Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment.

by Ying F Liu, Sarah M Sowell, Yue Luo, Alka Chaubey, Richard S Cameron, Hyung-Goo Kim, Anand K Srivastava
Published 2015-01-01

Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia

by Durkadin Demir Eksi, Yiping Shen, Munire Erman, Lynn P. Chorich, Megan E. Sullivan, Meric Bilekdemir, Elanur Yılmaz, Guven Luleci, Hyung-Goo Kim, Ozgul M. Alper, Lawrence C. Layman
Published 2018-02-01

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

by Kyungsoo Ha, Priya Anand, Jennifer A. Lee, Julie R. Jones, Chong Ae Kim, Debora Romeo Bertola, Jonathan D. J. Labonne, Lawrence C. Layman, Wolfgang Wenzel, Hyung-Goo Kim
Published 2016-11-01

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

by Jonathan D. J. Labonne, Terri M. Driessen, Marvin E. Harris, Il-Keun Kong, Soumia Brakta, John Theisen, Modibo Sangare, Lawrence C. Layman, Cheol-Hee Kim, Janghoo Lim, Hyung-Goo Kim
Published 2020-01-01

Development of novel biocompatible thermosensitive anti-adhesive agents using human-derived acellular dermal matrix.

by Jong Ju Jeong, Dong Won Lee, Seung Yong Song, Yerin Park, Ji Hee Kim, Jang Il Kim, Hyung Goo Kim, Ki Taek Nam, Won Jai Lee, Kee-Hyun Nam, Ju Hee Lee
Published 2019-01-01

Novel Loss-of-Function Variants in <i>CDC14A</i> are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients

by Julia Doll, Susanne Kolb, Linda Schnapp, Aboulfazl Rad, Franz Rüschendorf, Imran Khan, Abolfazl Adli, Atefeh Hasanzadeh, Daniel Liedtke, Sabine Knaup, Michaela AH Hofrichter, Tobias Müller, Marcus Dittrich, Il-Keun Kong, Hyung-Goo Kim, Thomas Haaf, Barbara Vona
Published 2020-01-01

Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism

by Oc-Hee Kim, Hyun-Ju Cho, Enna Han, Ted Inpyo Hong, Krishan Ariyasiri, Jung-Hwa Choi, Kyu-Seok Hwang, Yun-Mi Jeong, Se-Yeol Yang, Kweon Yu, Doo-Sang Park, Hyun-Woo Oh, Erica E. Davis, Charles E. Schwartz, Jeong-Soo Lee, Hyung-Goo Kim, Cheol-Hee Kim
Published 2017-09-01

Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development

by Kristin M. Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A. Wolfe, Joshi Stephen, David R. Adams, Thomas Markello, Cynthia J. Tifft, Robert Settlage, William A. Gahl, Graydon B. Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Y. Albert Pan
Published 2020-05-01

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

by Julia Doll, Barbara Vona, Linda Schnapp, Franz Rüschendorf, Imran Khan, Saadullah Khan, Noor Muhammad, Sher Alam Khan, Hamed Nawaz, Ajmal Khan, Naseer Ahmad, Susanne M. Kolb, Laura Kühlewein, Jonathan D. J. Labonne, Lawrence C. Layman, Michaela A. H. Hofrichter, Tabea Röder, Marcus Dittrich, Tobias Müller, Tyler D. Graves, Il-Keun Kong, Indrajit Nanda, Hyung-Goo Kim, Thomas Haaf
Published 2020-11-01

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

by Hyung-Goo Kim, Jill A. Rosenfeld, Daryl A. Scott, Gerard Bénédicte, Jonathan D. Labonne, Jason Brown, Marianne McGuire, Sonal Mahida, Sakkubai Naidu, Jacqueline Gutierrez, Gaetan Lesca, Vincent des Portes, Ange-Line Bruel, Arthur Sorlin, Fan Xia, Yline Capri, Eric Muller, Dianalee McKnight, Erin Torti, Franz Rüschendorf, Oliver Hummel, Zeyaul Islam, Prasanna R. Kolatkar, Lawrence C. Layman, Duchwan Ryu, Il-Keun Kong, Suneeta Madan-Khetarpal, Cheol-Hee Kim
Published 2019-10-01