Luca Brunelli

University of Utah

United States

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Articles (10)

Year:

2025

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2022

Collaborators (4)

Edgar Hernandez

Research Assistant Professor

University of Utah

UNITED STATES

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Pablo Botas

Head of Product

GERMANY

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Sabrina Malone Jenkins

UNITED STATES

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Bimal Chaudhari

Assistant Professor

Nationwide Children's Hospital

UNITED STATES

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Luca Brunelli

Research Interests

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Articles (10)

A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications

Provision and availability of genomic medicine services in Level IV neonatal intensive care units.

Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants

Newborn sequencing is only part of the solution for better child health

Promoting children’s rights to health and well-being in the United States

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

Exploring collaboration models between geneticists and intensivists for implementing rapid genome sequencing in critical care settings

Understanding the Clinical Utility of Genome Sequencing in Critically Ill Newborns

Variants in AQP11 may result in autosomal recessive bilateral cystic renal dysgenesis

Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia

Collaborators (4)

Edgar Hernandez

Pablo Botas

Sabrina Malone Jenkins

Bimal Chaudhari

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