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Guillermo del Angel
Guillermo del Angel
AstraZeneca, Centre for Genomics Research
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), 491-498, 2011
117882011
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
83012012
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
55652013
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
O Delaneau, J Marchini
Nature communications 5 (1), 3934, 2014
4452014
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
SF Kingsmore, LD Smith, CM Kunard, M Bainbridge, S Batalov, W Benson, ...
The American Journal of Human Genetics 109 (9), 1605-1619, 2022
922022
Current protocols in bioinformatics
GA Van der Auwera
(No Title), 11.10. 1, 2013
842013
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
402020
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification
H Martín Merinero, Y Zhang, E Arjona, G Del Angel, R Goodfellow, ...
Blood, The Journal of the American Society of Hematology 138 (22), 2185-2201, 2021
382021
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
332004
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
162019
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
142019
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
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
82000
The Global ALPL gene variant classification project: Dedicated to deciphering variants
MR Farman, C Rehder, T Malli, C Rockman-Greenberg, K Dahir, ...
Bone 178, 116947, 2024
62024
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
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
42021
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
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, 2001
32001
Lysosomal acid lipase deficiency compositions and methods
A Hutchinson, JVW Reynders, G Del Angel, N Jain, CD FORBES, XQ Ren, ...
US Patent 11,235,036, 2022
22022
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Articles 1–20