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Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
Jiang, Yong-hui, Yuen, Ryan K.C., Jin, Xin, Wang, Mingbang, Chen, Nong, Wu, Xueli, Ju, Jia, Mei, Junpu, Shi, Yujian, He, Mingze, Wang, Guangbiao, Liang, Jieqin, Wang, Zhe, Cao, Dandan, Carter, Melissa T., Chrysler, Christina, Drmic, Irene E., Howe, Jennifer L., Lau, Lynette, Marshall, Christian R., Merico, Daniele, Nalpathamkalam, Thomas, Thiruvahindrapuram, Bhooma, Thompson, Ann, Uddin, Mohammed, Walker, Susan, Luo, Jun, Anagnostou, Evdokia, Zwaigenbaum, Lonnie, Ring, Robert H., Wang, Jian, Lajonchere, Clara, Wang, Jun, Shih, Andy, Szatmari, Peter, Yang, Huanming, Dawson, Geraldine, Li, Yingrui, Scherer, Stephen W.
Published in American journal of human genetics (08.08.2013)
Published in American journal of human genetics (08.08.2013)
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Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD
Lionel, Anath C, Crosbie, Jennifer, Barbosa, Nicole, Goodale, Tara, Thiruvahindrapuram, Bhooma, Rickaby, Jessica, Gazzellone, Matthew, Carson, Andrew R, Howe, Jennifer L, Wang, Zhuozhi, Wei, John, Stewart, Alexandre F R, Roberts, Robert, McPherson, Ruth, Fiebig, Andreas, Franke, Andre, Schreiber, Stefan, Zwaigenbaum, Lonnie, Fernandez, Bridget A, Roberts, Wendy, Arnold, Paul D, Szatmari, Peter, Marshall, Christian R, Schachar, Russell, Scherer, Stephen W
Published in Science translational medicine (10.08.2011)
Published in Science translational medicine (10.08.2011)
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CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks
Deneault, Eric, Faheem, Muhammad, White, Sean H, Rodrigues, Deivid C, Sun, Song, Wei, Wei, Piekna, Alina, Thompson, Tadeo, Howe, Jennifer L, Chalil, Leon, Kwan, Vickie, Walker, Susan, Pasceri, Peter, Roth, Frederick P, Yuen, Ryan KC, Singh, Karun K, Ellis, James, Scherer, Stephen W
Published in eLife (12.02.2019)
Published in eLife (12.02.2019)
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Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons
Deneault, Eric, White, Sean H., Rodrigues, Deivid C., Ross, P. Joel, Faheem, Muhammad, Zaslavsky, Kirill, Wang, Zhuozhi, Alexandrova, Roumiana, Pellecchia, Giovanna, Wei, Wei, Piekna, Alina, Kaur, Gaganjot, Howe, Jennifer L., Kwan, Vickie, Thiruvahindrapuram, Bhooma, Walker, Susan, Lionel, Anath C., Pasceri, Peter, Merico, Daniele, Yuen, Ryan K.C., Singh, Karun K., Ellis, James, Scherer, Stephen W.
Published in Stem cell reports (13.11.2018)
Published in Stem cell reports (13.11.2018)
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Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons
Faheem, Muhammad, Deneault, Eric, Alexandrova, Roumiana, Rodrigues, Deivid C., Pellecchia, Giovanna, Shum, Carole, Zarrei, Mehdi, Piekna, Alina, Wei, Wei, Howe, Jennifer L., Thiruvahindrapuram, Bhooma, Lamoureux, Sylvia, Ross, P. Joel, Bradley, Clarrisa A., Ellis, James, Scherer, Stephen W.
Published in BMC medical genomics (12.01.2023)
Published in BMC medical genomics (12.01.2023)
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Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells
Nassir, Nasna, Bankapur, Asma, Samara, Bisan, Ali, Abdulrahman, Ahmed, Awab, Inuwa, Ibrahim M., Zarrei, Mehdi, Safizadeh Shabestari, Seyed Ali, AlBanna, Ammar, Howe, Jennifer L., Berdiev, Bakhrom K., Scherer, Stephen W., Woodbury-Smith, Marc, Uddin, Mohammed
Published in Human genomics (21.11.2021)
Published in Human genomics (21.11.2021)
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Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
Tuncay, Islam Oguz, Parmalee, Nancy L., Khalil, Raida, Kaur, Kiran, Kumar, Ashwani, Jimale, Mohamed, Howe, Jennifer L., Goodspeed, Kimberly, Evans, Patricia, Alzghoul, Loai, Xing, Chao, Scherer, Stephen W., Chahrour, Maria H.
Published in Npj genomic medicine (21.02.2022)
Published in Npj genomic medicine (21.02.2022)
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Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly
Woodbury-Smith, Marc, Deneault, Eric, Yuen, Ryan K. C., Walker, Susan, Zarrei, Mehdi, Pellecchia, Giovanna, Howe, Jennifer L., Hoang, Ny, Uddin, Mohammed, Marshall, Christian R., Chrysler, Christina, Thompson, Ann, Szatmari, Peter, Scherer, Stephen W.
Published in Molecular autism (09.11.2017)
Published in Molecular autism (09.11.2017)
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A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees
Woodbury-Smith, Marc, Paterson, Andrew D., O’Connor, Irene, Zarrei, Mehdi, Yuen, Ryan K. C., Howe, Jennifer L, Thompson, Ann, Parlier, Morgan, Fernandez, Bridget, Piven, Joseph, Scherer, Stephen W., Vieland, Veronica, Szatmari, Peter
Published in Journal of neurodevelopmental disorders (11.06.2018)
Published in Journal of neurodevelopmental disorders (11.06.2018)
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Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
C Yuen, Ryan K, Merico, Daniele, Bookman, Matt, L Howe, Jennifer, Thiruvahindrapuram, Bhooma, Patel, Rohan V, Whitney, Joe, Deflaux, Nicole, Bingham, Jonathan, Wang, Zhuozhi, Pellecchia, Giovanna, Buchanan, Janet A, Walker, Susan, Marshall, Christian R, Uddin, Mohammed, Zarrei, Mehdi, Deneault, Eric, D'Abate, Lia, Chan, Ada J S, Koyanagi, Stephanie, Paton, Tara, Pereira, Sergio L, Hoang, Ny, Engchuan, Worrawat, Higginbotham, Edward J, Ho, Karen, Lamoureux, Sylvia, Li, Weili, MacDonald, Jeffrey R, Nalpathamkalam, Thomas, Sung, Wilson W L, Tsoi, Fiona J, Wei, John, Xu, Lizhen, Tasse, Anne-Marie, Kirby, Emily, Van Etten, William, Twigger, Simon, Roberts, Wendy, Drmic, Irene, Jilderda, Sanne, Modi, Bonnie MacKinnon, Kellam, Barbara, Szego, Michael, Cytrynbaum, Cheryl, Weksberg, Rosanna, Zwaigenbaum, Lonnie, Woodbury-Smith, Marc, Brian, Jessica, Senman, Lili, Iaboni, Alana, Doyle-Thomas, Krissy, Thompson, Ann, Chrysler, Christina, Leef, Jonathan, Savion-Lemieux, Tal, Smith, Isabel M, Liu, Xudong, Nicolson, Rob, Seifer, Vicki, Fedele, Angie, Cook, Edwin H, Dager, Stephen, Estes, Annette, Gallagher, Louise, Malow, Beth A, Parr, Jeremy R, Spence, Sarah J, Vorstman, Jacob, Frey, Brendan J, Robinson, James T, Strug, Lisa J, Fernandez, Bridget A, Elsabbagh, Mayada, Carter, Melissa T, Hallmayer, Joachim, Knoppers, Bartha M, Anagnostou, Evdokia, Szatmari, Peter, Ring, Robert H, Glazer, David, Pletcher, Mathew T, Scherer, Stephen W
Published in Nature neuroscience (01.04.2017)
Published in Nature neuroscience (01.04.2017)
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Genome-wide detection of tandem DNA repeats that are expanded in autism
Trost, Brett, Engchuan, Worrawat, Nguyen, Charlotte M., Thiruvahindrapuram, Bhooma, Dolzhenko, Egor, Backstrom, Ian, Mirceta, Mila, Mojarad, Bahareh A., Yin, Yue, Dov, Alona, Chandrakumar, Induja, Prasolava, Tanya, Shum, Natalie, Hamdan, Omar, Pellecchia, Giovanna, Howe, Jennifer L., Whitney, Joseph, Klee, Eric W., Baheti, Saurabh, Amaral, David G., Anagnostou, Evdokia, Elsabbagh, Mayada, Fernandez, Bridget A., Hoang, Ny, Lewis, M. E. Suzanne, Liu, Xudong, Sjaarda, Calvin, Smith, Isabel M., Szatmari, Peter, Zwaigenbaum, Lonnie, Glazer, David, Hartley, Dean, Stewart, A. Keith, Eberle, Michael A., Sato, Nozomu, Pearson, Christopher E., Scherer, Stephen W., Yuen, Ryan K. C.
Published in Nature (London) (01.10.2020)
Published in Nature (London) (01.10.2020)
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Whole-genome sequencing of quartet families with autism spectrum disorder
Yuen, Ryan K C, Thiruvahindrapuram, Bhooma, Merico, Daniele, Walker, Susan, Tammimies, Kristiina, Hoang, Ny, Chrysler, Christina, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Liu, Yi, Gazzellone, Matthew J, D'Abate, Lia, Deneault, Eric, Howe, Jennifer L, Liu, Richard S C, Thompson, Ann, Zarrei, Mehdi, Uddin, Mohammed, Marshall, Christian R, Ring, Robert H, Zwaigenbaum, Lonnie, Ray, Peter N, Weksberg, Rosanna, Carter, Melissa T, Fernandez, Bridget A, Roberts, Wendy, Szatmari, Peter, Scherer, Stephen W
Published in Nature medicine (01.02.2015)
Published in Nature medicine (01.02.2015)
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Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder
Tammimies, Kristiina, Marshall, Christian R, Walker, Susan, Kaur, Gaganjot, Thiruvahindrapuram, Bhooma, Lionel, Anath C, Yuen, Ryan K. C, Uddin, Mohammed, Roberts, Wendy, Weksberg, Rosanna, Woodbury-Smith, Marc, Zwaigenbaum, Lonnie, Anagnostou, Evdokia, Wang, Zhuozhi, Wei, John, Howe, Jennifer L, Gazzellone, Matthew J, Lau, Lynette, Sung, Wilson W. L, Whitten, Kathy, Vardy, Cathy, Crosbie, Victoria, Tsang, Brian, D’Abate, Lia, Tong, Winnie W. L, Luscombe, Sandra, Doyle, Tyna, Carter, Melissa T, Szatmari, Peter, Stuckless, Susan, Merico, Daniele, Stavropoulos, Dimitri J, Scherer, Stephen W, Fernandez, Bridget A
Published in JAMA : the journal of the American Medical Association (01.09.2015)
Published in JAMA : the journal of the American Medical Association (01.09.2015)
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Chromosome X-wide common variant association study in autism spectrum disorder
Mendes, Marla, Chen, Desmond Zeya, Engchuan, Worrawat, Leal, Thiago Peixoto, Thiruvahindrapuram, Bhooma, Trost, Brett, Howe, Jennifer L., Pellecchia, Giovanna, Nalpathamkalam, Thomas, Alexandrova, Roumiana, Salazar, Nelson Bautista, McKee, Ethan A., Rivera-Alfaro, Natalia, Lai, Meng-Chuan, Bandres-Ciga, Sara, Roshandel, Delnaz, Bradley, Clarrisa A., Anagnostou, Evdokia, Sun, Lei, Scherer, Stephen W.
Published in American journal of human genetics (02.01.2025)
Published in American journal of human genetics (02.01.2025)
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Individual common variants exert weak effects on the risk for autism spectrum disorderspi
ANNEY, Richard, KLEI, Lambertus, BRENNAN, Sean, BRIAN, Jessica, CASEY, Jillian, CONROY, Judith, CORREIA, Catarina, CORSELLO, Christina, CRAWFORD, Emily L, DE JONGE, Maretha, DELORME, Richard, DUKETIS, Eftichia, PINTO, Dalila, DUQUE, Frederico, ESTES, Annette, FARRAR, Penny, FERNANDEZ, Bridget A, FOLSTEIN, Susan E, FOMBONNE, Eric, GILBERT, John, GILLBERG, Christopher, GLESSNER, Joseph T, GREEN, Andrew, ALMEIDA, Joana, GREEN, Jonathan, GUTER, Stephen J, HERON, Elizabeth A, HOLT, Richard, HOWE, Jennifer L, HUGHES, Gillian, HUS, Vanessa, IGLIOZZI, Roberta, JACOB, Suma, KENNY, Graham P, BACCHELLI, Elena, KIM, Cecilia, KOLEVZON, Alexander, KUSTANOVICH, Vlad, LAJONCHERE, Clara M, LAMB, Janine A, LAW-SMITH, Miriam, LEBOYER, Marion, LE COUTEUR, Ann, LEVENTHAL, Bennett L, LIU, Xiao-Qing, BAIRD, Gillian, LOMBARD, Frances, LORD, Catherine, LOTSPEICH, Linda, LUND, Sabata C, MAGALHAES, Tiago R, MANTOULAN, Carine, MCDOUGLE, Christopher J, MELHEM, Nadine M, MERIKANGAS, Alison, MINSHEW, Nancy J, BOLSHAKOVA, Nadia, BÖLTE, Sven, BOLTON, Patrick F, BOURGERON, Thomas
Published in Human molecular genetics (01.11.2012)
Published in Human molecular genetics (01.11.2012)
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Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
Fehlings, Darcy L., Zarrei, Mehdi, Engchuan, Worrawat, Sondheimer, Neal, Thiruvahindrapuram, Bhooma, MacDonald, Jeffrey R., Higginbotham, Edward J., Thapa, Ritesh, Behlim, Tarannum, Aimola, Sabrina, Switzer, Lauren, Ng, Pamela, Wei, John, Danthi, Prakroothi S., Pellecchia, Giovanna, Lamoureux, Sylvia, Ho, Karen, Pereira, Sergio L., de Rijke, Jill, Sung, Wilson W. L., Mowjoodi, Alireza, Howe, Jennifer L., Nalpathamkalam, Thomas, Manshaei, Roozbeh, Ghaffari, Siavash, Whitney, Joseph, Patel, Rohan V., Hamdan, Omar, Shaath, Rulan, Trost, Brett, Knights, Shannon, Samdup, Dawa, McCormick, Anna, Hunt, Carolyn, Kirton, Adam, Kawamura, Anne, Mesterman, Ronit, Gorter, Jan Willem, Dlamini, Nomazulu, Merico, Daniele, Hilali, Murto, Hirschfeld, Kyle, Grover, Kritika, Bautista, Nelson X., Han, Kara, Marshall, Christian R., Yuen, Ryan K. C., Subbarao, Padmaja, Azad, Meghan B., Turvey, Stuart E., Mandhane, Piush, Moraes, Theo J., Simons, Elinor, Maxwell, George, Shevell, Michael, Costain, Gregory, Michaud, Jacques L., Hamdan, Fadi F., Gauthier, Julie, Uguen, Kevin, Stavropoulos, Dimitri J., Wintle, Richard F., Oskoui, Maryam, Scherer, Stephen W.
Published in Nature genetics (01.04.2024)
Published in Nature genetics (01.04.2024)
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Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila
Palacios-Muñoz, Angelina, de Paula Moreira, Danielle, Silva, Valeria, García, Isaac E., Aboitiz, Francisco, Zarrei, Mehdi, Campos, Gabriele, Rennie, Olivia, Howe, Jennifer L., Anagnostou, Evdokia, Ambrozewic, Patricia, Scherer, Stephen W., Passos-Bueno, Maria Rita, Ewer, John
Published in Molecular psychiatry (01.08.2022)
Published in Molecular psychiatry (01.08.2022)
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CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
Pavinato, Lisa, Delle Vedove, Andrea, Carli, Diana, Ferrero, Marta, Carestiato, Silvia, Howe, Jennifer L, Agolini, Emanuele, Coviello, Domenico A, van de Laar, Ingrid, Au, Ping Yee Billie, Di Gregorio, Eleonora, Fabbiani, Alessandra, Croci, Susanna, Mencarelli, Maria Antonietta, Bruno, Lucia P, Renieri, Alessandra, Veltra, Danai, Sofocleous, Christalena, Faivre, Laurence, Mazel, Benoit, Safraou, Hana, Denommé-Pichon, Anne-Sophie, van Slegtenhorst, Marjon A, Giesbertz, Noor, van Jaarsveld, Richard H, Childers, Anna, Rogers, R Curtis, Novelli, Antonio, De Rubeis, Silvia, Buxbaum, Joseph D, Scherer, Stephen W, Ferrero, Giovanni Battista, Wirth, Brunhilde, Brusco, Alfredo
Published in Brain (London, England : 1878) (13.02.2023)
Published in Brain (London, England : 1878) (13.02.2023)
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ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks
Teunissen, Maria W A, Lewerissa, Elly, van Hugte, Eline J H, Wang, Shan, Ockeloen, Charlotte W, Koolen, David A, Pfundt, Rolph, Marcelis, Carlo L M, Brilstra, Eva, Howe, Jennifer L, Scherer, Stephen W, Le Guillou, Xavier, Bilan, Frédéric, Primiano, Michelle, Roohi, Jasmin, Piton, Amelie, de Saint Martin, Anne, Baer, Sarah, Seiffert, Simone, Platzer, Konrad, Jamra, Rami Abou, Syrbe, Steffen, Doering, Jan H, Lakhani, Shenela, Nangia, Srishti, Gilissen, Christian, Vermeulen, R Jeroen, Rouhl, Rob P W, Brunner, Han G, Willemsen, Marjolein H, Nadif Kasri, Nael
Published in Human molecular genetics (04.07.2023)
Published in Human molecular genetics (04.07.2023)
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Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus
Scala, Marcello, Bradley, Clarrisa A., Howe, Jennifer L., Trost, Brett, Salazar, Nelson Bautista, Shum, Carole, Mendes, Marla, Reuter, Miriam S., Anagnostou, Evdokia, MacDonald, Jeffrey R., Ko, Sangyoon Y., Frankland, Paul W., Charlebois, Jessica, Elsabbagh, Mayada, Granger, Leslie, Anadiotis, George, Pullano, Verdiana, Brusco, Alfredo, Keller, Roberto, Parisotto, Sarah, Pedro, Helio F., Lusk, Laina, McDonnell, Pamela Pojomovsky, Helbig, Ingo, Mullegama, Sureni V., Douine, Emilie D., Corona, Rosario Ivetth, Russell, Bianca E., Nelson, Stanley F., Graziano, Claudio, Schwab, Maria, Simone, Laurie, Zara, Federico, Scherer, Stephen W.
Published in American journal of human genetics (02.01.2025)
Published in American journal of human genetics (02.01.2025)
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