Luca Brunelli
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View article: The Role of Genetic Testing in Palliative Care Decisions for Critically Ill Newborns
The Role of Genetic Testing in Palliative Care Decisions for Critically Ill Newborns Open
Genetic testing is rapidly becoming standard practice in the care of critically ill newborns within NICUs. Numerous studies have demonstrated the utility of genetic testing, including changes in clinical care, improved diagnostic certainty…
View article: The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit
The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit Open
View article: A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications
A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications Open
Neonatal liver disease is a broad entity. When it presents in conjunction with other abnormalities, it raises the question of a potential underlying genetic cause. Etiologies that were once difficult to diagnose are becoming more readily i…
View article: A Children’s Rights Framework for Genomic Medicine: Newborn Screening as a Use Case
A Children’s Rights Framework for Genomic Medicine: Newborn Screening as a Use Case Open
The year 2023 marked the 60th anniversary of screening newborns in the United States for diseases that benefit from early identification and intervention. All around the world, the goal of NBS is to facilitate timely diagnosis and manageme…
View article: P683: Comparative analysis of a targeted pharmacogenomics array panel and genome sequencing in a neonate on extracorporeal membrane oxygenation
P683: Comparative analysis of a targeted pharmacogenomics array panel and genome sequencing in a neonate on extracorporeal membrane oxygenation Open
Extracorporeal membrane oxygenation (ECMO) is used to manage critically ill neonates. These newborns are commonly exposed to multiple medications. Pharmacogenomics (PGx) describes gene-drug interactions that influence dose requirements and…
View article: P890: A children’s rights framework for personalized medicine: Solutions to healthcare equity by pivoting to newborn screening and sequencing
P890: A children’s rights framework for personalized medicine: Solutions to healthcare equity by pivoting to newborn screening and sequencing Open
As we approach the 100th anniversary of the League of Nations Geneva Declaration of the Rights of the Child in 2024, there is a prime opportunity to reflect on how advancements in society over the past century have helped to fulfill childr…
View article: P202: Effectiveness of universal, first-tier genome sequencing for critically ill infants on extracorporeal membrane oxygenation
P202: Effectiveness of universal, first-tier genome sequencing for critically ill infants on extracorporeal membrane oxygenation Open
Genome sequencing (GS) has been increasingly utilized as a first-tier test for acutely ill infants in intensive care units (ICUs) to improve clinical outcomes. Yet, there remains significant uncertainty about the timing and selection of in…
View article: Caffeine, Lorazepam, and Morphine Use in Neonatal Intensive Care Unit Population and Potential Relevance of Pharmacogenomics
Caffeine, Lorazepam, and Morphine Use in Neonatal Intensive Care Unit Population and Potential Relevance of Pharmacogenomics Open
Medications are critical for managing acutely ill infants in neonatal intensive care unit (NICU). Tailoring therapies to individual differences in response and dose requirements might help improve outcomes. However, tools for optimizing ph…
View article: Newborn sequencing is only part of the solution for better child health
Newborn sequencing is only part of the solution for better child health Open
View article: Promoting children’s rights to health and well-being in the United States
Promoting children’s rights to health and well-being in the United States Open
The United States has a highly sophisticated pediatric healthcare system and spends more than any other country per capita on children's healthcare. However, not all children have access to needed and affordable health care and the life ex…
View article: Provision and availability of genomic medicine services in Level IV neonatal intensive care units
Provision and availability of genomic medicine services in Level IV neonatal intensive care units Open
View article: Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants
Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants Open
Mendelian disorders are prevalent in neonatal and pediatric intensive care units and are a leading cause of morbidity and mortality in these settings. Current diagnostic pipelines that integrate phenotypic and genotypic data are expert-dep…
View article: Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning Open
Background Rapidly and efficiently identifying critically ill infants for whole genome sequencing (WGS) is a costly and challenging task currently performed by scarce, highly trained experts and is a major bottleneck for application of WGS…
View article: P378: Inter-center variation in the availability and provision of genetic medicine services in Level IV NICUs*
P378: Inter-center variation in the availability and provision of genetic medicine services in Level IV NICUs* Open
View article: P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care
P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care Open
View article: P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2
P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2 Open
View article: Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One) Open
Each year, through population-based newborn screening (NBS), 1 in 294 newborns is identified with a condition leading to early treatment and, in some cases, life-saving interventions. Rapid advancements in genomic technologies to screen, d…
View article: Automated Prioritization of Sick Newborns for Whole Genome Sequencing Using Clinical Natural Language Processing and Machine Learning
Automated Prioritization of Sick Newborns for Whole Genome Sequencing Using Clinical Natural Language Processing and Machine Learning Open
Background Rapidly and efficiently identifying critically ill infants for WGS is a costly and challenging task currently performed by scarce, highly trained experts, and is a major bottleneck for application of WGS in the NICU. Automated m…
View article: Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States
Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States Open
Rare diseases impact all socio-economic, geographic, and racial groups indiscriminately. Newborn screening (NBS) is an exemplary international public health initiative that identifies infants with rare conditions early in life to reduce mo…
View article: Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts <scp><i>ZFPM2</i></scp> in familial congenital diaphragmatic hernia
Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts <span><i>ZFPM2</i></span> in familial congenital diaphragmatic hernia Open
Background Genetic disorders contribute to significant morbidity and mortality in critically ill newborns. Despite advances in genome sequencing technologies, a majority of neonatal cases remain unsolved. Complex structural variants (SVs) …
View article: Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics
Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics Open
View article: Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease Open
ClinicalTrials.gov Identifier: NCT03290469.
View article: Healthcare and human rights: a reflection
Healthcare and human rights: a reflection Open
View article: Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program
Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program Open
Rapid whole genome sequencing (rapid WGS) is a powerful diagnostic tool that is becoming increasingly practical for widespread clinical use. However, protocols for its use are challenging to implement. A significant obstacle to clinical ad…
View article: Live‐cell PCR and one‐step purification streamline DNA engineering
Live‐cell PCR and one‐step purification streamline DNA engineering Open
In vivo DNA engineering such as recombineering (recombination‐mediated genetic engineering) and DNA gap repair typically involve growing Escherichia coli ( E coli ) containing plasmids, followed by plasmid DNA extraction and purification p…
View article: Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants Open
Background Exome/genome sequencing (ES/GS) have been recently used in neonatal and pediatric/cardiac intensive care units (NICU and PICU/CICU) to diagnose and care for acutely ill infants, but the effectiveness of targeted gene panels for …
View article: Isolation of Full Size BAC Inserts by DNA Gap Repair in<i>E. coli</i>
Isolation of Full Size BAC Inserts by DNA Gap Repair in<i>E. coli</i> Open
DNA polymers can comprise millions of base pairs and encode thousands of structural and regulatory genetic elements. Thus, the precise isolation of specific DNA segments is required for accurate gene dissection. Although polymerase chain r…
View article: Deep Learning-based Production Forecasting in Manufacturing: a Packaging Equipment Case Study
Deep Learning-based Production Forecasting in Manufacturing: a Packaging Equipment Case Study Open
We propose a Deep Learning (DL)-based approach for production performance forecasting in fresh products packaging. On the one hand, this is a very demanding scenario where high throughput is mandatory; on the other, due to strict hygiene r…
View article: DNA Gap Repair-Mediated Site-Directed Mutagenesis is Different from Mandecki and Recombineering Approaches
DNA Gap Repair-Mediated Site-Directed Mutagenesis is Different from Mandecki and Recombineering Approaches Open
Site-directed mutagenesis allows the generation of mutant DNA sequences for downstream functional analysis of genetic variants involved in human health and disease. Understanding the mechanisms of different mutagenesis methods can help sel…
View article: Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia
Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia Open
Objectives Congenital diaphragmatic hernia (CDH) is a developmental defect of the diaphragm that causes high newborn morbidity and mortality. CDH is considered to be a multifactorial disease, with strong evidence implicating genetic factor…