Publications

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.

Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Wamsley B, Klei L, Wang L, Hao SP, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, Dodge S, Gabriel SB, Gauthier L, Lee SK, Liang L, Ljungdahl A, Mahjani B, Sloofman L, Smirnov AN, Barbosa M, Betancur C, Brusco A, Chung BHY, Cook EH, Cuccaro ML, Domenici E, Ferrero GB, Gargus JJ, Herman GE, Hertz-Picciotto I, Maciel P, Manoach DS, Passos-Bueno MR, Persico AM, Renieri A, Sutcliffe JS, Tassone F, Trabetti E, Campos G, Cardaropoli S, Carli D, Chan MCY, Fallerini C, Giorgio E, Girardi AC, Hansen-Kiss E, Lee SL, Lintas C, Ludena Y, Nguyen R, Pavinato L, Pericak-Vance M, Pessah IN, Schmidt RJ, Smith M, Costa CIS, Trajkova S, Wang JYT, Yu MHC, Autism Sequencing Consortium (ASC), Broad Institute Center for Common Disease Genomics (Broad-CCDG), iPSYCH-BROAD Consortium, Cutler DJ, De Rubeis S, Buxbaum JD, Daly MJ, Devlin B, Roeder K, Sanders SJ, Talkowski ME

2022
The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications.

Selvadurai LP, Perlman SL, Wilmot GR, Subramony SH, Gomez CM, Ashizawa T, Paulson HL, Onyike CU, Rosenthal LS, Sair HI, Kuo SH, Ratai EM, Zesiewicz TA, Bushara KO, ?z G, Dietiker C, Geschwind MD, Nelson AB, Opal P, Yacoubian TA, Nopoulos PC, Shakkottai VG, Figueroa KP, Pulst SM, Morrison PE, Schmahmann JD

2022
A CRISPRi/a platform in human iPSC-derived microglia uncovers regulators of disease states.

Dr?ger NM, Sattler SM, Huang CT, Teter OM, Leng K, Hashemi SH, Hong J, Aviles G, Clelland CD, Zhan L, Udeochu JC, Kodama L, Singleton AB, Nalls MA, Ichida J, Ward ME, Faghri F, Gan L, Kampmann M

2022
Rainwater Charitable Foundation criteria for the neuropathologic diagnosis of progressive supranuclear palsy.

Roemer SF, Grinberg LT, Crary JF, Seeley WW, McKee AC, Kovacs GG, Beach TG, Duyckaerts C, Ferrer IA, Gelpi E, Lee EB, Revesz T, White CL, Yoshida M, Pereira FL, Whitney K, Ghayal NB, Dickson DW

2022

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