Publications

Development and validation of a nonverbal consensus-based semantic memory paradigm in patients with epilepsy.

Tran EB, Vonk JMJ, Casaletto K, Zhang D, Christin R, Marathe S, Gorno-Tempini ML, Chang EF, Kleen JK

2024
CWAS-Plus: Estimating category-wide association of rare noncoding variation from whole-genome sequencing data with cell-type-specific functional data.

Kim Y, Jeong M, Koh IG, Kim C, Lee H, Kim JH, Yurko R, Kim IB, Park J, Werling DM, Sanders SJ, An JY

2024
Reversal of C9orf72 mutation-induced transcriptional dysregulation and pathology in cultured human neurons by allele-specific excision.

Sachdev A, Gill K, Sckaff M, Birk AM, Aladesuyi Arogundade O, Brown KA, Chouhan RS, Issagholian-Lewin PO, Patel E, Watry HL, Bernardi MT, Keough KC, Tsai YC, Smith AST, Conklin BR, Clelland CD

2024
α-Synuclein triggers cofilin pathology and dendritic spine impairment via a PrPC-CCR5 dependent pathway.

Oliveira da Silva MI, Santejo M, Babcock IW, Magalhães A, Minamide LS, Won SJ, Castillo E, Gerhardt E, Fahlbusch C, Swanson RA, Outeiro TF, Taipa R, Ruff M, Bamburg JR, Liz MA

2024
PyOKR: A Semi-Automated Method for Quantifying Optokinetic Reflex Tracking Ability.

Kiraly JK, Harris SC, Al-Khindi T, Dunn FA, Kolodkin AL

2024
Acute and Chronic Demyelination Independent of Inflammation Promotes Tissue- and Blood-markers of Neuroaxonal Pathology (S17.010).

Ahmed Abdelhak, Christian Cordano, Katie Emberley, Greg Duncan, Sonia Nocera, Kirtana Ananth, Nora Jabassini, Kiarra Ning, Henriette Reinsberg, Frederike Oertel, Alexandra Beaudry-Richard, Jens Kuhle, Trent Watkins, Jonah Chan, Ben Emery, Ari Green

2024
Synaptic Injury in the IPL of the Retina Is a Predictor of Progression in Multiple Sclerosis (P6-6.003).

Christian Cordano, Sebastian Werneburg, Ahmed Abdelhak, Daniel Bennett, Alexandra Beaudry-richard, Greg Duncan, Frederike Oertel, John Boscardin, Hao Yiu, Nora Jabassini, Lauren Merritt, Sonia Nocera, Jung Sin, Shivany Condor Montes, Kirtana Ananth, Antje Bischof, Bardia Nourbakhsh, Stephen Hauser, Bruce Cree, Ben Emery, Jonah Chan, Dorothy Schafer, Ari Green

2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N

2024
B Cell-mediated Neurotoxicity in Multiple Sclerosis (P7-6.003).

Chaitrali Saha, Amy Zhang, Kun Leng, Chloe Gerungan, Ahmed Abdelhak, Refujia Gomez, Meagan Harms, Asritha Tubati, Tiffany Cooper, Martineau Louine, Joseph Sabatino, Martin Kampmann, Ari Green, Jorge Oksenberg, Bruce Cree, Michael Wilson, Stephen Hauser

2024

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