Lista de obras -

A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.

artículo científico publicado en 2013

A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.

artículo científico publicado en 2009

A genome-wide association study on obesity and obesity-related traits

artículo científico publicado en 2011

A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci

scientific journal article

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

scientific journal article

A genome-wide study reveals copy number variants exclusive to childhood obesity cases

artículo científico publicado en 2010

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

artículo científico publicado en 2011

ATOM: a powerful gene-based association test by combining optimally weighted markers

artículo científico publicado en 2008

Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms

artículo científico publicado en 2008

An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males

artículo científico publicado en 2011

Analysing biological pathways in genome-wide association studies ⬇️

artículo científico publicado el 1 de diciembre de 2010

Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population

artículo científico publicado en 2010

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

artículo científico publicado en 2009

BMD-associated variation at the Osterix locus is correlated with childhood obesity in females

artículo científico publicado en 2011

Common genetic variants on 5p14.1 associate with autism spectrum disorders

artículo científico publicado en 2009

Common variants at five new loci associated with early-onset inflammatory bowel disease

artículo científico publicado en 2009

Common variation contributes to the genetic architecture of social communication traits.

artículo científico publicado en 2013

Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects

artículo científico publicado en 2010

Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals

artículo científico publicado en 2015

Convergent mechanisms of somatic mutations in polycythemia vera.

artículo científico publicado en 2011

Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications

artículo científico publicado en 2011

Copy number variation at 1q21.1 associated with neuroblastoma

artículo científico publicado en 2009

Correction: A Genome-Wide Association Study on Obesity and Obesity-Related Traits.

artículo científico publicado en 2012

Deconvolution of transcriptional networks identifies TCF4 as a master regulator in schizophrenia

scientific article published on 11 September 2019

DeepRepeat: direct quantification of short tandem repeats on signal data from nanopore sequencing

artículo científico publicado en 2022

Detecting differential alternative splicing events in scRNA-seq with or without Unique Molecular Identifiers

scientific article published on 05 June 2020

Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease

artículo científico publicado en 2009

Duplication of the SLIT3 locus on 5q35.1 predisposes to major depressive disorder

artículo científico publicado en 2010

ERRATUM: Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

article by Matthew B. Lanktree et al published June 2012 in American Journal of Human Genetics

Erratum to: Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence.

artículo científico publicado en 2016

Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI.

artículo científico publicado en 2009

Examination of genetic variants influencing lipid traits in pediatric populations.

artículo científico publicado en 2012

Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene.

artículo científico publicado en 2009

Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications

artículo científico publicado en 2011

Expediting knowledge acquisition by a web framework for Knowledge Graph Exploration and Visualization (KGEV): case studies on COVID-19 and Human Phenotype Ontology

artículo científico publicado en 2022

From disease association to risk assessment: an optimistic view from genome-wide association studies on type 1 diabetes.

artículo científico publicado en 2009

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

artículo científico publicado en 2010

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

artículo científico publicado en 2011

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

artículo científico publicado en 2009

Genome-wide association study of multiplex schizophrenia pedigrees.

artículo científico publicado en 2012

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

artículo científico publicado en 2011

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

artículo científico publicado en 2010

Genomic landscape of a three-generation pedigree segregating affective disorder

artículo científico publicado en 2009

Group Lasso Regularized Deep Learning for Cancer Prognosis from Multi-Omics and Clinical Features

scientific article published on 21 March 2019

Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence

artículo científico publicado en 2014

Integrative genomics identifies LMO1 as a neuroblastoma oncogene

artículo científico publicado en 2010

Interpretation of association signals and identification of causal variants from genome-wide association studies

artículo científico publicado en 2010

Investigation of the locus near MC4R with childhood obesity in Americans of European and African ancestry

artículo científico publicado en 2009

Large copy-number variations are enriched in cases with moderate to extreme obesity.

artículo científico publicado en 2010

LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data

scientific article published on 06 December 2019

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

artículo científico publicado en 2013

Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency.

artículo científico publicado en 2011

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

artículo científico publicado en 2010

Modeling genetic inheritance of copy number variations.

artículo científico publicado en 2008

Multiple testing in genome-wide association studies via hidden Markov models

artículo científico publicado en 2009

NanoCaller for accurate detection of SNPs and indels in difficult-to-map regions from long-read sequencing by haplotype-aware deep neural networks

artículo científico publicado en 2021

Pathway-Based Genome-Wide Association Studies for Plasma Triglycerides in Obese Females and Normal-Weight Controls

artículo científico publicado en 2015

Pathway-Based Genome-wide Association Studies Reveal That the Rac1 Pathway Is Associated with Plasma Adiponectin Levels.

artículo científico publicado en 2015

Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation.

artículo científico publicado en 2011

Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases

scientific article published on 25 May 2020

PhenCards: a data resource linking human phenotype information to biomedical knowledge

artículo científico publicado en 2021

Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci.

artículo científico publicado en 2011

Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia

artículo científico publicado en 2010

Ranking causal variants and associated regions in genome-wide association studies by the support vector machine and random forest ⬇️

artículo científico publicado el 11 de febrero de 2011

Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD)

artículo científico publicado en 2019

Strategies for Genetic Studies of Complex Diseases ⬇️

artículo científico publicado el 6 de agosto de 2010

Termviewer – A Web Application for Streamlined Human Phenotype Ontology (HPO) Tagging and Document Annotation

artículo científico publicado en 2022

The Human Phenotype Ontology in 2024: phenotypes around the world

artículo científico publicado en 2023

The landscape of recombination in African Americans

artículo científico publicado en 2011

The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry.

artículo científico publicado en 2013

The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature

artículo científico publicado en 2010

The role of leptin, melanocortin, and neurotrophin system genes on body weight in anorexia nervosa and bulimia nervosa

artículo científico publicado en 2014

The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI

artículo científico publicado en 2009

Ultrafast and scalable variant annotation and prioritization with big functional genomics data

artículo científico publicado en 2020

Using VAAST to Identify an X-linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency.

artículo científico publicado en 2011

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

artículo científico publicado en 2011

Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence

scientific article published on 24 February 2014

Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility

artículo científico publicado en 2016

Variants of DENND1B associated with asthma in children

artículo científico publicado en 2009

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

artículo científico publicado en 2013

Whole-genome sequencing in an autism multiplex family

artículo científico publicado en 2013

Lista de obras de

A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.

A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.

A genome-wide association study on obesity and obesity-related traits

A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci

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

A genome-wide study reveals copy number variants exclusive to childhood obesity cases

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

ATOM: a powerful gene-based association test by combining optimally weighted markers

Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms

An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males

Analysing biological pathways in genome-wide association studies ⬇️

Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

BMD-associated variation at the Osterix locus is correlated with childhood obesity in females

Common genetic variants on 5p14.1 associate with autism spectrum disorders

Common variants at five new loci associated with early-onset inflammatory bowel disease

Common variation contributes to the genetic architecture of social communication traits.

Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects

Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals

Convergent mechanisms of somatic mutations in polycythemia vera.

Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications

Copy number variation at 1q21.1 associated with neuroblastoma

Correction: A Genome-Wide Association Study on Obesity and Obesity-Related Traits.

Deconvolution of transcriptional networks identifies TCF4 as a master regulator in schizophrenia

DeepRepeat: direct quantification of short tandem repeats on signal data from nanopore sequencing

Detecting differential alternative splicing events in scRNA-seq with or without Unique Molecular Identifiers

Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease

Duplication of the SLIT3 locus on 5q35.1 predisposes to major depressive disorder

ERRATUM: Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

Erratum to: Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence.

Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI.

Examination of genetic variants influencing lipid traits in pediatric populations.

Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene.

Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications

Expediting knowledge acquisition by a web framework for Knowledge Graph Exploration and Visualization (KGEV): case studies on COVID-19 and Human Phenotype Ontology

From disease association to risk assessment: an optimistic view from genome-wide association studies on type 1 diabetes.

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

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

Genome-wide association study of multiplex schizophrenia pedigrees.

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

Genomic landscape of a three-generation pedigree segregating affective disorder

Group Lasso Regularized Deep Learning for Cancer Prognosis from Multi-Omics and Clinical Features

Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence

Integrative genomics identifies LMO1 as a neuroblastoma oncogene

Interpretation of association signals and identification of causal variants from genome-wide association studies

Investigation of the locus near MC4R with childhood obesity in Americans of European and African ancestry

Large copy-number variations are enriched in cases with moderate to extreme obesity.

LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency.

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

Modeling genetic inheritance of copy number variations.

Multiple testing in genome-wide association studies via hidden Markov models

NanoCaller for accurate detection of SNPs and indels in difficult-to-map regions from long-read sequencing by haplotype-aware deep neural networks

Pathway-Based Genome-Wide Association Studies for Plasma Triglycerides in Obese Females and Normal-Weight Controls

Pathway-Based Genome-wide Association Studies Reveal That the Rac1 Pathway Is Associated with Plasma Adiponectin Levels.

Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation.

Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases

PhenCards: a data resource linking human phenotype information to biomedical knowledge

Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci.

Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia

Ranking causal variants and associated regions in genome-wide association studies by the support vector machine and random forest ⬇️

Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD)

Strategies for Genetic Studies of Complex Diseases ⬇️

Termviewer – A Web Application for Streamlined Human Phenotype Ontology (HPO) Tagging and Document Annotation

The Human Phenotype Ontology in 2024: phenotypes around the world

The landscape of recombination in African Americans

The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry.

The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature

The role of leptin, melanocortin, and neurotrophin system genes on body weight in anorexia nervosa and bulimia nervosa

The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI

Ultrafast and scalable variant annotation and prioritization with big functional genomics data

Using VAAST to Identify an X-linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency.

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence

Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility

Variants of DENND1B associated with asthma in children