Author

Albert Oriol

Institutions: Rady Children's Hospital-San Diego, Rady Children's Institute for Genomic Medicine

Observed institutions: Rady Children's Hospital-San Diego, Rady Children's Institute for Genomic Medicine

ORCID: 0000-0002-5236-950X

Observed ORCID: 0000-0002-5236-950X

OpenAlex ID: A5045308944

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants

2019 · Stephen F. Kingsmore, Julie A. Cakici, et al. · The American Journal of Human Genetics · 352

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

2019 · Michelle M. Clark, Amber Hildreth, et al. · Science Translational Medicine · 297

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

2020 · David P. Dimmock, Michelle M. Clark, et al. · The American Journal of Human Genetics · 189

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

2022 · Stephen F. Kingsmore, Laurie D. Smith, et al. · The American Journal of Human Genetics · 177

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

2022 · Mallory J. Owen, Sebastien Lefebvre, et al. · Nature Communications · 71

Promises, Pitfalls, and Clinical Applications of Artificial Intelligence in Pediatrics

2024 · Hansa Bhargava, Carmela Salomon, et al. · Journal of Medical Internet Research · 26

Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning

2023 · Bennet Peterson, Edgar Javier Hernandez, et al. · Genome Medicine · 26

Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection

2024 · Stephen F. Kingsmore, Meredith Wright, et al. · The American Journal of Human Genetics · 14

Automated Prioritization of Sick Newborns for Whole Genome Sequencing Using Clinical Natural Language Processing and Machine Learning

2022 · Bennet Peterson, Javier Hernandez, et al. · medRxiv · 2

Response to Grosse et al.

2023 · Stephen F. Kingsmore, Laurie D. Smith, et al. · The American Journal of Human Genetics · 1

Works count: 10

Citation count: 1,155

H-index: 8

I10-index: 8