Lista de obras -

A Comprehensive Assessment of Somatic Mutation Calling in Cancer Genomes

article

A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer

scientific article published on 01 June 2020

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

artículo científico publicado en 2020

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

artículo científico publicado en 2015

A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.

artículo científico publicado en 2017

A report of whole-genome sequencing in neurologic Wilson's disease

artículo científico publicado en 2017

Abstract 1686: Comprehensive genomic and transcriptomic profiling of gastrointestinal stromal tumors

scholarly article

Abstract 4172: Identification of familial Hodgkin lymphoma predisposing genes by whole genome sequencing

scholarly article

Cancer Predisposition Genes in Cancer-Free Families

artículo científico publicado en 2020

Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

artículo científico publicado en 2018

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

artículo científico publicado en 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

artículo científico publicado en 2017

Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.

artículo científico publicado en 2017

Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.

artículo científico publicado en 2016

Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family

artículo científico publicado en 2018

Genetic subclone architecture of tumor clone-initiating cells in colorectal cancer.

artículo científico publicado en 2017

Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma

artículo científico publicado en 2019

Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family

article

Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing

artículo científico publicado en 2020

Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency

artículo científico publicado en 2017

Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism

artículo científico publicado en 2020

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

artículo científico publicado en 2017

Mutational patterns and regulatory networks in epigenetic subgroups of meningioma

artículo científico publicado en 2019

Pedigree based DNA sequencing pipeline for germline genomes of cancer families

artículo científico publicado en 2016

Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson's disease

artículo científico publicado en 2021

PyOncoPrint: a python package for plotting OncoPrints

scientific article published in 2023

Recurrent Germline Variant in <i>RAD21</i> Predisposes Children to Lymphoblastic Leukemia or Lymphoma

artículo científico publicado en 2022

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.

artículo científico publicado en 2015

Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism

artículo científico publicado en 2019

TALEN/CRISPR-mediated engineering of a promoterless anti-viral RNAi hairpin into an endogenous miRNA locus

artículo científico publicado en 2016

The Frog as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in

The whole-genome landscape of medulloblastoma subtypes

artículo científico publicado en 2017

Whole genome sequencing puts forward hypotheses on metastasis evolution and therapy in colorectal cancer

artículo científico publicado en 2018

Whole genome sequencing reveals DICER1 as a candidate predisposing gene in familial Hodgkin lymphoma

article

YAP1-fusions in pediatric NF2-wildtype meningioma

artículo científico publicado en 2019

Lista de obras de

A Comprehensive Assessment of Somatic Mutation Calling in Cancer Genomes

A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.

A report of whole-genome sequencing in neurologic Wilson's disease

Abstract 1686: Comprehensive genomic and transcriptomic profiling of gastrointestinal stromal tumors

Abstract 4172: Identification of familial Hodgkin lymphoma predisposing genes by whole genome sequencing

Cancer Predisposition Genes in Cancer-Free Families

Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.

Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.

Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family

Genetic subclone architecture of tumor clone-initiating cells in colorectal cancer.

Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma

Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family

Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing

Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency

Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

Mutational patterns and regulatory networks in epigenetic subgroups of meningioma

Pedigree based DNA sequencing pipeline for germline genomes of cancer families

Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson's disease

PyOncoPrint: a python package for plotting OncoPrints

Recurrent Germline Variant in <i>RAD21</i> Predisposes Children to Lymphoblastic Leukemia or Lymphoma

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.

Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism

TALEN/CRISPR-mediated engineering of a promoterless anti-viral RNAi hairpin into an endogenous miRNA locus

The Frog as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in

The whole-genome landscape of medulloblastoma subtypes

Whole genome sequencing puts forward hypotheses on metastasis evolution and therapy in colorectal cancer

Whole genome sequencing reveals DICER1 as a candidate predisposing gene in familial Hodgkin lymphoma

YAP1-fusions in pediatric NF2-wildtype meningioma