Anthony Philippakis
Anthony Philippakis
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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
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
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
Compact, universal DNA microarrays to comprehensively determine transcription-factor binding site specificities
MF Berger, AA Philippakis, AM Qureshi, FS He, PW Estep III, ML Bulyk
Nature biotechnology 24 (11), 1429-1435, 2006
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
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
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
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
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
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
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
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
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
Systematic identification of mammalian regulatory motifs' target genes and functions
JB Warner, AA Philippakis, SA Jaeger, FS He, J Lin, ML Bulyk
Nature methods 5 (4), 347-353, 2008
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
Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction
J Shea, V Agarwala, AA Philippakis, J Maguire, E Banks, M DePristo, ...
Nature genetics 43 (8), 801-805, 2011
Consent codes: upholding standard data use conditions
SOM Dyke, AA Philippakis, J Rambla De Argila, DN Paltoo, ...
PLoS genetics 12 (1), e1005772, 2016
An open resource of structural variation for medical and population genetics
RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, AV Khera, ...
BioRxiv, 578674, 2019
Expression-Guided In Silico Evaluation of Candidate Cis Regulatory Codes for Drosophila Muscle Founder Cells
AA Philippakis, BW Busser, SS Gisselbrecht, FS He, B Estrada, ...
PLoS computational biology 2 (5), e53, 2006
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
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