Lista de obras -

1 in 38 individuals at risk of a dominant medically actionable disease

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

artículo científico publicado en 2013

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

artículo científico publicado en 2013

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

artículo científico publicado en 2014

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

artículo científico publicado en 2017

A cytogenetic study in a large population of intellectually disabled Indonesians

artículo científico publicado en 2011

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

artículo científico publicado en 2016

A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

scientific journal article

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

artículo científico publicado en 2014

BRCA Testing by Single-Molecule Molecular Inversion Probes

artículo científico publicado en 2016

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

artículo científico publicado en 2011

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

artículo científico publicado en 2011

Cellular ciliary phenotyping indicates pathogenicity of novel variants in and confirms a Mainzer-Saldino syndrome diagnosis

artículo científico publicado en 2018

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

scientific journal article

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

scientific journal article

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

artículo científico publicado en 2016

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

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

artículo científico publicado en 2016

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

artículo científico publicado en 2017

Diagnostic exome sequencing in persons with severe intellectual disability

article by Joep de Ligt et al published 15 November 2012 in The New England Journal of Medicine

Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

scholarly article published in European Journal of Human Genetics

Evidence for 28 genetic disorders discovered by combining healthcare and research data

artículo científico publicado en 2020

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

artículo científico publicado en 2002

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

artículo científico publicado en 2015

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

artículo científico publicado en 2014

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

artículo científico publicado en 2013

Genome sequencing identifies major causes of severe intellectual disability

artículo científico publicado en 2014

Guidelines for diagnostic next-generation sequencing

artículo científico publicado en 2015

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

artículo científico publicado en 2014

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

artículo científico publicado en 2010

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

artículo científico publicado en 2018

High prevalence of SLC6A8 deficiency in X-linked mental retardation

artículo científico publicado en 2004

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II

artículo científico publicado en 2004

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

artículo científico publicado en 2014

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

artículo científico publicado en 2016

Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient

artículo científico publicado en 2012

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

artículo científico publicado en 2007

Mutations in MED12 cause X-linked Ohdo syndrome

artículo científico publicado en 2013

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

artículo científico publicado en 2012

Mutations in the human TBX4 gene cause small patella syndrome

artículo científico publicado en 2004

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

artículo científico publicado en 2003

NR2F1 mutations cause optic atrophy with intellectual disability.

artículo científico publicado en 2014

Nonsyndromic X-linked mental retardation: where are the missing mutations?

artículo científico publicado en 2003

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

artículo científico publicado en 2011

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

artículo científico publicado en 2016

Phenotypic and molecular insights into CASK-related disorders in males

artículo científico publicado en 2015

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.

artículo científico publicado en 2012

Predictors and risk model development for menopausal age in fragile X premutation carriers

artículo científico publicado en 2011

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

artículo científico publicado en 2013

Presence of Genetic Variants Among Young Men With Severe COVID-19

scientific article published on 24 July 2020

Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics

artículo científico publicado en 2013

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

artículo científico publicado en 2008

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study

artículo científico publicado en 2013

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

artículo científico publicado en 2016

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

scientific article published on 13 December 2016

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.

artículo científico publicado en 2014

Variants in CUL4B are associated with cerebral malformations

artículo científico publicado en 2015

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations

artículo científico publicado en 2013

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

artículo científico publicado en 2005

Lista de obras de

1 in 38 individuals at risk of a dominant medically actionable disease

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

A cytogenetic study in a large population of intellectually disabled Indonesians

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study

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

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

BRCA Testing by Single-Molecule Molecular Inversion Probes

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

Cellular ciliary phenotyping indicates pathogenicity of novel variants in and confirms a Mainzer-Saldino syndrome diagnosis

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

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

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Diagnostic exome sequencing in persons with severe intellectual disability

Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Evidence for 28 genetic disorders discovered by combining healthcare and research data

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

Genome sequencing identifies major causes of severe intellectual disability

Guidelines for diagnostic next-generation sequencing

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

High prevalence of SLC6A8 deficiency in X-linked mental retardation

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

Mutations in MED12 cause X-linked Ohdo syndrome

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

Mutations in the human TBX4 gene cause small patella syndrome

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

NR2F1 mutations cause optic atrophy with intellectual disability.

Nonsyndromic X-linked mental retardation: where are the missing mutations?

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

Phenotypic and molecular insights into CASK-related disorders in males

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.

Predictors and risk model development for menopausal age in fragile X premutation carriers

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

Presence of Genetic Variants Among Young Men With Severe COVID-19

Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.

Variants in CUL4B are associated with cerebral malformations

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation