37848026 | Create Study | Single-nucleotide variants within heart enhancers increase binding affinity and disrupt heart development. | Developmental cell | Jindal, Granton A; Bantle, Alexis T; Solvason, Joe J; Grudzien, Jessica L; D'Antonio-Chronowska, Agnieszka; Lim, Fabian; Le, Sophia H; Song, Benjamin P; Ragsac, Michelle F; Klie, Adam; Larsen, Reid O; Frazer, Kelly A; Farley, Emma K | November 6, 2023 | Not Determined |
37601975 | Create Study | Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions. | Cell genomics | Maury, Eduardo A; Sherman, Maxwell A; Genovese, Giulio; Gilgenast, Thomas G; Kamath, Tushar; Burris, S J; Rajarajan, Prashanth; Flaherty, Erin; Akbarian, Schahram; Chess, Andrew; McCarroll, Steven A; Loh, Po-Ru; Phillips-Cremins, Jennifer E; Brennand, Kristen J; Macosko, Evan Z; Walters, James T R; O'Donovan, Michael; Sullivan, Patrick; Psychiatric Genomic Consortium Schizophrenia and CNV workgroup; Brain Somatic Mosaicism Network; Sebat, Jonathan; Lee, Eunjung A; Walsh, Christopher A | August 9, 2023 | Not Determined |
36368308 | Create Study | Genomic architecture of autism from comprehensive whole-genome sequence annotation. | Cell | Trost, Brett; Thiruvahindrapuram, Bhooma; Chan, Ada J S; Engchuan, Worrawat; Higginbotham, Edward J; Howe, Jennifer L; Loureiro, Livia O; Reuter, Miriam S; Roshandel, Delnaz; Whitney, Joe; Zarrei, Mehdi; Bookman, Matthew; Somerville, Cherith; Shaath, Rulan; Abdi, Mona; Aliyev, Elbay; Patel, Rohan V; Nalpathamkalam, Thomas; Pellecchia, Giovanna; Hamdan, Omar; Kaur, Gaganjot; Wang, Zhuozhi; MacDonald, Jeffrey R; Wei, John; Sung, Wilson W L; Lamoureux, Sylvia; Hoang, Ny; Selvanayagam, Thanuja; Deflaux, Nicole; Geng, Melissa; Ghaffari, Siavash; Bates, John; Young, Edwin J; Ding, Qiliang; Shum, Carole; D'Abate, Lia; Bradley, Clarrisa A; Rutherford, Annabel; Aguda, Vernie; Apresto, Beverly; Chen, Nan; Desai, Sachin; Du, Xiaoyan; Fong, Matthew L Y; Pullenayegum, Sanjeev; Samler, Kozue; Wang, Ting; Ho, Karen; Paton, Tara; Pereira, Sergio L; Herbrick, Jo-Anne; Wintle, Richard F; Fuerth, Jonathan; Noppornpitak, Juti; Ward, Heather; Magee, Patrick; Al Baz, Ayman; Kajendirarajah, Usanthan; Kapadia, Sharvari; Vlasblom, Jim; Valluri, Monica; Green, Joseph; Seifer, Vicki; Quirbach, Morgan; Rennie, Olivia; Kelley, Elizabeth; Masjedi, Nina; Lord, Catherine; Szego, Michael J; Zawati, Ma'n H; Lang, Michael; Strug, Lisa J; Marshall, Christian R; Costain, Gregory; Calli, Kristina; Iaboni, Alana; Yusuf, Afiqah; Ambrozewicz, Patricia; Gallagher, Louise; Amaral, David G; Brian, Jessica; Elsabbagh, Mayada; Georgiades, Stelios; Messinger, Daniel S; Ozonoff, Sally; Sebat, Jonathan; Sjaarda, Calvin; Smith, Isabel M; Szatmari, Peter; Zwaigenbaum, Lonnie; Kushki, Azadeh; Frazier, Thomas W; Vorstman, Jacob A S; Fakhro, Khalid A; Fernandez, Bridget A; Lewis, M E Suzanne; Weksberg, Rosanna; Fiume, Marc; Yuen, Ryan K C; Anagnostou, Evdokia; Sondheimer, Neal; Glazer, David; Hartley, Dean M; Scherer, Stephen W | November 10, 2022 | Not Determined |
35720252 | Create Study | SNPs, short tandem repeats, and structural variants are responsible for differential gene expression across C57BL/6 and C57BL/10 substrains. | Cell genomics | Mortazavi, Milad; Ren, Yangsu; Saini, Shubham; Antaki, Danny; St Pierre, Celine L; Williams, April; Sohni, Abhishek; Wilkinson, Miles F; Gymrek, Melissa; Sebat, Jonathan; Palmer, Abraham A | March 9, 2022 | Not Determined |
35654974 | Create Study | A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex. | Nature genetics | Antaki, Danny; Guevara, James; Maihofer, Adam X; Klein, Marieke; Gujral, Madhusudan; Grove, Jakob; Carey, Caitlin E; Hong, Oanh; Arranz, Maria J; Hervas, Amaia; Corsello, Christina; Vaux, Keith K; Muotri, Alysson R; Iakoucheva, Lilia M; Courchesne, Eric; Pierce, Karen; Gleeson, Joseph G; Robinson, Elise B; Nievergelt, Caroline M; Sebat, Jonathan | September 1, 2022 | Not Determined |
33821956 | Create Study | Customized de novo mutation detection for any variant calling pipeline: SynthDNM. | Bioinformatics (Oxford, England) | Lian, Aojie; Guevara, James; Xia, Kun; Sebat, Jonathan | October 25, 2021 | Not Determined |
33727673 | Create Study | Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling. | Molecular psychiatry | Amar, Megha; Pramod, Akula Bala; Yu, Nam-Kyung; Herrera, Victor Munive; Qiu, Lily R; Moran-Losada, Patricia; Zhang, Pan; Trujillo, Cleber A; Ellegood, Jacob; Urresti, Jorge; Chau, Kevin; Diedrich, Jolene; Chen, Jiaye; Gutierrez, Jessica; Sebat, Jonathan; Ramanathan, Dhakshin; Lerch, Jason P; Yates 3rd, John R; Muotri, Alysson R; Iakoucheva, Lilia M | July 1, 2021 | Not Determined |
33219223 | Create Study | Inferring the molecular and phenotypic impact of amino acid variants with MutPred2. | Nature communications | Pejaver, Vikas; Urresti, Jorge; Lugo-Martinez, Jose; Pagel, Kymberleigh A; Lin, Guan Ning; Nam, Hyun-Jun; Mort, Matthew; Cooper, David N; Sebat, Jonathan; Iakoucheva, Lilia M; Mooney, Sean D; Radivojac, Predrag | November 20, 2020 | Not Determined |
31873310 | Create Study | Autism risk in offspring can be assessed through quantification of male sperm mosaicism. | Nature medicine | Breuss, Martin W; Antaki, Danny; George, Renee D; Kleiber, Morgan; James, Kiely N; Ball, Laurel L; Hong, Oanh; Mitra, Ileena; Yang, Xiaoxu; Wirth, Sara A; Gu, Jing; Garcia, Camila A B; Gujral, Madhusudan; Brandler, William M; Musaev, Damir; Nguyen, An; McEvoy-Venneri, Jennifer; Knox, Renatta; Sticca, Evan; Botello, Martha Cristina Cancino; Uribe Fenner, Javiera; Pérez, Maria Cárcel; Arranz, Maria; Moffitt, Andrea B; Wang, Zihua; Hervás, Amaia; Devinsky, Orrin; Gymrek, Melissa; Sebat, Jonathan; Gleeson, Joseph G | January 1, 2020 | Not Determined |
31748530 | Create Study | Ranking of non-coding pathogenic variants and putative essential regions of the human genome. | Nature communications | Wells, Alex; Heckerman, David; Torkamani, Ali; Yin, Li; Sebat, Jonathan; Ren, Bing; Telenti, Amalio; di Iulio, Julia | November 20, 2019 | Not Determined |
31491383 | Create Study | Getting to the Cores of Autism. | Cell | Iakoucheva, Lilia M; Muotri, Alysson R; Sebat, Jonathan | September 5, 2019 | Not Determined |
30353011 | Create Study | A reference haplotype panel for genome-wide imputation of short tandem repeats. | Nature communications | Saini, Shubham; Mitra, Ileena; Mousavi, Nima; Fotsing, Stephanie Feupe; Gymrek, Melissa | October 23, 2018 | Not Determined |
29674594 | Create Study | Paternally inherited cis-regulatory structural variants are associated with autism. | Science (New York, N.Y.) | Brandler, William M; Antaki, Danny; Gujral, Madhusudan; Kleiber, Morgan L; Whitney, Joe; Maile, Michelle S; Hong, Oanh; Chapman, Timothy R; Tan, Shirley; Tandon, Prateek; Pang, Timothy; Tang, Shih C; Vaux, Keith K; Yang, Yan; Harrington, Eoghan; Juul, Sissel; Turner, Daniel J; Thiruvahindrapuram, Bhooma; Kaur, Gaganjot; Wang, Zhuozhi; Kingsmore, Stephen F; Gleeson, Joseph G; Bisson, Denis; Kakaradov, Boyko; Telenti, Amalio; Venter, J Craig; Corominas, Roser; Toma, Claudio; Cormand, Bru; Rueda, Isabel; Guijarro, Silvina; Messer, Karen S; Nievergelt, Caroline M; Arranz, Maria J; Courchesne, Eric; Pierce, Karen; Muotri, Alysson R; Iakoucheva, Lilia M; Hervas, Amaia; Scherer, Stephen W; Corsello, Christina; Sebat, Jonathan | April 2018 | Relevant |
29300834 | Create Study | SV2: Accurate Structural Variation Genotyping and De Novo Mutation Detection from Whole Genomes. | Bioinformatics (Oxford, England) | Antaki D, Brandler WM, Sebat J | December 2017 | Relevant |