Lista de obras -

A De Novo Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome

artículo científico publicado en 2018

A Novel APOC2 Missense Mutation Causing Apolipoprotein C-II Deficiency With Severe Triglyceridemia and Pancreatitis.

artículo científico publicado en 2017

A common hypofunctional genetic variant of GPER is associated with increased blood pressure in women

artículo científico publicado en 2014

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia

artículo científico publicado en 2014

A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy

artículo científico publicado en 2014

A novel MC4R mutation associated with childhood-onset obesity: A case report

artículo científico publicado en 2014

An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemia

artículo científico publicado en 2011

Ancestry-specific profiles of genetic determinants of severe hypertriglyceridemia

scientific article published on 24 November 2020

Association of apolipoprotein E variation with cognitive impairment across multiple neurodegenerative diagnoses

Common low-density lipoprotein receptor p.G116S variant has a large effect on plasma low-density lipoprotein cholesterol in circumpolar inuit populations

artículo científico publicado en 2014

Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation

artículo científico publicado en 2014

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

scientific journal article

Excess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemia

artículo científico publicado en 2011

Familial partial lipodystrophy presenting as metabolic syndrome

artículo científico publicado en 2016

G-protein estrogen receptor as a regulator of low-density lipoprotein cholesterol metabolism: cellular and population genetic studies

artículo científico publicado en 2014

Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative

scientific article published on 15 August 2019

High Frequency of Variants of Candidate Genes in Black Africans with Low Renin-Resistant Hypertension

artículo científico publicado en 2017

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias

scientific article published on 06 February 2014

Loss-of-Function CREB3L3 Variants in Patients With Severe Hypertriglyceridemia

artículo científico publicado en 2020

Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically

artículo científico publicado en 2016

Polygenic determinants in extremes of high-density lipoprotein cholesterol

artículo científico publicado en 2017

Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function

artículo científico publicado en 2010

Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene

artículo científico

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

artículo científico publicado en 2018

Targeted next-generation sequencing in monogenic dyslipidemias

artículo científico publicado en 2015

The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration

artículo científico publicado en 2016

The apolipoprotein C-III (Gln38Lys) variant associated with human hypertriglyceridemia is a gain-of-function mutation

artículo científico publicado en 2017

Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1

artículo científico publicado en 2012

Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia

artículo científico publicado en 2017

Western Database of Lipid Variants (WDLV): A Catalogue of Genetic Variants in Monogenic Dyslipidemias ⬇️

artículo científico publicado el 24 de abril de 2013

Lista de obras de

A De Novo Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome

A Novel APOC2 Missense Mutation Causing Apolipoprotein C-II Deficiency With Severe Triglyceridemia and Pancreatitis.

A common hypofunctional genetic variant of GPER is associated with increased blood pressure in women

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia

A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy

A novel MC4R mutation associated with childhood-onset obesity: A case report

An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemia

Ancestry-specific profiles of genetic determinants of severe hypertriglyceridemia

Association of apolipoprotein E variation with cognitive impairment across multiple neurodegenerative diagnoses

Common low-density lipoprotein receptor p.G116S variant has a large effect on plasma low-density lipoprotein cholesterol in circumpolar inuit populations

Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

Excess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemia

Familial partial lipodystrophy presenting as metabolic syndrome

G-protein estrogen receptor as a regulator of low-density lipoprotein cholesterol metabolism: cellular and population genetic studies

Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative

High Frequency of Variants of Candidate Genes in Black Africans with Low Renin-Resistant Hypertension

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias

Loss-of-Function CREB3L3 Variants in Patients With Severe Hypertriglyceridemia

Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically

Polygenic determinants in extremes of high-density lipoprotein cholesterol

Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function

Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted next-generation sequencing in monogenic dyslipidemias

The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration

The apolipoprotein C-III (Gln38Lys) variant associated with human hypertriglyceridemia is a gain-of-function mutation

Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1

Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia

Western Database of Lipid Variants (WDLV): A Catalogue of Genetic Variants in Monogenic Dyslipidemias ⬇️