PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia von Jansen, Laura A, Mirzaa, Ghayda M, Ishak, Gisele E, O'Roak, Brian J, Hiatt, Joseph B, Roden, William H, Gunter, Sonya A, Christian, Susan L, Collins, Sarah, Adams, Carissa, Rivière, Jean-Baptiste, St-Onge, Judith, Ojemann, Jeffrey G, Shendure, Jay, Hevner, Robert F, Dobyns, William B

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De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy von Cushion, Thomas D., Paciorkowski, Alex R., Pilz, Daniela T., Mullins, Jonathan G.L., Seltzer, Laurie E., Marion, Robert W., Tuttle, Emily, Ghoneim, Dalia, Christian, Susan L., Chung, Seo-Kyung, Rees, Mark I., Dobyns, William B.

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Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder von Christian, Susan L, Brune, Camille W, Sudi, Jyotsna, Kumar, Ravinesh A, Liu, Shaung, Karamohamed, Samer, Badner, Judith A, Matsui, Seiichi, Conroy, Jeffrey, McQuaid, Devin, Gergel, James, Hatchwell, Eli, Gilliam, T. Conrad, Gershon, Elliot S, Nowak, Norma J, Dobyns, William B, Cook, Edwin H

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Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria von Sajan, Samin A, Fernandez, Liliana, Nieh, Sahar Esmaeeli, Rider, Eric, Bukshpun, Polina, Wakahiro, Mari, Christian, Susan L, Rivière, Jean-Baptiste, Sullivan, Christopher T, Sudi, Jyotsna, Herriges, Michael J, Paciorkowski, Alexander R, Barkovich, A James, Glessner, Joseph T, Millen, Kathleen J, Hakonarson, Hakon, Dobyns, William B, Sherr, Elliott H

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Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption von Paciorkowski, Alex R., Keppler-Noreuil, Kim, Robinson, Luther, Sullivan, Christopher, Sajan, Samin, Christian, Susan L., Bukshpun, Polina, Gabriel, Stacy B., Gleeson, Joseph G., Sherr, Elliott H., Dobyns, William B.

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Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function von PACIORKOWSKI, Alex R, LIN THIO, Liu, WHELESS, James W, BALASUBRAMANIAN, Sandhya, KUMAR, Ravinesh, CHRISTIAN, Susan L, MARINI, Carla, GUERRINI, Renzo, MALTSEV, Natalia, SHAFFER, Lisa G, DOBYNS, William B, ROSENFELD, Jill A, GAJECKA, Marzena, GURNETT, Christina A, KULKARNI, Shashikant, CHUNG, Wendy K, MARSH, Eric D, GENTILE, Mattia, REGGIN, James D

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Autism as a paradigmatic complex genetic disorder von Veenstra-Vanderweele, Jeremy, Christian, Susan L, Cook, Jr, Edwin H

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Association and mutation analyses of 16p11.2 autism candidate genes von Kumar, Ravinesh A, Marshall, Christian R, Badner, Judith A, Babatz, Timothy D, Mukamel, Zohar, Aldinger, Kimberly A, Sudi, Jyotsna, Brune, Camille W, Goh, Gerald, Karamohamed, Samer, Sutcliffe, James S, Cook, Edwin H, Geschwind, Daniel H, Dobyns, William B, Scherer, Stephen W, Christian, Susan L

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The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles von Kusenda, Mary, Vacic, Vladimir, Malhotra, Dheeraj, Rodgers, Linda, Pavon, Kevin, Meth, Jennifer, Kumar, Ravinesh A., Christian, Susan L., Peeters, Hilde, Cho, Shawn S., Addington, Anjene, Rapoport, Judith L., Sebat, Jonathan

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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome von Rivière, Jean-Baptiste, van Bon, Bregje W M, Hoischen, Alexander, Kholmanskikh, Stanislav S, O'Roak, Brian J, Gilissen, Christian, Gijsen, Sabine, Sullivan, Christopher T, Christian, Susan L, Abdul-Rahman, Omar A, Atkin, Joan F, Chassaing, Nicolas, Drouin-Garraud, Valerie, Fry, Andrew E, Fryns, Jean-Pierre, Gripp, Karen W, Kempers, Marlies, Kleefstra, Tjitske, Mancini, Grazia M S, Nowaczyk, Małgorzata J M, van Ravenswaaij-Arts, Conny M A, Roscioli, Tony, Marble, Michael, Rosenfeld, Jill A, Siu, Victoria M, de Vries, Bert B A, Shendure, Jay, Verloes, Alain, Veltman, Joris A, Brunner, Han G, Ross, M Elizabeth, Pilz, Daniela T, Dobyns, William B

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Recurrent 16p11.2 microdeletions in autism von Kumar, Ravinesh A., KaraMohamed, Samer, Sudi, Jyotsna, Conrad, Donald F., Brune, Camille, Badner, Judith A., Gilliam, T. Conrad, Nowak, Norma J., Cook, Edwin H., Dobyns, William B., Christian, Susan L.

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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2 von Dobyns, William B., Mirzaa, Ghayda, Christian, Susan L., Petras, Kristin, Roseberry, Jessica, Clark, Gary D., Curry, Cynthia J.R., McDonald-McGinn, Donna, Medne, Livija, Zackai, Elaine, Parsons, Julie, Zand, Dina J., Hisama, Fuki M., Walsh, Christopher A., Leventer, Richard J., Martin, Christa L., Gajecka, Marzena, Shaffer, Lisa G.

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Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females von Marsh, Eric, Fulp, Carl, Gomez, Ernest, Nasrallah, Ilya, Minarcik, Jeremy, Sudi, Jyotsna, Christian, Susan L., Mancini, Grazia, Labosky, Patricia, Dobyns, William, Brooks-Kayal, Amy, Golden, Jeffrey A.

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Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum von Chizhikov, Victor V, Uyanik, Gökhan, Kuechler, Alma, Kutsche, Kerstin, Flubacher, Armin, Charnas, Lawrence R, Golden, Jeffrey A, Haas, Carola A, Frank, Ulrich, Ullmann, Reinhard, Klopocki, Eva, Dobyns, William B, Sudi, Jyotsna, Wimplinger, Isabella, Christian, Susan L, Horn, Denise, Najm, Juliane

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Genetics of autism spectrum disorders von Kumar, Ravinesh A., Christian, Susan L.

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Copy number and sequence variants implicate APBA2 as an autism candidate gene von Babatz, Timothy D., Kumar, Ravinesh A., Sudi, Jyotsna, Dobyns, William B., Christian, Susan L.

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A 2-base pair deletion polymorphism in the partial duplication of the α7 nicotinic acetylcholine gene ( CHRFAM7A ) on chromosome 15q14 is associated with schizophrenia von Sinkus, Melissa L, Lee, Michael J, Gault, Judith, Logel, Judith, Short, Margaret, Freedman, Robert, Christian, Susan L, Lyon, Jennifer, Leonard, Sherry

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Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation von Paciorkowski, Alex R, Weisenberg, Judy, Kelley, Joshua B, Spencer, Adam, Tuttle, Emily, Ghoneim, Dalia, Thio, Liu Lin, Christian, Susan L, Dobyns, William B, Paschal, Bryce M

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Linkage Disequilibrium of the Brain-Derived Neurotrophic Factor Val66Met Polymorphism in Children With a Prepubertal and Early Adolescent Bipolar Disorder Phenotype von Geller, Barbara, Badner, Judith A., Tillman, Rebecca, Christian, Susan L., Bolhofner, Kristine, Cook, Edwin H.

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Polymorphisms at the G72/G30 Gene Locus, on 13q33, Are Associated with Bipolar Disorder in Two Independent Pedigree Series von Hattori, Eiji, Liu, Chunyu, Badner, Judith A., Bonner, Tom I., Christian, Susan L., Maheshwari, Manjula, Detera-Wadleigh, Sevilla D., Gibbs, Richard A., Gershon, Elliot S.

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