Editorial for the <i>IJMS</i> Special Issue on “Molecular Genetics of Autism and Intellectual Disability” by Hyung-Goo Kim

Get full text

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

Get full text

Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing by Vijay Gupta, Afif Ben-Mahmoud, Bonsu Ku, Dinesh Velayutham, Zainab Jan, Abdi Yousef Aden, Ahmad Kubbar, Fouad Alshaban, Fouad Alshaban, Lawrence W. Stanton, Lawrence W. Stanton, Puthen Veettil Jithesh, Lawrence C. Layman, Lawrence C. Layman, Hyung-Goo Kim, Hyung-Goo Kim

Get full text

Coordination of canonical and noncanonical Hedgehog signalling pathways mediated by WDR11 during primordial germ cell development by Jiyoung Lee, Yeonjoo Kim, Paris Ataliotis, Hyung-Goo Kim, Dae-Won Kim, Dorothy C. Bennett, Nigel A. Brown, Lawrence C. Layman, Soo-Hyun Kim

Get full text

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

Get full text

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

Get full text

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndro... by Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, Natalia T. Leach, Yiping Shen, Oana Moldovan, Himanshu Goel, Bruce Hopper, Kara Ranguin, Nicolas Gruchy, Saskia M Maas, Yves Lacassie, Soo-Hyun Kim, Woo-Yang Kim, Bradley J. Quade, Cynthia C. Morton, Cheol-Hee Kim, Lawrence C. Layman, Hyung-Goo Kim

Get full text

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

Get full text

Single Extracellular Vesicle Analysis Using Flow Cytometry for Neurological Disorder Biomarkers by Houda Yasmine Ali Moussa, Nimshitha Manaph, Gowher Ali, Selma Maacha, Kyung Chul Shin, Samia M. Ltaief, Vijay Gupta, Yongfeng Tong, Janarthanan Ponraj, Salam Salloum-Asfar, Said Mansour, Fouad A. Al-Shaban, Hyung-Goo Kim, Lawrence W. Stanton, Lawrence W. Stanton, Jean-Charles Grivel, Sara A. Abdulla, Abeer R. Al-Shammari, Yongsoo Park, Yongsoo Park

Get full text

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

Get full text

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

Get full text

A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders by Afif Ben-Mahmoud, Kyung Ran Jun, Vijay Gupta, Pinang Shastri, Alberto de la Fuente, Yongsoo Park, Kyung Chul Shin, Chong Ae Kim, Aparecido Divino da Cruz, Aparecido Divino da Cruz, Irene Plaza Pinto, Irene Plaza Pinto, Lysa Bernardes Minasi, Lysa Bernardes Minasi, Alex Silva da Cruz, Alex Silva da Cruz, Laurence Faivre, Laurence Faivre, Patrick Callier, Caroline Racine, Lawrence C. Layman, Lawrence C. Layman, Il-Keun Kong, Cheol-Hee Kim, Woo-Yang Kim, Hyung-Goo Kim

Get full text