Lista de obras -

A CEP215-HSET complex links centrosomes with spindle poles and drives centrosome clustering in cancer

artículo científico publicado en 2016

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

artículo científico publicado en 2005

A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity

artículo científico publicado en 2006

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

artículo científico publicado en 2000

A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome

artículo científico publicado en 2010

A gene for ataxic cerebral palsy maps to chromosome 9p12-q12.

artículo científico publicado en 2000

A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25

artículo científico publicado en 1999

A new Nav1.7 sodium channel mutation I234T in a child with severe pain

artículo científico publicado en 2010

A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR.

artículo científico publicado en 2004

A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy ⬇️

artículo científico publicado el 26 de octubre de 2010

A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development

artículo científico publicado en 2015

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

artículo científico publicado en 2002

A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2

artículo científico publicado en 2003

A primary microcephaly protein complex forms a ring around parental centrioles.

artículo científico publicado en 2011

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

artículo científico publicado en 2000

ASOX9Duplication and Familial 46,XX Developmental Testicular Disorder ⬇️

artículo científico publicado el 6 de enero de 2011

ASPM is a major determinant of cerebral cortical size

artículo científico publicado en 2002

ASPM mutations identified in patients with primary microcephaly and seizures

artículo científico publicado en 2005

Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion

artículo científico publicado en 2004

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

artículo científico publicado en 2000

An SCN9A channelopathy causes congenital inability to experience pain

artículo científico publicado en 2006

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings

artículo científico publicado en 2005

Autosomal recessive primary microcephaly due to ASPM mutations: An update

artículo científico publicado en 2017

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

artículo científico publicado en 2002

Before progressing from "exomes" to "genomes"… don't forget splicing variants

scientific article published on 12 July 2018

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

artículo científico publicado en 2018

CCDC88A mutations cause PEHO-like syndrome in humans and mouse

artículo científico publicado en 2016

Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development

artículo científico publicado en 2018

Comparison of enzyme mismatch cleavage and chemical cleavage of mismatch on a defined set of heteroduplexes

artículo científico publicado en 1997

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome

artículo científico publicado en 2004

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

artículo científico publicado en 2003

Critical consequences of finding three pathogenic mutations in an individual with recessive disease

artículo científico publicado en 2010

Cytoskeletal genes regulating brain size

artículo científico publicado en 2006

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features

scientific article published on 19 May 2020

Distinguishing the four genetic causes of Jouberts syndrome-related disorders

artículo científico publicado en 2005

Erratum: Corrigendum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

scholarly article published in Nature Genetics

Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

artículo científico publicado en 2015

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

artículo científico publicado en 2012

Expanding CEP290 mutational spectrum in ciliopathies

artículo científico publicado en 2009

Extreme growth failure is a common presentation of ligase IV deficiency

artículo científico publicado en 2013

Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome

artículo científico publicado en 2006

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

artículo científico publicado en 2009

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

artículo científico publicado en 2009

Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders ⬇️

artículo científico publicado en 2004

Human ASPM participates in spindle organisation, spindle orientation and cytokinesis ⬇️

artículo científico publicado el 2 de noviembre de 2010

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

artículo científico publicado en 2009

Identification of microcephalin, a protein implicated in determining the size of the human brain

artículo científico publicado en 2002

Investigating microcephaly

artículo científico publicado en 2013

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum

artículo científico publicado en 2003

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

artículo científico publicado en 2001

Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16.

artículo científico publicado en 2005

Loss-of-function mutations in sodium channel Nav1.7 cause anosmia.

artículo científico publicado en 2011

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

artículo científico publicado en 1999

MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.

artículo científico publicado en 2006

Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12

article

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

artículo científico publicado en 2006

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

artículo científico publicado en 2006

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

artículo científico publicado en 2008

Neurodevelopmental protein Musashi 1 interacts with the Zika genome and promotes viral replication ⬇️

artículo científico publicado en 2017

New Mendelian Disorders of Painlessness

artículo científico publicado en 2015

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations

artículo científico publicado en 1999

Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations

artículo científico publicado en 2015

PEHO syndrome: the endpoint of different genetic epilepsies

artículo científico publicado en 2018

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

artículo científico publicado en 2006

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins ⬇️

artículo científico publicado en 2017

Pain perception is altered by a nucleotide polymorphism in SCN9A

artículo científico publicado en 2010

Painful and painless channelopathies.

artículo científico

Potassium permanganate and tetraethylammonium chloride are a safe and effective substitute for osmium tetroxide in solid-phase fluorescent chemical cleavage of mismatch ⬇️

artículo científico publicado el 15 de agosto de 1997

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

artículo científico publicado en 1998

Primary microcephaly: do all roads lead to Rome?

artículo científico publicado en 2009

Protein-truncating mutations in ASPM cause variable reduction in brain size

artículo científico publicado en 2003

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

artículo científico publicado en 2006

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

artículo científico publicado en 2008

Regulation of Nav1.7: A Conserved SCN9A Natural Antisense Transcript Expressed in Dorsal Root Ganglia.

artículo científico publicado en 2015

Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use.

artículo científico publicado en 2014

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online

artículo científico publicado en 2007

Splice Variants of NaV1.7 Sodium Channels Have Distinct β Subunit-Dependent Biophysical Properties ⬇️

artículo científico publicado el 24 de julio de 2012

The continuing failure to recognise Alström syndrome and further evidence of genetic homogeneity

artículo científico publicado en 2000

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

artículo científico publicado en 2011

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

artículo científico publicado en 2005

The molecular landscape of ASPM mutations in primary microcephaly

artículo científico publicado en 2008

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

artículo científico publicado en 1999

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

artículo científico publicado en 2006

Transcriptional regulator PRDM12 is essential for human pain perception

artículo científico publicado en 2015

WDR62 is associated with the spindle pole and is mutated in human microcephaly

artículo científico publicado en 2010

Lista de obras de

A CEP215-HSET complex links centrosomes with spindle poles and drives centrosome clustering in cancer

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome

A gene for ataxic cerebral palsy maps to chromosome 9p12-q12.

A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25

A new Nav1.7 sodium channel mutation I234T in a child with severe pain

A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR.

A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy ⬇️

A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2

A primary microcephaly protein complex forms a ring around parental centrioles.

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

ASOX9Duplication and Familial 46,XX Developmental Testicular Disorder ⬇️

ASPM is a major determinant of cerebral cortical size

ASPM mutations identified in patients with primary microcephaly and seizures

Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

An SCN9A channelopathy causes congenital inability to experience pain

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings

Autosomal recessive primary microcephaly due to ASPM mutations: An update

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

Before progressing from "exomes" to "genomes"… don't forget splicing variants

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

CCDC88A mutations cause PEHO-like syndrome in humans and mouse

Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development

Comparison of enzyme mismatch cleavage and chemical cleavage of mismatch on a defined set of heteroduplexes

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

Critical consequences of finding three pathogenic mutations in an individual with recessive disease

Cytoskeletal genes regulating brain size

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features

Distinguishing the four genetic causes of Jouberts syndrome-related disorders

Erratum: Corrigendum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

Expanding CEP290 mutational spectrum in ciliopathies

Extreme growth failure is a common presentation of ligase IV deficiency

Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders ⬇️

Human ASPM participates in spindle organisation, spindle orientation and cytokinesis ⬇️

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

Identification of microcephalin, a protein implicated in determining the size of the human brain

Investigating microcephaly

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16.

Loss-of-function mutations in sodium channel Nav1.7 cause anosmia.

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.

Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

Neurodevelopmental protein Musashi 1 interacts with the Zika genome and promotes viral replication ⬇️

New Mendelian Disorders of Painlessness

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations

Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations

PEHO syndrome: the endpoint of different genetic epilepsies

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins ⬇️

Pain perception is altered by a nucleotide polymorphism in SCN9A

Painful and painless channelopathies.

Potassium permanganate and tetraethylammonium chloride are a safe and effective substitute for osmium tetroxide in solid-phase fluorescent chemical cleavage of mismatch ⬇️

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

Primary microcephaly: do all roads lead to Rome?

Protein-truncating mutations in ASPM cause variable reduction in brain size

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Regulation of Nav1.7: A Conserved SCN9A Natural Antisense Transcript Expressed in Dorsal Root Ganglia.

Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use.

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online

Splice Variants of NaV1.7 Sodium Channels Have Distinct β Subunit-Dependent Biophysical Properties ⬇️

The continuing failure to recognise Alström syndrome and further evidence of genetic homogeneity

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis