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View article: Challenges in the diagnosis and treatment of genetic cholestasis in adults
Challenges in the diagnosis and treatment of genetic cholestasis in adults Open
View article: Germline Variants Influence Chronic Liver Disease Progression through Distinct Pathways
Germline Variants Influence Chronic Liver Disease Progression through Distinct Pathways Open
Cirrhosis and hepatocellular carcinoma (HCC) are long-term complications of chronic liver disease (CLD). In this large multi-ancestry genome-wide association study of all-cause cirrhosis (35,481 cases, 2.36M controls) and HCC (6,680 cases,…
View article: Insulin resistance, metabolic dysfunction–associated steatotic liver disease, and advanced liver fibrosis in lean US adults: a population-based study
Insulin resistance, metabolic dysfunction–associated steatotic liver disease, and advanced liver fibrosis in lean US adults: a population-based study Open
MASLD and advanced liver fibrosis in lean individuals are linked to IR, independently of excess adiposity. Assessing IR could aid in identifying lean individuals at high risk of MASLD and liver fibrosis, regardless of diabetes status.
View article: Genome-wide meta-analysis identifies nine loci associated with higher risk of hepatocellular carcinoma development
Genome-wide meta-analysis identifies nine loci associated with higher risk of hepatocellular carcinoma development Open
View article: Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis
Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis Open
View article: Genetics of liver disease in adults
Genetics of liver disease in adults Open
Chronic liver disease stands as a significant global health problem with an estimated 2 million annual deaths across the globe. Combining the use of next-generation sequencing technologies with evolving knowledge in the interpretation of g…
View article: Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway
Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway Open
View article: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway
GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway Open
View article: Advancing diagnosis and management of liver disease in adults through exome sequencing
Advancing diagnosis and management of liver disease in adults through exome sequencing Open
View article: Protocol for enrichment, purification, and cytocentrifugation of mouse liver endothelial cells
Protocol for enrichment, purification, and cytocentrifugation of mouse liver endothelial cells Open
Liver endothelial cells (LECs) are critical in maintaining liver homeostasis. To understand the mechanistic processes occurring in these cells, high-quality isolation protocols must be in place. Here, we present a protocol for LEC enrichme…
View article: Hepatology Genome Rounds: An interdisciplinary approach to integrate genomic data into clinical practice
Hepatology Genome Rounds: An interdisciplinary approach to integrate genomic data into clinical practice Open
View article: Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study
Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study Open
Although most people with non-alcoholic fatty liver disease (NAFLD) are overweight or obese, a subset are lean and may have unique genetic mutations that cause their fatty liver disease. We show that 33% of study participants with NAFLD wh…
View article: Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency
Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency Open
View article: A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation
A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation Open
View article: Genomic medicine for liver disease
Genomic medicine for liver disease Open
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View article: Emerging Role of Genomic Analysis in Clinical Evaluation of Lean Individuals With NAFLD
Emerging Role of Genomic Analysis in Clinical Evaluation of Lean Individuals With NAFLD Open
Whereas the rising prevalence of nonalcoholic fatty liver disease (NAFLD) is closely related with the global obesity epidemic, up to 10–20% of individuals with NAFLD are lean as defined by a body mass index of < 25 kg/m2, or < 23 kg/…
View article: Genetic Variation in the Mitochondrial Glycerol‐3‐Phosphate Acyltransferase Is Associated With Liver Injury
Genetic Variation in the Mitochondrial Glycerol‐3‐Phosphate Acyltransferase Is Associated With Liver Injury Open
Background and Aims Most of the genetic basis of chronic liver disease remains undiscovered. Approach and Results To identify genetic loci that modulate the risk of liver injury, we performed genome‐wide association studies on circulating …
View article: Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child Open
View article: A single cell gene expression atlas of 28 human livers
A single cell gene expression atlas of 28 human livers Open
View article: GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension
GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension Open
Portal hypertension is a major contributor to decompensation and death from liver disease, a global health problem. Here, we demonstrate homozygous damaging mutations in GIMAP5, a small organellar GTPase, in four families with unexplained …
View article: Heterozygosity of the Alpha 1‐Antitrypsin Pi*Z Allele and Risk of Liver Disease
Heterozygosity of the Alpha 1‐Antitrypsin Pi*Z Allele and Risk of Liver Disease Open
The serpin family A member 1 ( SERPINA1 ) Z allele is present in approximately one in 25 individuals of European ancestry. Z allele homozygosity (Pi*ZZ) is the most common cause of alpha 1‐antitrypsin deficiency and is a proven risk factor…
View article: Human immunodeficiency reveals GIMAP5 as lymphocyte-specific regulator of senescence
Human immunodeficiency reveals GIMAP5 as lymphocyte-specific regulator of senescence Open
Elucidating the molecular basis of immunodeficiency diseases is a powerful approach to discovering new immunoregulatory pathways in humans. Here we report 10 affected individuals from 4 families with a new immunodeficiency disease comprisi…
View article: Deep mining of oxysterols and cholestenoic acids in human plasma and cerebrospinal fluid: Quantification using isotope dilution mass spectrometry
Deep mining of oxysterols and cholestenoic acids in human plasma and cerebrospinal fluid: Quantification using isotope dilution mass spectrometry Open
View article: A trans-ancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation
A trans-ancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation Open
Nonalcoholic fatty liver disease (NAFLD) is a growing cause of chronic liver disease. Using a proxy NAFLD definition of chronic alanine aminotransferase elevation (cALT) without other liver diseases, we performed a trans-ancestry genome-wi…
View article: A Single Cell Gene Expression Atlas of 28 Human Livers
A Single Cell Gene Expression Atlas of 28 Human Livers Open
The liver is the largest solid organ in the human body and is responsible for a multitude of essential functions for survival. Chronic liver injury affects over 1 billion people worldwide and therapeutic options other than liver transplant…
View article: Undiagnosed liver diseases
Undiagnosed liver diseases Open
The landscape of chronic liver disease has drastically changed over the past 20 years, largely due to advances in antiviral therapy and the rise of metabolic syndrome and associated non-alcoholic fatty liver disease (NAFLD). Despite advanc…
View article: Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea
Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea Open
Gao, Emily; Cheema, Huma; Waheed, Nadia; Mushtaq, Iqra; Erden, Nihan; Nelson‐Williams, Carol; Jain, Dhanpat; Soroka, Carol J.; Boyer, James L.; Khalil, Youssef; Clayton, Peter T.; Mistry, Pramod K.; Lifton, Richard P.; Vilarinho, Sílvia Au…
View article: Reply to: “Whole exome sequencing for personalized hepatology: Expanding applications in adults and challenges”
Reply to: “Whole exome sequencing for personalized hepatology: Expanding applications in adults and challenges” Open
View article: Exome Sequencing in Clinical Hepatology
Exome Sequencing in Clinical Hepatology Open
The clinical relevance of the Human Genome Project and next‐generation sequencing technology was demonstrated for the first time in 2009, when whole‐exome sequencing (WES) provided the definitive diagnosis of congenital chloride diarrhea i…
View article: Clinical utility of genomic analysis in adults with idiopathic liver disease
Clinical utility of genomic analysis in adults with idiopathic liver disease Open