檢索結果 - Howe, Jennifer

Utilization of preventive care services and their effect on cardiovascular outcomes in the United States 由 Vaidya, Varun, Partha, Gautam, Howe, Jennifer

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Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions 由 Yusuf, Afiqah, Peltekova, Iskra, Savion‐Lemieux, Tal, Frei, Jennifer, Joober, Ridha, Howe, Jennifer, Scherer, Stephen W., Elsabbagh, Mayada

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Predictors of empowerment in parents of children with autism and related neurodevelopmental disorders who are undergoing genetic testing 由 Peltekova, Iskra, Yusuf, Afiqah, Frei, Jennifer, Savion‐Lemieux, Tal, Joober, Ridha, Howe, Jennifer, Scherer, Stephen W., Elsabbagh, Mayada

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Association between distress and knowledge among parents of autistic children 由 Yusuf, Afiqah, Peltekova, Iskra, Savion-Lemieux, Tal, Frei, Jennifer, Bruno, Ruth, Joober, Ridha, Howe, Jennifer, Scherer, Stephen W., Elsabbagh, Mayada

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Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes 由 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.

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Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants 由 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.

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A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees 由 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

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Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly 由 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.

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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 由 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

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CNTN5(-)(/+)or EHMT2(-)(/+)human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks 由 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

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Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons 由 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.

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Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons 由 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.

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Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation 由 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

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Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency 由 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.

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RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes 由 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

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A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder 由 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.

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Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing 由 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.

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Genome-wide detection of tandem DNA repeats expanded in autism 由 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.

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Genome-wide characteristics of de novo mutations in autism 由 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

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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments 由 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

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