Germline Chd8 haploinsufficiency alters brain development in mouse

by Gompers, Andrea L, Su-Feher, Linda, Ellegood, Jacob, Copping, Nycole A, Riyadh, M Asrafuzzaman, Stradleigh, Tyler W, Pride, Michael C, Schaffler, Melanie D, Wade, A Ayanna, Catta-Preta, Rinaldo, Zdilar, Iva, Louis, Shreya, Kaushik, Gaurav, Mannion, Brandon J, Plajzer-Frick, Ingrid, Afzal, Veena, Visel, Axel, Pennacchio, Len A, Dickel, Diane E, Lerch, Jason P, Crawley, Jacqueline N, Zarbalis, Konstantinos S, Silverman, Jill L, Nord, Alex S
Published in Nature neuroscience

The Effects of Chronic Exposure to Ambient Traffic-Related Air Pollution on Alzheimer's Disease Phenotypes in Wildtype and Genetically Predisposed Male and Female Rats

by Patten, Kelley T, Valenzuela, Anthony E, Wallis, Christopher, Berg, Elizabeth L, Silverman, Jill L, Bein, Keith J, Wexler, Anthony S, Lein, Pamela J
Published in Environmental health perspectives

Behavioral Phenotyping of Juvenile Long-Evans and Sprague-Dawley Rats: Implications for Preclinical Models of Autism Spectrum Disorders

by Ku, Katherine M, Weir, Ruth K, Silverman, Jill L, Berman, Robert F, Bauman, Melissa D
Published in PloS one

Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2

by Wöhr, Markus, Silverman, Jill L., Scattoni, Maria L., Turner, Sarah M., Harris, Mark J., Saxena, Roheeni, Crawley, Jacqueline N.
Published in Behavioural brain research

Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome

by Copping, Nycole A, Christian, Sarah G B, Ritter, Dylan J, Islam, M Saharul, Buscher, Nathalie, Zolkowska, Dorota, Pride, Michael C, Berg, Elizabeth L, LaSalle, Janine M, Ellegood, Jacob, Lerch, Jason P, Reiter, Lawrence T, Silverman, Jill L, Dindot, Scott V
Published in Human molecular genetics

Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism

by Dhamne, Sameer C, Silverman, Jill L, Super, Chloe E, Lammers, Stephen H T, Hameed, Mustafa Q, Modi, Meera E, Copping, Nycole A, Pride, Michael C, Smith, Daniel G, Rotenberg, Alexander, Crawley, Jacqueline N, Sahin, Mustafa
Published in Molecular autism

Developmental exposure to near roadway pollution produces behavioral phenotypes relevant to neurodevelopmental disorders in juvenile rats

by Berg, Elizabeth L, Pedersen, Lauren R, Pride, Michael C, Petkova, Stela P, Patten, Kelley T, Valenzuela, Anthony E, Wallis, Christopher, Bein, Keith J, Wexler, Anthony, Lein, Pamela J, Silverman, Jill L
Published in Translational psychiatry

Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice

by Haigh, Jessica L, Adhikari, Anna, Copping, Nycole A, Stradleigh, Tyler, Wade, A Ayanna, Catta-Preta, Rinaldo, Su-Feher, Linda, Zdilar, Iva, Morse, Sarah, Fenton, Timothy A, Nguyen, Anh, Quintero, Diana, Agezew, Samrawit, Sramek, Michael, Kreun, Ellie J, Carter, Jasmine, Gompers, Andrea, Lambert, Jason T, Canales, Cesar P, Pennacchio, Len A, Visel, Axel, Dickel, Diane E, Silverman, Jill L, Nord, Alex S
Published in Genome medicine

Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice

by Yang, Mu, Bozdagi, Ozlem, Scattoni, Maria Luisa, Wöhr, Markus, Roullet, Florence I, Katz, Adam M, Abrams, Danielle N, Kalikhman, David, Simon, Harrison, Woldeyohannes, Leuk, Zhang, James Y, Harris, Mark J, Saxena, Roheeni, Silverman, Jill L, Buxbaum, Joseph D, Crawley, Jacqueline N
Published in The Journal of neuroscience

Transcriptional reprogramming restores UBE3A brain-wide and rescues behavioral phenotypes in an Angelman syndrome mouse model

by O’Geen, Henriette, Beitnere, Ulrika, Garcia, Miranda S., Adhikari, Anna, Cameron, David L., Fenton, Timothy A., Copping, Nycole A., Deng, Peter, Lock, Samantha, Halmai, Julian A.N.M., Villegas, Isaac J., Liu, Jiajian, Wang, Danhui, Fink, Kyle D., Silverman, Jill L., Segal, David J.
Published in Molecular therapy

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

by Lange, Leslie A., Schmidt, Ellen M., Bizon, Chris, Jun, Goo, Auer, Paul, Li, Kuo-ping, Locke, Adam, Rivas, Manuel A., Feitosa, Mary F., Zhang, Qunyuan, Huffman, Jennifer E., Crosby, Jacy, Robinson, Jennifer G., Crosslin, David R., Rosenthal, Elisabeth A., Tsai, Michael, Rieder, Mark J., Fox, Ervin R., van Duijn, Cornelia M., Taylor, Herman A., Loos, Ruth J.F., Ballantyne, Christie M., Reiner, Alexander P., Cupples, L. Adrienne, Kang, Hyun Min, Lettre, Guillaume, Rader, Daniel J., Reilly, Muredach P., Stoletzki, Nina, Barr, R. Graham, Benjamin, Emelia J., Carr, Jeff, Dupuis, Josée, Ellis, Jaclyn, Fornage, Myriam, Goff, David, Grody, Wayne, Heard-Costa, Nancy L., Levy, Daniel, Li, Dalin, Loria, Cay, Mackey, Rachel, Quinlan, Aaron R., Rice, Kenneth, Sanders, Jill P., Tracy, Russell P., Tsai, Michael Y., Wassel, Chrstina L., Watson, Karol, Wilson, Gregory, Wilson, James G., Zakai, Neil A., Nalls, Michael, Bamshad, Michael J., Accurso, Frank, Beaty, Terri, Caplan, Daniel, Chidekel, Aaron, Christiani, David C., De Paula, Alicia, Gutierrez, Hector, Hassoun, Paul M., Hiatt, Peter, Hummer, Laura K., Kim, Yoonhee, Lin, Xihong, Louie, Tin L., Mathias, Rasika A., McNamara, John, McNamara, Sharon, Nielson, Dennis, Orenstein, David, O’Sullivan, Brian, Passero, Mary Ann, Perkett, Elizabeth, Spencer, Terry, Tabor, Holly K., Weiss, Robert, Wigley, Fred, Wise, Robert A., Wurfel, Mark M., Eichler, Evan E., Fu, Wenqing, Smith, Joshua D., Tennessen, Jacob A., Peters, Ulrike, Brzyski, Robert, Curb, J. David, Eaton, Charles B., Heiss, Gerardo, Johnson, Karen C., Lasser, Norman, Lin, Dan-Yu, Logsdon, Benjamin A., Manson, JoAnn E., Martin, Lisa, Stein, Evan, Applebaum-Bowden, Deborah, Paltoo, Dina N., Sturcke, Anne
Published in American journal of human genetics

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

by Kurata, Harley T., Jamra, Rami Abou, Alkelai, Anna, Antonarakis, Stylianos E., Bolkier, Yoav, Dickson, Patricia, Donald, Kirsten A., Eliyahu, Aviva, Emrick, Lisa, Odent, Sylvie, Ortiz-Gonzalez, Xilma, Rosenfeld, Jill A., Skraban, Cara, Alejandro, Mercedes E., Azamian, Mahshid S., Chao, Hsiao-Tuan, Dai, Hongzheng, Dhar, Shweta U., Karaviti, Lefkothea, Lee, Brendan H., Rosenfeld, Jill A., Scott, Daryl A., Wangler, Michael F., Eng, Christine M., Sullivan, Kathleen, Goldstein, David B., McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Beggs, Alan H., Cobban, Laurel A., Cooper, Cynthia M., Fieg, Elizabeth L., Korrick, Susan, Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Stoler, Joan M., Nagy, Anna, Dasari, Surendra, Lanpher, Brendan C., Bivona, Stephanie, Isasi, Rosario, Levitt, Roy, Tekin, Mustafa, Thorson, Willa, Eckstein, David J., Mamounas, Laura A., D’Souza, Precilla, Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Macnamara, Ellen F., Maduro, Valerie V., Nath, Avi, Baker, Eva, Power, Bradley, Mosbrook-Davis, Deborah, Rossignol, Francis, Yousef, Muhammad, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Blue, Elizabeth, Chanprasert, Sirisak, Glass, Ian, Jarvik, Gail P., Jarvik, Jeffrey, Mefford, Heather, Merritt, J. Lawrence, Raskind, Wendy, Sybert, Virginia, Wener, Mark, Wenger, Tara, Fisher, Paul G., Reuter, Chloe M., Smith, Kevin S., Zastrow, Diane B., Nakano-Okuno, Mariko, Whitlock, Jordan, Butte, Manish J., Fogel, Brent L., Krakow, Deborah, Lee, Hane, Palmer, Christina G.S., Papp, Jeanette C., Woods, Jeremy D., Andrews, Ashley, Pace, Laura, Viskochil, Dave, Bican, Anna, Kennedy, Jennifer, Cogan, Joy D., Cole, F. Sessions, Kiley, Dana, Sisco, Kathy, Schedl, Timothy, Solnica-Krezel, Lilianna, Pitt, Geoffrey S.
Published in Genetics in medicine

The genetic determinants of recurrent somatic mutations in 43,693 blood genomes

by Weinstock, Joshua S, Laurie, Cecelia A, Broome, Jai G, Taylor, Kent D, Guo, Xiuqing, Shuldiner, Alan R, O'Connell, Jeffrey R, Lewis, Joshua P, Boerwinkle, Eric, Barnes, Kathleen C, Chami, Nathalie, Kenny, Eimear E, Loos, Ruth J F, Fornage, Myriam, Redline, Susan, Cade, Brian E, Gilliland, Frank D, Chen, Zhanghua, Gauderman, W James, Kumar, Rajesh, Grammer, Leslie, Schleimer, Robert P, Psaty, Bruce M, Bis, Joshua C, Brody, Jennifer A, Silverman, Edwin K, Yun, Jeong H, Qiao, Dandi, Weiss, Scott T, Lasky-Su, Jessica, DeMeo, Dawn L, Palmer, Nicholette D, Freedman, Barry I, Bowden, Donald W, Cho, Michael H, Vasan, Ramachandran S, Johnson, Andrew D, Yanek, Lisa R, Becker, Lewis C, Kardia, Sharon, He, Jiang, Kaplan, Robert, Heckbert, Susan R, Smith, Nicholas L, Wiggins, Kerri L, Arnett, Donna K, Irvin, Marguerite R, Tiwari, Hemant, Correa, Adolfo, Raffield, Laura M, Gao, Yan, de Andrade, Mariza, Rotter, Jerome I, Rich, Stephen S, Manichaikul, Ani W, Konkle, Barbara A, Johnsen, Jill M, Wheeler, Marsha M, Custer, Brian S, Duggirala, Ravindranath, Curran, Joanne E, Blangero, John, Gui, Hongsheng, Xiao, Shujie, Williams, L Keoki, Meyers, Deborah A, Li, Xingnan, Ortega, Victor, McGarvey, Stephen, Gu, C Charles, Chen, Yii-Der Ida, Lee, Wen-Jane, Shoemaker, M Benjamin, Darbar, Dawood, Roden, Dan, Albert, Christine, Kooperberg, Charles, Desai, Pinkal, Blackwell, Thomas W, Abecasis, Goncalo R, Smith, Albert V, Kang, Hyun M, Mathias, Rasika, Natarajan, Pradeep, Jaiswal, Siddhartha, Reiner, Alexander P, Bick, Alexander G
Published in Science advances

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

by Cassini, Thomas A., Rives, Lynette C., Newman, John H., Koziura, Mary E., Hamid, Rizwan, Adams, Christopher, Adams, David, Alejandro, Mercedes, Allard, Patrick, Ashley, Euan, Bacino, Carlos, Balasubramanyam, Ashok, Barseghyan, Hayk, Bellen, Hugo, Boone, Braden, Bostwick, Bret, Briere, Lauren, Burke, Elizabeth, Burrage, Lindsay, Chao, Katherine, Clark, Gary, Dhar, Shweta, Donnell‐Fink, Laurel, Eckstein, David, Frisby, Trevor, Gartner, Valerie, Godfrey, Rena, Goheen, Mitchell, Golas, Gretchen, Goldstein, David, Gordon, Mary, Gould, Sarah, Gourdine, Jean‐Philippe, Hanchard, Neil, Handley, Lori, Herzog, Matthew, Holm, Ingrid, Howerton, Ellen, Jacob, Howard, Jain, Mahim, Jiang, Yong‐hui, Johnston, Jean, Jones, Angela, Koehler, Alanna, Kohler, Jennefer, Krier, Joel, Lalani, Seema, Latour, Yvonne, Lee, Brendan, Lee, Hane, Lee, Paul, Levy, Shawn, Lewis, Richard, Lincoln, Sharyn, Loscalzo, Joseph, Maas, Richard, MacRae, Calum, Malicdan, May Christine, Mamounas, Laura, McCarty, Alexandra, McCray, Alexa, Might, Matthew, Mulvihill, John, Murphy, Jennifer, Muzny, Donna, Nehrebecky, Michele, Nelson, Stan, Novacic, Donna, Carl Pallais, J, Posey, Jennifer, Potocki, Lorraine, Ramoni, Rachel, Rodan, Lance, Rosenfeld, Jill, Samson, Susan, Schaffer, Katherine, Sharma, Prashant, Shashi, Vandana, Silverman, Edwin, Soldatos, Ariane, Spillmann, Rebecca, Splinter, Kimberly, Stoler, Joan, Stong, Nicholas, Strong, Kimberly, Sullivan, Jennifer, Tifft, Cynthia, Vilain, Eric, Vogel, Tiphanie, Waggott, Daryl, Wahl, Colleen, Waters, Katrina, Webb‐Robertson, Bobbie‐Jo, Westerfield, Monte, Wheeler, Matthew, Wise, Anastasia, Wolfe, Lynne, Worthey, Elizabeth, Yamamoto, Shinya, Yang, Yaping
Published in Molecular genetics & genomic medicine