Kamu erişimi zorunlu olan makaleler - Anthony PhilippakisDaha fazla bilgi edinin
GenelNIHAHALeducq Foundation, USAMRCCIHRGenome CanadaWellcomeHHMIEuropean CommissionDoris Duke Charitable FoundationGatesNSERCBHFGovernment of ItalyNSFSNSFDHFDoDNHMRCDFGAcademy of FinlandNIHRBusiness FinlandDOEVAFWOEMBLBanking Foundation "la Caixa"TelethonNWOSwedish Research CouncilZonMwGovernment of SpainHealth Data Research, UKMedical Research Future Fund, AustraliaCZI
Bir yerde sunuluyor: 94
A framework for variation discovery and genotyping using next-generation DNA sequencing data
MA DePristo, E Banks, R Poplin, KV Garimella, JR Maguire, C Hartl, ...
Nature genetics 43 (5), 491-498, 2011
Zorunlu olanlar: US National Institutes of Health
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
Zorunlu olanlar: Swiss National Science Foundation, US National Institutes of Health, Howard …
Diversity and complexity in DNA recognition by transcription factors
G Badis, MF Berger, AA Philippakis, S Talukder, AR Gehrke, SA Jaeger, ...
Science 324 (5935), 1720-1723, 2009
Zorunlu olanlar: US National Institutes of Health, Canadian Institutes of Health Research …
A structural variation reference for medical and population genetics
RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, LC Francioli, ...
Nature 581 (7809), 444-451, 2020
Zorunlu olanlar: US National Science Foundation, Swiss National Science Foundation, US …
Demographic history and rare allele sharing among human populations
S Gravel, BM Henn, RN Gutenkunst, AR Indap, GT Marth, AG Clark, F Yu, ...
Proceedings of the National Academy of Sciences 108 (29), 11983-11988, 2011
Zorunlu olanlar: US National Institutes of Health
Variation in homeodomain DNA binding revealed by high-resolution analysis of sequence preferences
MF Berger, G Badis, AR Gehrke, S Talukder, AA Philippakis, ...
Cell 133 (7), 1266-1276, 2008
Zorunlu olanlar: US National Institutes of Health, Canadian Institutes of Health Research …
The Matchmaker Exchange: a platform for rare disease gene discovery
AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ...
Human mutation 36 (10), 915-921, 2015
Zorunlu olanlar: US Department of Energy, US National Institutes of Health, Canadian …
High-resolution DNA-binding specificity analysis of yeast transcription factors
C Zhu, KJRP Byers, RP McCord, Z Shi, MF Berger, DE Newburger, ...
Genome research 19 (4), 556-566, 2009
Zorunlu olanlar: US National Institutes of Health
International cooperation to enable the diagnosis of all rare genetic diseases
KM Boycott, A Rath, JX Chong, T Hartley, FS Alkuraya, G Baynam, ...
The American Journal of Human Genetics 100 (5), 695-705, 2017
Zorunlu olanlar: US National Institutes of Health, Canadian Institutes of Health Research …
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
AC Fahed, M Wang, JR Homburger, AP Patel, AG Bick, CL Neben, C Lai, ...
Nature communications 11 (1), 3635, 2020
Zorunlu olanlar: US National Institutes of Health, American Heart Association, Leducq …
Phylogenetic analysis of SARS-CoV-2 in Boston highlights the impact of superspreading events
JE Lemieux, KJ Siddle, BM Shaw, C Loreth, SF Schaffner, ...
Science 371 (6529), eabe3261, 2021
Zorunlu olanlar: Bill & Melinda Gates Foundation, US National Institutes of Health, Howard …
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
B Coste, G Houge, MF Murray, N Stitziel, M Bandell, MA Giovanni, ...
Proceedings of the National Academy of Sciences 110 (12), 4667-4672, 2013
Zorunlu olanlar: US National Institutes of Health
Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy
JP Pirruccello, A Bick, M Wang, M Chaffin, S Friedman, J Yao, X Guo, ...
Nature communications 11 (1), 2254, 2020
Zorunlu olanlar: US National Institutes of Health, American Heart Association, Leducq …
The All of Us Research Program: data quality, utility, and diversity
AH Ramirez, L Sulieman, DJ Schlueter, A Halvorson, J Qian, ...
Patterns 3 (8), 2022
Zorunlu olanlar: US National Institutes of Health
ECG-based deep learning and clinical risk factors to predict atrial fibrillation
S Khurshid, S Friedman, C Reeder, P Di Achille, N Diamant, P Singh, ...
Circulation 145 (2), 122-133, 2022
Zorunlu olanlar: US National Institutes of Health, American Heart Association, British Heart …
GA4GH: International policies and standards for data sharing across genomic research and healthcare
HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz, LJ Babb, ...
Cell genomics 1 (2), 2021
Zorunlu olanlar: US National Institutes of Health, Howard Hughes Medical Institute, Canadian …
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes
KJ Karczewski, M Solomonson, KR Chao, JK Goodrich, G Tiao, W Lu, ...
Cell Genomics 2 (9), 2022
Zorunlu olanlar: US National Institutes of Health
Deep learning enables genetic analysis of the human thoracic aorta
JP Pirruccello, MD Chaffin, EL Chou, SJ Fleming, H Lin, M Nekoui, ...
Nature genetics 54 (1), 40-51, 2022
Zorunlu olanlar: US National Institutes of Health, American Heart Association, UK Medical …
Limitations of contemporary guidelines for managing patients at high genetic risk of coronary artery disease
KG Aragam, A Dobbyn, R Judy, M Chaffin, K Chaudhary, G Hindy, ...
Journal of the American College of Cardiology 75 (22), 2769-2780, 2020
Zorunlu olanlar: US National Institutes of Health, US Department of Veterans Affairs …
Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space
MC Schatz, AA Philippakis, E Afgan, E Banks, VJ Carey, RJ Carroll, ...
Cell Genomics 2 (1), 2022
Zorunlu olanlar: US National Institutes of Health
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