| Melanomas acquire resistance to B-RAF (V600E) inhibition by RTK or N-RAS upregulation R Nazarian, H Shi, QI Wang, X Kong, RC Koya, H Lee, Z Chen, MK Lee, ... Nature 468 (7326), 973-977, 2010 | 2589 | 2010 |
| Clinical exome sequencing for genetic identification of rare Mendelian disorders H Lee, JL Deignan, N Dorrani, SP Strom, S Kantarci, F Quintero-Rivera, ... Jama 312 (18), 1880-1887, 2014 | 1075 | 2014 |
| Melanoma whole-exome sequencing identifies V600EB-RAF amplification-mediated acquired B-RAF inhibitor resistance H Shi, G Moriceau, X Kong, MK Lee, H Lee, RC Koya, C Ng, T Chodon, ... Nature communications 3 (1), 724, 2012 | 815 | 2012 |
| Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV JF Sathirapongsasuti, H Lee, BAJ Horst, G Brunner, AJ Cochran, S Binder, ... Bioinformatics 27 (19), 2648-2654, 2011 | 514 | 2011 |
| Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions MJ Ombrello, EF Remmers, G Sun, AF Freeman, S Datta, P Torabi-Parizi, ... New England Journal of Medicine 366 (4), 330-338, 2012 | 437 | 2012 |
| U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line MJ Clark, N Homer, BD O'Connor, Z Chen, A Eskin, H Lee, B Merriman, ... PLoS genetics 6 (1), e1000832, 2010 | 386 | 2010 |
| Mutations in PYCR1 cause cutis laxa with progeroid features B Reversade, N Escande-Beillard, A Dimopoulou, B Fischer, SC Chng, ... Nature genetics 41 (9), 1016-1021, 2009 | 261 | 2009 |
| Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia BL Fogel, H Lee, JL Deignan, SP Strom, S Kantarci, X Wang, ... JAMA neurology 71 (10), 1237-1246, 2014 | 251 | 2014 |
| ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome T Willer, H Lee, M Lommel, T Yoshida-Moriguchi, DBV De Bernabe, ... Nature genetics 44 (5), 575-580, 2012 | 239 | 2012 |
| Exome sequencing for the diagnosis of 46, XY disorders of sex development RM Baxter, VA Arboleda, H Lee, H Barseghyan, MP Adam, PY Fechner, ... The Journal of Clinical Endocrinology & Metabolism 100 (2), E333-E344, 2015 | 225 | 2015 |
| SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function T Yoshida-Moriguchi, T Willer, ME Anderson, D Venzke, T Whyte, ... Science 341 (6148), 896-899, 2013 | 225 | 2013 |
| Identification of EpCAM as the gene for congenital tufting enteropathy M Sivagnanam, JL Mueller, H Lee, Z Chen, SF Nelson, D Turner, ... Gastroenterology 135 (2), 429-437, 2008 | 219 | 2008 |
| Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome VA Arboleda, H Lee, R Parnaik, A Fleming, A Banerjee, ... Nature genetics 44 (7), 788-792, 2012 | 202 | 2012 |
| MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan, MF Wangler, S Yamamoto, ... The American Journal of Human Genetics 100 (6), 843-853, 2017 | 177 | 2017 |
| Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1 DR Goudie, M D'Alessandro, B Merriman, H Lee, I Szeverényi, S Avery, ... Nature genetics 43 (4), 365-369, 2011 | 175 | 2011 |
| Accuracy of phenotyping of autistic children based on internet implemented parent report H Lee, AR Marvin, T Watson, J Piggot, JK Law, PA Law, JN Constantino, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153 …, 2010 | 173 | 2010 |
| The undiagnosed diseases network: accelerating discovery about health and disease RB Ramoni, JJ Mulvihill, DR Adams, P Allard, EA Ashley, JA Bernstein, ... The American Journal of Human Genetics 100 (2), 185-192, 2017 | 159 | 2017 |
| Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure A Lacombe, H Lee, L Zahed, M Choucair, JM Muller, SF Nelson, ... The American Journal of Human Genetics 79 (1), 113-119, 2006 | 158 | 2006 |
| Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory SP Strom, H Lee, K Das, E Vilain, SF Nelson, WW Grody, JL Deignan Genetics in Medicine 16 (7), 510-515, 2014 | 152 | 2014 |
| Diagnostic utility of transcriptome sequencing for rare Mendelian diseases H Lee, AY Huang, L Wang, AJ Yoon, G Renteria, A Eskin, RH Signer, ... Genetics in Medicine 22 (3), 490-499, 2020 | 149 | 2020 |
