List of works - Raquel Rabionet

A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein

scientific article

A decade of structural variants: description, history and methods to detect structural variation

scientific article published on 15 April 2015

A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis.

scientific article

A genome-wide DNA methylation signature for SETD1B-related syndrome

scientific article published on 04 November 2019

A genome-wide association study of anorexia nervosa

scientific article

Allele balance bias identifies systematic genotyping errors and false disease associations

article

An Integrated Data Resource for Genomic Analysis of Cutaneous T-Cell Lymphoma

scholarly article by Li-Wei Chang published in July 2018

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes

scientific article published in December 2004

Are MYO1C and MYO1F associated with hearing loss?

scientific article

Association and gene-gene interaction of SLC6A4 and ITGB3 in autism.

scientific article published on March 2010

Association of neurexin 3 polymorphisms with smoking behavior

scientific article published on 17 July 2012

Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

scientific article published on 14 March 2019

Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder

scientific article published on 27 January 2022

Cluster analysis of clinical data identifies fibromyalgia subgroups

scientific article

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

scientific article (publication date: 15 April 2001)

Connexin mutations in hearing loss, dermatological and neurological disorders.

scientific article

Connexin-26 mutations in sporadic and inherited sensorineural deafness

scientific journal article

Correction: Genetic Structure of Europeans: A View from the North–East.

scientific article

Correction: PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data.

scientific article published on 6 November 2013

DNA methylation in neurodegenerative disorders: a missing link between genome and environment?

scientific article published on 04 May 2011

Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis

scientific article published on July 2011

Deletion of the late cornified envelope genes, LCE3C and LCE3B, is associated with rheumatoid arthritis

scientific article published in May 2010

Do polygenic risk and stressful life events predict pharmacological treatment response in obsessive compulsive disorder? A gene-environment interaction approach

article

Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes

Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitus

scientific article published on 01 September 2019

Exploring genetic variants in obsessive compulsive disorder severity: A GWAS approach

scientific article published on 29 January 2020

Genetic structure of Europeans: a view from the North-East

scientific article

Genome-Wide Association Study Reveals First Locus for Anorexia Nervosa and Metabolic Correlations

scholarly article

Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system

scientific article published on 26 February 2014

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

scientific article

Germline determinants of the somatic mutation landscape in 2,642 cancer genomes

article

High carrier frequency of the 35delG deafness mutation in European populations

article published in 2000

High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness

article

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression

scientific article published on 22 June 2002

Human genetics branches out in Barcelona

scientific article (publication date: 2008)

Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome

scientific article published on 30 March 2016

Identification of copy number variants defining genomic differences among major human groups

scientific article

Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene

scientific article (publication date: May 2000)

Lack of association between autism and SLC25A12

scientific article (publication date: May 2006)

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

scientific article

MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function

scientific article published on 10 May 2011

Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment

scientific article

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

scientific article published in January 2000

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

scientific article

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

scientific article (publication date: September 1999)

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients

scientific article (publication date: February 2002)

Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation

scientific article published on April 2000

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals

scientific article

PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome

scientific article published on 01 January 2019

PeSV-Fisher: identification of somatic and non-somatic structural variants using next generation sequencing data

scientific article

Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery

scientific article published on 14 June 2018

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

scientific article published on 16 February 2020

Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations

article

Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome

scientific article published in January 1999

TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches.

scientific article

The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness ⬇️

scientific article

The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome

scientific article published in 2021

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

scientific article

The emerging role of structural variations in common disorders: initial findings and discovery challenges

scientific article published on January 2008

The mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome

scientific article published on 10 June 2018

Variants at APOE influence risk of deep and lobar intracerebral hemorrhage

scientific article

Whole exome sequencing analysis reveals TRPV3 as a risk factor for cardioembolic stroke.

scientific article published on 8 September 2016

Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease.

scientific article

eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics

scientific article published on 21 May 2019

List of works by Raquel Rabionet

A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein

A decade of structural variants: description, history and methods to detect structural variation

A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis.

A genome-wide DNA methylation signature for SETD1B-related syndrome

A genome-wide association study of anorexia nervosa

Allele balance bias identifies systematic genotyping errors and false disease associations

An Integrated Data Resource for Genomic Analysis of Cutaneous T-Cell Lymphoma

Analysis of shared heritability in common disorders of the brain

Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes

Are MYO1C and MYO1F associated with hearing loss?

Association and gene-gene interaction of SLC6A4 and ITGB3 in autism.

Association of neurexin 3 polymorphisms with smoking behavior

Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder

Cluster analysis of clinical data identifies fibromyalgia subgroups

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

Connexin mutations in hearing loss, dermatological and neurological disorders.

Connexin-26 mutations in sporadic and inherited sensorineural deafness

Correction: Genetic Structure of Europeans: A View from the North–East.

Correction: PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data.

DNA methylation in neurodegenerative disorders: a missing link between genome and environment?

Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis

Deletion of the late cornified envelope genes, LCE3C and LCE3B, is associated with rheumatoid arthritis

Do polygenic risk and stressful life events predict pharmacological treatment response in obsessive compulsive disorder? A gene-environment interaction approach

Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes

Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitus

Exploring genetic variants in obsessive compulsive disorder severity: A GWAS approach

Genetic structure of Europeans: a view from the North-East

Genome-Wide Association Study Reveals First Locus for Anorexia Nervosa and Metabolic Correlations

Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

Germline determinants of the somatic mutation landscape in 2,642 cancer genomes

High carrier frequency of the 35delG deafness mutation in European populations

High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression

Human genetics branches out in Barcelona

Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome

Identification of copy number variants defining genomic differences among major human groups

Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene

Lack of association between autism and SLC25A12

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function

Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients

Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals

PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome

PeSV-Fisher: identification of somatic and non-somatic structural variants using next generation sequencing data

Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations

Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome

TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches.

The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness ⬇️

The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

The emerging role of structural variations in common disorders: initial findings and discovery challenges

The mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome

Variants at APOE influence risk of deep and lobar intracerebral hemorrhage

Whole exome sequencing analysis reveals TRPV3 as a risk factor for cardioembolic stroke.

Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease.

eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics