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Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology

Wang B*, Vartak R*, Hennick KM*, Zaltsman Y*, Naing ZZC*, Polacco BJ, Bashir A, Eckhardt M, Bouhaddou M, Xu J, Sun N, Lasser MC, Zhou Y, McKetney J, Guiley KZ, Gniewek P, Chan U, Amirani N, Griffiths O, Chadha N, Tognatta R, Cakir M, Gordon M, Khare P, Drake S, Drury V, Burke DF, Gonzalez S, Alkhairy S, Thomas R, Lam S, Morris M, Bader E, Dos Santos M, Komarova AV, Bennett M, Ennis C, Castillo O, Lim Y, Martin R, Seyler M, Baum T, Krasnoff R, Wang G, Middya S, Wang S, Pham P, Arbelaez J, Pratt D, Bali S, Chag S, Kaye JA, Mahmood N, Spraggon L, Rolland T, Hervey-Jumper S, Fraser JS, Bourgeron T, Finkbeiner S, Demeret C, Swaney DL, Bandyopadhyay S, Ideker T, Beltrao P, Willsey HR, Hüttenhain R, Obernier K#, Nowakowski TJ#, State MW#, Willsey AJ#, Krogan NJ#

Science, 2026

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PMID: 42658940
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Rare coding mutations identify 36 large-effect risk genes in obsessive-compulsive disorder and chronic tic disorders

Wang B, Tran MT, Wang S, Liu Y, Olfson E, Wang G, Sun N, Dea J, Olwal CO, Bertolace L, Bloch MH, Cappi C, Chang YC, Chavira D, Coffey BJ, Falkenstein MJ, Frank AC, Franklin ME, Garayalde S, Garrido H, Grados M, Hatem R, Howell AL, Khim S, Kuckertz JM, Le MM, Libby A, McCarty RJ, McNamara ME, McNeil D, Miguel EC, Nasello C, Nguyen B, Norbu T, Oh L, Ordway A, Paciotti C, Peskin VA, Pittenger C, Simpson HB, Martin HS, Tischfield MA, Xing J, Zakrzewski JJ, Tourette International Collaborative Genetics (TIC Genetics), Dietrich A, Gilbert DL, Hoekstra PJ, Kim YS, Kuperman S, Rosen A, Zinner SH, Bouhaddou M, King RA, Rouleau G, Ressler KJ, Mathews CA, Krogan NJ, Sestan N, Tischfield JA#, Lee AM#, Heiman GA#, Fernandez TV#, Willsey AJ#, State MW#

Nature Neuroscience, 2026

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Autism genes converge on microtubule biology and RNA-binding proteins during excitatory neurogenesis

Sun N*, Teyssier N*, Wang B, Drake S, Seyler M, Zaltsman Y, Everitt A, Teerikorpi N, Willsey HR, Goodarzi H, Tian R, Kampmann M, Willsey AJ

Accepted at Translational Psychiatry, 2026

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Oxytocin receptor controls promiscuity and development in prairie voles

Sharma R, Berendzen KM, Everitt A, Wang B, Williams G, Wang S, Quine K, Larios RD, Long KLP, Hoglen N, Sulaman BA, Heath MC, Sherman M, Klinkel R, Cai A, Galo D, Caamal LC, Goodwin NL, Beery A, Bales KL, Pollard KS, Willsey AJ, Manoli DS

eLife, 2025

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RNA-seq: GSE279248

Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD

Wang S, Wang B, Drury V, Drake S, Sun N, Alkhairo H, Arbelaez J, Duhn C; Tourette International Collaborative Genetics (TIC Genetics); Bal VH, Langley K, Martin J, Hoekstra PJ, Dietrich A, Xing J, Heiman GA, Tischfield JA, Fernandez TV, Owen MJ, O'Donovan MC, Thapar A, State MW, Willsey AJ

Nature Communications, 2023

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Pleiotropy of autism-associated chromatin regulators

Lasser M, Sun N, Xu Y, Wang S, Drake S, Law K, Gonzalez S, Wang B, Drury V, Castillo O, Zaltsman Y, Dea J, Bader E, McCluskey KE, State MW, Willsey AJ, Willsey HR

Development, 2023

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Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

Willsey HR*, Willsey AJ*, Wang B, State MW

Nature Reviews Neuroscience, 2022

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SMAD4 represses FOSL1 expression and pancreatic cancer metastatic colonization

Dai C, Rennhack JP, Arnoff TE, Thaker M, Younger ST, Doench JG, Huang AY, Yang A, Aguirre AJ, Wang B, Mun E, O'Connell JT, Huang Y, Labella K, Talamas JA, Li J, Ilic N, Hwang J, Hong AL, Giacomelli AO, Gjoerup O, Root DE, Hahn WC

Cell Reports, 2021

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RNA-seq: GSE148248

Epitope spreading toward wild-type melanocyte-lineage antigens rescues suboptimal immune checkpoint blockade responses

Lo JA, Kawakubo M, Juneja VR, Su MY, Erlich TH, LaFleur MW, Kemeny LV, Rashid M, Malehmir M, Rabi SA, Raghavan R, Allouche J, Kasumova G, Frederick DT, Pauken KE, Weng QY, Pereira da Silva M, Xu Y, van der Sande AAJ, Silkworth W, Roider E, Browne EP, Lieb DJ, Wang B, Garraway LA, Wu CJ, Flaherty KT, Brinckerhoff CE, Mullins DW, Adams DJ, Hacohen N, Hoang MP, Boland GM, Freeman GJ, Sharpe AH, Manstein D, Fisher DE

Science Translational Medicine, 2021

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Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders

Searles Quick VB*, Wang B*, State MW

Neuropsychopharmacology, 2021

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Parallel in vivo analysis of large-effect autism genes implicates cortical neurogenesis and estrogen in risk and resilience

Willsey HR, Exner CRT, Xu Y, Everitt A, Sun N, Wang B, Dea J, Schmunk G, Zaltsman Y, Teerikorpi N, Kim A, Anderson AS, Shin D, Seyler M, Nowakowski TJ, Harland RM, Willsey AJ, State MW

Neuron, 2021

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Copy-number and gene dependency analysis reveals partial copy loss of wild-type SF3B1 as a novel cancer vulnerability

Paolella BR, Gibson WJ, Urbanski LM, Alberta JA, Zack TI, Bandopadhayay P, Nichols CA, Agarwalla PK, Brown MS, Lamothe R, Yu Y, Choi PS, Obeng EA, Heckl D, Wei G, Wang B, Tsherniak A, Vazquez F, Weir BA, Root DE, Cowley GS, Buhrlage SJ, Stiles CD, Ebert BL, Hahn WC, Reed R, Beroukhim R

eLife, 2017

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ATXN1L, CIC, and ETS Transcription Factors Modulate Sensitivity to MAPK Pathway Inhibition

Wang B*, Krall EB*, Aguirre AJ*, Kim M, Widlund HR, Doshi MB, Sicinska E, Sulahian R, Goodale A, Cowley GS, Piccioni F, Doench JG, Root DE, Hahn WC

Cell Reports, 2017

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KEAP1 loss modulates sensitivity to kinase targeted therapy in lung cancer

Krall EB*, Wang B*, Munoz DM*, Ilic N, Raghavan S, Niederst MJ, Yu K, Ruddy DA, Aguirre AJ, Kim JW, Redig AJ, Gainor JF, Williams JA, Asara JM, Doench JG, Janne PA, Shaw AT, McDonald III RE, Engelman JA, Stegmeier F, Schlabach MR, Hahn WC

eLife, 2017

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Vitamin K epoxide reductase prefers ER membrane-anchored thioredoxin-like redox partners

Schulman S, Wang B, Li W, Rapoport TA

PNAS, 2010

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Genome-Wide Association Analysis of Tic Disorders Reveals 6 Independent Risk Loci and Highlights Tic-Associated Cell Types and Brain Circuitry

Yu D, Strom NI, Gerring ZF, Topaloudi A, Halvorsen MW, Shekhar S, Miller-Fleming TW, Tang M, Porras LM, Ivankovic F, Mahjani B, Palviainen T, Corfield EC, Androutsos C, Apter A, Ask H, Baglioni V, Ball J, Barr CL, Barta C, Basha E, Batterson JR, Benaroya-Milshtein N, Benarroch F, Boomsma DI, Børglum AD, Budman CL, Buitelaar JK, Buse J, Bybjerg-Grauholm J, Cardona F, Cath DC, Cavallari LH, Cheon KA, Coffey BJ, Dahl N, Depienne C, Dietrich A, Domènech L, Drineas P, Einarsson G, Elster EM, Fan S, Feldman D, Fernandez TV, Fichna JP, Forde NJ, Fothi A, Fremer C, Gantz E, Garcia-Delgar B, Georgitsi M, Gilbert DL, Glennon J, Glover D, Grados MA, Greenberg EL, Grove J, Gudbjartsson DF, Hartmann A, Havdahl A, Hedderly T, Hengerer B, Herrera-Amighetti LD, Heyman I, Hoekstra PJ, Hong HJ, Huang AY, Huijser C, Isaacs D, Janik P, Jankovic J, Jespersgaard C, Jung S, Kanaan AS, Kapisyzi M, Kappler-Friedrichs C, Kaprio J, Karagiannidis I, Khalifa N, Kim YS, King RA, Kirchen N, Klages CS, Koh YJ, Koumoula A, Kuperman S, Leckman JF, Leventhal BL, Liang H, Lochner C, Lopez ML, Madruga-Garrido M, Malaty IA, Malik O, McMahon WM, Meier SM, Messchendorp MD, Mingbunjerdsuk D, Mir P, Morer A, Müller N, Müller-Vahl K, Münchau A, Muñoz-Delgado L, Murphy T, Nagy P, Neale BM, Nurmi EL, O'Connell KS, Okun MS, Padmanabhuni SS, Pauls DL, Plessen K, Poelmans G, Porcelli C, Posthuma D, Pouwels PJW, Puchala J, Rizzo R, Robertson M, Roessner V, Rosen A, Rouleau G, Sandin S, Sandor P, Scheiene M, Schmitt S, Senior JA, Singer HS, Smoller JW, Sopena S, Steinberg T, Szejko N, Szymanska U, Tarnok Z, Thorarensen O, Timmor M, Tischfield JA, Tümer Z, Uhlmann A, van den Heuvel OA, van der Werf YD, Correa Vela M, Veltman DJ, Vigil-Pérez A, Walters GB, Wang B, Werge T, Widomska J, Wolanczyk T, Worbe Y, Xing J, Yin J, Zekanowski C, Zilhäo NR, Zinner SH, Buxbaum JD, Grice DE, Hultman C, Stefansson H, Andreassen O, Palotie A, Heiman GA, Gandal MJ, Davis LK, Giusti-Rodríguez P, Mattheisen M, Crowley JJ, Paschou P, Scharf JM, Mathews CA

medRxiv, 2026

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medRxiv Preprint

Convergence of autism proteins at the cilium

Kostyanovskaya E, Lasser MC, Wang B, Schmidt J, Bader E, Buteo C, Arbelaez J, Sindledecker AR, McCluskey KE, Castillo O, Wang S, Dea J, Helde KA, Graglia JM, Brimble E, Kastner DB, Ehrlich AT, State MW, Willsey AJ, Willsey HR

bioRxiv, 2024

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Koolen-de Vries Syndrome causal gene KANSL1 is required for motile ciliogenesis

Schmidt JD, Terala A, McCluskey KE, Wang B, Pfalzer AC, Willsey HR

bioRxiv, 2024

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bioRxiv Preprint

Comprehensive structure-function analysis reveals gain- and loss-of-function mechanisms impacting oncogenic KRAS activity

Kwon JJ, Dilly J, Liu S, Kim E, Bian Y, Dharmaiah S, Tran TH, Kapner KS, Ly SH, Yang X, Rabara D, Waybright TJ, Giacomelli AO, Hong AL, Misek S, Wang B, Ravi A, Doench JG, Beroukhim R, Lemke CT, Haigis KM, Esposito D, Root DE, Nissley DV, Stephen AG, McCormick F, Simanshu DK, Hahn WC, Aguirre AJ

bioRxiv, 2024

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