Changes in nucleosome position at transcriptional start sites of specific genes in Zea mays mediator of paramutation1 mutants

por Labonne, Jonathan D. J., Dorweiler, Jane E., McGinnis, Karen M.
Publicado 2013

Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic in...

por Labonne, Jonathan D. J., Shen, Yiping, Kong, Il-Keun, Diamond, Michael P., Layman, Lawrence C., Kim, Hyung-Goo
Publicado 2016

A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies

por Labonne, Jonathan D. J., Graves, Tyler D., Shen, Yiping, Jones, Julie R., Kong, Il-Keun, Layman, Lawrence C., Kim, Hyung-Goo
Publicado 2016

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort

por Ha, Kyungsoo, Anand, Priya, Lee, Jennifer A., Jones, Julie R., Kim, Chong Ae, Bertola, Debora Romeo, Labonne, Jonathan D. J., Layman, Lawrence C., Wenzel, Wolfgang, Kim, Hyung-Goo
Publicado 2016

Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31

por Labonne, Jonathan D. J., Driessen, Terri M., Harris, Marvin E., Kong, Il-Keun, Brakta, Soumia, Theisen, John, Sangare, Modibo, Layman, Lawrence C., Kim, Cheol-Hee, Lim, Janghoo, Kim, Hyung-Goo
Publicado 2020

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

por Doll, Julia, Vona, Barbara, Schnapp, Linda, Rüschendorf, Franz, Khan, Imran, Khan, Saadullah, Muhammad, Noor, Alam Khan, Sher, Nawaz, Hamed, Khan, Ajmal, Ahmad, Naseer, Kolb, Susanne M., Kühlewein, Laura, Labonne, Jonathan D. J., Layman, Lawrence C., Hofrichter, Michaela A. H., Röder, Tabea, Dittrich, Marcus, Müller, Tobias, Graves, Tyler D., Kong, Il-Keun, Nanda, Indrajit, Kim, Hyung-Goo, Haaf, Thomas
Publicado 2020

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

por Kim, Hyung-Goo, Rosenfeld, Jill A., Scott, Daryl A., Bénédicte, Gerard, Labonne, Jonathan D., Brown, Jason, McGuire, Marianne, Mahida, Sonal, Naidu, Sakkubai, Gutierrez, Jacqueline, Lesca, Gaetan, des Portes, Vincent, Bruel, Ange-Line, Sorlin, Arthur, Xia, Fan, Capri, Yline, Muller, Eric, McKnight, Dianalee, Torti, Erin, Rüschendorf, Franz, Hummel, Oliver, Islam, Zeyaul, Kolatkar, Prasanna R., Layman, Lawrence C., Ryu, Duchwan, Kong, Il-Keun, Madan-Khetarpal, Suneeta, Kim, Cheol-Hee
Publicado 2019