Lista de obras -

A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome.

artículo científico publicado en 2017

A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations

artículo científico publicado en 2017

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

artículo científico publicado en 2013

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

artículo científico publicado en 2017

Arts syndrome is caused by loss-of-function mutations in PRPS1

artículo científico publicado en 2007

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

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

artículo científico publicado en 2010

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

artículo científico publicado en 2018

Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls.

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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 266 Dutch patients with visual impairment.

artículo científico publicado en 2017

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

artículo científico publicado en 2005

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

Genotype-phenotype correlations in MYCN-related Feingold syndrome

artículo científico publicado en 2008

High-resolution genomic microarrays for X-linked mental retardation.

artículo científico publicado en 2007

Identity of the RNase MRP- and RNase P-associated Th/To autoantigen

artículo científico publicado en 2002

Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series

scientific article published on 22 August 2019

Intestinal failure and aberrant lipid metabolism in patients with DGAT1 deficiency.

artículo científico publicado en 2018

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

artículo científico publicado en 2007

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

artículo científico publicado en 2014

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

artículo científico publicado en 2012

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

artículo científico publicado en 2017

Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling

scientific article published on 18 September 2018

Neurologic aspects of MECP2 gene duplication in male patients

artículo científico publicado en 2009

Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

artículo científico publicado en 2016

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

scientific article published on 01 March 2010

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

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

scientific article published on 21 November 2020

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

artículo científico publicado en 2018

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia

artículo científico publicado en 2017

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

artículo científico publicado en 2009

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

A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome.

A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations

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

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

Arts syndrome is caused by loss-of-function mutations in PRPS1

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

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

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

Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls.

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

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

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

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

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

Genotype-phenotype correlations in MYCN-related Feingold syndrome

High-resolution genomic microarrays for X-linked mental retardation.

Identity of the RNase MRP- and RNase P-associated Th/To autoantigen

Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series

Intestinal failure and aberrant lipid metabolism in patients with DGAT1 deficiency.

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

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling

Neurologic aspects of MECP2 gene duplication in male patients

Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

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

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

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