Lista de obras -

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

artículo científico publicado en 2013

A workflow to increase verification rate of chromosomal structural rearrangements using high-throughput next-generation sequencing.

artículo científico publicado en 2014

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

artículo científico publicado en 2015

Clinical and molecular characterization of HER2 amplified-pancreatic cancer.

artículo científico publicado en 2013

Corrigendum: Whole-genome landscape of pancreatic neuroendocrine tumours

artículo científico publicado en 2017

Erratum: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

article

Erratum: Corrigendum: Whole–genome characterization of chemoresistant ovarian cancer

scientific article published in Nature

Genome-wide DNA methylation patterns in pancreatic ductal adenocarcinoma reveal epigenetic deregulation of SLIT-ROBO, ITGA2 and MET signaling.

artículo científico publicado en 2014

Genomic analyses identify molecular subtypes of pancreatic cancer

artículo científico publicado en 2016

Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis.

artículo científico publicado en 2014

Hypermutation In Pancreatic Cancer

artículo científico publicado en 2016

Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy

artículo científico publicado en 2013

Integrated genomic and transcriptomic analysis of human brain metastases identifies alterations of potential clinical significance

artículo científico

Lost in translation: returning germline genetic results in genome-scale cancer research

artículo científico publicado en 2017

MicroRNAs-140-5p/140-3p modulate Leydig cell numbers in the developing mouse testis

artículo científico publicado en 2013

Mitochondrial mutations and metabolic adaptation in pancreatic cancer.

scientific article published on 30 January 2017

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

artículo científico publicado en 2013

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

artículo científico publicado en 2014

New RAS-mutant pancreatic adenocarcinoma with combined BRAF and MEK inhibition for metastatic melanoma

artículo científico publicado en 2014

Optimized deep-targeted proteotranscriptomic profiling reveals unexplored Conus toxin diversity and novel cysteine frameworks.

artículo científico publicado en 2015

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

artículo científico publicado en 2012

Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications

artículo científico publicado en 2019

Precision Oncology in Surgery: Patient Selection for Operable Pancreatic Cancer

artículo científico publicado en 2018

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient

artículo científico publicado en 2014

Recommendations for Accurate Resolution of Gene and Isoform Allele-Specific Expression in RNA-Seq Data.

artículo científico publicado en 2015

Returning individual research results for genome sequences of pancreatic cancer

artículo científico publicado en 2014

Somatic point mutation calling in low cellularity tumors.

artículo científico publicado en 2013

Whole exome sequencing in patients with white matter abnormalities.

artículo científico publicado en 2016

Whole genomes redefine the mutational landscape of pancreatic cancer

artículo científico publicado en 2015

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

artículo científico publicado en 2018

Whole-genome characterization of chemoresistant ovarian cancer

artículo científico publicado en 2015

Whole-genome landscape of pancreatic neuroendocrine tumours.

artículo científico publicado en 2017

qpure: A tool to estimate tumor cellularity from genome-wide single-nucleotide polymorphism profiles

artículo científico publicado en 2012

Lista de obras de

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

A workflow to increase verification rate of chromosomal structural rearrangements using high-throughput next-generation sequencing.

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

Clinical and molecular characterization of HER2 amplified-pancreatic cancer.

Corrigendum: Whole-genome landscape of pancreatic neuroendocrine tumours

Erratum: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Erratum: Corrigendum: Whole–genome characterization of chemoresistant ovarian cancer

Genome-wide DNA methylation patterns in pancreatic ductal adenocarcinoma reveal epigenetic deregulation of SLIT-ROBO, ITGA2 and MET signaling.

Genomic analyses identify molecular subtypes of pancreatic cancer

Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis.

Hypermutation In Pancreatic Cancer

Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy

Integrated genomic and transcriptomic analysis of human brain metastases identifies alterations of potential clinical significance

Lost in translation: returning germline genetic results in genome-scale cancer research

MicroRNAs-140-5p/140-3p modulate Leydig cell numbers in the developing mouse testis

Mitochondrial mutations and metabolic adaptation in pancreatic cancer.

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

New RAS-mutant pancreatic adenocarcinoma with combined BRAF and MEK inhibition for metastatic melanoma

Optimized deep-targeted proteotranscriptomic profiling reveals unexplored Conus toxin diversity and novel cysteine frameworks.

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications

Precision Oncology in Surgery: Patient Selection for Operable Pancreatic Cancer

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient

Recommendations for Accurate Resolution of Gene and Isoform Allele-Specific Expression in RNA-Seq Data.

Returning individual research results for genome sequences of pancreatic cancer

Somatic point mutation calling in low cellularity tumors.

Whole exome sequencing in patients with white matter abnormalities.

Whole genomes redefine the mutational landscape of pancreatic cancer

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

Whole-genome characterization of chemoresistant ovarian cancer

Whole-genome landscape of pancreatic neuroendocrine tumours.

qpure: A tool to estimate tumor cellularity from genome-wide single-nucleotide polymorphism profiles