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Kong, Sek Won, Collins, Christin D, Shimizu-Motohashi, Yuko, Holm, Ingrid A, Campbell, Malcolm G, Lee, In-Hee, Brewster, Stephanie J, Hanson, Ellen, Harris, Heather K, Lowe, Kathryn R, Saada, Adrianna, Mora, Andrea, Madison, Kimberly, Hundley, Rachel, Egan, Jessica, McCarthy, Jillian, Eran, Ally, Galdzicki, Michal, Rappaport, Leonard, Kunkel, Louis M, Kohane, Isaac S
Published in PloS one (05.12.2012)
Published in PloS one (05.12.2012)
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Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children's Hospital Gene Partnership Informed Cohort Oversight Board
Holm, Ingrid A, Savage, Sarah K, Green, Robert C, Juengst, Eric, McGuire, Amy, Kornetsky, Susan, Brewster, Stephanie J, Joffe, Steven, Taylor, Patrick
Published in Genetics in medicine (01.07.2014)
Published in Genetics in medicine (01.07.2014)
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Investigating Potential Biomarkers in Autism Spectrum Disorder
Bridgemohan, Carolyn, Cochran, David M, Howe, Yamini J, Pawlowski, Katherine, Zimmerman, Andrew W, Anderson, George M, Choueiri, Roula, Sices, Laura, Miller, Karen J, Ultmann, Monica, Helt, Jessica, Forbes, Peter W, Farfel, Laura, Brewster, Stephanie J, Frazier, Jean A, Neumeyer, Ann M
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A Genome-Wide Scan for Linkage to Human Exceptional Longevity Identifies a Locus on Chromosome 4
Puca, Annibale A., Daly, Mark J., Brewster, Stephanie J., Matise, Tara C., Barrett, Jeffrey, Shea-Drinkwater, Maureen, Kang, Sammy, Joyce, Erin, Nicoli, Julie, Benson, Erica, Kunkel, Louis M., Perls, Thomas
Published in Proceedings of the National Academy of Sciences - PNAS (28.08.2001)
Published in Proceedings of the National Academy of Sciences - PNAS (28.08.2001)
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Haplotype-Based Identification of a Microsomal Transfer Protein Marker Associated with the Human Lifespan
Geesaman, Bard J., Benson, Erica, Brewster, Stephanie J., Kunkel, Louis M., Blanché, Hélène, Thomas, Gilles, Perls, Thomas T., Daly, Mark J., Puca, Annibale A.
Published in Proceedings of the National Academy of Sciences - PNAS (25.11.2003)
Published in Proceedings of the National Academy of Sciences - PNAS (25.11.2003)
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Persistence of Autism Spectrum Disorder From Early Childhood Through School Age
Harstad, Elizabeth, Hanson, Ellen, Brewster, Stephanie J, DePillis, Rafael, Milliken, Anna L, Aberbach, Gabriella, Sideridis, Georgios, Barbaresi, William J
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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P, Gillentine, Madelyn A, Wilfert, Amy B, Perez-Jurado, Luis A, Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K, Rosenfeld, Jill A, Geisheker, Madeleine R, Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E, Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Bernardina, Bernardo Dalla, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette J V, Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J, Manning, Melanie A, Liu, Pengfei, Scheffer, Ingrid E, Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G, Santen, Gijs W E, Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J, Pierce, Karen, Courchesne, Eric, Kooy, R Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A, Gecz, Jozef, Xia, Kun, Eichler, Evan E
Published in Nature communications (01.10.2020)
Published in Nature communications (01.10.2020)
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Diverse clinical presentation of SPTBN1 variants: Complex versus primary attention-deficit/hyperactivity disorder
O'Connell, Mia, Harstad, Elizabeth, Aites, Jennifer, Hayes, Katheryn, Arnett, Anne B, Scotellaro, Julia, Patel, Soleha, Brewster, Stephanie J, Barbaresi, William, Doan, Ryan N
Published in American journal of medical genetics. Part A (20.08.2024)
Published in American journal of medical genetics. Part A (20.08.2024)
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Response to Recent Commentary
Bridgemohan, Carolyn, Brewster, Stephanie J, Frazier, Jean A, Neumeyer, Ann M, Sices, Laura
Published in Journal of developmental and behavioral pediatrics (01.02.2018)
Published in Journal of developmental and behavioral pediatrics (01.02.2018)
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2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling
Doyle, Debra Lochner, Awwad, Rawan I., Austin, Jehannine C., Baty, Bonnie J., Bergner, Amanda L., Brewster, Stephanie J., Erby, Lori A. H., Franklin, Cathi Rubin, Greb, Anne E., Grubs, Robin E., Hooker, Gillian W., Noblin, Sarah Jane, Ormond, Kelly E., Palmer, Christina G., Petty, Elizabeth M., Singletary, Claire N., Thomas, Matthew J., Toriello, Helga, Walton, Carol S., Uhlmann, Wendy R.
Published in Journal of genetic counseling (01.10.2016)
Published in Journal of genetic counseling (01.10.2016)
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Feasibility of Conducting Autism Biomarker Research in the Clinical Setting
Sices, Laura, Pawlowski, Katherine, Farfel, Laura, Phillips, Deirdre, Howe, Yamini, Cochran, David M, Choueiri, Roula, Forbes, Peter W, Brewster, Stephanie J, Frazier, Jean A, Neumeyer, Ann, Bridgemohan, Carolyn
Published in Journal of developmental and behavioral pediatrics (01.09.2017)
Published in Journal of developmental and behavioral pediatrics (01.09.2017)
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Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients"
Eran, Alal, Graham, Kaitlin R, Vatalaro, Kayla, McCarthy, Jillian, Collins, Christin, Peters, Heather, Brewster, Stephanie J, Hanson, Ellen, Hundley, Rachel, Rappaport, Leonard, Holm, Ingrid A, Kohane, Isaac S, Kunkel, Louis M
Published in The Journal of clinical investigation (01.04.2009)
Published in The Journal of clinical investigation (01.04.2009)
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Exceptional familial clustering for extreme longevity in humans
Perls, T, Shea-Drinkwater, M, Bowen-Flynn, J, Ridge, S B, Kang, S, Joyce, E, Daly, M, Brewster, S J, Kunkel, L, Puca, A A
Published in Journal of the American Geriatrics Society (JAGS) (01.11.2000)
Published in Journal of the American Geriatrics Society (JAGS) (01.11.2000)
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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
Zhou, Xueya, Feliciano, Pamela, Shu, Chang, Wang, Tianyun, Astrovskaya, Irina, Hall, Jacob B, Obiajulu, Joseph U, Wright, Jessica R, Murali, Shwetha C, Xu, Simon Xuming, Brueggeman, Leo, Thomas, Taylor R, Marchenko, Olena, Fleisch, Christopher, Barns, Sarah D, Snyder, LeeAnne Green, Han, Bing, Chang, Timothy S, Turner, Tychele N, Harvey, William T, Nishida, Andrew, O'Roak, Brian J, Geschwind, Daniel H, Michaelson, Jacob J, Volfovsky, Natalia, Eichler, Evan E, Shen, Yufeng, Chung, Wendy K
Published in Nature genetics (01.09.2022)
Published in Nature genetics (01.09.2022)
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SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research
Feliciano, Pamela, Daniels, Amy M., Esler, Amy, Gutierrez, Anibal, Nicholson, Amy, Stephens, Alexandra N., Stedman, Amy, Finucane, Brenda, O’Roak, Brian J., Robertson, Beverly E., Rodriguez, Barbara, Van Metre, Bonnie, Bradley, Catherine, Erickson, Craig A., Harkins, Christina, Ochoa-Lubinoff, Cesar, Rosenberg, Cordelia R., Smith, Christopher J., Taylor, Cora M., White, Loran Casey, Walston, Corrie H., Amaral, David G., Coury, Daniel Lee, Sarver, Dustin E., Li, Deana, Berry-Kravis, Elizabeth, Fombonne, Eric J., Hofammann, Eugenia, Wodka, Ericka L., O’Connor, Eirene, Miller, Fiona, Stein, Gail, Hutter, Hanna, Li, Hai, Lechniak, Holly, Schneider, Hoa Lam, Zaydens, Hana, Arriaga, Ivette, Cubells, Joseph F., Cordova, Jeanette M., Gunderson, Jaclyn, McCracken, James T., Michaelson, Jacob J., Neely, Jason, Orobio, Jessica, Piven, Joseph, Tjernagel, Jennifer, Dent, Katherine, Schweers, Kathryn A., Law, J. Kiely, Lowe, Kathryn, O’Brien, Kaela, Smith, Kaitlin, Pawlowski, Katherine G., Pierce, Karen L., Roeder, Katherine, Coppola, Leigh A., Carpenter, Laura, Huang-Storms, Lark Y., Herbert, Lynette M., Simon, Laura, Soorya, Latha V., Wasserburg, Lucy, Lazar, Maya, Currin, Mary Hannah, Heyman, Michelle, Jones, Mark, Jordy, Michelle, Sahin, Mustafa, Siegel, Matthew S., Yinger, Meredith, Hanna, Nathan, Juarez, A. Pablo, Remington, Rick, Schultz, Robert T., Carpenter, Sarah, Eldred, Sara, Francis, Sunday, Horner, Susannah, Lee, Soo J., Mastel, Sarah A., Myers, Vincent J., Amatya, Alpha, Chatha, Ahmad S., Lash, Alex E., Ridenour, Curtis, Stock, Colleen M., Schmidt, Danielle, Butler, Martin E., Carriero, Nicholas, Volfovsky, Natalia, Edgar, Ron, Chin, Wubin, Jensen, William, Krentz, Anthony D., Astrovskaya, Irina, Gibbs, Richard A., Han, Xinwei, Shen, Yufeng, Reichardt, Louis F.
Published in Neuron (Cambridge, Mass.) (07.02.2018)
Published in Neuron (Cambridge, Mass.) (07.02.2018)
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Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort
Fombonne, Eric, Green Snyder, LeeAnne, Daniels, Amy, Feliciano, Pamela, Chung, Wendy
Published in Journal of autism and developmental disorders (01.10.2020)
Published in Journal of autism and developmental disorders (01.10.2020)
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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Gillentine, Madelyn A, Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N, De Vries, Bert B A, Vissers, Lisenka E L M, Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Srivastava, Siddharth, Atwal, Paldeep, Bacino, Carlos A, Bhat, Gifty, Cobian, Katherine, Bird, Lynne M, Friedman, Jennifer, Wright, Meredith S, Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Christensen, Celenie K, White, Kerry M, Elpeleg, Orly, Berger, Itai, Espineli, Edward J, Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Benman, L Manace, Mckee, Shane, Mirzaa, Ghayda M, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen E H, van Gassen, Koen L I, Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, Earl, Rachel K, Nowakowski, Tomasz, Bernier, Raphael A, Eichler, Evan E
Published in Genome medicine (19.04.2021)
Published in Genome medicine (19.04.2021)
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Clinical genetic testing for patients with autism spectrum disorders
Shen, Yiping, Dies, Kira A, Holm, Ingrid A, Bridgemohan, Carolyn, Sobeih, Magdi M, Caronna, Elizabeth B, Miller, Karen J, Frazier, Jean A, Silverstein, Iris, Picker, Jonathan, Weissman, Laura, Raffalli, Peter, Jeste, Shafali, Demmer, Laurie A, Peters, Heather K, Brewster, Stephanie J, Kowalczyk, Sara J, Rosen-Sheidley, Beth, McGowan, Caroline, Duda, 3rd, Andrew W, Lincoln, Sharyn A, Lowe, Kathryn R, Schonwald, Alison, Robbins, Michael, Hisama, Fuki, Wolff, Robert, Becker, Ronald, Nasir, Ramzi, Urion, David K, Milunsky, Jeff M, Rappaport, Leonard, Gusella, James F, Walsh, Christopher A, Wu, Bai-Lin, Miller, David T
Published in Pediatrics (Evanston) (01.04.2010)
Published in Pediatrics (Evanston) (01.04.2010)
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Beliefs in vaccine as causes of autism among SPARK cohort caregivers
Fombonne, Eric, Abbeduto, Leonard, Albright, Charles, Amaral, David G., Amatya, Alpha, Bahl, Ethan, Baraghoshi, Gabrielle, Bernier, Raphael A., Brewster, Stephanie J., Brown, Melissa, Brueggeman, Leo, Butler, Martin E., Camba, Alexies, Carpenter, Laura, Carriero, Nicholas, Cartner, Lindsey A., Chatha, Ahmad S., Chintalapalli, Sharmista, Cohen, Cheryl, Columbi, Costanza, Cubells, Joseph F., Hannah Currin, Mary, David, Giancarla, Dennis, Megan Y., Ding, Yan, Eichler, Evan E., Fatemi, Ali, Fischer, Gregory, Fombonne, Eric J., Garrett, Michael, Gazestani, Vahid, Geisheker, Madeleine R., Gibbs, Richard A., Gruber, Angela J., Gulsrud, Amanda C., Haley, Monica, Han, Bing, Hanna, Nathan, Harris, Nina, Heerwagen, Kathryn, Hepburn, Susan L., Higgins, Lorrin, Hojlo, Margaret, Horner, Susannah, Hunter, Samantha, Istephanous, Dalia, Jaramillo, Nancy, Jelinek, Anna, Jurayj, Jane, Kanne, Stephen, Kaplan, Hannah E., Lash, Alex E., Lawson, Noah, Layman, Kevin, Lechniak, Holly, Lee, Sandra, Lee, Soo J., Manning, Patricia, Marzano, Gabriela, Mastel, Sarah, Matthews, Emily T., McCracken, James T., Miceli, Alexandra, Michaelson, Jacob J., Momin, Zeineen, O'Neil, Molly, O'Roak, Brian J., Pacheco, Lillian D., Palmer, Samiza, Pandey, Juhi, Marie Paolicelli, Anna, Piven, Joseph, Qiu, Shanping, Rajbhandari, Kshitij, Rodriguez, Nicki, Russo-Ponsaran, Nicole, Ruzzo, Elizabeth, Salomatov, Andrei, Sandhu, Sophia, Sarver, Dustin E., Schultz, Robert T., Siegel, Matthew, Simon, Laura, Smith, Christopher J., Stephens, Alexandra N., Sullivan, Catherine, Takahashi, Nicole, Taylor, Cora, Thompson, Samantha, Turner, Tychele N., Van Metre, Bonnie, Veenstra-Vanderweele, Jeremy, Walston, Corrie H., Wang, Jiayao, Warren, Zachary, Casey White-Lehman, L., Wodka, Ericka L., Yinger, Meredith, Zang, Lan, Zhao, Haoquan
Published in Vaccine (11.02.2020)
Published in Vaccine (11.02.2020)
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