Search Results - "SPARK Consortium"

P199: Frequency of secondary findings and returning these results by self-reported race/ethnicity in SPARK

Sarah Barns, Jessica Wright, Alexandra Goler, Jacob Hall, Irina Astrovskaya, Bing Han, SPARK Consortium, Natalia Volfovsky, Aaron Wong, Pamela Feliciano, Wendy Chung

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P187: Consent frequency for genetic participation and receiving genetic results in White and non-White participants in SPARK

Alexandra Goler, Jessica Wright, Sarah Barns, Jacob Hall, Bing Han, Irina Astrovskaya, SPARK Consortium, Natalia Volfovsky, Aaron Wong, Pamela Feliciano, Wendy Chung

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Effectiveness of multimodal participant recruitment in SPARK, a large, online longitudinal research study of autism

Amy M. Daniels, J. Kiely Law, LeeAnne Green Snyder, Katharine Diehl, Robin P. Goin-Kochel, Pamela Feliciano, Wendy K. Chung, SPARK Consortium

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Evidence-based recruitment strategies for clinical research: Study personnel’s and research participants’ perceptions about successful methods of outreach for a U.S. Autism-Research Cohort

Robin P. Goin-Kochel, Ivana Lozano, Gabrielle Duhon, Gabriela Marzano, Amy Daniels, J. Kiely Law, Katharine Diehl, LeeAnne Green Snyder, Pamela Feliciano, Wendy K. Chung, SPARK Consortium

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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gecz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celenie K. Christensen, Kerry M. White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, Frank Kooy, Marije Meuwissen, Alice Basinger, Mary Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond-Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez-Rangel, Paul Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie Vento, Divya Vats, L. Manace Benman, Shane Mckee, Ghayda M. Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen E. H. Simon, Koen L. I. van Gassen, Kara Simpson, Robert Stratton, Sabeen Syed, Julien Thevenon, Irene Valenzuela Palafoll, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, SPARK Consortium, Rachel K. Earl, Tomasz Nowakowski, Raphael A. Bernier, Evan E. Eichler

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders

The SPARK Consortium, Wang, Tianyun, Kim, Chang N., Bakken, Trygve E., Gillentine, Madelyn A., Henning, Barbara, Mao, Yafei, Gilissen, Christian, Nowakowski, Tomasz J., Eichler, Evan E.

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 BA, Vissers, Lisenka ELM, 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, CAUSES Study, 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 EH, van Gassen, Koen LI, Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, SPARK Consortium, Earl, Rachel K, Nowakowski, Tomasz, Bernier, Raphael A, Eichler, Evan E

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SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research.

SPARK Consortium. Electronic address: pfeliciano@simonsfoundation.org, SPARK Consortium

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Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

Feliciano, Pamela^Aff1, Zhou, Xueya, Astrovskaya, Irina, Turner, Tychele N., Wang, Tianyun, Brueggeman, Leo, Barnard, Rebecca, Hsieh, Alexander, Snyder, LeeAnne Green, Muzny, Donna M., Sabo, Aniko, The SPARK Consortium, Gibbs, Richard A., Eichler, Evan E.^{Aff3, Aff7}, O’Roak, Brian J., Michaelson, Jacob J., Volfovsky, Natalia, Shen, Yufeng, Chung, Wendy K.^{Aff1, Aff8}

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