Lista de obras -

'Location, Location, Location': a spatial approach for rare variant analysis and an application to a study on non-syndromic cleft lip with or without cleft palate

artículo científico publicado en 2012

A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q

scientific article published on 01 November 2020

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

artículo científico publicado en 2009

A phenotype map for 14q32.3 terminal deletions.

artículo científico publicado en 2012

A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate

scientific article published on 01 March 2015

Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality

artículo científico publicado en 2021

Age-specific frequencies of antibodies to Escherichia coli verocytotoxins (Shiga toxins) 1 and 2 among urban and rural populations in southern Ontario

artículo científico publicado en 2003

Allele-specific transcription factor binding in a cellular model of orofacial clefting

artículo científico publicado en 2022

Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families.

artículo científico publicado en 2017

Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample

article

Breakthroughs in the genetics of orofacial clefting

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Cleft lip/palate and educational attainment: cause, consequence or correlation? A Mendelian-randomization study

scientific article published on 06 May 2020

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

artículo científico publicado en 2021

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome

artículo científico publicado en 2014

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

artículo científico publicado en 2019

Dissection of phenotype reveals possible association between schizophrenia and Glutamate Receptor Delta 1 (GRID1) gene promoter

artículo científico publicado en 2009

EXOME SEQUENCING OF MULTIPLY AFFECTED BIPOLAR DISORDER FAMILIES AND FOLLOW-UP RESEQUENCING IMPLICATE RARE VARIANTS IN NEURONAL GENES CONTRIBUTING TO DISEASE ETIOLOGY

artículo científico publicado en 2019

Encephalopathy and exposure to Shiga toxin without evidence of haemolytic uraemic syndrome

artículo científico publicado en 2002

Escherichia coli O157 fails to induce a long-lasting lipopolysaccharide-specific, measurable humoral immune response in children with hemolytic-uremic syndrome

artículo científico publicado en 2002

Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate

artículo científico publicado en 2012

Evaluating eight newly identified susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population

artículo científico publicado en 2013

Evaluating shared genetic influences on nonsyndromic cleft lip/palate and oropharyngeal neoplasms

artículo científico publicado en 2020

Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate.

artículo científico publicado en 2019

Exome sequencing in large, multiplex bipolar disorder families from Cuba

artículo científico publicado en 2018

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

artículo científico publicado en 2022

Extending the allelic spectrum at noncoding risk loci of orofacial clefting

artículo científico publicado en 2021

FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish

artículo científico publicado en 2011

Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate

artículo científico publicado en 2016

Further evidence for genetic variation at the serotonin transporter gene SLC6A4 contributing toward anxiety.

artículo científico publicado en 2017

Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort

artículo científico publicado en 2013

Genetic determination of human facial morphology: links between cleft-lips and normal variation

artículo científico publicado en 2011

Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25.

artículo científico publicado en 2010

Genome Wide Association Scan identifies new variants associated with a cognitive predictor of dyslexia

Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity

artículo científico publicado en 2017

Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts.

artículo científico publicado en 2013

Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

artículo científico publicado en 2019

Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy

artículo científico publicado en 2015

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

artículo científico publicado en 2009

Genome-wide association study of alcohol dependence

scientific journal article

Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia

artículo científico publicado en 2020

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

scientific journal article

IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate

artículo científico publicado en 2009

Identification of loci of functional relevance to Barrett's esophagus and esophageal adenocarcinoma: Cross-referencing of expression quantitative trait loci data from disease-relevant tissues with genetic association data

artículo científico publicado en 2019

Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2.

scientific article published on 23 September 2016

Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only

artículo científico publicado en 2017

Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate

artículo científico publicado en 2021

Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology

artículo científico publicado en 2018

Investigation of dominant and recessive inheritance models in genome-wide association studies data of nonsyndromic cleft lip with or without cleft palate

scientific article published on 14 November 2017

Investigation of interaction between DCDC2 and KIAA0319 in a large German dyslexia sample

artículo científico publicado en 2008

Investigation of the DCDC2 intron 2 deletion/compound short tandem repeat polymorphism in a large German dyslexia sample

artículo científico publicado en 2008

Is it rare or common?

artículo científico publicado en 2012

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.

artículo científico publicado en 2009

LAMP-Seq enables sensitive, multiplexed COVID-19 diagnostics using molecular barcoding

artículo científico publicado en 2021

Mapping for dyslexia and related cognitive trait loci provides strong evidence for further risk genes on chromosome 6p21

article

Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene

artículo científico publicado en 2016

Molecular Genetic Screening in Patients With ACE Inhibitor/Angiotensin Receptor Blocker-Induced Angioedema to Explore the Role of Hereditary Angioedema Genes

artículo científico publicado en 2022

Msx1 deficiency interacts with hypoxia and induces a morphogenetic regulation during lip development

artículo científico publicado en 2020

New susceptibility loci for severe COVID-19 by detailed GWAS analysis in European populations

artículo científico

Nine newly identified individuals refine the phenotype associated with MYT1L mutations

artículo científico publicado en 2020

Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene

scientific article published on 07 December 2019

Nonsyndromic cleft lip with or without cleft palate and cancer: Evaluation of a possible common genetic background through the analysis of GWAS data

artículo científico publicado en 2016

Nonsyndromic cleft lip with or without cleft palate in arab populations: genetic analysis of 15 risk loci in a novel case-control sample recruited in Yemen

artículo científico publicado en 2014

Nonsyndromic cleft lip with or without cleft palate: Increased burden of rare variants within Gremlin-1, a component of the bone morphogenetic protein 4 pathway

artículo científico publicado en 2014

Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sample

artículo científico publicado en 2018

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

artículo científico publicado en 2016

On the analysis of sequence data: testing for disease susceptibility loci using patterns of linkage disequilibrium

artículo científico publicado en 2011

Properties of permutation-based gene tests and controlling type 1 error using a summary statistic based gene test

artículo científico publicado en 2013

Reactive Neutrophil Responses Dependent on the Receptor Tyrosine Kinase c-MET Limit Cancer Immunotherapy

artículo científico publicado en 2017

Replication analysis of 15 susceptibility loci for nonsyndromic cleft lip with or without cleft palate in an italian population

artículo científico publicado en 2015

Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients

article published in 2009

Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate

artículo científico publicado en 2012

SUMO1 as a candidate gene for non-syndromic cleft lip with or without cleft palate: No evidence for the involvement of common or rare variants in Central European patients

article

Saliva IgM and IgA are a sensitive indicator of the humoral immune response to Escherichia coli O157 lipopolysaccharide in children with enteropathic hemolytic uremic syndrome

artículo científico publicado en 2002

Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

artículo científico publicado en 2016

Shiga toxin-producing Escherichia coli infection and antibodies against Stx2 and Stx1 in household contacts of children with enteropathic hemolytic-uremic syndrome

artículo científico publicado en 2002

Structure-guided multivalent nanobodies block SARS-CoV-2 infection and suppress mutational escape

artículo científico publicado en 2021

Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients

artículo científico publicado en 2010

Variation in GRIN2B contributes to weak performance in verbal short-term memory in children with dyslexia.

artículo científico publicado en 2010

p63 establishes epithelial enhancers at critical craniofacial development genes

artículo científico publicado en 2019

Lista de obras de

'Location, Location, Location': a spatial approach for rare variant analysis and an application to a study on non-syndromic cleft lip with or without cleft palate

A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

A phenotype map for 14q32.3 terminal deletions.

A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate

Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality

Age-specific frequencies of antibodies to Escherichia coli verocytotoxins (Shiga toxins) 1 and 2 among urban and rural populations in southern Ontario

Allele-specific transcription factor binding in a cellular model of orofacial clefting

Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families.

Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample

Breakthroughs in the genetics of orofacial clefting

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

Cleft lip/palate and educational attainment: cause, consequence or correlation? A Mendelian-randomization study

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

Dissection of phenotype reveals possible association between schizophrenia and Glutamate Receptor Delta 1 (GRID1) gene promoter

EXOME SEQUENCING OF MULTIPLY AFFECTED BIPOLAR DISORDER FAMILIES AND FOLLOW-UP RESEQUENCING IMPLICATE RARE VARIANTS IN NEURONAL GENES CONTRIBUTING TO DISEASE ETIOLOGY

Encephalopathy and exposure to Shiga toxin without evidence of haemolytic uraemic syndrome

Escherichia coli O157 fails to induce a long-lasting lipopolysaccharide-specific, measurable humoral immune response in children with hemolytic-uremic syndrome

Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate

Evaluating eight newly identified susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population

Evaluating shared genetic influences on nonsyndromic cleft lip/palate and oropharyngeal neoplasms

Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate.

Exome sequencing in large, multiplex bipolar disorder families from Cuba

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

Extending the allelic spectrum at noncoding risk loci of orofacial clefting

FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish

Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate

Further evidence for genetic variation at the serotonin transporter gene SLC6A4 contributing toward anxiety.

Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort

Genetic determination of human facial morphology: links between cleft-lips and normal variation

Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25.

Genome Wide Association Scan identifies new variants associated with a cognitive predictor of dyslexia

Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity

Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts.

Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

Genome-wide association study of alcohol dependence

Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate

Identification of loci of functional relevance to Barrett's esophagus and esophageal adenocarcinoma: Cross-referencing of expression quantitative trait loci data from disease-relevant tissues with genetic association data

Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2.

Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only

Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate

Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology

Investigation of dominant and recessive inheritance models in genome-wide association studies data of nonsyndromic cleft lip with or without cleft palate

Investigation of interaction between DCDC2 and KIAA0319 in a large German dyslexia sample

Investigation of the DCDC2 intron 2 deletion/compound short tandem repeat polymorphism in a large German dyslexia sample

Is it rare or common?

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.

LAMP-Seq enables sensitive, multiplexed COVID-19 diagnostics using molecular barcoding

Mapping for dyslexia and related cognitive trait loci provides strong evidence for further risk genes on chromosome 6p21

Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene

Molecular Genetic Screening in Patients With ACE Inhibitor/Angiotensin Receptor Blocker-Induced Angioedema to Explore the Role of Hereditary Angioedema Genes

Msx1 deficiency interacts with hypoxia and induces a morphogenetic regulation during lip development

New susceptibility loci for severe COVID-19 by detailed GWAS analysis in European populations

Nine newly identified individuals refine the phenotype associated with MYT1L mutations

Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene

Nonsyndromic cleft lip with or without cleft palate and cancer: Evaluation of a possible common genetic background through the analysis of GWAS data

Nonsyndromic cleft lip with or without cleft palate in arab populations: genetic analysis of 15 risk loci in a novel case-control sample recruited in Yemen

Nonsyndromic cleft lip with or without cleft palate: Increased burden of rare variants within Gremlin-1, a component of the bone morphogenetic protein 4 pathway

Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sample

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

On the analysis of sequence data: testing for disease susceptibility loci using patterns of linkage disequilibrium

Properties of permutation-based gene tests and controlling type 1 error using a summary statistic based gene test

Reactive Neutrophil Responses Dependent on the Receptor Tyrosine Kinase c-MET Limit Cancer Immunotherapy

Replication analysis of 15 susceptibility loci for nonsyndromic cleft lip with or without cleft palate in an italian population

Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients

Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate

SUMO1 as a candidate gene for non-syndromic cleft lip with or without cleft palate: No evidence for the involvement of common or rare variants in Central European patients

Saliva IgM and IgA are a sensitive indicator of the humoral immune response to Escherichia coli O157 lipopolysaccharide in children with enteropathic hemolytic uremic syndrome

Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

Shiga toxin-producing Escherichia coli infection and antibodies against Stx2 and Stx1 in household contacts of children with enteropathic hemolytic-uremic syndrome

Structure-guided multivalent nanobodies block SARS-CoV-2 infection and suppress mutational escape

Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients

Variation in GRIN2B contributes to weak performance in verbal short-term memory in children with dyslexia.