Identification of ALK as a major familial neuroblastoma predisposition gene YP Mossé, M Laudenslager, L Longo, KA Cole, A Wood, EF Attiyeh, ... Nature 455 (7215), 930-935, 2008 | 1544 | 2008 |
The personal and clinical utility of polygenic risk scores A Torkamani, NE Wineinger, EJ Topol Nature Reviews Genetics 19 (9), 581-590, 2018 | 1126 | 2018 |
A primer on deep learning in genomics J Zou, M Huss, A Abid, P Mohammadi, A Torkamani, A Telenti Nature genetics 51 (1), 12-18, 2019 | 588 | 2019 |
Statistical analysis strategies for association studies involving rare variants V Bansal, O Libiger, A Torkamani, NJ Schork Nature Reviews Genetics 11 (11), 773-785, 2010 | 544 | 2010 |
Pathway analysis of seven common diseases assessed by genome-wide association A Torkamani, EJ Topol, NJ Schork Genomics 92 (5), 265-272, 2008 | 437 | 2008 |
Kinase mutations in human disease: interpreting genotype–phenotype relationships P Lahiry, A Torkamani, NJ Schork, RA Hegele Nature Reviews Genetics 11 (1), 60-74, 2010 | 388 | 2010 |
The importance of phase information for human genomics R Tewhey, V Bansal, A Torkamani, EJ Topol, NJ Schork Nature Reviews Genetics 12 (3), 215-223, 2011 | 343 | 2011 |
All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs AJ Schork, WK Thompson, P Pham, A Torkamani, JC Roddey, PF Sullivan, ... PLoS genetics 9 (4), e1003449, 2013 | 303 | 2013 |
CCCTC-binding factor (CTCF) and cohesin influence the genomic architecture of the Igh locus and antisense transcription in pro-B cells SC Degner, J Verma-Gaur, TP Wong, C Bossen, GM Iverson, ... Proceedings of the National Academy of Sciences 108 (23), 9566-9571, 2011 | 232 | 2011 |
Whole-genome sequencing of a healthy aging cohort GA Erikson, DL Bodian, M Rueda, B Molparia, ER Scott, ... Cell 165 (4), 1002-1011, 2016 | 209 | 2016 |
Artificial intelligence in clinical and genomic diagnostics R Dias, A Torkamani Genome medicine 11 (1), 1-12, 2019 | 205 | 2019 |
Minimum information about clinical artificial intelligence modeling: the MI-CLAIM checklist B Norgeot, G Quer, BK Beaulieu-Jones, A Torkamani, R Dias, ... Nature medicine 26 (9), 1320-1324, 2020 | 203 | 2020 |
Reshaping antibody diversity F Wang, DC Ekiert, I Ahmad, W Yu, Y Zhang, O Bazirgan, A Torkamani, ... Cell 153 (6), 1379-1393, 2013 | 200 | 2013 |
High-definition medicine A Torkamani, KG Andersen, SR Steinhubl, EJ Topol Cell 170 (5), 828-843, 2017 | 182 | 2017 |
Influence of donor age on induced pluripotent stem cells V Lo Sardo, W Ferguson, GA Erikson, EJ Topol, KK Baldwin, A Torkamani Nature biotechnology 35 (1), 69-74, 2017 | 177 | 2017 |
High-performance web services for querying gene and variant annotation J Xin, A Mark, C Afrasiabi, G Tsueng, M Juchler, N Gopal, GS Stupp, ... Genome biology 17 (1), 1-7, 2016 | 169 | 2016 |
Efficient and sequence-independent replication of DNA containing a third base pair establishes a functional six-letter genetic alphabet DA Malyshev, K Dhami, HT Quach, T Lavergne, P Ordoukhanian, ... Proceedings of the National Academy of Sciences 109 (30), 12005-12010, 2012 | 165 | 2012 |
Coexpression network analysis of neural tissue reveals perturbations in developmental processes in schizophrenia A Torkamani, B Dean, NJ Schork, EA Thomas Genome research 20 (4), 403-412, 2010 | 159 | 2010 |
Digital medical tools and sensors EJ Topol, SR Steinhubl, A Torkamani Jama 313 (4), 353-354, 2015 | 154 | 2015 |
De novo KCNB1 mutations in epileptic encephalopathy A Torkamani, K Bersell, BS Jorge, RL Bjork Jr, JR Friedman, CS Bloss, ... Annals of neurology 76 (4), 529-540, 2014 | 144 | 2014 |