| Strong association of de novo copy number mutations with autism J Sebat, B Lakshmi, D Malhotra, J Troge, C Lese-Martin, T Walsh, ... Science 316 (5823), 445-449, 2007 | 3529 | 2007 |
| Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia T Walsh, JM McClellan, SE McCarthy, AM Addington, SB Pierce, ... science 320 (5875), 539-543, 2008 | 2171 | 2008 |
| Inherited DNA-repair gene mutations in men with metastatic prostate cancer CC Pritchard, J Mateo, MF Walsh, N De Sarkar, W Abida, H Beltran, ... New England Journal of Medicine 375 (5), 443-453, 2016 | 1757 | 2016 |
| Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing T Walsh, S Casadei, MK Lee, CC Pennil, AS Nord, AM Thornton, W Roeb, ... Proceedings of the National Academy of Sciences 108 (44), 18032-18037, 2011 | 1142 | 2011 |
| Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas KP Pennington, T Walsh, MI Harrell, MK Lee, CC Pennil, MH Rendi, ... Clinical Cancer Research 20 (3), 764-775, 2014 | 1110 | 2014 |
| Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer T Walsh, S Casadei, KH Coats, E Swisher, SM Stray, J Higgins, KC Roach, ... Jama 295 (12), 1379-1388, 2006 | 899 | 2006 |
| Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ... New England Journal of Medicine 359 (16), 1685-1699, 2008 | 864 | 2008 |
| Inherited mutations in women with ovarian carcinoma BM Norquist, MI Harrell, MF Brady, T Walsh, MK Lee, S Gulsuner, ... JAMA oncology 2 (4), 482-490, 2016 | 851 | 2016 |
| Microduplications of 16p11. 2 are associated with schizophrenia SE McCarthy, V Makarov, G Kirov, AM Addington, J McClellan, S Yoon, ... Nature genetics 41 (11), 1223-1227, 2009 | 844 | 2009 |
| Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy P Navon Elkan, SB Pierce, R Segel, T Walsh, J Barash, S Padeh, ... New England Journal of Medicine 370 (10), 921-931, 2014 | 705 | 2014 |
| A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay S Girirajan, JA Rosenfeld, GM Cooper, F Antonacci, P Siswara, A Itsara, ... Nature genetics 42 (3), 203-209, 2010 | 683 | 2010 |
| Ten genes for inherited breast cancer T Walsh, MC King Cancer cell 11 (2), 103-105, 2007 | 611 | 2007 |
| Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network S Gulsuner, T Walsh, AC Watts, MK Lee, AM Thornton, S Casadei, ... Cell 154 (3), 518-529, 2013 | 609 | 2013 |
| Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing T Walsh, MK Lee, S Casadei, AM Thornton, SM Stray, C Pennil, AS Nord, ... Proceedings of the National Academy of Sciences 107 (28), 12629-12633, 2010 | 585 | 2010 |
| Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy MY Zhang, JE Churpek, SB Keel, T Walsh, MK Lee, KR Loeb, S Gulsuner, ... Nature genetics 47 (2), 180-185, 2015 | 428 | 2015 |
| 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 | 428 | 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 | 400 | 2015 |
| A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia S Shah, KA Schrader, E Waanders, AE Timms, J Vijai, C Miething, ... Nature genetics 45 (10), 1226-1231, 2013 | 367 | 2013 |
| Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome SB Pierce, KM Chisholm, ED Lynch, MK Lee, T Walsh, JM Opitz, W Li, ... Proceedings of the National Academy of Sciences 108 (16), 6543-6548, 2011 | 347 | 2011 |
| Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82 T Walsh, H Shahin, T Elkan-Miller, MK Lee, AM Thornton, W Roeb, ... The American Journal of Human Genetics 87 (1), 90-94, 2010 | 344 | 2010 |
