Lista de obras -

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

artículo científico publicado en 2013

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

artículo científico publicado en 2012

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

artículo científico publicado en 2010

A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders

artículo científico publicado en 2009

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation

artículo científico publicado en 2006

A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia

scientific article published on 03 November 2011

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

artículo científico publicado en 2010

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

artículo científico publicado en 2009

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

artículo científico publicado en 2007

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

artículo científico publicado en 2011

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

artículo científico publicado en 2017

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.

artículo científico publicado en 2017

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

artículo científico publicado en 2015

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

artículo científico publicado en 2011

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly

artículo científico publicado en 2014

Clinical significance of de novo and inherited copy-number variation

artículo científico

Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts

artículo científico publicado en 2006

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

scientific article published on 12 June 2020

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

scientific article published on 27 February 2020

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

artículo científico publicado en 2019

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

artículo científico publicado en 2015

Development of a genotyping microarray for Usher syndrome

artículo científico publicado en 2006

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

artículo científico publicado en 2012

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

artículo científico publicado en 2010

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

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

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3.

artículo científico publicado en 2005

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations

artículo científico publicado en 2005

Genotype-phenotype correlations in MYCN-related Feingold syndrome

artículo científico publicado en 2008

Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.

artículo científico publicado en 2012

Homozygosity mapping in outbred families with mental retardation

artículo científico publicado en 2011

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems

scientific journal article

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

artículo científico publicado en 2017

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

artículo científico publicado en 2013

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

artículo científico publicado en 2011

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

artículo científico publicado en 2011

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 pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

artículo científico publicado en 2013

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids

artículo científico publicado en 2014

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.

artículo científico publicado en 2012

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

artículo científico publicado en 2014

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

artículo científico publicado en 2008

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

artículo científico publicado en 2015

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

artículo científico publicado en 2007

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

artículo científico publicado en 2011

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 DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

artículo científico publicado en 2012

Mutations in MED12 cause X-linked Ohdo syndrome

artículo científico publicado en 2013

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

artículo científico publicado en 2002

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

artículo científico publicado en 2012

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

artículo científico publicado en 2012

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

artículo científico publicado en 2010

Neurologic aspects of MECP2 gene duplication in male patients

artículo científico publicado en 2009

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

artículo científico publicado en 2009

PRPS1 mutations: four distinct syndromes and potential treatment.

artículo científico publicado en 2010

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

artículo científico publicado en 2012

Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.

artículo científico publicado en 2017

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

artículo científico publicado en 2012

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

scientific article published on 01 March 2010

Regulation of MYCN expression in human neuroblastoma cells.

artículo científico publicado en 2009

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

artículo científico publicado en 2009

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

artículo científico publicado en 2010

SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).

artículo científico publicado en 2015

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

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

scientific journal article

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

artículo científico publicado en 2010

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

artículo científico publicado en 2009

The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?

artículo científico

The contribution of the nonhomologous region of Prs1 to the maintenance of cell wall integrity and cell viability

artículo científico publicado en 2013

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

artículo científico publicado en 2012

UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome

artículo científico publicado en 2006

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

artículo científico publicado en 2004

Variants in CUL4B are associated with cerebral malformations

artículo científico publicado en 2015

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

scientific article published on 01 December 2018

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

artículo científico publicado en 2014

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

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation

A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

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

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly

Clinical significance of de novo and inherited copy-number variation

Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

Development of a genotyping microarray for Usher syndrome

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

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

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3.

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations

Genotype-phenotype correlations in MYCN-related Feingold syndrome

Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.

Homozygosity mapping in outbred families with mental retardation

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

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

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

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

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

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 DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

Mutations in MED12 cause X-linked Ohdo syndrome

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

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

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

Neurologic aspects of MECP2 gene duplication in male patients

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

PRPS1 mutations: four distinct syndromes and potential treatment.

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

Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

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

Regulation of MYCN expression in human neuroblastoma cells.

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).

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

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?

The contribution of the nonhomologous region of Prs1 to the maintenance of cell wall integrity and cell viability

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

Variants in CUL4B are associated with cerebral malformations

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

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