Validation of Autism Diagnosis and Clinical Data in the SPARK Cohort

Authors: Fombonne, Eric (ORCID 0000-0002-8605-3538), Coppola, Leigh, Mastel, Sarah, O'Roak, Brian J.

Source: Journal of Autism and Developmental Disorders. Aug 2022 52(8):3383-3398.

Peer Reviewed: Y

Page Count: 16

Descriptors: Validity, Autism, Pervasive Developmental Disorders, Clinical Diagnosis, Grouping (Instructional Purposes), Records (Forms)

Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon

Authors: O'Brien, Timothy D., Potter, Amiee B., Driscoll, Catherine C., Goh, Gregory, Letaw, John H., McCabe, Sarah, Thanner, Jane, Kulkarni, Arpita, Wong, Rossana, Medica, Samuel, Week, Tiana, Buitrago, Jacob, Larson, Aaron, Camacho, Katie Johnson, Brown, Kim, Crist, Rachel, Conrad, Casey, Evans-Dutson, Sara, Lutz, Ryan, Mitchell, Asia, Anur, Pavana, Serrato, Vanessa, Shafer, Autumn, Marriott, Lisa K., Hamman, K.J., Mulford, Amelia, Wiszniewski, Wojciech, Sampson, Jone E., Adey, Andrew, O'Roak, Brian J., Harrington, Christina A., Shannon, Jackilen, Spellman, Paul T., Richards, C. Sue

Source: American journal of human genetics. 110(8):1249-1265

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194894502.0x000001&indx=1&recIds=ETOCvdc_100194894502.0x000001

Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon

Authors: O’Brien, Timothy D., Potter, Amiee B., Driscoll, Catherine C., Goh, Gregory, Letaw, John H., McCabe, Sarah, Thanner, Jane, Kulkarni, Arpita, Wong, Rossana, Medica, Samuel, Week, Tiana, Buitrago, Jacob, Larson, Aaron, Camacho, Katie Johnson, Brown, Kim, Crist, Rachel, Conrad, Casey, Evans-Dutson, Sara, Lutz, Ryan, Mitchell, Asia, Anur, Pavana, Serrato, Vanessa, Shafer, Autumn, Marriott, Lisa K., Hamman, K.J., Mulford, Amelia, Wiszniewski, Wojciech, Sampson, Jone E., Adey, Andrew, O’Roak, Brian J., Harrington, Christina A., Shannon, Jackilen, Spellman, Paul T., Richards, C. Sue

Source: In The American Journal of Human Genetics 3 August 2023 110(8):1249-1265

Autism and attention‐deficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1

Authors: Morotti, Hadley, Mastel, Sarah, Keller, Kory, Barnard, Rebecca A, Hall, Trevor, O'Roak, Brian J, Fombonne, Eric

Source: Developmental medicine & child neurology. 63(2):226-232

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100115866219.0x000001&indx=1&recIds=ETOCvdc_100115866219.0x000001

An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships

Authors: Mighell, Taylor L., Thacker, Stetson, Fombonne, Eric, Eng, Charis, O’Roak, Brian J.

Source: In The American Journal of Human Genetics 4 June 2020 106(6):818-829

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Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes

Authors: Beighley, Jennifer S., Hudac, Caitlin M., Arnett, Anne B., Peterson, Jessica L., Gerdts, Jennifer, Wallace, Arianne S., Mefford, Heather C., Hoekzema, Kendra, Turner, Tychele N., O’Roak, Brian J., Eichler, Evan E., Bernier, Raphael A.

Source: In Biological Psychiatry 15 January 2020 87(2):123-131

Beliefs in vaccine as causes of autism among SPARK cohort caregivers

Authors: Fombonne, Eric, Goin-Kochel, Robin P., O'Roak, Brian J.

Source: Vaccine. 38(7):1794-1803

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100103865133.0x000001&indx=1&recIds=ETOCvdc_100103865133.0x000001

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships

Authors: Mighell, Taylor L., Evans-Dutson, Sara, O’Roak, Brian J.

Source: In The American Journal of Human Genetics 3 May 2018 102(5):943-955

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

Authors: Feliciano, Pamela, Daniels, Amy M., Green Snyder, LeeAnne, Beaumont, Amy, Camba, Alexies, Esler, Amy, Gulsrud, Amanda G., Mason, Andrew, Gutierrez, Anibal, Nicholson, Amy, Paolicelli, Anna Marie, McKenzie, Alexander P., Rachubinski, Angela L., Stephens, Alexandra N., Simon, Andrea R., Stedman, Amy, Shocklee, Amanda D., Swanson, Amy, Finucane, Brenda, Hilscher, Brittani A., Hauf, Brenda, O’Roak, Brian J., McKenna, Brooke, Robertson, Beverly E., Rodriguez, Barbara, Vernoia, Brianna M., Van Metre, Bonnie, Bradley, Catherine, Cohen, Cheryl, Erickson, Craig A., Harkins, Christina, Hayes, Caitlin, Lord, Catherine, Martin, Christa Lese, Ortiz, Crissy, Ochoa-Lubinoff, Cesar, Peura, Christine, Rice, Catherine E., Rosenberg, Cordelia R., Smith, Christopher J., Thomas, Carrie, Taylor, Cora M., White, Loran Casey, Walston, Corrie H., Amaral, David G., Coury, Daniel Lee, Sarver, Dustin E., Istephanous, Dalia, Li, Deana, Nugyen, Dzung Cong, Fox, Emily A., Butter, Eric M., Berry-Kravis, Elizabeth, Courchesne, Eric, Fombonne, Eric J., Hofammann, Eugenia, Lamarche, Elena, Wodka, Ericka L., Matthews, Emily T., O’Connor, Eirene, Palen, Emily, Miller, Fiona, Dichter, Gabriel S., Marzano, Gabriela, Stein, Gail, Hutter, Hanna, Kaplan, Hannah E., Li, Hai, Lechniak, Holly, Schneider, Hoa Lam, Zaydens, Hana, Arriaga, Ivette, Gerdts, Jennifer A., Cubells, Joseph F., Cordova, Jeanette M., Gunderson, Jaclyn, Lillard, Joseph, Manoharan, Julie, McCracken, James T., Michaelson, Jacob J., Neely, Jason, Orobio, Jessica, Pandey, Juhi, Piven, Joseph, Scherr, Jessica, Sutcliffe, James S., Tjernagel, Jennifer, Wallace, Jermel, Callahan, Kristen, Dent, Katherine, Schweers, Kathryn A., Hamer, Kira E., Law, J. Kiely, Lowe, Kathryn, O’Brien, Kaela, Smith, Kaitlin, Pawlowski, Katherine G., Pierce, Karen L., Roeder, Katherine, Abbeduto, Leonard J., Berry, Leandra N., Cartner, Lindsey A., Coppola, Leigh A., Carpenter, Laura, Cordeiro, Lisa, DeMarco, Lindsey, Grosvenor, Luke P., Higgins, Lorrin, Huang-Storms, Lark Y., Hosmer-Quint, Landon, Herbert, Lynette M., Kasparson, Lauren, Prock, Lisa M., Pacheco, Lillian D., Raymond, Laurie, Simon, Laura, Soorya, Latha V., Wasserburg, Lucy, Lazar, Maya, Alessandri, Michael, Brown, Melissa, Currin, Mary Hannah, Gwynette, McLeod F., Heyman, Michelle, Hale, Melissa N., Jones, Mark, Jordy, Michelle, Morrier, Michael J., Sahin, Mustafa, Siegel, Matthew S., Verdi, Mary, Parlade, Meaghan Venezia, Yinger, Meredith, Bardett, Nicole, Hanna, Nathan, Harris, Nina, Pottschmidt, Natalie, Russo-Ponsaran, Nicole, Takahashi, Nicole, Ousley, Opal Y., Juarez, A. Pablo, Manning, Patricia, Annett, Robert D., Bernier, Raphael A., Clark, Renee D., Landa, Rebecca J., Goin-Kochel, Robin P., Remington, Rick, Schultz, Robert T., Brewster, Stephanie J., Booker, Stephanie, Carpenter, Sarah, Eldred, Sara, Francis, Sunday, Friedman, Sandra L., Horner, Susannah, Hepburn, Susan, Jacob, Suma, Kanne, Stephen, Lee, Soo J., Mastel, Sarah A., Plate, Samantha, Qiu, Shanping, Sandhu, Sophia, Thompson, Samantha, White, Sabrina, Myers, Vincent J., Singh, Vini, Yang, Wha S., Warren, Zachary, Amatya, Alpha, Ace, Andrea J., Chatha, Ahmad S., Lash, Alex E., Negron, Ben, Rigby, Chris, Ridenour, Curtis, Stock, Colleen M., Schmidt, Danielle, Fisk, Ian, Acampado, John, Nestle, Jay L., Nestle, Jay A., Layman, Kevin, Butler, Martin E., Kent, Matt, Mallardi, Malcolm D., Carriero, Nicholas, Lawson, Noah, Volfovsky, Natalia, Edgar, Ron, Marini, Richard, Rana, Rishiraj, Ganesan, Swami, Shah, Swapnil, Ramsey, Tyler, Chin, Wubin, Jensen, William, Krentz, Anthony D., Gruber, Angela J., Sabo, Aniko, Salomatov, Andrei, Eng, Christine, Muzny, Donna, Astrovskaya, Irina, Gibbs, Richard A., Han, Xinwei, Shen, Yufeng, Reichardt, Louis F., Chung, Wendy K.

Source: In Neuron 7 February 2018 97(3):488-493

Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome

Authors: Abelson, Jesse F., Kwan, Kenneth Y., O'Roak, Brian J., Baek, Danielle Y., Stillman, Althea A., Morgan, Thomas M., Mathews, Carol A., Pauls, David L., Rašin, Mladen-Roko, Gunel, Murat, Davis, Nicole R., Ercan-Sencicek, A. Gulhan, Guez, Danielle H., Spertus, John A., Leckman, James F., Dure, Leon S., Kurlan, Roger, Singer, Harvey S., Gilbert, Donald L., Farhi, Anita, Louvi, Angeliki, Lifton, Richard P., Šestan, Nenad, State, Matthew W.

Source: Science, 2005 Oct . 310(5746), 317-320.

Access URL: https://www.jstor.org/stable/3842662

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

Authors: Krupp, Deidre R., Barnard, Rebecca A., Duffourd, Yannis, Evans, Sara A., Mulqueen, Ryan M., Bernier, Raphael, Rivière, Jean-Baptiste, Fombonne, Eric, O’Roak, Brian J.

Source: In The American Journal of Human Genetics 7 September 2017 101(3):369-390

Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos

Authors: Pino-Yanes, Maria, Gignoux, Christopher R., Galanter, Joshua M., Levin, Albert M., Campbell, Catarina D., Eng, Celeste, Huntsman, Scott, Nishimura, Katherine K., Gourraud, Pierre-Antoine, Mohajeri, Kiana, O'Roak, Brian J., Hu, Donglei, Mathias, Rasika A., Nguyen, Elizabeth A., Roth, Lindsey A., Padhukasahasram, Badri, Moreno-Estrada, Andres, Sandoval, Karla, Winkler, Cheryl A., Lurmann, Fred, Davis, Adam, Farber, Harold J., Meade, Kelley, Avila, Pedro C., Serebrisky, Denise, Chapela, Rocio, Ford, Jean G., Lenoir, Michael A., Thyne, Shannon M., Brigino-Buenaventura, Emerita, Borrell, Luisa N., Rodriguez-Cintron, William, Sen, Saunak, Kumar, Rajesh, Rodriguez-Santana, Jose R., Bustamante, Carlos D., Martinez, Fernando D., Raby, Benjamin A., Weiss, Scott T., Nicolae, Dan L., Ober, Carole, Meyers, Deborah A., Bleecker, Eugene R., Mack, Steven J., Hernandez, Ryan D., Eichler, Evan E., Barnes, Kathleen C., Williams, L. Keoki, Torgerson, Dara G., Burchard, Esteban G.

Source: In The Journal of Allergy and Clinical Immunology June 2015 135(6):1502-1510

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Authors: Bernier, Raphael, Golzio, Christelle, Xiong, Bo, Stessman, Holly A., Coe, Bradley P., Penn, Osnat, Witherspoon, Kali, Gerdts, Jennifer, Baker, Carl, Vulto-van Silfhout, Anneke T., Schuurs-Hoeijmakers, Janneke H., Fichera, Marco, Bosco, Paolo, Buono, Serafino, Alberti, Antonino, Failla, Pinella, Peeters, Hilde, Steyaert, Jean, Vissers, Lisenka E.L.M., Francescatto, Ludmila, Mefford, Heather C., Rosenfeld, Jill A., Bakken, Trygve, O’Roak, Brian J., Pawlus, Matthew, Moon, Randall, Shendure, Jay, Amaral, David G., Lein, Ed, Rankin, Julia, Romano, Corrado, de Vries, Bert B.A., Katsanis, Nicholas, Eichler, Evan E.

Source: In Cell 17 July 2014 158(2):263-276

A de novo convergence of autism genetics and molecular neuroscience

Authors: Krumm, Niklas, O’Roak, Brian J., Shendure, Jay, Eichler, Evan E.

Source: In Trends in Neurosciences February 2014 37(2):95-105

Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data

Authors: He, Zongxiao, O’Roak, Brian J., Smith, Joshua D., Wang, Gao, Hooker, Stanley, Santos-Cortez, Regie Lyn P., Li, Biao, Kan, Mengyuan, Krumm, Nik, Nickerson, Deborah A., Shendure, Jay, Eichler, Evan E., Leal, Suzanne M.

Source: In The American Journal of Human Genetics 2 January 2014 94(1):33-46

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Authors: Tuz, Karina, Bachmann-Gagescu, Ruxandra, O’Day, Diana R., Hua, Kiet, Isabella, Christine R., Phelps, Ian G., Stolarski, Allan E., O’Roak, Brian J., Dempsey, Jennifer C., Lourenco, Charles, Alswaid, Abdulrahman, Bönnemann, Carsten G., Medne, Livija, Nampoothiri, Sheela, Stark, Zornitza, Leventer, Richard J., Topçu, Meral, Cansu, Ali, Jagadeesh, Sujatha, Done, Stephen, Ishak, Gisele E., Glass, Ian A., Shendure, Jay, Neuhauss, Stephan C.F., Haldeman-Englert, Chad R., Doherty, Dan, Ferland, Russell J.

Source: In The American Journal of Human Genetics 2 January 2014 94(1):62-72

Aerosol delivery of SARS-CoV-2 human monoclonal antibodies in macaques limits viral replication and lung pathology.

Authors: Streblow, Daniel N., Hirsch, Alec J., Stanton, Jeffrey J., Lewis, Anne D., Colgin, Lois, Hessell, Ann J., Kreklywich, Craig N., Smith, Jessica L., Sutton, William F., Chauvin, David, Woo, Jennifer, Bimber, Benjamin N., LeBlanc, Cierra N., Acharya, Sonia N., O'Roak, Brian J., Sardar, Harjinder, Sajadi, Mohammad M., Tehrani, Zahra R., Walter, Mark R., Martinez-Sobrido, Luis

Source: Nature Communications; 11/3/2023, Vol. 14 Issue 1, p1-15, 15p

Subject Terms: MONOCLONAL antibodies, SARS-CoV-2, LUNGS, MICROBIOLOGICAL aerosols, SARS-CoV-2 Delta variant, VIRAL replication, RESPIRATORY syncytial virus

Transmission Disequilibrium of Small CNVs in Simplex Autism

Authors: Krumm, Niklas, O’Roak, Brian J., Karakoc, Emre, Mohajeri, Kiana, Nelson, Ben, Vives, Laura, Jacquemont, Sebastien, Munson, Jeff, Bernier, Raphe, Eichler, Evan E.

Source: In The American Journal of Human Genetics 3 October 2013 93(4):595-606

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

Authors: O'Roak, Brian J., Vives, Laura, Fu, Wenqing, Egertson, Jarrett D., Stanaway, Ian B., Phelps, Ian G., Carvill, Gemma, Kumar, Akash, Lee, Choli, Ankenman, Katy, Munson, Jeff, Hiatt, Joseph B., Turner, Emily H., Levy, Roie, O'Day, Diana R., Krumm, Niklas, Coe, Bradley P., Martin, Beth K., Borenstein, Elhanan, Nickerson, Deborah A., Mefford, Heather C., Doherty, Dan, Akey, Joshua M., Bernier, Raphael, Eichler, Evan E., Shendure, Jay

Source: Science, 2012 Dec . 338(6114), 1619-1622.

Access URL: http://dx.doi.org/10.1126/science.1227764