Concepedia

John Reynders

JR

Statistics

Publications

4

Citations

431

H-Index

4

Active since

2019

Affiliations

Alexion Pharmaceuticals (United States)(Current)

Children’s Institute

Illumina (United States)

Rady Children's Hospital-San Diego

University of California San Diego

John Reynders is an author at Alexion Pharmaceuticals (United States) specializing in medicine, genetics, and inherited metabolic disease.

Top concepts

GeneticsMedicineGenomicsGynecologyProteomicsBiochemistryEpidemiologyBiostatisticsPublic HealthBioinformatics

Publications per year

2019–2022

4

Publications

4

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

Michelle M. Clark, Amber Hildreth, Serge Batalov et al. · Science Translational Medicine · 2019 · 288 citations · Full text

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

Mallory Owen, Sébastien Lefebvre, Christian Holm Hansen et al. · Nature Communications · 2022 · 70 citations · Full text

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, Christopher Negron et al. · Human Mutation · 2020 · 54 citations · Full text

Genetics, Molecular Biology, Disease Gene Identification +21

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

Guillermo del Angel, Andrew T. Hutchinson, Nina Jain et al. · Human Mutation · 2019 · 19 citations · Full text

Genetics, Genetic Epidemiology, Gynecology +16

1–4 of 4