2017, In: Neurobiology of Aging. 51, p. 178.e1-178.e9

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90 Citations (Scopus)

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Detection of long repeat expansions from PCR-free whole-genome sequence data

Dolzhenko, E., Van Vugt, J. J. F. A., Shaw, R. J., Bekritsky, M. A., Van Blitterswijk, M., Narzisi, G., Ajay, S. S., Rajan, V., Lajoie, B., Johnson, N. H., Kingsbury, Z., Humphray, S. J., Schellevis, R. D., Brands, W. J., Baker, M., Rademakers, R., Kooyman, M., Tazelaar, G. H. P., Van Es, M. A. & Mclaughlin, R. & 24 others, Sproviero, W., Shatunov, A., Jones, A., Al Khleifat, A., Pittman, A., Morgan, S., Hardiman, O., Al-chalabi, A., Shaw, C., Smith, B., Neo, E. J., Morrison, K., Shaw, P., Reeves, C., Winterkorn, L., Wexler, N. S., Housman, D. E., Ng, C. W., Li, A. L., Taft, R. J., Van Den Berg, L. H., Bentley, D. R., Veldink, J. H. & Eberle, M. A., Nov 2017, In: Genome Research. 27, 11, p. 1895-1903 9 p.

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221 Citations (Scopus)

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Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

van Eijk, R. P. A., Jones, A., Sproviero, W., Shatunov, A., Shaw, P. J., Leigh, P. N., Young, C. A., Shaw, C. E., Mora, G., Mandrioli, J., Borghero, G., Volanti, P., Diekstra, F. P., van Rheenen, W., Verstraete, E., Eijkemans, M. J. C., Veldink, J. H., Chio, A., Al-Chalabi, A. & van den Berg, L. H. & 2 others, van Es, M. A. & For UKMND-LiCALS and LITALS Study Group, 31 Oct 2017, In: Neurology. 89, 18, p. 1915-1922 8 p.

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77 Citations (Scopus)

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2016

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

van Rheenen, W., Shatunov, A., Dekker, A. M., McLaughlin, R. L., Diekstra, F. P., Pulit, S. L., van der Spek, R. A. A., Võsa, U., de Jong, S., Robinson, M. R., Yang, J., Fogh, I., van Doormaal, P. T., Tazelaar, G. H. P., Koppers, M., Blokhuis, A. M., Sproviero, W., Jones, A. R., Kenna, K. P. & van Eijk, K. R. & 31 others, Harschnitz, O., Schellevis, R. D., Brands, W. J., Medic, J., Menelaou, A., Vajda, A., Ticozzi, N., Lin, K., Rogelj, B., Vrabec, K., Ravnik-Glavač, M., Koritnik, B., Zidar, J., Leonardis, L., Grošelj, L. D., Millecamps, S., Salachas, F., Meininger, V., de Carvalho, M., Pinto, S., Fratta, P., Topp, S., Curtis, C., Shaw, C. E., Smith, B. N., Leigh, P. N., Powell, J., Lewis, C. M., Breen, G., Al-Chalabi, A. & PARALS Registry, Sept 2016, In: Nature Genetics. 48, p. 1043–1048

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398 Citations (Scopus)

159 Downloads (Pure)

William Sproviero

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