Integrating de novo and inherited variants in over 42,607 autism cases identifies mutations in new moderate risk genes

Autor: Tianyun Wang, Jessica Wright, Natalia Volfovsky, Simon Xuming Xu, Brian J. O'Roak, Christopher Fleisch, Leo Brueggeman, LeeAnne Green Snyder, Evan E. Eichler, Sarah D. Barns, Olena Marchenko, Wendy K. Chung, Shwetha C. Murali, Joseph U. Obiajulu, Xueya Zhou, Jacob B. Hall, William T. Harvey, Jacob J. Michaelson, Timothy S. Chang, Daniel H. Geschwind, Irina Astrovskaya, Pamela Feliciano, Bing Han, Andrew Nishida, Chang Shu, Taylor R. Thomas, Yufeng Shen, Tychele N. Turner

Despite the known heritable nature of autism spectrum disorder (ASD), studies have primarily identified risk genes with de novo variants (DNVs). To capture the full spectrum of ASD genetic risk, we performed a two-stage analysis of rare de novo and i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::57bbda70b96aededbabea20ebf74af08
https://doi.org/10.1101/2021.10.08.21264256

Accuracy of administratively-assigned ancestry for diverse populations in an electronic medical record-linked biobank.

Autor: Jacob B Hall, Logan Dumitrescu, Holli H Dilks, Dana C Crawford, William S Bush

Publikováno v: PLoS ONE, Vol 9, Iss 6, p e99161 (2014)

Recently, the development of biobanks linked to electronic medical records has presented new opportunities for genetic and epidemiological research. Studies based on these resources, however, present unique challenges, including the accurate assignme

Externí odkaz: https://doaj.org/article/0c206e677497424f810610f46977a334

Beliefs in vaccine as causes of autism among SPARK cohort caregivers

Autor: Eric Fombonne, Robin P. Goin-Kochel, Brian J. O'Roak, Leonard Abbeduto, Gabriella Aberbach, John Acampado, Andrea J. Ace, Charles Albright, Michael Alessandri, David G. Amaral, Alpha Amatya, Claudine Anglo, Robert D. Annett, Ivette Arriaga, Raven Ashley, Irina Astrovskaya, Kelly Baalman, Melissa Baer, Ethan Bahl, Adithya Balasubramanian, Gabrielle Baraghoshi, Nicole Bardett, Rebecca A. Barnard, Asif Bashar, Arthur Beaudet, Malia Beckwith, Landon Beeson, Dawn Bentley, Raphael A. Bernier, Elizabeth Berry-Kravis, Sarah Boland, Stephanie Booker, Catherine Bradley, Stephanie J. Brewster, Elizabeth Brooks, Melissa Brown, Leo Brueggeman, Martin E. Butler, Eric M. Butter, Kristen Callahan, Alexies Camba, Paul Carbone, Laura Carpenter, Sarah Carpenter, Nicholas Carriero, Lindsey A. Cartner, Lucas Casten, Ahmad S. Chatha, Wubin Chin, Sharmista Chintalapalli, Daniel Cho, Wendy K. Chung, Renee D. Clark, Cheryl Cohen, Kendra Coleman, Costanza Columbi, Leigh Coppola, Eric Courchesne, Joseph F. Cubells, Mary Hannah Currin, Amy M. Daniels, Giancarla David, Lindsey DeMarco, Megan Y. Dennis, Kate Dent, Gabriel S. Dichter, Yan Ding, Huyen Dinh, Ryan Doan, HarshaVardhan Doddapaneni, Evan E. Eichler, Sara Eldred, Christine Eng, Craig A. Erickson, Amy Esler, Ali Fatemi, Pamela Feliciano, Gregory Fischer, Angela Fish, Ian Fisk, Eric J. Fombonne, Margaret Foster, Emily A. Fox, Sunday Francis, Sandra L. Friedman, Swami Ganesan, Michael Garrett, Vahid Gazestani, Madeleine R. Geisheker, Jennifer A. Gerdts, Daniel H. Geschwind, Mohammad Ghaziuddin, Richard A. Gibbs, Natalia Gonzalez, Lindsey Goudreau, Anthony J. Griswold, Luke P. Grosvenor, Angela J. Gruber, Amanda C. Gulsrud, Jaclyn Gunderson, Chris Gunter, Abha Gupta, Anibal Gutierrez, Melissa N. Hale, Monica Haley, Jacob B. Hall, Kira E. Hamer, Bing Han, Nathan Hanna, Antonio Hardan, Christina Harkins, Gloria Harrington, Jill Harris, Nina Harris, Brenda Hauf, Caitlin Hayes, Kathryn Heerwagen, Susan L. Hepburn, Lynette M. Herbert, Michelle Heyman, Lorrin Higgins, Brittani A. Hilscher, Eugenia Hofammann, Margaret Hojlo, Susannah Horner, Alexander Hsieh, Jianhong Hu, Lark Y. Huang-Storms, Samantha Hunter, Hanna Hutter, Dalia Istephanous, Suma Jacob, Nancy Jaramillo, Anna Jelinek, William Jensen, Mark Jones, Michelle Jordy, Alissa Jorgenson, Roger Jou, A. Pablo Juarez, Jessyca Judge, Jane Jurayj, Taylor Kalmus, Stephen Kanne, Hannah E. Kaplan, Lauren Kasparson, Matt Kent, So Hyun Kim, Alex Kitaygorodsky, Hope Koene, Tanner Koomar, Viktoriya Korchina, Anthony D. Krentz, Hoa Lam Schneider, Elena Lamarche, Erica Lampert, Rebecca J. Landa, Alex E. Lash, J. Kiely Law, Noah Lawson, Kevin Layman, Holly Lechniak, Sandra Lee, Soo J. Lee, Daniel Lee Coury, Christa Lese Martin, Laurie Lesher, Hai Li, Deana Li, Natasha Lillie, Xiuping Liu, Marilyn Lopez, Catherine Lord, Kathryn Lowe, Malcolm D. Mallardi, Patricia Manning, Julie Manoharan, Richard Marini, Christa Martin, Gabriela Marzano, Andrew Mason, Sarah Mastel, Emily T. Matthews, James T. McCracken, Alexander P. McKenzie, Alexandra Miceli, Jacob J. Michaelson, Anna Milliken, Sarah Mohiuddin, Zeineen Momin, Michael J. Morrier, Stewart Mostofsky, Shwetha Murali, Donna Muzny, Vincent J. Myers, Jason Neely, Caitlin Nessner, Amy Nicholson, Melanie Niederhouser, Kaela O'Brien, Eirene O'Connor, Molly O'Neil, Cesar Ochoa-Lubinoff, Jessica Orobio, Libby Orrick, Crissy Ortiz, Opal Y. Ousley, Lillian D. Pacheco, Samiza Palmer, Juhi Pandey, Anna Marie Paolicelli, Katherine G. Pawlowski, Karen L. Pierce, Joseph Piven, Samantha Plate, Jose Polanco, Marc Popp, Natalie Pottschmidt, Tiziano Pramparo, Lisa M. Prock, Hongjian Qi, Shanping Qiu, Angela L. Rachubinski, Kshitij Rajbhandari, Rishiraj Rana, Vai Ranganathan, Laurie Raymond, Rick Remington, Catherine E. Rice, Chris Rigby, Beverly E. Robertson, Nicki Rodriguez, Barbara Rodriguez, Katherine Roeder, Cordelia R. Rosenberg, Nicole Russo-Ponsaran, Elizabeth Ruzzo, Aniko Sabo, Mustafa Sahin, Andrei Salomatov, Sophia Sandhu, Susan Santangelo, Dustin E. Sarver, Jessica Scherr, Robert T. Schultz, Kathryn A. Schweers, Rebecca Shaffer, Swapnil Shah, Tamim Shaikh, Yufeng Shen, Amanda D. Shocklee, Lisa Shulman, Matthew Siegel, Andrea R. Simon, Laura Simon, Vini Singh, Steve Skinner, Christopher J. Smith, Kaitlin Smith, LeeAnne G. Snyder, Latha V. Soorya, Aubrie Soucy, Danielle Stamps, Morgan Steele, Alexandra N. Stephens, Colleen M. Stock, Catherine Sullivan, James S. Sutcliffe, Amy Swanson, Maira Tafolla, Nicole Takahashi, Cora Taylor, Carrie Thomas, Taylor Thomas, Samantha Thompson, Jennifer Tjernagel, Tychele N. Turner, Maria Valicenti-McDermott, Bonnie Van Metre, Candace Van Wade, Jeremy Veenstra-Vanderweele, Mary Verdi, Brianna M. Vernoia, Natalia Volfovsky, Jermel Wallace, Corrie H. Walston, Jiayao Wang, Tianyun Wang, Zachary Warren, Lucy Wasserburg, Sabrina White, L. Casey White-Lehman, Ericka L. Wodka, Simon Xu, Wha S. Yang, Meredith Yinger, Sarah Youngkin, Timothy Yu, Lan Zang, Hana Zaydens, Haicang Zhang, Haoquan Zhao, Xueya Zhou, Allyson Zick

Publikováno v: Vaccine. 38(7)

Background Fear of autism has led to a decline in childhood-immunization uptake and to a resurgence of preventable infectious diseases. Identifying characteristics of parents who believe in a causal role of vaccines for autism spectrum disorder (ASD)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6bda71f0ce591622386a0556da905cb
https://pubmed.ncbi.nlm.nih.gov/31924427

Isolation and Identification of the Follicular Microbiome: Implications for Acne Research

Autor: Joel T. Dudley, Diane Thiboutot, Jacob B. Hall, Brian A. Kidd, Yuka Imamura-Kawasawa, Zhaoyuan Cong, Amanda M. Nelson

Publikováno v: The Journal of investigative dermatology. 138(9)

Our understanding of the microbiome and the role of Propionibacterium acnes in skin homeostasis and acne pathogenesis is evolving. Multiple methods for sampling and identifying the skin's microbiome exist, and understanding the differences between th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13a460cb23f7a1fb06fe869349266413
https://pubmed.ncbi.nlm.nih.gov/29548797

Estimating cumulative pathway effects on risk for age-related macular degeneration using mixed linear models

Autor: William K. Scott, Anita Agarwal, Jessica N. Cooke Bailey, William S. Bush, Margaret A. Pericak-Vance, Jonathan L. Haines, Milam A. Brantley, Joshua D. Hoffman, Jacob B. Hall, Jaclyn L. Kovach, Stephen G. Schwartz

Publikováno v: BMC Bioinformatics

Background Age-related macular degeneration (AMD) is the leading cause of irreversible visual loss in the elderly in developed countries and typically affects more than 10 % of individuals over age 80. AMD has a large genetic component, with heritabi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::249a47476c1144a6b48e45c865350b94
https://pubmed.ncbi.nlm.nih.gov/26467978