Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Q Zhang, P Bastard, Z Liu, J Le Pen, M Moncada-Velez, J Chen, M Ogishi, ... Science 370 (6515), eabd4570, 2020 | 2293 | 2020 |
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19 T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ... Science immunology 6 (62), eabl4348, 2021 | 371 | 2021 |
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 | 277 | 2021 |
Population genomics studies identify signatures of global dispersal and drug resistance in Plasmodium vivax DN Hupalo, Z Luo, A Melnikov, PL Sutton, P Rogov, A Escalante, ... Nature genetics 48 (8), 953-958, 2016 | 191 | 2016 |
Recurrent Adaptation in RNA Interference Genes Across the Drosophila Phylogeny B Kolaczkowski, DN Hupalo, AD Kern Molecular biology and evolution 28 (2), 1033-1042, 2011 | 88 | 2011 |
Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis R Dewan, R Chia, J Ding, RA Hickman, TD Stein, Y Abramzon, S Ahmed, ... Neuron 109 (3), 448-460. e4, 2021 | 79 | 2021 |
Comparison of Combat Gauze and TraumaStat in two severe groin injury models F Arnaud, K Teranishi, T Okada, D Parreño-Sacdalan, D Hupalo, ... Journal of Surgical Research 169 (1), 92-98, 2011 | 73 | 2011 |
Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis JO Johnson, R Chia, DE Miller, R Li, R Kumaran, Y Abramzon, ... JAMA neurology 78 (10), 1236-1248, 2021 | 63 | 2021 |
The genetic architecture of Parkinson disease in Spain: characterizing population‐specific risk, differential haplotype structures, and providing etiologic insight S Bandres‐Ciga, S Ahmed, MS Sabir, C Blauwendraat, ... Movement Disorders 34 (12), 1851-1863, 2019 | 62 | 2019 |
Evaluation of coagulation stages of hemorrhaged swine: comparison of thromboelastography and rotational elastometry T Tomori, D Hupalo, K Teranishi, S Michaud, M Hammett, D Freilich, ... Blood Coagulation & Fibrinolysis 21 (1), 20-27, 2010 | 54 | 2010 |
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 D Matuozzo, E Talouarn, A Marchal, P Zhang, J Manry, Y Seeleuthner, ... Genome medicine 15 (1), 22, 2023 | 52 | 2023 |
Conservation and functional element discovery in 20 angiosperm plant genomes D Hupalo, AD Kern Molecular biology and evolution 30 (7), 1729-1744, 2013 | 46 | 2013 |
Computational analysis and characterization of UCE-like elements (ULEs) in plant genomes K Kritsas, SE Wuest, D Hupalo, AD Kern, T Wicker, U Grossniklaus Genome research 22 (12), 2455-2466, 2012 | 37 | 2012 |
Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype Y Lee, AW Wessel, J Xu, JG Reinke, E Lee, SM Kim, AP Hsu, ... The Journal of clinical investigation 132 (6), 2022 | 30 | 2022 |
Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred S Saez-Atienzar, CL Dalgard, J Ding, A Chiò, C Alba, DN Hupalo, ... Neurology 95 (22), 1015-1018, 2020 | 30 | 2020 |
Population genetics, evolutionary genomics, and genome-wide studies of malaria: a view across the International Centers of Excellence for Malaria Research JM Carlton, SK Volkman, S Uplekar, DN Hupalo, JMP Alves, L Cui, ... The American journal of tropical medicine and hygiene 93 (3 Suppl), 87, 2015 | 25 | 2015 |
The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism E Bressan, X Reed, V Bansal, E Hutchins, MM Cobb, MG Webb, E Alsop, ... Cell genomics 3 (3), 2023 | 24 | 2023 |
The impact of genomics on population genetics of parasitic diseases DN Hupalo, M Bradic, JM Carlton Current opinion in microbiology 23, 49-54, 2015 | 24 | 2015 |
Torin 2 Derivative, NCATS-SM3710, Has Potent Multistage Antimalarial Activity through Inhibition of P. falciparum Phosphatidylinositol 4-Kinase (Pf PI4KIIIβ) K Krishnan, P Ziniel, H Li, X Huang, D Hupalo, N Gombakomba, ... ACS Pharmacology & Translational Science 3 (5), 948-964, 2020 | 22 | 2020 |
Genome-wide analysis of off-target CRISPR/Cas9 activity in single-cell-derived human hematopoietic stem and progenitor cell clones RH Smith, YC Chen, F Seifuddin, D Hupalo, C Alba, R Reger, X Tian, ... Genes 11 (12), 1501, 2020 | 18 | 2020 |