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Guillermo del Angel | Researchclopedia

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Guillermo del Angel

AstraZeneca (Australia)ORCID

33

Works

40,445

Citations

13

h-index

14

i10-index

Research Topics

Genomics and Rare Diseases Alkaline Phosphatase Research Studies Genetic Associations and Epidemiology

Affiliations

AstraZeneca (United Kingdom)2024–2024

Broad Institute2011–2015

AstraZeneca (Australia)2025–2026

AstraZeneca (Singapore)2025–2025

AstraZeneca (Brazil)2025–2026

Top Works

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

Mark A. DePristo,Eric Banks,et al.

201112,254 citations

Biochemical and Molecular Research

Heterotopic Ossification and Related Conditions

From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

Geraldine Van Der Auwera,Mauricio O. Carneiro,et al.

20137,124 citations

Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

Olivier Delaneau,Jonathan Marchini,et al.

2014452 citations

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

Stephen F. Kingsmore,Laurie D. Smith,et al.

2022162 citations

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

Héctor Martín Merinero,Yuzhou Zhang,et al.

202155 citations

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

Mariam R. Farman,Catherine Rehder,et al.

202355 citations

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

Guillermo del Angel,John Reynders,et al.

202054 citations

Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences

Oliver S. Burren,Ryan S. Dhindsa,et al.

202445 citations

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

Guillermo del Angel,Andrew T. Hutchinson,et al.

201921 citations