|Disruption of neurexin 1 associated with autism spectrum disorder|
HG Kim, S Kishikawa, AW Higgins, IS Seong, DJ Donovan, Y Shen, ...
The American Journal of Human Genetics 82 (1), 199-207, 2008
|Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries|
ME Talkowski, JA Rosenfeld, I Blumenthal, V Pillalamarri, C Chiang, ...
Cell 149 (3), 525-537, 2012
|X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment|
LM Dibbens, PS Tarpey, K Hynes, MA Bayly, IE Scheffer, R Smith, ...
Nature genetics 40 (6), 776-781, 2008
|Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome|
HG Kim, I Kurth, F Lan, I Meliciani, W Wenzel, SH Eom, GB Kang, ...
The American Journal of Human Genetics 83 (4), 511-519, 2008
|Human chromosome 7: DNA sequence and biology|
SW Scherer, J Cheung, JR MacDonald, LR Osborne, K Nakabayashi, ...
Science 300 (5620), 767-772, 2003
|Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux|
W Lu, AM Van Eerde, X Fan, F Quintero-Rivera, S Kulkarni, H Ferguson, ...
The American Journal of Human Genetics 80 (4), 616-632, 2007
|WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome|
HG Kim, JW Ahn, I Kurth, R Ullmann, HT Kim, A Kulharya, KS Ha, ...
The American Journal of Human Genetics 87 (4), 465-479, 2010
|Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant|
SD Quaynor, EW Stradtman Jr, HG Kim, Y Shen, LP Chorich, ...
New England Journal of Medicine 369 (2), 164-171, 2013
|Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project|
AW Higgins, FS Alkuraya, AF Bosco, KK Brown, GAP Bruns, DJ Donovan, ...
The American Journal of Human Genetics 82 (3), 712-722, 2008
|Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders|
LS Nguyen, HG Kim, JA Rosenfeld, Y Shen, JF Gusella, Y Lacassie, ...
Human molecular genetics 22 (9), 1816-1825, 2013
|The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome|
SD Quaynor, HG Kim, EM Cappello, T Williams, LP Chorich, DP Bick, ...
Fertility and sterility 96 (6), 1424-1430. e6, 2011
|The molecular basis of impaired follicle-stimulating hormone action: evidence from human mutations and mouse models|
ET Siegel, HG Kim, HK Nishimoto, LC Layman
Reproductive Sciences 20 (3), 211-233, 2013
|Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome|
N Xu, HG Kim, B Bhagavath, SG Cho, JH Lee, K Ha, I Meliciani, W Wenzel, ...
Fertility and sterility 95 (5), 1613-1620. e7, 2011
|Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome|
SD Quaynor, ME Bosley, CG Duckworth, KR Porter, SH Kim, HG Kim, ...
Molecular and cellular endocrinology 437, 86-96, 2016
|Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1|
HG Kim, SR Herrick, E Lemyre, S Kishikawa, JA Salisz, S Seminara, ...
Journal of medical genetics 42 (8), 666-672, 2005
|Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism|
OH Kim, HJ Cho, E Han, TI Hong, K Ariyasiri, JH Choi, KS Hwang, ...
Molecular autism 8 (1), 1-14, 2017
|Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3–CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain|
HG Nothwang, HG Kim, J Aoki, M Geisterfer, S Kübart, RD Wegner, ...
Human molecular genetics 10 (8), 797-806, 2001
|Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies|
HG Kim, HT Kim, NT Leach, F Lan, R Ullmann, A Silahtaroglu, I Kurth, ...
The American Journal of Human Genetics 91 (1), 56-72, 2012
|Clinical manifestations of impaired GnRH neuron development and function|
HG Kim, B Bhagavath, LC Layman
Neurosignals 16 (2-3), 165-182, 2008
|The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome|
HG Kim, LC Layman
Molecular and cellular endocrinology 346 (1-2), 74-83, 2011