Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution C Abbosh, NJ Birkbak, GA Wilson, M Jamal-Hanjani, T Constantin, ... Nature 545 (7655), 446-451, 2017 | 1689 | 2017 |
Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism SJ Sanders, AG Ercan-Sencicek, V Hus, R Luo, MT Murtha, ... Neuron 70 (5), 863-885, 2011 | 1483 | 2011 |
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma M Krauthammer, Y Kong, BH Ha, P Evans, A Bacchiocchi, JP McCusker, ... Nature genetics 44 (9), 1006-1014, 2012 | 1329 | 2012 |
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism UI Scholl, G Goh, G Stölting, RC De Oliveira, M Choi, JD Overton, ... Nature genetics 45 (9), 1050-1054, 2013 | 616 | 2013 |
Genomic landscape of cutaneous T cell lymphoma J Choi, G Goh, T Walradt, BS Hong, CG Bunick, K Chen, RD Bjornson, ... Nature genetics 47 (9), 1011-1019, 2015 | 430 | 2015 |
Fc-optimized anti-CD25 depletes tumor-infiltrating regulatory T cells and synergizes with PD-1 blockade to eradicate established tumors FA Vargas, AJS Furness, I Solomon, K Joshi, L Mekkaoui, MH Lesko, ... Immunity 46 (4), 577-586, 2017 | 419 | 2017 |
Mutational landscape of MCPyV-positive and MCPyV-negative Merkel cell carcinomas with implications for immunotherapy G Goh, T Walradt, V Markarov, A Blom, N Riaz, R Doumani, K Stafstrom, ... Oncotarget 7 (3), 3403, 2016 | 380 | 2016 |
Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing JW Kunstman, CC Juhlin, G Goh, TC Brown, A Stenman, JM Healy, ... Human molecular genetics 24 (8), 2318-2329, 2015 | 357 | 2015 |
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism UI Scholl, G Stölting, C Nelson-Williams, AA Vichot, M Choi, E Loring, ... elife 4, e06315, 2015 | 327 | 2015 |
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors G Goh, UI Scholl, JM Healy, M Choi, ML Prasad, C Nelson-Williams, ... Nature genetics 46 (6), 613-617, 2014 | 234 | 2014 |
Genetic landscape of metastatic and recurrent head and neck squamous cell carcinoma ML Hedberg, G Goh, SI Chiosea, JE Bauman, ML Freilino, Y Zeng, ... The Journal of clinical investigation 126 (1), 169-180, 2016 | 219 | 2016 |
DNA replication stress mediates APOBEC3 family mutagenesis in breast cancer N Kanu, MA Cerone, G Goh, LP Zalmas, J Bartkova, M Dietzen, ... Genome biology 17, 1-15, 2016 | 174 | 2016 |
Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma CC Juhlin, G Goh, JM Healy, AL Fonseca, UI Scholl, A Stenman, ... The Journal of Clinical Endocrinology & Metabolism 100 (3), E493-E502, 2015 | 159 | 2015 |
Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype UI Scholl, JM Healy, A Thiel, AL Fonseca, TC Brown, JW Kunstman, ... Clinical endocrinology 83 (6), 779-789, 2015 | 130 | 2015 |
Association and mutation analyses of 16p11. 2 autism candidate genes RA Kumar, CR Marshall, JA Badner, TD Babatz, Z Mukamel, KA Aldinger, ... PloS one 4 (2), e4582, 2009 | 115 | 2009 |
Application of whole exome sequencing to identify disease-causing variants in inherited human diseases G Goh, M Choi Genomics & informatics 10 (4), 214, 2012 | 108 | 2012 |
PRKACA mutations in cortisol-producing adenomas and adrenal hyperplasia: a single-center study of 60 cases A Thiel, AC Reis, M Haase, G Goh, M Schott, HS Willenberg, UI Scholl European journal of endocrinology 172 (6), 677-685, 2015 | 75 | 2015 |
Intratumoural evolutionary landscape of high-risk prostate cancer: the PROGENY study of genomic and immune parameters M Linch, G Goh, C Hiley, Y Shanmugabavan, N McGranahan, A Rowan, ... Annals of Oncology 28 (10), 2472-2480, 2017 | 67 | 2017 |
Whole‐exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene CC Juhlin, A Stenman, F Haglund, VE Clark, TC Brown, J Baranoski, ... Genes, Chromosomes and Cancer 54 (9), 542-554, 2015 | 66 | 2015 |
Identification of a gain-of-function STAT3 mutation (p.Y640F) in lymphocytic variant hypereosinophilic syndrome S Walker, C Wang, T Walradt, BS Hong, JR Tanner, JL Levinsohn, G Goh, ... Blood, The Journal of the American Society of Hematology 127 (7), 948-951, 2016 | 64 | 2016 |