Guillermo del Angel
AstraZeneca (Australia)(AU)AstraZeneca (Japan)(JP)
Publications by Year
Research Areas
Genomics and Rare Diseases, Alkaline Phosphatase Research Studies, Genetic Associations and Epidemiology, Biochemical and Molecular Research, Heterotopic Ossification and Related Conditions
Most-Cited Works
- → A framework for variation discovery and genotyping using next-generation DNA sequencing data(2011)12,242 cited
- → From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline(2013)7,118 cited
- → Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel(2014)452 cited
- → A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases(2022)162 cited
- → Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification(2021)55 cited
- → The Global ALPL gene variant classification project: Dedicated to deciphering variants(2023)55 cited
- → Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia(2020)54 cited
- → Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences(2024)42 cited
- → Large‐scale functionalLIPAvariant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency(2019)21 cited
- → Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa(2021)20 cited