Publications

16 Results (Filters Applied)
  • NYGC ALS Consortium x
Brain. 2023 Feb. 17.

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.

Matteo Zanovello, Kristina Ibáñez, Anna-Leigh Brown, Prasanth Sivakumar, Alessandro Bombaci, Liana Santos, Joke J F A van Vugt, Giuseppe Narzisi, Ramita Karra, Sonja Scholz, Jinhui Ding, J Raphael Gibbs, Adriano Chiò, Clifton Dalgard, Ben Weisburd, The American Genome Center (TAGC) consortium, Genomics England Research Consortium , Project MinE ALS Sequencing Consortium , The NYGC ALS Consortium, Michael G Hanna, Linda Greensmith, Hemali Phatnani, Jan H Veldink, Bryan J Traynor, James Polke, Henry Houlden, Pietro Fratta, Arianna Tucci

PNAS Nexus. 2022 June 24.

Retromer dysfunction in amyotrophic lateral sclerosis.

Eduardo J Pérez-Torres, Irina Utkina-Sosunova, Vartika Mishra, Peter Barbuti, Mariangels De Planell-Saguer, Georgia Dermentzaki , Heather Geiger, Anna O Basile, Nicolas Robine, Delphine Fagegaltier, Kristin A Politi, Paola Rinchetti, Vernice Jackson-Lewis, NYGC ALS Consortium; Matthew Harms, Hemali Phatnani, Francesco Lotti, Serge Przedborski

Nature Neuroscience. 2022 March 31.

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

Chen Eitan, Aviad Siany, Elad Barkan, Tsviya Olender, Kristel R. van Eijk, Matthieu Moisse, Sali M. K. Farhan, Yehuda M. Danino, Eran Yanowski, Hagai Marmor-Kollet, Natalia Rivkin, Nancy Sarah Yacovzada, Shu-Ting Hung, Johnathan Cooper-Knock, Chien-Hsiung Yu, Cynthia Louis, Seth L. Masters, Kevin P. Kenna, Rick A. A. van der Spek, William Sproviero, Ahmad Al Khleifat, Alfredo Iacoangeli, Aleksey Shatunov, Ashley R. Jones, Yael Elbaz-Alon, Yahel Cohen, Elik Chapnik, Daphna Rothschild, Omer Weissbrod, Gilad Beck, Elena Ainbinder, Shifra Ben-Dor, Sebastian Werneburg, Dorothy P. Schafer, Robert H. Brown Jr, Pamela J. Shaw, Philip Van Damme, Leonard H. van den Berg, Hemali Phatnani, Eran Segal, Justin K. Ichida, Ammar Al-Chalabi, Jan H. Veldink, Project MinE ALS Sequencing Consortium, NYGC ALS Consortium & Eran Hornstein

Nature. 2022 Feb. 23.

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.

Anna-Leigh Brown, Oscar G. Wilkins, Matthew J. Keuss, Sarah E. Hill, Matteo Zanovello, Weaverly Colleen Lee, Alexander Bampton, Flora C. Y. Lee, Laura Masino, Yue A. Qi, Sam Bryce-Smith, Ariana Gatt, Martina Hallegger, Delphine Fagegaltier, Hemali Phatnani, NYGC ALS Consortium, Jia Newcombe, Emil K. Gustavsson, Sahba Seddighi, Joel F. Reyes, Steven L. Coon, Daniel Ramos, Giampietro Schiavo, Elizabeth M. C. Fisher, Towfique Raj, Maria Secrier, Tammaryn Lashley, Jernej Ule, Emanuele Buratti, Jack Humphrey, Michael E. Ward & Pietro Fratta

Neuron. 2020 Nov. 26.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Ramita Dewan, Ruth Chia, Jinhui Ding, Richard A Hickman, Thor D Stein, Yevgeniya Abramzon, Sarah Ahmed, Marya S Sabir, Makayla K Portley, Arianna Tucci, Kristina Ibáñez, F N U Shankaracharya, Pamela Keagle, Giacomina Rossi, Paola Caroppo, Fabrizio Tagliavini, Maria L Waldo, Per M Johansson, Christer F Nilsson, American Genome Center (TAGC); FALS Sequencing Consortium; Genomics England Research Consortium; International ALS/FTD Genomics Consortium (iAFGC); International FTD Genetics Consortium (IFGC); International LBD Genomics Consortium (iLBDGC); NYGC ALS Consortium; PROSPECT Consortium; James B Rowe, Luisa Benussi , Giuliano Binetti, Roberta Ghidoni, Edwin Jabbari, Coralie Viollet, Jonathan D Glass 19, Andrew B Singleton, Vincenzo Silani, Owen A Ross, Mina Ryten, Ali Torkamani, Toshiko Tanaka, Luigi Ferrucci, Susan M Resnick, Stuart Pickering-Brown, Christopher B Brady, Neil Kowal, John A Hardy, Vivianna Van Deerlin, Jean Paul Vonsattel, Matthew B Harms, Huw R Morris, Raffaele Ferrari, John E Landers, Adriano Chiò, J Raphael Gibbs, Clifton L Dalgard, Sonja W Scholz, Bryan J Traynor

The Journal of Clinical Investigation. 2020 August 13.

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.

Mercedes Prudencio, Jack Humphrey, Sarah Pickles, Anna-Leigh Brown, Sarah E. Hill, Jennifer Kachergus, Ji Shi, Michael Heckman, Matthew Spiegel, Casey Cook, Yuping Song, Mei Yue, Lillian Daughrity, Yari Carlomagno, Karen Jansen-West, Cristhoper Fernandez De Castro, Michael DeTure, Shunsuke Koga, Ying-Chih Wang, Prasanth Sivakumar, Cristian Bodo, Ana Candalija, Kevin Talbot, Bhuvaneish T. Selvaraj, Karen Burr, Siddharthan Chandran, Jia Newcombe, Tammaryn Lashley, Isabel Hubbard, Demetra Catalano, Duyang Kim, Nadia Propp, Samantha Fennessey, Delphine Fagegaltier, Hemali Phatnani, Maria Secrier, Elizabeth M.C. Fisher, Björn Oskarsson, Marka van Blitterswijk, Rosa Rademakers, Neill R. Graff-Radford, Bradley Boeve, David S. Knopman, Ronald Petersen, Keith Josephs, E. Aubrey Thompson, Towfique Raj, Michael E. Ward, Dennis Dickson, Tania F. Gendron, Pietro Fratta, and Leonard Petrucelli

Science Translational Medicine. 2019 Dec. 18.

Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology.

Irit Reichenstein,*, Chen Eitan, Sandra Diaz-Garcia, Guy Haim, Iddo Magen, Aviad Siany, Mariah L. Hoye, Natali Rivkin, Tsviya Olender, Beata Toth, Revital Ravid, Amitai D. Mandelbaum, Eran Yanowski, Jing Liang, Jeffrey K. Rymer, Rivka Levy, Gilad Beck, Elena Ainbinder, Sali M. K. Farhan, Kimberly A. Lennox, Nicole M. Bode, Mark A. Behlke, Thomas Möller, Smita Saxena, Cristiane A. M. Moreno, Giancarlo Costaguta, Kristel R. van Eijk, Hemali Phatnani, Ammar Al-Chalabi, A. Nazli Başak, Leonard H. van den Berg, Orla Hardiman, John E. Landers, Jesus S. Mora, Karen E. Morrison, Pamela J. Shaw, Jan H. Veldink, Samuel L. Pfaff, Ofer Yizhar, Christina Gross, Robert H. Brown Jr., John M. Ravits, Matthew B. Harms, Timothy M. Miller and Eran Hornstein

Nature Neuroscience. 2019 Nov. 25.

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.

Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Al Khleifat A, Mordes DA, Ghosh S; ALSGENS Consortium; FALS Consortium; Project MinE Consortium; CReATe Consortium, Eggan K, Rademakers R, McCauley JL, Schüle R, Züchner S, Benatar M, Taylor JP, Nalls M, Gotkine M, Shaw PJ, Morrison KE, Al-Chalabi A, Traynor B, Shaw CE, Goldstein DB, Harms MB, Daly MJ, Neale BM.

Elife. 2018. Jul 13.

Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism.

Conlon EG, Fagegaltier D, Agius P, Davis-Porada J, Gregory J, Hubbard I, Kang K, Kim D; New York Genome Center ALS Consortium, Phatnani H, Kwan J, Sareen D, Broach JR, Simmons Z, Arcila-Londono X, Lee EB, Van Deerlin VM, Shneider NA, Fraenkel E, Ostrow LW, Baas F, Zaitlen N, Berry JD, Malaspina A, Fratta P, Cox GA, Thompson LM, Finkbeiner S, Dardiotis E, Miller TM, Chandran S, Pal S, Hornstein E, MacGowan DJ, Heiman-Patterson T, Hammell MG, Patsopoulos NA, Dubnau J, Nath A, Phatnani H, Shneider NA, Manley JL.

Neuron. 2018 Mar. 21.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D’Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr., van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.

This work was partially supported by a gift from the Simons Foundation.