Exonic deletion of SLC9A9 in autism with epilepsy

por Cardon, Meeta, Evankovich, Karen D., Holder, J. Lloyd
Publicado 2016

Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers

por Bolbocean, Corneliu, Andújar, Fabiola N., McCormack, Maria, Suter, Bernhard, Holder, J. Lloyd
Publicado 2021

COVID-19 Induced Environments, Health-Related Quality of Life Outcomes and Problematic Behaviors: Evidence from Children with Syndromic Autism Spectrum Disorders

por Bolbocean, Corneliu, Rhidenour, Kayla B, McCormack, Maria, Suter, Bernhard, Holder, J Lloyd
Publicado 2022

Sleep Abnormalities in the Synaptopathies—SYNGAP1-Related Intellectual Disability and Phelan–McDermid Syndrome

por Smith-Hicks, Constance, Wright, Damien, Kenny, Aisling, Stowe, Robert C., McCormack, Maria, Stanfield, Andrew C., Holder, J. Lloyd
Publicado 2021

Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression

por Jimenez-Gomez, Andres, Niu, Sizhe, Andujar-Perez, Fabiola, McQuade, Elizabeth A., Balasa, Alfred, Huss, David, Coorg, Rohini, Quach, Michael, Vinson, Sherry, Risen, Sarah, Holder, J. Lloyd
Publicado 2019

A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability

por Wang, Li, Adamski, Carolyn J., Bondar, Vitaliy V, Craigen, Evelyn, Collette, John R., Pang, Kaifang, Han, Kihoon, Liu, Zhandong, Sifers, Richard N., Holder, J. Lloyd, Zoghbi, Huda Y.
Publicado 2019

SYNGAP1 Heterozygosity Disrupts Sensory Processing by Reducing Touch-Related Activity within Somatosensory Cortex Circuits

por Michaelson, Sheldon D., Ozkan, Emin D., Aceti, Massimiliano, Maity, Sabyasachi, Llamosas, Nerea, Weldon, Monica, Mizrachi, Elisa, Vaissiere, Thomas, Gaffield, Michael A., Christie, Jason M., Holder, J. Lloyd, Miller, Courtney A., Rumbaugh, Gavin
Publicado 2018

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

por De Rubeis, Silvia, Siper, Paige M., Durkin, Allison, Weissman, Jordana, Muratet, François, Halpern, Danielle, Trelles, Maria del Pilar, Frank, Yitzchak, Lozano, Reymundo, Wang, A. Ting, Holder, J. Lloyd, Betancur, Catalina, Buxbaum, Joseph D., Kolevzon, Alexander
Publicado 2018

SHANK3 overexpression causes manic-like behavior with unique pharmacogenetic properties

por Han, Kihoon, Holder, J. Lloyd, Schaaf, Christian P., Lu, Hui, Chen, Hongmei, Kang, Hyojin, Tang, Jianrong, Wu, Zhenyu, Hao, Shuang, Cheung, Sau Wai, Yu, Peng, Sun, Hao, Breman, Amy M., Patel, Ankita, Lu, Hui-Chen, Zoghbi, Huda Y.
Publicado 2013

An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function

por Wang, Li, Pang, Kaifang, Han, Kihoon, Adamski, Carolyn J., Wang, Wei, He, Lingjie, Lai, Jason K., Bondar, Vitaliy V, Duman, Joseph G., Richman, Ronald, Tolias, Kimberley F., Barth, Patrick, Palzkill, Timothy, Liu, Zhandong, Holder, J. Lloyd, Zoghbi, Huda Y.
Publicado 2019

TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features

por Balestrini, Simona, Milh, Mathieu, Castiglioni, Claudia, Lüthy, Kevin, Finelli, Mattea J., Verstreken, Patrik, Cardon, Aaron, Stražišar, Barbara Gnidovec, Holder, J. Lloyd, Lesca, Gaetan, Mancardi, Maria M., Poulat, Anne L., Repetto, Gabriela M., Banka, Siddharth, Bilo, Leonilda, Birkeland, Laura E., Bosch, Friedrich, Brockmann, Knut, Cross, J. Helen, Doummar, Diane, Félix, Temis M., Giuliano, Fabienne, Hori, Mutsuki, Hüning, Irina, Kayserili, Hulia, Kini, Usha, Lees, Melissa M., Meenakshi, Girish, Mewasingh, Leena, Pagnamenta, Alistair T., Peluso, Silvio, Mey, Antje, Rice, Gregory M., Rosenfeld, Jill A., Taylor, Jenny C., Troester, Matthew M., Stanley, Christine M., Ville, Dorothee, Walkiewicz, Magdalena, Falace, Antonio, Fassio, Anna, Lemke, Johannes R., Biskup, Saskia, Tardif, Jessica, Ajeawung, Norbert F., Tolun, Aslihan, Corbett, Mark, Gecz, Jozef, Afawi, Zaid, Howell, Katherine B., Oliver, Karen L., Berkovic, Samuel F., Scheffer, Ingrid E., de Falco, Fabrizio A., Oliver, Peter L., Striano, Pasquale, Zara, Federico, Campeau, Phillipe M., Sisodiya, S.M.
Publicado 2016

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith...

por Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A., Suri, Mohnish, Lewis, Andrea M., Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O., Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T., Graham, Brett, Harris, Jill M., Gibson, James B., Pastore, Matthew, McBride, Kim L., Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A., Wierenga, Klaas J., Scott, Daryl A., Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Holder, J. Lloyd, Burrage, Lindsay C., Seaver, Laurie H., Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S., Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K., Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M., Gibbs, Richard A., Elsea, Sarah H., Posey, Jennifer E., Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M., Lupski, James R., Liu, Pengfei
Publicado 2019