Lista de obras -

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

artículo científico publicado en 2012

Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides.

artículo científico publicado en 2006

An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3

artículo científico publicado en 2019

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

artículo científico publicado en 2020

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

artículo científico publicado en 2016

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

scientific article published on 25 December 2018

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

artículo científico publicado en 2020

Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A GeT-RM Collaborative Project

artículo científico publicado en 2020

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

artículo científico publicado en 2018

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

artículo científico publicado en 2019

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

scientific article published on 17 May 2019

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

artículo científico publicado en 2019

EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction

artículo científico publicado en 2020

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

artículo científico publicado en 2017

Erratum: TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop

scholarly article published in Nature Cell Biology

Fibroblast growth factor and epidermal growth factor differently affect differentiation of murine retinal stem cells in vitro

artículo científico publicado en 2007

Gene Therapy with Helper-Dependent Adenoviral Vectors: Current Advances and Future Perspectives ⬇️

artículo científico publicado el 3 de septiembre de 2010

Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency

artículo científico publicado en 2013

Generation of a Kupffer Cell-evading Adenovirus for Systemic and Liver-directed Gene Transfer ⬇️

artículo científico publicado el 19 de abril de 2011

Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia

artículo científico publicado en 2020

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

artículo científico publicado en 2017

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

artículo científico publicado en 2017

Helper-Dependent Adenoviral Vectors.

artículo científico publicado en 2011

Improved efficacy and reduced toxicity by ultrasound-guided intrahepatic injections of helper-dependent adenoviral vector in Gunn rats

artículo científico publicado en 2013

Liver-Directed Gene Therapy with Helper-Dependent Adenoviral Vectors: Current State of the Art and Future Challenges ⬇️

artículo científico publicado el 1 de enero de 2011

Modifications of Adenovirus Hexon Allow for Either Hepatocyte Detargeting or Targeting With Potential Evasion From Kupffer Cells ⬇️

artículo científico publicado el 19 de octubre de 2010

Phenotypic expansion in - a common cause of intellectual disability in females

artículo científico publicado en 2018

Reanalysis of Clinical Exome Sequencing Data

artículo científico publicado en 2019

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

scientific journal article

SR-A and SREC-I are Kupffer and endothelial cell receptors for helper-dependent adenoviral vectors

artículo científico publicado en 2013

Sustained Reduction of Hyperbilirubinemia in Gunn Rats After Adeno-Associated Virus-Mediated Gene Transfer of Bilirubin UDP-Glucuronosyltransferase Isozyme 1A1 to Skeletal Muscle ⬇️

artículo científico publicado el 27 de agosto de 2012

Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders

artículo científico publicado en 2020

TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop

artículo científico publicado en 2013

The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis

artículo científico publicado en 2004

Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability

artículo científico publicado en 2018

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

artículo científico publicado en 2017

Vasoactive intestinal peptide increases hepatic transduction and reduces innate immune response following administration of helper-dependent Ad.

artículo científico publicado en 2010

Lista de obras de

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides.

An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A GeT-RM Collaborative Project

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Erratum: TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop

Fibroblast growth factor and epidermal growth factor differently affect differentiation of murine retinal stem cells in vitro

Gene Therapy with Helper-Dependent Adenoviral Vectors: Current Advances and Future Perspectives ⬇️

Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency

Generation of a Kupffer Cell-evading Adenovirus for Systemic and Liver-directed Gene Transfer ⬇️

Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Helper-Dependent Adenoviral Vectors.

Improved efficacy and reduced toxicity by ultrasound-guided intrahepatic injections of helper-dependent adenoviral vector in Gunn rats

Liver-Directed Gene Therapy with Helper-Dependent Adenoviral Vectors: Current State of the Art and Future Challenges ⬇️

Modifications of Adenovirus Hexon Allow for Either Hepatocyte Detargeting or Targeting With Potential Evasion From Kupffer Cells ⬇️

Phenotypic expansion in - a common cause of intellectual disability in females

Reanalysis of Clinical Exome Sequencing Data

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

SR-A and SREC-I are Kupffer and endothelial cell receptors for helper-dependent adenoviral vectors

Sustained Reduction of Hyperbilirubinemia in Gunn Rats After Adeno-Associated Virus-Mediated Gene Transfer of Bilirubin UDP-Glucuronosyltransferase Isozyme 1A1 to Skeletal Muscle ⬇️

Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders

TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop

The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis

Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

Vasoactive intestinal peptide increases hepatic transduction and reduces innate immune response following administration of helper-dependent Ad.