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Anthony Philippakis
Anthony Philippakis
Unknown affiliation
Verified email at google.com
Title
Cited by
Cited by
Year
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
114912011
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
87172010
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
11332009
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
7852006
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
7072011
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
7012008
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
6802020
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
4872009
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
4822015
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
3742017
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
3212020
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
2542021
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
2382013
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
1642020
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
1262021
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
1172022
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
1142008
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
1112022
Unsupervised removal of systematic background noise from droplet-based single-cell experiments using CellBender
SJ Fleming, MD Chaffin, A Arduini, AD Akkad, E Banks, JC Marioni, ...
Nature methods 20 (9), 1323-1335, 2023
1002023
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
992022
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