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Ali Torkamani
Ali Torkamani
VP Actio Biosciences
Overená e-mailová adresa na: scripps.edu
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Citované v
Citované v
Rok
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
17112008
The personal and clinical utility of polygenic risk scores
A Torkamani, NE Wineinger, EJ Topol
Nature Reviews Genetics 19 (9), 581-590, 2018
15702018
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
8682019
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
5722010
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
4752010
Pathway analysis of seven common diseases assessed by genome-wide association
A Torkamani, EJ Topol, NJ Schork
Genomics 92 (5), 265-272, 2008
4562008
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
4292020
Artificial intelligence in clinical and genomic diagnostics
R Dias, A Torkamani
Genome medicine 11 (1), 70, 2019
4062019
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
3912011
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
3322013
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
R Chia, MS Sabir, S Bandres-Ciga, S Saez-Atienzar, RH Reynolds, ...
Nature genetics 53 (3), 294-303, 2021
3002021
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
2472011
Reshaping antibody diversity
F Wang, DC Ekiert, I Ahmad, W Yu, Y Zhang, O Bazirgan, A Torkamani, ...
Cell 153 (6), 1379-1393, 2013
2392013
Whole-genome sequencing of a healthy aging cohort
GA Erikson, DL Bodian, M Rueda, B Molparia, ER Scott, ...
Cell 165 (4), 1002-1011, 2016
2372016
High-definition medicine
A Torkamani, KG Andersen, SR Steinhubl, EJ Topol
Cell 170 (5), 828-843, 2017
2282017
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
2262017
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, 1-7, 2016
2012016
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
1872012
Digital medical tools and sensors
EJ Topol, SR Steinhubl, A Torkamani
Jama 313 (4), 353-354, 2015
1772015
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
1702014
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Články 1–20