| 32820185 | Create Study | Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder. | Scientific reports | Schmitz-Abe, Klaus; Sanchez-Schmitz, Guzman; Doan, Ryan N; Hill, R Sean; Chahrour, Maria H; Mehta, Bhaven K; Servattalab, Sarah; Ataman, Bulent; Lam, Anh-Thu N; Morrow, Eric M; Greenberg, Michael E; Yu, Timothy W; Walsh, Christopher A; Markianos, Kyriacos | August 2020 | Not Determined |
| 31209396 | Create Study | Recessive gene disruptions in autism spectrum disorder. | Nature genetics | Doan, Ryan N; Lim, Elaine T; De Rubeis, Silvia; Betancur, Catalina; Cutler, David J; Chiocchetti, Andreas G; Overman, Lynne M; Soucy, Aubrie; Goetze, Susanne; Autism Sequencing Consortium; Freitag, Christine M; Daly, Mark J; Walsh, Christopher A; Buxbaum, Joseph D; Yu, Timothy W | July 2019 | Not Determined |
| 30421579 | Create Study | PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. | American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics | Khalil, Raida; Kenny, Connor; Hill, R Sean; Mochida, Ganeshwaran H; Nasir, Ramzi; Partlow, Jennifer N; Barry, Brenda J; Al-Saffar, Muna; Egan, Chloe; Stevens, Christine R; Gabriel, Stacey B; Barkovich, A James; Ellison, Jay W; Al-Gazali, Lihadh; Walsh, Christopher A; Chahrour, Maria H | December 2018 | Not Determined |
| 30152010 | Create Study | Rainer W. Guillery and the genetic analysis of brain development. | The European journal of neuroscience | Walsh, Christopher A | April 2019 | Not Determined |
| 29986162 | Create Study | Evolutionary Changes in Transcriptional Regulation: Insights into Human Behavior and Neurological Conditions. | Annual review of neuroscience | Doan, Ryan N; Shin, Taehwan; Walsh, Christopher A | July 2018 | Not Determined |
| 28714951 | Create Study | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. | Nature neuroscience | Lim, Elaine T; Uddin, Mohammed; De Rubeis, Silvia; Chan, Yingleong; Kamumbu, Anne S; Zhang, Xiaochang; D'Gama, Alissa M; Kim, Sonia N; Hill, Robert Sean; Goldberg, Arthur P; Poultney, Christopher; Minshew, Nancy J; Kushima, Itaru; Aleksic, Branko; Ozaki, Norio; Parellada, Mara; Arango, Celso; Penzol, Maria J; Carracedo, Angel; Kolevzon, Alexander; Hultman, Christina M; Weiss, Lauren A; Fromer, Menachem; Chiocchetti, Andreas G; Freitag, Christine M; Autism Sequencing Consortium; Church, George M; Scherer, Stephen W; Buxbaum, Joseph D; Walsh, Christopher A | September 2017 | Not Determined |
| 28254648 | Create Study | Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. | European journal of medical genetics | Lakhani, Shenela; Doan, Ryan; Almureikhi, Mariam; Partlow, Jennifer N; Al Saffar, Muna; Elsaid, Mahmoud F; Alaaraj, Nada; James Barkovich, A; Walsh, Christopher A; Ben-Omran, Tawfeg | May 2017 | Not Determined |
| 28250456 | Create Study | Biallelic mutations in human DCC cause developmental split-brain syndrome. | Nature genetics | Jamuar, Saumya S; Schmitz-Abe, Klaus; D'Gama, Alissa M; Drottar, Marie; Chan, Wai-Man; Peeva, Maya; Servattalab, Sarah; Lam, Anh-Thu N; Delgado, Mauricio R; Clegg, Nancy J; Zayed, Zayed Al; Dogar, Mohammad Asif; Alorainy, Ibrahim A; Jamea, Abdullah Abu; Abu-Amero, Khaled; Griebel, May; Ward, Wendy; Lein, Ed S; Markianos, Kyriacos; Barkovich, A James; Robson, Caroline D; Grant, P Ellen; Bosley, Thomas M; Engle, Elizabeth C; Walsh, Christopher A; Yu, Timothy W | April 2017 | Not Determined |
| 27677958 | Create Study | Rare variant association test in family-based sequencing studies. | Briefings in bioinformatics | Wang, Xuefeng; Zhang, Zhenyu; Morris, Nathan; Cai, Tianxi; Lee, Seunggeun; Wang, Chaolong; Yu, Timothy W; Walsh, Christopher A; Lin, Xihong | November 2017 | Not Determined |
| 27667684 | Create Study | Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior. | Cell | Doan, Ryan N; Bae, Byoung-Il; Cubelos, Beatriz; Chang, Cindy; Hossain, Amer A; Al-Saad, Samira; Mukaddes, Nahit M; Oner, Ozgur; Al-Saffar, Muna; Balkhy, Soher; Gascon, Generoso G; Homozygosity Mapping Consortium for Autism; Nieto, Marta; Walsh, Christopher A | October 2016 | Not Determined |
| 26826102 | Create Study | Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits. | Cerebral cortex (New York, N.Y. : 1991) | Oaks, Adam W; Zamarbide, Marta; Tambunan, Dimira E; Santini, Emanuela; Di Costanzo, Stefania; Pond, Heather L; Johnson, Mark W; Lin, Jeff; Gonzalez, Dilenny M; Boehler, Jessica F; Wu, Guangying K; Klann, Eric; Walsh, Christopher A; Manzini, M Chiara | February 2017 | Not Relevant |
| 26637798 | Create Study | Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. | Neuron | D'Gama, Alissa M; Pochareddy, Sirisha; Li, Mingfeng; Jamuar, Saumya S; Reiff, Rachel E; Lam, Anh-Thu N; Sestan, Nenad; Walsh, Christopher A | December 2, 2015 | Not Determined |
| 26022163 | Create Study | Genomic variants and variations in malformations of cortical development. | Pediatric clinics of North America | Jamuar, Saumya S; Walsh, Christopher A | June 2015 | Not Relevant |
| 25599672 | Create Study | Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. | Annals of neurology | D'Gama, Alissa M; Geng, Ying; Couto, Javier A; Martin, Beth; Boyle, Evan A; LaCoursiere, Christopher M; Hossain, Amer; Hatem, Nicole E; Barry, Brenda J; Kwiatkowski, David J; Vinters, Harry V; Barkovich, A James; Shendure, Jay; Mathern, Gary W; Walsh, Christopher A; Poduri, Annapurna | April 2015 | Not Determined |
| 25534755 | Create Study | A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? | Biological psychiatry | Chaste, Pauline; Klei, Lambertus; Sanders, Stephan J; Hus, Vanessa; Murtha, Michael T; Lowe, Jennifer K; Willsey, A Jeremy; Moreno-De-Luca, Daniel; Yu, Timothy W; Fombonne, Eric; Geschwind, Daniel; Grice, Dorothy E; Ledbetter, David H; Mane, Shrikant M; Martin, Donna M; Morrow, Eric M; Walsh, Christopher A; Sutcliffe, James S; Lese Martin, Christa; Beaudet, Arthur L; Lord, Catherine; State, Matthew W; Cook Jr, Edwin H; Devlin, Bernie | May 1, 2015 | Not Determined |
| 25363760 | Create Study | Synaptic, transcriptional and chromatin genes disrupted in autism. | Nature | De Rubeis, Silvia; He, Xin; Goldberg, Arthur P; Poultney, Christopher S; Samocha, Kaitlin; Cicek, A Erucment; Kou, Yan; Liu, Li; Fromer, Menachem; Walker, Susan; Singh, Tarinder; Klei, Lambertus; Kosmicki, Jack; Shih-Chen, Fu; Aleksic, Branko; Biscaldi, Monica; Bolton, Patrick F; Brownfeld, Jessica M; Cai, Jinlu; Campbell, Nicholas G; Carracedo, Angel; Chahrour, Maria H; Chiocchetti, Andreas G; Coon, Hilary; Crawford, Emily L; Curran, Sarah R; Dawson, Geraldine; Duketis, Eftichia; Fernandez, Bridget A; Gallagher, Louise; Geller, Evan; Guter, Stephen J; Hill, R Sean; Ionita-Laza, Juliana; Jimenz Gonzalez, Patricia; Kilpinen, Helena; Klauck, Sabine M; Kolevzon, Alexander; Lee, Irene; Lei, Irene; Lei, Jing; Lehtimäki, Terho; Lin, Chiao-Feng; Ma'ayan, Avi; Marshall, Christian R; McInnes, Alison L; Neale, Benjamin; Owen, Michael J; Ozaki, Noriio; Parellada, Mara; Parr, Jeremy R; Purcell, Shaun; Puura, Kaija; Rajagopalan, Deepthi; Rehnström, Karola; Reichenberg, Abraham; Sabo, Aniko; Sachse, Michael; Sanders, Stephan J; Schafer, Chad; Schulte-Rüther, Martin; Skuse, David; Stevens, Christine; Szatmari, Peter; Tammimies, Kristiina; Valladares, Otto; Voran, Annette; Li-San, Wang; Weiss, Lauren A; Willsey, A Jeremy; Yu, Timothy W; Yuen, Ryan K C; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium; Cook, Edwin H; Freitag, Christine M; Gill, Michael; Hultman, Christina M; Lehner, Thomas; Palotie, Aaarno; Schellenberg, Gerard D; Sklar, Pamela; State, Matthew W; Sutcliffe, James S; Walsh, Christiopher A; Scherer, Stephen W; Zwick, Michael E; Barett, Jeffrey C; Cutler, David J; Roeder, Kathryn; Devlin, Bernie; Daly, Mark J; Buxbaum, Joseph D | November 13, 2014 | Not Relevant |
| 25184530 | Create Study | The diverse genetic landscape of neurodevelopmental disorders. | Annual review of genomics and human genetics | Hu, Wen F; Chahrour, Maria H; Walsh, Christopher A | 2014 | Not Relevant |
| 25151423 | Create Study | Executive function in probands with autism with average IQ and their unaffected first-degree relatives. | Journal of the American Academy of Child and Adolescent Psychiatry | McLean, Rebecca L; Johnson Harrison, Ashley; Zimak, Eric; Joseph, Robert M; Morrow, Eric M | September 2014 | Not Determined |
| 25066123 | Create Study | CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis. | Cell reports | Manzini, M Chiara; Xiong, Lan; Shaheen, Ranad; Tambunan, Dimira E; Di Costanzo, Stefania; Mitisalis, Vanessa; Tischfield, David J; Cinquino, Antonella; Ghaziuddin, Mohammed; Christian, Mehtab; Jiang, Qin; Laurent, Sandra; Nanjiani, Zohair A; Rasheed, Saima; Hill, R Sean; Lizarraga, Sofia B; Gleason, Danielle; Sabbagh, Diya; Salih, Mustafa A; Alkuraya, Fowzan S; Walsh, Christopher A | August 7, 2014 | Not Determined |
| 24501276 | Create Study | METTL23, a transcriptional partner of GABPA, is essential for human cognition. | Human molecular genetics | Reiff, Rachel E; Ali, Bassam R; Baron, Byron; Yu, Timothy W; Ben-Salem, Salma; Coulter, Michael E; Schubert, Christian R; Hill, R Sean; Akawi, Nadia A; Al-Younes, Banan; Kaya, Namik; Evrony, Gilad D; Al-Saffar, Muna; Felie, Jillian M; Partlow, Jennifer N; Sunu, Christine M; Schembri-Wismayer, Pierre; Alkuraya, Fowzan S; Meyer, Brian F; Walsh, Christopher A; Al-Gazali, Lihadh; Mochida, Ganeshwaran H | July 1, 2014 | Not Determined |
| 24038210 | Create Study | New innovations: therapeutic opportunities for intellectual disabilities. | Annals of neurology | Picker, Jonathan D; Walsh, Christopher A | September 2013 | Not Relevant |
| 23828942 | Create Study | Somatic mutation, genomic variation, and neurological disease. | Science (New York, N.Y.) | Poduri, Annapurna; Evrony, Gilad D; Cai, Xuyu; Walsh, Christopher A | July 5, 2013 | Not Relevant |
| 23352163 | Study (294) | Using whole-exome sequencing to identify inherited causes of autism. | Neuron | Yu, Timothy W; Chahrour, Maria H; Coulter, Michael E; Jiralerspong, Sarn; Okamura-Ikeda, Kazuko; Ataman, Bulent; Schmitz-Abe, Klaus; Harmin, David A; Adli, Mazhar; Malik, Athar N; D'Gama, Alissa M; Lim, Elaine T; Sanders, Stephan J; Mochida, Ganesh H; Partlow, Jennifer N; Sunu, Christine M; Felie, Jillian M; Rodriguez, Jacqueline; Nasir, Ramzi H; Ware, Janice; Joseph, Robert M; Hill, R Sean; Kwan, Benjamin Y; Al-Saffar, Muna; Mukaddes, Nahit M; Hashmi, Asif; Balkhy, Soher; Gascon, Generoso G; Hisama, Fuki M; LeClair, Elaine; Poduri, Annapurna; Oner, Ozgur; Al-Saad, Samira; Al-Awadi, Sadika A; Bastaki, Laila; Ben-Omran, Tawfeg; Teebi, Ahmad S; Al-Gazali, Lihadh; Eapen, Valsamma; Stevens, Christine R; Rappaport, Leonard; Gabriel, Stacey B; Markianos, Kyriacos; State, Matthew W; Greenberg, Michael E; Taniguchi, Hisaaki; Braverman, Nancy E; Morrow, Eric M; Walsh, Christopher A | January 23, 2013 | Relevant |
| 23065101 | Create Study | Brief report: prevalence of attention deficit/hyperactivity disorder among individuals with an autism spectrum disorder. | Journal of autism and developmental disorders | Hanson, Ellen; Cerban, Bettina M; Slater, Chelsea M; Caccamo, Laura M; Bacic, Janine; Chan, Eugenia | June 2013 | Not Determined |
| 22511880 | Study (293) | Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. | PLoS genetics | Chahrour, Maria H; Yu, Timothy W; Lim, Elaine T; Ataman, Bulent; Coulter, Michael E; Hill, R Sean; Stevens, Christine R; Schubert, Christian R; ARRA Autism Sequencing Collaboration; Greenberg, Michael E; Gabriel, Stacey B; Walsh, Christopher A | 2012 | Relevant |