Guillermo del Angel
Guillermo del Angel
Alexion Pharmaceuticals
Verified email at cornell.edu
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, 2011
87152011
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
70122012
From FastQ data to high‐confidence variant calls: the genome analysis toolkit best practices pipeline
GA Van der Auwera, MO Carneiro, C Hartl, R Poplin, G Del Angel, ...
Current protocols in bioinformatics 43 (1), 11.10. 1-11.10. 33, 2013
38632013
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
O Delaneau, J Marchini
Nature communications 5 (1), 1-9, 2014
2942014
Current protocols in bioinformatics
GA Van der Auwera, MO Carneiro, C Hartl, R Poplin, G Del Angel, ...
Curr. Protoc. Bioinforma 11 (11.10), 1-11.10, 2002
1002002
Optimal power and retransmission control policies for random access systems
G del Angel, TL Fine
IEEE/ACM Transactions on Networking 12 (6), 1156-1166, 2004
292004
Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia
G Del Angel, J Reynders, C Negron, T Steinbrecher, E Mornet
Human mutation 41 (7), 1250-1262, 2020
92020
Information capacity and power control for slotted Aloha random-access systems
G del Angel, TL Fine
IEEE transactions on information theory 51 (12), 4074-4090, 2005
92005
other authors (2011)
MA DePristo, E Banks, R Poplin, KV Garimella, JR Maguire, C Hartl, ...
A framework for variation discovery and genotyping using next-generation DNA …, 0
8*
Multi-tap frequency domain equalization with decision feedback and trellis decoding
G Del Angel, A Friedmann, S Sandberg, R Gross, P Heller
US Patent App. 11/748,806, 2007
62007
Randomized power control strategies for optimization of multiple access radio systems
G del Angel, TL Fine
Proc. 38th Annu. Allerton Conf. Communication, Control and Computing, 327-336, 2000
62000
Large‐scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency
G Del Angel, AT Hutchinson, NK Jain, CD Forbes, J Reynders
Human mutation 40 (11), 2007-2020, 2019
52019
Multi-tap frequency domain equalization with decision feedback and trellis decoding
G Del Angel, A Friedmann, S Sandberg, R Gross, P Heller
US Patent App. 12/783,737, 2010
42010
Novel LIPA mutations resulting in lysosomal acid lipase deficiency
J Reynders, BK Burton, G del Angel
Molecular Genetics and Metabolism 1 (120), S114-S115, 2017
32017
Multi-tap frequency domain equalization with decision feedback and trellis decoding
G Del Angel, A Friedmann, S Sandberg, R Gross, P Heller
US Patent App. 12/783,733, 2010
32010
Capacity Considerations, Power Control and Protocols for the Slotted Random Access Channel
G Del Angel
Cornell University, Aug., 2001
32001
Predicting mutations deleterious to function in beta-lactamase TEM1 using MM-GBSA
C Negron, DA Pearlman, G Del Angel
Plos one 14 (3), e0214015, 2019
22019
Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa
PS Kishnani, G Del Angel, S Zhou, ET Rush
Molecular genetics and metabolism 133 (1), 113-121, 2021
2021
Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States
E Rush, G del Angel, T Bates, S Brugger, R Steiner
MOLECULAR GENETICS AND METABOLISM 132, S91-S91, 2021
2021
Lysosomal acid lipase deficiency compositions and methods
A Hutchinson, JVW Reynders, G Del Angel, N Jain, CD FORBES, XQ Ren, ...
US Patent App. 16/308,558, 2019
2019
The system can't perform the operation now. Try again later.
Articles 1–20