| 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 | 723 | 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 | 649 | 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 | 504 | 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 | 389 | 2008 |
| Human chromosome 7: DNA sequence and biology SW Scherer, J Cheung, JR MacDonald, LR Osborne, K Nakabayashi, ... Science 300 (5620), 767-772, 2003 | 274 | 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 | 246 | 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 | 242 | 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 | 163 | 2013 |
| 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 | 151 | 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 | 140 | 2008 |
| 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, 1-14, 2017 | 120 | 2017 |
| 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 | 116 | 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 | 94 | 2013 |
| 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 | 93 | 2016 |
| 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 | 82 | 2011 |
| 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 | 81 | 2012 |
| 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 | 78 | 2005 |
| Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families LS Williams, DD Eksi, Y Shen, AC Lossie, LP Chorich, ME Sullivan, ... Fertility and sterility 108 (1), 145-151. e2, 2017 | 75 | 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 | 67 | 2001 |
| Autism and intellectual disability-associated KIRREL3 interacts with neuronal proteins MAP1B and MYO16 with potential roles in neurodevelopment YF Liu, SM Sowell, Y Luo, A Chaubey, RS Cameron, HG Kim, ... PloS one 10 (4), e0123106, 2015 | 65 | 2015 |
