A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3

por Williams, Lacey S., Kim, Hyung-Goo, Kalscheuer, Vera M., Tuck, J. Matthew, Chorich, Lynn P., Sullivan, Megan E., Falkenstrom, Allison, Reindollar, Richard H., Layman, Lawrence C.
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

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

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

Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing

por Gupta, Vijay, Ben-Mahmoud, Afif, Ku, Bonsu, Velayutham, Dinesh, Jan, Zainab, Yousef Aden, Abdi, Kubbar, Ahmad, Alshaban, Fouad, Stanton, Lawrence W., Jithesh, Puthen Veettil, Layman, Lawrence C., Kim, Hyung-Goo
Publicado 2023

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

Analysis of Cytogenetic Abnormalities in Iranian Patients with Syndromic Autism Spectrum Disorder: A Case Series

por GHASEMI, Mohammad Reza, ZARGARI, Peyman, SADEGHI, Hossein, BAGHERI, Saman, SADEGHGI, Behnia, MIRFAKHRAIE, Reza, EKRAMI, Mahdis, MOHAMMADI SARVALEH, Sepideh, HASHEMI GORJI, Farzad, RAZJOUYAN, Katayoon, OMRANI, Davood, KIM, Hyung goo, MIRYOUNESI, Mohammad
Publicado 2022

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

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

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

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

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

por Minocherhomji, Sheroy, Hansen, Claus, Kim, Hyung-Goo, Mang, Yuan, Bak, Mads, Guldberg, Per, Papadopoulos, Nickolas, Eiberg, Hans, Doh, Gerald Dayebga, Møllgård, Kjeld, Hertz, Jens Michael, Nielsen, Jørgen E., Ropers, Hans-Hilger, Tümer, Zeynep, Tommerup, Niels, Kalscheuer, Vera M., Silahtaroglu, Asli
Publicado 2014

A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

por Ben-Mahmoud, Afif, Kishikawa, Shotaro, Gupta, Vijay, Leach, Natalia T., Shen, Yiping, Moldovan, Oana, Goel, Himanshu, Hopper, Bruce, Ranguin, Kara, Gruchy, Nicolas, Maas, Saskia M, Lacassie, Yves, Kim, Soo-Hyun, Kim, Woo-Yang, Quade, Bradley J., Morton, Cynthia C., Kim, Cheol-Hee, Layman, Lawrence C., Kim, Hyung-Goo
Publicado 2023

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...

por Ben-Mahmoud, Afif, Kishikawa, Shotaro, Gupta, Vijay, Leach, Natalia T., Shen, Yiping, Moldovan, Oana, Goel, Himanshu, Hopper, Bruce, Ranguin, Kara, Gruchy, Nicolas, Maas, Saskia M, Lacassie, Yves, Kim, Soo-Hyun, Kim, Woo-Yang, Quade, Bradley J., Morton, Cynthia C., Kim, Cheol-Hee, Layman, Lawrence C., Kim, Hyung-Goo
Publicado 2023

WDR11‐mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome

por Kim, Yeon‐Joo, Osborn, Daniel PS, Lee, Ji‐Young, Araki, Masatake, Araki, Kimi, Mohun, Timothy, Känsäkoski, Johanna, Brandstack, Nina, Kim, Hyun‐Taek, Miralles, Francesc, Kim, Cheol‐Hee, Brown, Nigel A, Kim, Hyung‐Goo, Martinez‐Barbera, Juan Pedro, Ataliotis, Paris, Raivio, Taneli, Layman, Lawrence C, Kim, Soo‐Hyun
Publicado 2017

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

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

Epilepsy Research in Mali: A Pilot Pharmacokinetics Study on First-Line Antiepileptic Drug Treatment

por Sangare, Modibo, Doumbia, Fatoumata, Sidibe, Oumar, Oumar, Aboucacar Alassane, Bah, Sekou, Kouyate, Modibo, Diakite, Seidina S., Traore, Karim, Karembe, Adama, Haidara, Mohamed S., Coulibaly, Souleymane P., Coulibaly, Souleymane, Togora, Arouna, Dolo, Housseini, Traore, Drissa, Doumbia, Seydou, Diakite, Mahamadou, Maiga, Youssoufa, Diawara, Amadou, Kuate, Callixte, Kim, Hyung-Goo, Awandare, Gordon A.
Publicado 2020

Single Extracellular Vesicle Analysis Using Flow Cytometry for Neurological Disorder Biomarkers

por Ali Moussa, Houda Yasmine, Manaph, Nimshitha, Ali, Gowher, Maacha, Selma, Shin, Kyung Chul, Ltaief, Samia M., Gupta, Vijay, Tong, Yongfeng, Ponraj, Janarthanan, Salloum-Asfar, Salam, Mansour, Said, Al-Shaban, Fouad A., Kim, Hyung-Goo, Stanton, Lawrence W., Grivel, Jean-Charles, Abdulla, Sara A., Al-Shammari, Abeer R., Park, Yongsoo
Publicado 2022

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

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

A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders

por Ben-Mahmoud, Afif, Jun, Kyung Ran, Gupta, Vijay, Shastri, Pinang, de la Fuente, Alberto, Park, Yongsoo, Shin, Kyung Chul, Kim, Chong Ae, da Cruz, Aparecido Divino, Pinto, Irene Plaza, Minasi, Lysa Bernardes, Silva da Cruz, Alex, Faivre, Laurence, Callier, Patrick, Racine, Caroline, Layman, Lawrence C., Kong, Il-Keun, Kim, Cheol-Hee, Kim, Woo-Yang, Kim, Hyung-Goo
Publicado 2022

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

Targeted knockout of a chemokine-like gene increases anxiety and fear responses

por Choi, Jung-Hwa, Jeong, Yun-Mi, Kim, Sujin, Lee, Boyoung, Ariyasiri, Krishan, Kim, Hyun-Taek, Jung, Seung-Hyun, Hwang, Kyu-Seok, Choi, Tae-Ik, Park, Chul O, Huh, Won-Ki, Carl, Matthias, Rosenfeld, Jill A., Raskin, Salmo, Ma, Alan, Gecz, Jozef, Kim, Hyung-Goo, Kim, Jin-Soo, Shin, Ho-Chul, Park, Doo-Sang, Gerlai, Robert, Jamieson, Bradley B., Kim, Joon S., Iremonger, Karl J., Lee, Sang H., Shin, Hee-Sup, Kim, Cheol-Hee
Publicado 2018