| 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 | 11532 | 2011 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8228 | 2012 |
| 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 | 5363 | 2013 |
| 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 | 434 | 2014 |
| Current protocols in bioinformatics GA Van der Auwera (No Title), 11.10. 1, 2013 | 92 | 2013 |
| 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 | 80 | 2022 |
| 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 | 39 | 2020 |
| 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 | 34 | 2021 |
| 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 | 33 | 2004 |
| 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 | 16 | 2019 |
| 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 | 12 | 2019 |
| 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 | 9 | 2005 |
| 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 | 7 | 2000 |
| 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 | 6 | 2007 |
| 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 | 4 | 2021 |
| 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 | 4 | 2010 |
| 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 | 3 | 2010 |
| Capacity considerations, power control and protocols for the slotted random access channel G Del Angel Cornell University, 2001 | 3 | 2001 |
| 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 | 2 | 2024 |
| 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 | 2 | 2022 |
