Lista de obras -

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

artículo científico publicado en 2008

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

artículo científico publicado en 2016

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

artículo científico publicado en 2017

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

artículo científico publicado en 2011

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

artículo científico publicado en 2017

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?

artículo científico publicado en 2012

Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.

artículo científico publicado en 2016

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

artículo científico publicado en 2015

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.

artículo científico publicado en 2016

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

artículo científico publicado en 2013

Detection of clinically relevant exonic copy-number changes by array CGH.

artículo científico publicado en 2010

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

artículo científico publicado en 2017

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

artículo científico publicado en 2013

Genetic architecture of laterality defects revealed by whole exome sequencing

artículo científico publicado en 2019

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

artículo científico publicado en 2017

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases

artículo científico publicado en 2008

Identification of novel candidate disease genes from de novo exonic copy number variants.

artículo científico publicado en 2017

Lessons learned from additional research analyses of unsolved clinical exome cases

artículo científico publicado en 2017

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

artículo científico publicado en 2016

Mechanisms for Complex Chromosomal Insertions.

artículo científico publicado en 2016

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome

artículo científico publicado en 2014

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

artículo científico publicado en 2013

Other genomic disorders and congenital heart disease

artículo científico publicado en 2020

Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings

scientific article published on 06 May 2020

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

artículo científico publicado en 2014

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

artículo científico publicado en 2017

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

artículo científico publicado en 2012

Rare Variant in <i>MRC2</i> Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome

artículo científico publicado en 2024

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

artículo científico publicado en 2009

Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes

artículo científico publicado en 2020

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

artículo científico publicado en 2008

Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report

scientific article published on 04 September 2020

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

scientific article published on 27 June 2013

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

artículo científico publicado en 2017

Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1

artículo científico publicado en 2020

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

scientific article published on 31 March 2020

Lista de obras de

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?

Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

Detection of clinically relevant exonic copy-number changes by array CGH.

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

Genetic architecture of laterality defects revealed by whole exome sequencing

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases

Identification of novel candidate disease genes from de novo exonic copy number variants.

Lessons learned from additional research analyses of unsolved clinical exome cases

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

Mechanisms for Complex Chromosomal Insertions.

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

Other genomic disorders and congenital heart disease

Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

Rare Variant in <i>MRC2</i> Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation