G. Del Angel

Most-cited papers

1. A global reference for human genetic variation

   Taras K. Oleksyk, Adam Gonçalo R. David M. Richard M. Gonçalo R. David R. Auton Abecasis Altshuler Durbin Abecasis Bentley C, Adam Gonçalo R. Auton Abecasis, Adam Auton +496 more

   2015Nature17K citations Open access

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2. A framework for variation discovery and genotyping using next-generation DNA sequencing data

   M. DePristo, E. Banks, R. Poplin, K. Garimella +14 more

   2011Nature Genetics11K citations Open access

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3. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

   G. A. Van der Auwera, M. Carneiro, C. Hartl, R. Poplin +11 more

   2013Current Protocols in Bioinformatics6,801 citations Open access

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4. A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

   S. Kingsmore, Laurie D. Smith, Chris M. Kunard, M. Bainbridge +47 more

   2022American Journal of Human Genetics142 citations Open access

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5. 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, Christopher Negron, T. Steinbrecher +1 more

   2020Human Mutation58 citations Open access

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6. The Global ALPL gene variant classification project: Dedicated to deciphering variants.

   Mariam R Farman, Catherine W. Rehder, Theodora Malli, C. Rockman-Greenberg +17 more

   2023Bone56 citations Open access

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7. Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification

   Héctor Martín-Merinero, Yu-Zhou Zhang, Emilia Arjona, G. Del Angel +6 more

   2021Blood46 citations Open access

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8. Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa.

   P. Kishnani, G. Del Angel, Shanggen Zhou, E. Rush

   2021Molecular Genetics and Metabolism17 citations Open access

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9. Predicting mutations deleterious to function in beta-lactamase TEM1 using MM-GBSA

   Christopher Negron, D. Pearlman, G. Del Angel

   2019PLoS ONE13 citations Open access

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10. Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants

    L. Seefried, Anna Petryk, G. Del Angel, Felix Reder +1 more

    2024Molecular Biology Reports7 citations Open access

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11. 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 +1 more

    2021Molecular Genetics and Metabolism2 citations

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12. Response to Grosse et al.

    S. Kingsmore, Laurie D. Smith, Chris M. Kunard, M. Bainbridge +47 more

    2023American Journal of Human Genetics1 citations Open access

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13. Evaluation of the Path to Diagnosis and Time to Treatment in Patients with Light-Chain Amyloidosis Using the Komodo Claims Database

    Julia Catini, Q. Doan, J. Evans, Andrew R. Rava +6 more

    2022Blood1 citations

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14. Representation Learning of Human Diseases for Indication Expansion and Investment Decisions

    Cyrus Babak Ravandi, William R. Mowrey, Ayan Chatterjee, Fariba Khanshan +12 more

    2026bioRxiv0 citations Open access

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15. EVALUATION OF THE PATTERNS LEADING TO DIAGNOSIS IN PATIENTS WITH AMYLOID LIGHT-CHAIN AMYLOIDOSIS USING THE KOMODO DATABASE

    Julia Catini, Q. Doan, Jennifer Evans, B. Shah +6 more

    2022Journal of the American College of Cardiology0 citations Open access

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16. Peer Review #2 of "The Bacteria Genome Pipeline (BAGEP): an automated, scalable workflow for bacteria genomes with Snakemake (v0.2)"

    I. Olawoye, Simon D. W. Frost, Christian T. Happi, M. Achtman +220 more

    20200 citations Open access

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