Lista de obras -

A 35-year experience with syndromic cleft palate repair: operative outcomes and long-term speech function

artículo científico

A catalog of hemizygous variation in 127 22q11 deletion patients

artículo científico publicado en 2016

A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome).

artículo científico publicado en 2011

Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome

artículo científico publicado en 2014

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

artículo científico publicado en 2008

Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing

artículo científico publicado en 2021

Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review

artículo científico publicado en 2018

Apolipoprotein E genotype modifies the risk of behavior problems after infant cardiac surgery

artículo científico publicado en 2009

Asymmetric crying facies in the 22q11.2 deletion syndrome: implications for future screening

artículo científico

Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion Syndrome

artículo científico publicado en 2017

B cell development in chromosome 22q11.2 deletion syndrome

artículo científico publicado en 2015

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

artículo científico publicado en 2008

CORRIGENDUM: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

artículo científico publicado en 2018

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

artículo científico publicado en 2016

Characteristic calcaneal ossification: an additional early radiographic finding in infants with fibrodysplasia ossificans progressiva

artículo científico publicado en 2016

Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.

artículo científico publicado en 2008

Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and at-risk for psychosis

artículo científico publicado en 2011

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature

article

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

artículo científico publicado en 2008

Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies.

artículo científico publicado en 2006

Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome

artículo científico publicado en 2013

Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status

scientific article published on 20 June 2019

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

artículo científico publicado en 2015

Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly

artículo científico publicado en 2022

Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

artículo científico publicado en 2018

Crane-Heise syndrome: a second familial case report with elaboration of phenotype.

artículo científico publicado en 2003

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.

artículo científico publicado en 2018

Disrupted anatomic networks in the 22q11.2 deletion syndrome

scientific article published on 25 August 2016

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25

artículo científico publicado en 2011

Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome

artículo científico publicado en 2018

Early diagnosis of fibrodysplasia ossificans progressiva

artículo científico publicado en 2008

Effect of congenital heart disease on 4-year neurodevelopment within multiple-gestation births

artículo científico publicado en 2017

Effect of congenital heart disease on neurodevelopmental outcomes within multiple-gestation births.

artículo científico publicado en 2005

Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome

artículo científico publicado en 2005

Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome

artículo científico publicado en 2004

Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.

artículo científico publicado en 2018

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes

artículo científico publicado en 2013

Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome

artículo científico publicado en 2009

Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome

artículo científico publicado en 2006

Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.

artículo científico publicado en 2013

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

artículo científico publicado en 2013

Further delineation of Kabuki syndrome in 48 well-defined new individuals.

artículo científico publicado en 2005

Further delineation of cardiac abnormalities in Costello syndrome

artículo científico publicado en 2002

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

artículo científico publicado en 2008

Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.

artículo científico publicado en 2016

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

article

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

artículo científico publicado en 2017

Genetic factors are important determinants of impaired growth after infant cardiac surgery

artículo científico publicado en 2010

Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot.

artículo científico publicado en 2008

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.

artículo científico publicado en 2017

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

artículo científico publicado en 2022

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

artículo científico publicado en 2011

Hearing Loss after Cardiac Surgery in Infancy: An Unintended Consequence of Life-Saving Care

artículo científico publicado en 2018

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

artículo científico publicado en 2015

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

artículo científico publicado en 2009

Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome

artículo científico publicado en 2015

Hyperglycemia after infant cardiac surgery does not adversely impact neurodevelopmental outcome

artículo científico publicado en 2007

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

scientific article published on 03 February 2009

Impact of psychiatric comorbidity and cognitive deficit on function in 22q11.2 deletion syndrome

artículo científico publicado en 2015

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

artículo científico publicado en 2017

Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects.

artículo científico publicado en 2006

Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy?

artículo científico publicado en 2010

Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.

artículo científico publicado en 2016

Maladaptive conflict monitoring as evidence for executive dysfunction in children with chromosome 22q11.2 deletion syndrome

artículo científico publicado en 2005

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

artículo científico publicado en 2007

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation

artículo científico publicado en 2015

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis

artículo científico publicado en 2013

Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study

artículo científico publicado en 2016

Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11.2 deletion syndrome

artículo científico publicado en 2016

Neurodevelopmental outcome after early repair of a ventricular septal defect with or without aortic arch obstruction.

artículo científico publicado en 2006

Neurodevelopmental outcomes after staged palliation for hypoplastic left heart syndrome.

artículo científico publicado en 2008

Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.

artículo científico publicado en 2013

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

artículo científico publicado en 2017

Ocular findings associated with chromosome 22q11.2 duplication.

artículo científico publicado en 2016

Otolaryngologic manifestations of the 22q11.2 deletion syndrome

artículo científico publicado en 2002

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

artículo científico publicado en 2012

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

artículo científico publicado en 2019

Patient characteristics are important determinants of neurodevelopmental outcome at one year of age after neonatal and infant cardiac surgery

artículo científico publicado en 2007

Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparison between US and Israeli cohorts

artículo científico publicado en 2016

Perioperative risk factors in patients with 22q11.2 deletion syndrome requiring surgery for velopharyngeal dysfunction

artículo científico publicado en 2014

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes ⬇️

journal article from 'European Journal of Medical Genetics' published in 2018

Predictors of impaired neurodevelopmental outcomes at one year of age after infant cardiac surgery

artículo científico publicado en 2009

RETRACTED: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

artículo científico publicado en 2017

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

artículo científico publicado en 2017

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

artículo científico publicado en 2016

Regional brain abnormalities in 22q11.2 deletion syndrome: association with cognitive abilities and behavioral symptoms

artículo científico publicado en 2004

Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

Risk of meningomyelocele mediated by the common 22q11.2 deletion

artículo científico publicado en 2024

Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome

artículo científico publicado en 2006

Subthreshold psychotic symptoms in 22q11.2 deletion syndrome

artículo científico publicado en 2014

T-cell lymphopenia in 22q11.2 deletion syndrome: Relationship to cardiac disease.

artículo científico publicado en 2017

The Psychosis Spectrum in 22q11.2 Deletion Syndrome Is Comparable to That of Nondeleted Youths.

artículo científico publicado en 2016

The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome.

artículo científico publicado en 2017

The relationship of postoperative electrographic seizures to neurodevelopmental outcome at 1 year of age after neonatal and infant cardiac surgery

artículo científico publicado en 2005

Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome

artículo científico publicado en 2003

Tracheal anomalies in Pfeiffer syndrome

article

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.

artículo científico publicado en 2012

Visuospatial and numerical cognitive deficits in children with chromosome 22q11.2 deletion syndrome

artículo científico publicado en 2005

White matter microstructural deficits in 22q11.2 deletion syndrome

artículo científico publicado en 2017

Lista de obras de

A 35-year experience with syndromic cleft palate repair: operative outcomes and long-term speech function

A catalog of hemizygous variation in 127 22q11 deletion patients

A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome).

Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing

Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review

Apolipoprotein E genotype modifies the risk of behavior problems after infant cardiac surgery

Asymmetric crying facies in the 22q11.2 deletion syndrome: implications for future screening

Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion Syndrome

B cell development in chromosome 22q11.2 deletion syndrome

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

CORRIGENDUM: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

Characteristic calcaneal ossification: an additional early radiographic finding in infants with fibrodysplasia ossificans progressiva

Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.

Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and at-risk for psychosis

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies.

Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome

Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly

Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Crane-Heise syndrome: a second familial case report with elaboration of phenotype.

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.

Disrupted anatomic networks in the 22q11.2 deletion syndrome

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25

Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome

Early diagnosis of fibrodysplasia ossificans progressiva

Effect of congenital heart disease on 4-year neurodevelopment within multiple-gestation births

Effect of congenital heart disease on neurodevelopmental outcomes within multiple-gestation births.

Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome

Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome

Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes

Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome

Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome

Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

Further delineation of Kabuki syndrome in 48 well-defined new individuals.

Further delineation of cardiac abnormalities in Costello syndrome

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Genetic factors are important determinants of impaired growth after infant cardiac surgery

Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

Hearing Loss after Cardiac Surgery in Infancy: An Unintended Consequence of Life-Saving Care

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome

Hyperglycemia after infant cardiac surgery does not adversely impact neurodevelopmental outcome

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

Impact of psychiatric comorbidity and cognitive deficit on function in 22q11.2 deletion syndrome

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects.

Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy?

Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.

Maladaptive conflict monitoring as evidence for executive dysfunction in children with chromosome 22q11.2 deletion syndrome

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis

Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study

Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11.2 deletion syndrome

Neurodevelopmental outcome after early repair of a ventricular septal defect with or without aortic arch obstruction.

Neurodevelopmental outcomes after staged palliation for hypoplastic left heart syndrome.

Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Ocular findings associated with chromosome 22q11.2 duplication.

Otolaryngologic manifestations of the 22q11.2 deletion syndrome

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

Patient characteristics are important determinants of neurodevelopmental outcome at one year of age after neonatal and infant cardiac surgery

Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparison between US and Israeli cohorts