Prevalence and spectrum of germline cancer susceptibility gene mutations among patients with early-onset colorectal cancer R Pearlman, WL Frankel, B Swanson, W Zhao, A Yilmaz, K Miller, ... JAMA oncology 3 (4), 464-471, 2017 | 602 | 2017 |
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy TC Hart, MC Gorry, PS Hart, AS Woodard, Z Shihabi, J Sandhu, B Shirts, ... Journal of medical genetics 39 (12), 882-892, 2002 | 570 | 2002 |
Genetic mechanisms of immune evasion in colorectal cancer CS Grasso, M Giannakis, DK Wells, T Hamada, XJ Mu, M Quist, JA Nowak, ... Cancer discovery 8 (6), 730-749, 2018 | 429 | 2018 |
Actionable, pathogenic incidental findings in 1,000 participants’ exomes MO Dorschner, LM Amendola, EH Turner, PD Robertson, BH Shirts, ... The American Journal of Human Genetics 93 (4), 631-640, 2013 | 419 | 2013 |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification LM Amendola, MO Dorschner, PD Robertson, JS Salama, R Hart, ... Genome research 25 (3), 305-315, 2015 | 374 | 2015 |
Sequence specificity of aminoglycoside‐induced stop codon readthrough: Potential implications for treatment of Duchenne muscular dystrophy MT Howard, BH Shirts, LM Petros, KM Flanigan, RF Gesteland, JF Atkins Annals of Neurology: Official Journal of the American Neurological …, 2000 | 306 | 2000 |
A network of dopaminergic gene variations implicated as risk factors for schizophrenia ME Talkowski, G Kirov, M Bamne, L Georgieva, G Torres, H Mansour, ... Human molecular genetics 17 (5), 747-758, 2008 | 180 | 2008 |
Clinical sequencing exploratory research consortium: accelerating evidence-based practice of genomic medicine RC Green, KAB Goddard, GP Jarvik, LM Amendola, PS Appelbaum, ... The American Journal of Human Genetics 98 (6), 1051-1066, 2016 | 170 | 2016 |
Assessment of tumor sequencing as a replacement for Lynch syndrome screening and current molecular tests for patients with colorectal cancer H Hampel, R Pearlman, M Beightol, W Zhao, D Jones, WL Frankel, ... JAMA oncology 4 (6), 806-813, 2018 | 163 | 2018 |
Next-generation sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: a cost-effectiveness analysis CJ Gallego, BH Shirts, CS Bennette, G Guzauskas, LM Amendola, ... Journal of Clinical Oncology 33 (18), 2084-2091, 2015 | 145 | 2015 |
Comparison of CDH1 penetrance estimates in clinically ascertained families vs families ascertained for multiple gastric cancers ME Roberts, JMO Ranola, ML Marshall, LR Susswein, S Graceffo, ... JAMA oncology 5 (9), 1325-1331, 2019 | 133 | 2019 |
Antibodies to cytomegalovirus and Herpes Simplex Virus 1 associated with cognitive function in schizophrenia BH Shirts, KM Prasad, MF Pogue-Geile, F Dickerson, RH Yolken, ... Schizophrenia research 106 (2-3), 268-274, 2008 | 131 | 2008 |
Are policy-makers interested in social research? Exploring the sources and uses of valued information among public servants in Australia B Head, M Ferguson, A Cherney, P Boreham Policy and Society 33 (2), 89-101, 2014 | 109 | 2014 |
Do we now know what inappropriate laboratory utilization is? An expanded systematic review of laboratory clinical audits RG Hauser, BH Shirts American journal of clinical pathology 141 (6), 774-783, 2014 | 99 | 2014 |
CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record BH Shirts, JS Salama, SJ Aronson, WK Chung, SW Gray, LA Hindorff, ... Journal of the American Medical Informatics Association 22 (6), 1231-1242, 2015 | 91 | 2015 |
Brain morphological changes associated with exposure to HSV1 in first-episode schizophrenia KMR Prasad, BH Shirts, RH Yolken, MS Keshavan, VL Nimgaonkar Molecular psychiatry 12 (1), 105-113, 2007 | 90 | 2007 |
Improving performance of multigene panels for genomic analysis of cancer predisposition BH Shirts, S Casadei, AL Jacobson, MK Lee, S Gulsuner, RL Bennett, ... Genetics in Medicine 18 (10), 974-981, 2016 | 87 | 2016 |
Genetic mechanisms of immune evasion in colorectal cancer. Cancer Discov. 2018; 8: 730–749. doi: 10.1158/2159-8290 CS Grasso, M Giannakis, DK Wells, T Hamada, XJ Mu, M Quist, JA Nowak, ... CD-17-1327.[Europe PMC free article][Abstract][CrossRef][Google Scholar], 0 | 82 | |
Association study of IL10, IL1β, and IL1RN and schizophrenia using tag SNPs from a comprehensive database: Suggestive association with rs16944 at IL1β BH Shirts, J Wood, RH Yolken, VL Nimgaonkar Schizophrenia research 88 (1-3), 235-244, 2006 | 72 | 2006 |
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories JM O’Daniel, HM McLaughlin, LM Amendola, SJ Bale, JS Berg, D Bick, ... Genetics in Medicine 19 (5), 575-582, 2017 | 71 | 2017 |