Lista de obras -

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

artículo científico publicado en 2013

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

artículo científico publicado en 2013

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

artículo científico publicado en 2014

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype

artículo científico publicado en 2013

An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity

artículo científico publicado en 2016

Antagonistic modulation of NPY/AgRP and POMC neurons in the arcuate nucleus by noradrenalin.

artículo científico publicado en 2017

Assessing the enrichment performance in targeted resequencing experiments

artículo científico publicado en 2012

Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway

artículo científico publicado en 2006

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

scientific article published on 26 September 2019

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

artículo científico publicado en 2015

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

artículo científico publicado en 2013

CHD2 variants are a risk factor for photosensitivity in epilepsy

artículo científico publicado en 2015

Characterization of non-olfactory GPCRs in human sperm with a focus on GPR18

artículo científico publicado en 2016

Complete characterization of the edited transcriptome of the mitochondrion of Physarum polycephalum using deep sequencing of RNA.

artículo científico publicado en 2011

Comprehensive RNA-Seq expression analysis of sensory ganglia with a focus on ion channels and GPCRs in Trigeminal ganglia

artículo científico publicado en 2013

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

artículo científico publicado en 2017

Deciphering the genetic basis of microcystin tolerance

artículo científico publicado en 2014

Deep sequencing of the murine olfactory receptor neuron transcriptome

artículo científico publicado en 2015

Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients

artículo científico publicado en 2021

Floral Induction in Arabidopsis by FLOWERING LOCUS T Requires Direct Repression of BLADE-ON-PETIOLE Genes by the Homeodomain Protein PENNYWISE.

artículo científico publicado en 2015

Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancer.

artículo científico publicado en 2010

Genomewide scans of complex human diseases: true linkage is hard to find

artículo científico publicado en 2001

Genome‐wide patterns of transposon proliferation in an evolutionary young hybrid fish

scientific article published on 06 February 2019

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

artículo científico publicado en 2017

High-resolution SNP scan of chromosome 6p21 in pooled samples from patients with complex diseases

artículo científico publicado en 2003

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

artículo científico publicado en 2014

Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis ⬇️

artículo científico publicado el 20 de enero de 2013

Human trace amine-associated receptor TAAR5 can be activated by trimethylamine

artículo científico publicado en 2013

Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data

artículo científico publicado en 2015

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

artículo científico publicado en 2013

Ion transporter NKCC1, modulator of neurogenesis in murine olfactory neurons

artículo científico publicado en 2015

Lifestyle transitions in plant pathogenic Colletotrichum fungi deciphered by genome and transcriptome analyses

artículo científico publicado en 2012

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

scientific journal article

MCH Neurons Regulate Permeability of the Median Eminence Barrier

artículo científico publicado en 2020

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.

artículo científico publicado en 2017

Mutation of POC1B in a severe syndromic retinal ciliopathy

artículo científico publicado en 2014

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

artículo científico publicado en 2014

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

artículo científico publicado en 2014

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

scientific journal article

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

artículo científico publicado en 2011

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families

artículo científico publicado en 2005

Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations

scientific journal article

R-loops trigger the release of cytoplasmic ssDNAs leading to chronic inflammation upon DNA damage

artículo científico publicado en 2021

RBFOX1 and RBFOX3 mutations in rolandic epilepsy

artículo científico publicado en 2013

RNA polymerase II is required for spatial chromatin reorganization following exit from mitosis

artículo científico publicado en 2021

RNA-Seq Analysis of Human Trigeminal and Dorsal Root Ganglia with a Focus on Chemoreceptors

artículo científico publicado en 2015

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

artículo científico publicado en 2013

SOX9 duplication linked to intersex in deer

artículo científico publicado en 2013

Sensitive detection of viral transcripts in human tumor transcriptomes

artículo científico publicado en 2013

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in <i>BRCA1/2</i>: results of the observational AGO-TR1 study (NCT02222883)

scientific article published on 03 December 2020

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

artículo científico publicado en 2009

Single nucleotide polymorphism screening and association analysis--exclusion of integrin beta 7 and vitamin D receptor (chromosome 12q) as candidate genes for asthma

artículo científico publicado en 2004

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3

scientific journal article

Specific combinations of biallelic variants cause Wiedemann-Rautenstrauch syndrome

scientific article published on 15 October 2018

The genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in Nematoda

artículo científico publicado en 2013

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype

scientific article published on 24 December 2019

Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours

artículo científico publicado en 2020

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation

artículo científico publicado en 2012

Lista de obras de

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype

An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity

Antagonistic modulation of NPY/AgRP and POMC neurons in the arcuate nucleus by noradrenalin.

Assessing the enrichment performance in targeted resequencing experiments

Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

CHD2 variants are a risk factor for photosensitivity in epilepsy

Characterization of non-olfactory GPCRs in human sperm with a focus on GPR18

Complete characterization of the edited transcriptome of the mitochondrion of Physarum polycephalum using deep sequencing of RNA.

Comprehensive RNA-Seq expression analysis of sensory ganglia with a focus on ion channels and GPCRs in Trigeminal ganglia

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Deciphering the genetic basis of microcystin tolerance

Deep sequencing of the murine olfactory receptor neuron transcriptome

Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients

Floral Induction in Arabidopsis by FLOWERING LOCUS T Requires Direct Repression of BLADE-ON-PETIOLE Genes by the Homeodomain Protein PENNYWISE.

Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancer.

Genomewide scans of complex human diseases: true linkage is hard to find

Genome‐wide patterns of transposon proliferation in an evolutionary young hybrid fish

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

High-resolution SNP scan of chromosome 6p21 in pooled samples from patients with complex diseases

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis ⬇️

Human trace amine-associated receptor TAAR5 can be activated by trimethylamine

Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

Ion transporter NKCC1, modulator of neurogenesis in murine olfactory neurons

Lifestyle transitions in plant pathogenic Colletotrichum fungi deciphered by genome and transcriptome analyses

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

MCH Neurons Regulate Permeability of the Median Eminence Barrier

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.

Mutation of POC1B in a severe syndromic retinal ciliopathy

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families

Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations

R-loops trigger the release of cytoplasmic ssDNAs leading to chronic inflammation upon DNA damage

RBFOX1 and RBFOX3 mutations in rolandic epilepsy

RNA polymerase II is required for spatial chromatin reorganization following exit from mitosis

RNA-Seq Analysis of Human Trigeminal and Dorsal Root Ganglia with a Focus on Chemoreceptors

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

SOX9 duplication linked to intersex in deer

Sensitive detection of viral transcripts in human tumor transcriptomes

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in <i>BRCA1/2</i>: results of the observational AGO-TR1 study (NCT02222883)

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

Single nucleotide polymorphism screening and association analysis--exclusion of integrin beta 7 and vitamin D receptor (chromosome 12q) as candidate genes for asthma

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3

Specific combinations of biallelic variants cause Wiedemann-Rautenstrauch syndrome

The genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in Nematoda

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype

Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation