Resultats de la cerca - Howe, Jennifer
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Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions per Yusuf, Afiqah, Peltekova, Iskra, Savion‐Lemieux, Tal, Frei, Jennifer, Joober, Ridha, Howe, Jennifer, Scherer, Stephen W., Elsabbagh, Mayada
Publicat 2020Text -
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Predictors of empowerment in parents of children with autism and related neurodevelopmental disorders who are undergoing genetic testing per Peltekova, Iskra, Yusuf, Afiqah, Frei, Jennifer, Savion‐Lemieux, Tal, Joober, Ridha, Howe, Jennifer, Scherer, Stephen W., Elsabbagh, Mayada
Publicat 2021Text -
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Association between distress and knowledge among parents of autistic children per Yusuf, Afiqah, Peltekova, Iskra, Savion-Lemieux, Tal, Frei, Jennifer, Bruno, Ruth, Joober, Ridha, Howe, Jennifer, Scherer, Stephen W., Elsabbagh, Mayada
Publicat 2019Text -
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Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes per Woodbury-Smith, Marc, Nicolson, Rob, Zarrei, Mehdi, Yuen, Ryan K. C., Walker, Susan, Howe, Jennifer, Uddin, Mohammed, Hoang, Ny, Buchanan, Janet A., Chrysler, Christina, Thompson, Ann, Szatmari, Peter, Scherer, Stephen W.
Publicat 2017Text -
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Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants per 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.
Publicat 2022Text -
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A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees per 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
Publicat 2018Text -
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Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly per 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.
Publicat 2017Text -
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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 per 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
Publicat 2021Text -
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CNTN5(-)(/+)or EHMT2(-)(/+)human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks per 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
Publicat 2019Text -
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Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons per 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.
Publicat 2018Text -
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Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons per 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.
Publicat 2019Text -
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Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation per Hildebrandt, Matthew R., Reuter, Miriam S., Wei, Wei, Tayebi, Naeimeh, Liu, Jiajie, Sharmin, Sazia, Mulder, Jaap, Lesperance, L. Stephen, Brauer, Patrick M., Mok, Rebecca S.F., Kinnear, Caroline, Piekna, Alina, Romm, Asli, Howe, Jennifer, Pasceri, Peter, Meng, Guoliang, Rozycki, Matthew, Rodrigues, Deivid C., Martinez, Elisa C., Szego, Michael J., Zúñiga-Pflücker, Juan C., Anderson, Michele K., Prescott, Steven A., Rosenblum, Norman D., Kamath, Binita M., Mital, Seema, Scherer, Stephen W., Ellis, James
Publicat 2019Text -
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Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency per Gofin, Yoel, Wang, Tianyun, Gillentine, Madelyn A., Scott, Tiana M., Berry, Aliska M., Azamian, Mahshid S., Genetti, Casie, Agrawal, Pankaj B., Picker, Jonathan, Wojcik, Monica H., Delgado, Mauricio R., Lynch, Sally Ann, Scherer, Stephen W., Howe, Jennifer L., Bacino, Carlos A., DiTroia, Stephanie, VanNoy, Grace E., O’Donnell-Luria, Anne, Lalani, Seema R., Graf, William D., Rosenfeld, Jill A., Eichler, Evan E., Earl, Rachel K., Scott, Daryl A.
Publicat 2022Text -
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RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes per Brownstein, Catherine A., Smith, Richard S., Rodan, Lance H., Gorman, Mark P., Hojlo, Margaret A., Garvey, Emily A., Li, Jianqiao, Cabral, Kristin, Bowen, Joshua J., Rao, Abhijit S., Genetti, Casie A., Carroll, Devon, Deaso, Emma A., Agrawal, Pankaj B., Rosenfeld, Jill A., Bi, Weimin, Howe, Jennifer, Stavropoulos, Dimitri J., Hansen, Adam W., Hamoda, Hesham M., Pinard, Ferne, Caracansi, Annmarie, Walsh, Christopher A., D’Angelo, Eugene J., Beggs, Alan H., Zarrei, Mehdi, Gibbs, Richard A., Scherer, Stephen W., Glahn, David C., Gonzalez-Heydrich, Joseph
Publicat 2021Text -
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A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder per Loureiro, Livia O., Howe, Jennifer L., Reuter, Miriam S., Iaboni, Alana, Calli, Kristina, Roshandel, Delnaz, Pritišanac, Iva, Moses, Alan, Forman-Kay, Julie D., Trost, Brett, Zarrei, Mehdi, Rennie, Olivia, Lau, Lynette Y. S., Marshall, Christian R., Srivastava, Siddharth, Godlewski, Brianna, Buttermore, Elizabeth D., Sahin, Mustafa, Hartley, Dean, Frazier, Thomas, Vorstman, Jacob, Georgiades, Stelios, Lewis, Suzanne M. E., Szatmari, Peter, Bradley, Clarrisa A. (Lisa), Tabet, Anne-Claude, Willems, Marjolaine, Lumbroso, Serge, Piton, Amélie, Lespinasse, James, Delorme, Richard, Bourgeron, Thomas, Anagnostou, Evdokia, Scherer, Stephen W.
Publicat 2021Text -
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Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing per 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.
Publicat 2013Text -
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Genome-wide detection of tandem DNA repeats expanded in autism per 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, Suzanne Lewis, M. E., 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.
Publicat 2020Text -
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Genome-wide characteristics of de novo mutations in autism per Yuen, Ryan KC, Merico, Daniele, Cao, Hongzhi, Pellecchia, Giovanna, Alipanahi, Babak, Thiruvahindrapuram, Bhooma, Tong, Xin, Sun, Yuhui, Cao, Dandan, Zhang, Tao, Wu, Xueli, Jin, Xin, Zhou, Ze, Liu, Xiaomin, Nalpathamkalam, Thomas, Walker, Susan, Howe, Jennifer L, Wang, Zhuozhi, MacDonald, Jeffrey R, Chan, Ada JS, D’Abate, Lia, Deneault, Eric, Siu, Michelle T, Tammimies, Kristiina, Uddin, Mohammed, Zarrei, Mehdi, Wang, Mingbang, Li, Yingrui, Wang, Jun, Wang, Jian, Yang, Huanming, Bookman, Matt, Bingham, Jonathan, Gross, Samuel S, Loy, Dion, Pletcher, Mathew, Marshall, Christian R, Anagnostou, Evdokia, Zwaigenbaum, Lonnie, Weksberg, Rosanna, Fernandez, Bridget A, Roberts, Wendy, Szatmari, Peter, Glazer, David, Frey, Brendan J, Ring, Robert H, Xu, Xun, Scherer, Stephen W
Publicat 2016Text -
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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments per Leblond, Claire S., Nava, Caroline, Polge, Anne, Gauthier, Julie, Huguet, Guillaume, Lumbroso, Serge, Giuliano, Fabienne, Stordeur, Coline, Depienne, Christel, Mouzat, Kevin, Pinto, Dalila, Howe, Jennifer, Lemière, Nathalie, Durand, Christelle M., Guibert, Jessica, Ey, Elodie, Toro, Roberto, Peyre, Hugo, Mathieu, Alexandre, Amsellem, Frédérique, Rastam, Maria, Gillberg, I. Carina, Rappold, Gudrun A., Holt, Richard, Monaco, Anthony P., Maestrini, Elena, Galan, Pilar, Heron, Delphine, Jacquette, Aurélia, Afenjar, Alexandra, Rastetter, Agnès, Brice, Alexis, Devillard, Françoise, Assouline, Brigitte, Laffargue, Fanny, Lespinasse, James, Chiesa, Jean, Rivier, François, Bonneau, Dominique, Regnault, Beatrice, Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Sanlaville, Damien, Schluth-Bolard, Caroline, Edery, Patrick, Perrin, Laurence, Tabet, Anne Claude, Schmeisser, Michael J., Boeckers, Tobias M., Coleman, Mary, Sato, Daisuke, Szatmari, Peter, Scherer, Stephen W., Rouleau, Guy A., Betancur, Catalina, Leboyer, Marion, Gillberg, Christopher, Delorme, Richard, Bourgeron, Thomas
Publicat 2014Text