Lista de obras -

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

artículo científico publicado en 2014

A de novo pathogenic BMP2 variant-related phenotype with the novel finding of bicuspid aortic valve

artículo científico publicado en 2020

A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations

artículo científico publicado en 2020

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

artículo científico publicado en 2021

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

artículo científico publicado en 2012

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

artículo científico publicado en 2002

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

artículo científico publicado en 2015

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

artículo científico publicado en 2014

Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease

artículo científico publicado en 2020

Atenolol versus losartan in children and young adults with Marfan's syndrome

artículo científico publicado en 2014

Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes

scientific article published on 23 August 2016

Cardiomyopathies in Noonan syndrome and the other RASopathies

artículo científico publicado en 2015

Cathepsin K Deficiency Ameliorates Systemic Lupus Erythematosus-like Manifestations in Faslpr Mice.

artículo científico publicado en 2017

Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy

artículo científico publicado en 2013

ClinGen's RASopathy Expert Panel consensus methods for variant interpretation

article published in 2018

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment

scientific article published on 05 February 2020

Construction of Defined Human Engineered Cardiac Tissues to Study Mechanisms of Cardiac Cell Therapy

artículo científico publicado en 2016

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

artículo científico publicado en 2017

Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

artículo científico publicado en 2020

Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes

artículo científico publicado en 2011

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

scientific article published on 15 March 2019

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

scientific article published on 17 October 2019

De novo mutations in histone-modifying genes in congenital heart disease.

artículo científico publicado en 2013

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms

artículo científico publicado en 2010

Distinct epigenetic programs regulate cardiac myocyte development and disease in the human heart in vivo.

artículo científico publicado en 2018

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes

artículo científico publicado en 2008

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease

artículo científico publicado en 2005

Downregulation of exhausted cytotoxic T cells in gene expression networks of multisystem inflammatory syndrome in children

artículo científico publicado en 2021

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

artículo científico publicado en 2020

Effect of copy number variants on outcomes for infants with single ventricle heart defects

artículo científico publicado en 2013

Erratum: Corrigendum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

scholarly article published in Nature Genetics

Fgfr3 is a transcriptional target of Ap2delta and Ash2l-containing histone methyltransferase complexes

artículo científico publicado en 2009

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

artículo científico publicado en 2018

GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm

artículo científico publicado en 2020

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

artículo científico publicado en 2007

Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pedia

artículo científico publicado en 2007

Genetics of congenital heart disease

artículo científico publicado en 2016

Genomic analyses implicate noncoding de novo variants in congenital heart disease

scientific article published on 29 June 2020

Germ-line and somatic PTPN11 mutations in human disease

artículo científico publicado en 2005

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

artículo científico publicado en 2018

Identification of rare de novo epigenetic variations in congenital disorders.

artículo científico publicado en 2018

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

artículo científico publicado en 2014

Induced pluripotent stem cell-derived cardiomyocytes as models for genetic cardiovascular disorders ⬇️

artículo científico publicado el 1 de mayo de 2011

Loss of RNA expression and allele-specific expression associated with congenital heart disease.

scientific article published on 27 September 2016

Male infertility due to germ cell apoptosis in mice lacking the thiamin carrier, Tht1. A new insight into the critical role of thiamin in spermatogenesis

artículo científico publicado en 2004

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

artículo científico publicado en 2009

Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines ⬇️

artículo científico publicado el 27 de septiembre de 2010

Noonan syndrome

artículo científico publicado en 2013

Noonan syndrome and clinically related disorders

artículo científico publicado en 2011

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction

artículo científico publicado en 2006

Noonan syndrome and related disorders: genetics and pathogenesis

artículo científico publicado en 2005

Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation

artículo científico publicado en 2004

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

artículo científico publicado en 2002

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome

artículo científico publicado en 2004

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome

artículo científico publicado en 2010

Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development

artículo científico publicado en 2008

Practical guidance on informed consent for pediatric participants in a biorepository

artículo científico publicado en 2014

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.

artículo científico publicado en 2010

RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it.

artículo científico publicado en 2011

Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.

artículo científico publicado en 2015

Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles

artículo científico publicado en 2020

Robust identification of mosaic variants in congenital heart disease

artículo científico publicado en 2018

Role of copy number variants in structural birth defects

artículo científico

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

artículo científico publicado en 2003

Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia

artículo científico publicado en 2008

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

scientific journal article

Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice

artículo científico publicado en 2002

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

scientific article published on 07 August 2019

The Congenital Heart Disease Genetic Network Study: Cohort description

artículo científico publicado en 2018

The Congenital Heart Disease Genetic Network Study: rationale, design, and early results

artículo científico publicado en 2013

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

artículo científico publicado en 2016

The Spacing Effect for Structural Synaptic Plasticity Provides Specificity and Precision in Plastic Changes.

artículo científico publicado en 2017

The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease

artículo científico publicado en 2005

The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach.

artículo científico publicado en 2015

Transcription factor protein interactomes reveal genetic determinants in heart disease

artículo científico publicado en 2022

Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations

artículo científico publicado en 2006

Lista de obras de

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

A de novo pathogenic BMP2 variant-related phenotype with the novel finding of bicuspid aortic valve

A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease

Atenolol versus losartan in children and young adults with Marfan's syndrome

Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes

Cardiomyopathies in Noonan syndrome and the other RASopathies

Cathepsin K Deficiency Ameliorates Systemic Lupus Erythematosus-like Manifestations in Faslpr Mice.

Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy

ClinGen's RASopathy Expert Panel consensus methods for variant interpretation

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment

Construction of Defined Human Engineered Cardiac Tissues to Study Mechanisms of Cardiac Cell Therapy

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

De novo mutations in histone-modifying genes in congenital heart disease.

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms

Distinct epigenetic programs regulate cardiac myocyte development and disease in the human heart in vivo.

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease

Downregulation of exhausted cytotoxic T cells in gene expression networks of multisystem inflammatory syndrome in children

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

Effect of copy number variants on outcomes for infants with single ventricle heart defects

Erratum: Corrigendum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Fgfr3 is a transcriptional target of Ap2delta and Ash2l-containing histone methyltransferase complexes

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pedia

Genetics of congenital heart disease

Genomic analyses implicate noncoding de novo variants in congenital heart disease

Germ-line and somatic PTPN11 mutations in human disease

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

Identification of rare de novo epigenetic variations in congenital disorders.

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

Induced pluripotent stem cell-derived cardiomyocytes as models for genetic cardiovascular disorders ⬇️

Loss of RNA expression and allele-specific expression associated with congenital heart disease.

Male infertility due to germ cell apoptosis in mice lacking the thiamin carrier, Tht1. A new insight into the critical role of thiamin in spermatogenesis

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines ⬇️

Noonan syndrome

Noonan syndrome and clinically related disorders

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction

Noonan syndrome and related disorders: genetics and pathogenesis

Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome

Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development

Practical guidance on informed consent for pediatric participants in a biorepository

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.

RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it.

Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.

Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles

Robust identification of mosaic variants in congenital heart disease

Role of copy number variants in structural birth defects

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

The Congenital Heart Disease Genetic Network Study: Cohort description

The Congenital Heart Disease Genetic Network Study: rationale, design, and early results

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

The Spacing Effect for Structural Synaptic Plasticity Provides Specificity and Precision in Plastic Changes.

The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease

The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach.

Transcription factor protein interactomes reveal genetic determinants in heart disease

Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations