Personal information

No personal information available

Activities

Works (4)

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

Molecular Biology Reports
2024-12 | Journal article
Contributors: Lothar Seefried; Anna Petryk; Guillermo del Angel; Felix Reder; Peter Bauer
Source: check_circle
Crossref

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

Blood
2021-12-02 | Journal article
Contributors: Hector Martín Merinero; Yuzhou Zhang; Emilia Arjona; Guillermo del Angel; Renee Goodfellow; Elena Gomez-Rubio; Rui-Ru Ji; Malkoa Michelena; Richard J. H. Smith; Santiago Rodríguez de Córdoba
Source: check_circle
Crossref

Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia

Human Mutation
2020-07-11 | Journal article
Contributors: Guillermo Angel; John Reynders; Christopher Negron; Thomas Steinbrecher; Etienne Mornet
Source: check_circle
Crossref

Large‐scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency

Human Mutation
2019-11-12 | Journal article
Contributors: Guillermo Angel; Andrew T. Hutchinson; Nina K. Jain; Chris D. Forbes; John Reynders
Source: check_circle
Crossref