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

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, et al.

ArticleIssue Date2022CitationFrontiers in Molecular Neuroscience, v.15PublisherFrontiers Media S.A.
SCISCIESCOPUS
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability

Labonne, Jonathan D. J.; Lee, Kang-Han; Iwase, Shigeki; Kong, Il-Keun; Diamond, Michael P.; Layman, Lawrence C.; Kim, Cheol-Hee; Kim, Hyung-Goo

ArticleIssue Date2016CitationHUMAN GENETICS, v.135, no.7, pp 757 - 771PublisherSPRINGER
SCIESCOPUS
Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31open access

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, et al.

ArticleIssue Date2020CitationJOURNAL OF CLINICAL MEDICINE, v.9, no.1PublisherMDPI
SCIESCOPUS
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autismopen access

Kim, Hyung-Goo; Rosenfeld, Jill A.; Scott, Daryl A.; Benedicte, Gerard; Labonne, Jonathan D.; Brown, Jason; McGuire, Marianne; Mahida, Sonal; Naidu, Sakkubai; Gutierrez, Jacqueline, et al.

ArticleIssue Date2019CitationMOLECULAR AUTISM, v.10, no.1PublisherBMC
SCISCIESCOPUS
Impact of NAD(P)H:Quinone Oxidoreductase-1 on Pigmentationopen access

Choi, Tae-Young; Sohn, Kyung-Cheol; Kim, Jin-Hwa; Kim, Seong-Min; Kim, Cheol-Hee; Hwang, Jae-Sung; Lee, Jeung-Hoon; Kim, Chang Deok; Yoon, Tae-Jin

ArticleIssue Date2010CitationJOURNAL OF INVESTIGATIVE DERMATOLOGY, v.130, no.3, pp 784 - 792PublisherELSEVIER SCIENCE INC
SCIESCOPUS
Understanding the mechanisms of coastal PM2.5 formation driven by land-sea breeze recirculation and ship emissions

Yoo, Jung-Woo; Park, Soon-Young; Kim, Jiseon; Chae, Daeun; Moon, Jeonghyeok; Kim, Cheol-Hee; Park, Jeongho; Kim, Tae-Hyeung; Lee, Soon-Hwan

ArticleIssue Date2026CitationEnvironmental Pollution, v.390PublisherPergamon Press Ltd.
SCIESCOPUS
Zebrafish as a new model for phenotype-based screening of melanogenic regulatory compounds

Choi, Tae-Young; Kim, Jin-Hwa; Ko, Dong Han; Kim, Cheol-Hee; Hwang, Jae-Sung; Ahn, Soomi; Kim, Sun Yeou; Kim, Chang-Deok; Lee, Jeung-Hoon; Yoon, Tae-Jin

ArticleIssue Date2007CitationPIGMENT CELL RESEARCH, v.20, no.2, pp 120 - 127PublisherWILEY
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