Lista de obras -

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

artículo científico publicado en 2016

A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations ⬇️

artículo científico publicado el 1 de septiembre de 2010

A case of familial isolated hemihyperplasia

artículo científico publicado en 2004

A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

artículo científico publicado en 2015

A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome

artículo científico publicado en 2011

Alterations in white matter pathways in Angelman syndrome ⬇️

artículo científico publicado el 1 de diciembre de 2010

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

artículo científico publicado en 2015

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

artículo científico publicado en 2017

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

artículo científico publicado en 2015

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

artículo científico publicado en 2019

Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency

artículo científico publicado en 2007

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

artículo científico publicado en 2020

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

artículo científico publicado en 2009

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

artículo científico publicado en 2011

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

artículo científico publicado en 2007

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

artículo científico publicado en 2007

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

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

scientific article published on 26 March 2009

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

scientific article published on 17 May 2019

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

artículo científico publicado en 2017

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article published on 01 April 2017

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

artículo científico publicado en 2014

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Early childhood presentation of Czech dysplasia

artículo científico publicado en 2013

Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene

artículo científico publicado en 2010

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

artículo científico publicado en 2013

Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease

artículo científico publicado en 2005

Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

artículo científico publicado en 2008

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

artículo científico publicado en 2017

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

artículo científico publicado en 2014

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

artículo científico publicado en 2009

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

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results

artículo científico publicado en 2010

Lessons learned from additional research analyses of unsolved clinical exome cases

artículo científico publicado en 2017

Lysinuric Protein Intolerance Presenting with Multiple Fractures.

artículo científico publicado en 2014

Mechanisms for Complex Chromosomal Insertions.

artículo científico publicado en 2016

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

article

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

artículo científico publicado en 2012

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.

artículo científico publicado en 2014

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

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

artículo científico publicado en 2016

Phenotypic expansion in - a common cause of intellectual disability in females

artículo científico publicado en 2018

Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome

artículo científico publicado en 2003

Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.

artículo científico

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

artículo científico publicado en 2012

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

scientific journal article

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

artículo científico publicado en 2011

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

artículo científico publicado en 2010

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

artículo científico publicado en 2008

Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation

artículo científico publicado en 2008

SNP genotyping to screen for a common deletion in CHARGE syndrome

artículo científico publicado en 2005

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases

artículo científico publicado en 2014

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

artículo científico publicado en 2005

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

artículo científico publicado en 2010

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

Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation

artículo científico publicado en 2014

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

artículo científico publicado en 2016

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

Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia

artículo científico publicado en 2014

Lista de obras de

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations ⬇️

A case of familial isolated hemihyperplasia

A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome

Alterations in white matter pathways in Angelman syndrome ⬇️

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

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?

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

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

Early childhood presentation of Czech dysplasia

Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene

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

Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease

Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

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.

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results

Lessons learned from additional research analyses of unsolved clinical exome cases

Lysinuric Protein Intolerance Presenting with Multiple Fractures.

Mechanisms for Complex Chromosomal Insertions.

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia

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

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.

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

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Phenotypic expansion in - a common cause of intellectual disability in females

Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome

Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

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

Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation

SNP genotyping to screen for a common deletion in CHARGE syndrome

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

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

Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

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

Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia