Lista de obras -

A Genocentric Approach to Discovery of Mendelian Disorders

scientific article published on 24 October 2019

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

artículo científico publicado en 2017

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

artículo científico publicado en 2016

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.

artículo científico publicado en 2016

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

scientific article published on 30 January 2020

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

artículo científico publicado en 2016

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

artículo científico publicado en 2020

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

artículo científico publicado en 2013

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

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

artículo científico publicado en 2015

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

artículo científico publicado en 2017

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

artículo científico publicado en 2018

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

artículo científico publicado en 2019

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

artículo científico publicado en 2014

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

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

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

artículo científico publicado en 2016

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

artículo científico publicado en 2013

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

artículo científico publicado en 2017

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

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 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

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

artículo científico publicado en 2020

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

artículo científico publicado en 2016

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

article

Molecular diagnostic experience of whole-exome sequencing in adult patients

artículo científico publicado en 2015

Molecular findings among patients referred for clinical whole-exome sequencing

artículo científico publicado en 2014

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

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

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

scientific journal article

POGZ truncating alleles cause syndromic intellectual disability.

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

artículo científico publicado en 2016

Reanalysis of Clinical Exome Sequencing Data

artículo científico publicado en 2019

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

artículo científico publicado en 2016

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

scientific journal article

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

artículo científico publicado en 2016

The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome

artículo científico publicado en 2020

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.

artículo científico publicado en 2017

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

artículo científico publicado en 2018

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 in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

artículo científico publicado en 2016

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

A Genocentric Approach to Discovery of Mendelian Disorders

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

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

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

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

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

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

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

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

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

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

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

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

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

Lessons learned from additional research analyses of unsolved clinical exome cases

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

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

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Molecular diagnostic experience of whole-exome sequencing in adult patients

Molecular findings among patients referred for clinical whole-exome sequencing

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

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

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

POGZ truncating alleles cause syndromic intellectual disability.

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

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

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Reanalysis of Clinical Exome Sequencing Data

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

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

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

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

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

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