Lista de obras -

A 15q13.3 microdeletion segregating with autism

artículo científico publicado en 2008

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

artículo científico publicado en 2017

A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS

artículo científico publicado en 2015

A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma

artículo científico publicado en 2014

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3

artículo científico publicado en 2011

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.

artículo científico publicado en 2018

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

artículo científico publicado en 2011

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

scientific article published on 10 August 2012

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

artículo científico publicado en 2020

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities

artículo científico publicado en 2016

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

artículo científico publicado en 2017

Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

artículo científico publicado en 2020

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

artículo científico publicado en 2018

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

artículo científico publicado en 2021

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

artículo científico publicado en 2021

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

CNVs leading to fusion transcripts in individuals with autism spectrum disorder

artículo científico publicado en 2012

Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia

artículo científico publicado en 2010

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.

artículo científico publicado en 2019

Clinical spectrum of STX1B-related epileptic disorders.

artículo científico publicado en 2019

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

artículo científico publicado en 2014

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.

scientific article published on 13 September 2016

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

artículo científico publicado en 2014

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

artículo científico publicado en 2009

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

artículo científico publicado en 2016

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

artículo científico publicado en 2019

De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation.

artículo científico publicado en 2016

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

artículo científico publicado en 2014

Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice

artículo científico publicado en 2019

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

artículo científico publicado en 2005

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome

artículo científico publicado en 2015

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

artículo científico publicado en 2019

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

artículo científico publicado en 2010

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

artículo científico publicado en 2006

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

artículo científico publicado en 2011

FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency

artículo científico publicado en 2021

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

artículo científico publicado en 2010

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

artículo científico publicado en 2015

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

artículo científico publicado en 2015

Functional impact of global rare copy number variation in autism spectrum disorders

artículo científico publicado en 2010

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

artículo científico publicado en 2015

Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment

artículo científico publicado en 2014

Human induced pluripotent stem cell derived erythroblasts can undergo definitive erythropoiesis and co-express gamma and beta globins

artículo científico publicado en 2014

Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

artículo científico publicado en 2016

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

scientific article published on 25 July 2019

Individual common variants exert weak effects on the risk for autism spectrum disorders

scientific journal article

Multiple endocrine neoplasia type 1 (MEN1) 5' UTR deletion, in MEN1 family, decreases menin expression

artículo científico publicado en 2020

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

scientific article published on 15 November 2018

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation

artículo científico publicado en 2014

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

artículo científico publicado en 2015

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

scientific article published on 03 October 2016

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism

artículo científico publicado en 2011

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

scientific article published on 08 April 2020

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

artículo científico publicado en 2019

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

scientific journal article

Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry ⬇️

artículo científico publicado el 25 de marzo de 2010

Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter

artículo científico publicado en 2020

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

artículo científico publicado en 2011

Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disability

artículo científico publicado en 2021

Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation

artículo científico publicado en 2020

Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'

artículo científico publicado en 2014

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

scientific article published on 07 December 2020

Sequencing of human genomes with nanopore technology

artículo científico publicado en 2019

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

artículo científico publicado en 2016

The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom

artículo científico publicado en 2019

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

artículo científico publicado en 2024

The role of rare compound heterozygous events in autism spectrum disorder

artículo científico publicado en 2020

Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia

artículo científico publicado en 2020

Lista de obras de

A 15q13.3 microdeletion segregating with autism

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS

A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3

A genome-wide scan for common alleles affecting risk for autism

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

CNVs leading to fusion transcripts in individuals with autism spectrum disorder

Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.

Clinical spectrum of STX1B-related epileptic disorders.

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation.

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Functional impact of global rare copy number variation in autism spectrum disorders

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment

Human induced pluripotent stem cell derived erythroblasts can undergo definitive erythropoiesis and co-express gamma and beta globins

Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

Individual common variants exert weak effects on the risk for autism spectrum disorders

Multiple endocrine neoplasia type 1 (MEN1) 5' UTR deletion, in MEN1 family, decreases menin expression

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry ⬇️

Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disability

Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation

Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

Sequencing of human genomes with nanopore technology

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

The role of rare compound heterozygous events in autism spectrum disorder

Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia