Lista de obras -

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

artículo científico publicado en 2015

A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients

artículo científico publicado en 2017

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

artículo científico publicado en 2013

Accurate detection of low-level mosaic mutations in pediatric acute lymphoblastic leukemia using single molecule tagging and deep-sequencing.

artículo científico publicado en 2017

Acquired mutations in TET2 are common in myelodysplastic syndromes

artículo científico publicado en 2009

Analyzing structure-function relationships of artificial and cancer-associated PARP1 variants by reconstituting TALEN-generated HeLa PARP1 knock-out cells

artículo científico publicado en 2016

Beyond KRAS mutation status: influence of KRAS copy number status and microRNAs on clinical outcome to cetuximab in metastatic colorectal cancer patients.

artículo científico publicado en 2012

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

artículo científico publicado en 2011

Cell-type-specific and selectively induced expression of members of the p24 family of putative cargo receptors.

artículo científico publicado en 2002

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

artículo científico publicado en 2019

Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

artículo científico publicado en 2015

EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients

artículo científico publicado en 2013

Germline copy number variation and cancer risk

artículo científico publicado en 2010

Glucocorticoid Resistant Pediatric Acute Lymphoblastic Leukemia Samples Display Altered Splicing Profile and Vulnerability to Spliceosome Modulation

scientific article published on 19 March 2020

High yield of pathogenic germline mutations causative or likely causative of the cancer phenotype in selected children with cancer

artículo científico publicado en 2018

High-resolution DNA copy number and gene expression analyses distinguish chromophobe renal cell carcinomas and renal oncocytomas

artículo científico publicado en 2009

High-resolution genomic profiling of pediatric lymphoblastic lymphomas reveals subtle differences with pediatric acute lymphoblastic leukemias in the B-lineage

artículo científico publicado en 2009

IL-7 Receptor Mutations and Steroid Resistance in Pediatric T cell Acute Lymphoblastic Leukemia: A Genome Sequencing Study

artículo científico publicado en 2016

Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients

artículo científico publicado en 2011

Independent prognostic value of BCR-ABL1-like signature and IKZF1 deletion, but not high CRLF2 expression, in children with B-cell precursor ALL.

artículo científico publicado en 2013

Integration of genetic and clinical risk factors improves prognostication in relapsed childhood B-cell precursor acute lymphoblastic leukemia

artículo científico publicado en 2016

Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion

artículo científico publicado en 2011

Microarray-based genomic profiling and in situ hybridization on fibrotic bone marrow biopsies for the identification of numerical chromosomal abnormalities in myelodysplastic syndrome

artículo científico publicado en 2015

NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?

artículo científico publicado en 2017

NTHL1 defines novel cancer syndrome

artículo científico publicado en 2015

Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool

artículo científico publicado en 2016

Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains

artículo científico publicado en 2004

Reliable Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Tissue Using Single Molecule Tags

artículo científico publicado en 2016

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

artículo científico publicado en 2012

Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

artículo científico publicado en 2010

The Origin and Nature of Tightly Clustered BTG1 Deletions in Precursor B-Cell Acute Lymphoblastic Leukemia Support a Model of Multiclonal Evolution ⬇️

artículo científico publicado el 16 de febrero de 2012

The epigenetics of (hereditary) colorectal cancer

artículo científico publicado en 2010

Tumor suppressors BTG1 and IKZF1 cooperate during mouse leukemia development and increase relapse risk in B-cell precursor acute lymphoblastic leukemia patients

artículo científico publicado en 2016

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

artículo científico publicado en 2017

Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution

artículo científico publicado en 2003

Use of CRISPR-modified human stem cell organoids to study the origin of mutational signatures in cancer.

artículo científico publicado en 2017

Lista de obras de

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

Accurate detection of low-level mosaic mutations in pediatric acute lymphoblastic leukemia using single molecule tagging and deep-sequencing.

Acquired mutations in TET2 are common in myelodysplastic syndromes

Analyzing structure-function relationships of artificial and cancer-associated PARP1 variants by reconstituting TALEN-generated HeLa PARP1 knock-out cells

Beyond KRAS mutation status: influence of KRAS copy number status and microRNAs on clinical outcome to cetuximab in metastatic colorectal cancer patients.

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

Cell-type-specific and selectively induced expression of members of the p24 family of putative cargo receptors.

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients

Germline copy number variation and cancer risk

Glucocorticoid Resistant Pediatric Acute Lymphoblastic Leukemia Samples Display Altered Splicing Profile and Vulnerability to Spliceosome Modulation

High yield of pathogenic germline mutations causative or likely causative of the cancer phenotype in selected children with cancer

High-resolution DNA copy number and gene expression analyses distinguish chromophobe renal cell carcinomas and renal oncocytomas

High-resolution genomic profiling of pediatric lymphoblastic lymphomas reveals subtle differences with pediatric acute lymphoblastic leukemias in the B-lineage

IL-7 Receptor Mutations and Steroid Resistance in Pediatric T cell Acute Lymphoblastic Leukemia: A Genome Sequencing Study

Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients

Independent prognostic value of BCR-ABL1-like signature and IKZF1 deletion, but not high CRLF2 expression, in children with B-cell precursor ALL.

Integration of genetic and clinical risk factors improves prognostication in relapsed childhood B-cell precursor acute lymphoblastic leukemia

Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion

Microarray-based genomic profiling and in situ hybridization on fibrotic bone marrow biopsies for the identification of numerical chromosomal abnormalities in myelodysplastic syndrome

NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?

NTHL1 defines novel cancer syndrome

Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool

Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains

Reliable Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Tissue Using Single Molecule Tags

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

The Origin and Nature of Tightly Clustered BTG1 Deletions in Precursor B-Cell Acute Lymphoblastic Leukemia Support a Model of Multiclonal Evolution ⬇️

The epigenetics of (hereditary) colorectal cancer

Tumor suppressors BTG1 and IKZF1 cooperate during mouse leukemia development and increase relapse risk in B-cell precursor acute lymphoblastic leukemia patients

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution

Use of CRISPR-modified human stem cell organoids to study the origin of mutational signatures in cancer.