Lista de obras -

A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia

artículo científico publicado en 2015

Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects

artículo científico publicado en 2017

Applying rapid genome sequencing technologies to characterize pathogen genomes

artículo científico publicado en 2008

Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype

artículo científico publicado en 2010

Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale

artículo científico publicado en 2018

Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans

artículo científico publicado en 2015

Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients with Crohn's Disease

artículo científico publicado en 2018

Combining microarray-based genomic selection (MGS) with the Illumina Genome Analyzer platform to sequence diploid target regions

artículo científico publicado en 2009

Common NOD2 risk variants in African Americans with Crohn's disease are due exclusively to recent Caucasian admixture

artículo científico publicado en 2012

Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects.

artículo científico publicado en 2014

Discrepancies in dbSNP confirmation rates and allele frequency distributions from varying genotyping error rates and patterns

artículo científico publicado en 2004

Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder

artículo científico publicado en 2012

Dissecting Allele Architecture of Early Onset IBD Using High-Density Genotyping

artículo científico publicado en 2015

Dysbiosis, inflammation, and response to treatment: a longitudinal study of pediatric subjects with newly diagnosed inflammatory bowel disease

artículo científico publicado en 2016

Empirical evaluation of oligonucleotide probe selection for DNA microarrays

artículo científico publicado en 2010

Enhanced Contribution of HLA in Pediatric Onset Ulcerative Colitis.

artículo científico publicado en 2018

Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder ⬇️

artículo científico publicado el 5 de julio de 2012

Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease

artículo científico publicado en 2014

Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease

scientific article published on 01 February 2019

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

artículo científico publicado en 2020

Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort.

artículo científico publicado en 2018

Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel Disease.

artículo científico publicado en 2016

Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.

artículo científico publicado en 2015

Haplotype inference in random population samples.

artículo científico publicado en 2002

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males ⬇️

artículo científico publicado el 1 de octubre de 2010

Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder

artículo científico publicado en 2012

Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome

artículo científico publicado en 2020

Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation

artículo científico publicado en 2021

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

scientific article published on 23 January 2020

Metabolic Pathway Analysis and Effectiveness of Tamoxifen in Danish Breast Cancer Patients

artículo científico publicado en 2020

Microarray oligonucleotide probe designer (MOPeD): A web service

artículo científico publicado en 2010

Microarray-based genomic selection for high-throughput resequencing

artículo científico publicado en 2007

Microarray-based mutation detection in the dystrophin gene

artículo científico publicado en 2008

Multiplex Chromosomal Exome Sequencing Accelerates Identification of ENU-Induced Mutations in the Mouse.

artículo científico publicado en 2012

Neutrophil GM-CSF signaling in inflammatory bowel disease patients is influenced by non-coding genetic variants

scientific article published on 24 June 2019

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

article

PEMapper and PECaller provide a simplified approach to whole-genome sequencing

artículo científico publicado en 2017

Reply to Plüss et al.: The strength of PEMapper/PECaller lies in unbiased calling using large sample sizes

artículo científico publicado en 2017

SeqAnt: a web service to rapidly identify and annotate DNA sequence variations

artículo científico publicado en 2010

Structure and complexity of a bacterial transcriptome.

artículo científico publicado en 2009

Susceptibility to childhood onset rheumatoid arthritis: investigation of a weighted genetic risk score that integrates cumulative effects of five genetic risk variants

artículo científico publicado en 2012

Susceptibility to childhood-onset rheumatoid arthritis: investigation of a weighted genetic risk score that integrates cumulative effects of variants at five genetic loci

artículo científico publicado en 2013

Synaptic, transcriptional and chromatin genes disrupted in autism

artículo científico publicado en 2014

Targeted sequencing of the human X chromosome exome.

artículo científico publicado en 2011

Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes

artículo científico publicado en 2014

Lista de obras de

A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia

Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects

Applying rapid genome sequencing technologies to characterize pathogen genomes

Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype

Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale

Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans

Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients with Crohn's Disease

Combining microarray-based genomic selection (MGS) with the Illumina Genome Analyzer platform to sequence diploid target regions

Common NOD2 risk variants in African Americans with Crohn's disease are due exclusively to recent Caucasian admixture

Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects.

Discrepancies in dbSNP confirmation rates and allele frequency distributions from varying genotyping error rates and patterns

Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder

Dissecting Allele Architecture of Early Onset IBD Using High-Density Genotyping

Dysbiosis, inflammation, and response to treatment: a longitudinal study of pediatric subjects with newly diagnosed inflammatory bowel disease

Empirical evaluation of oligonucleotide probe selection for DNA microarrays

Enhanced Contribution of HLA in Pediatric Onset Ulcerative Colitis.

Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder ⬇️

Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease

Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort.

Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel Disease.

Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.

Haplotype inference in random population samples.

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males ⬇️

Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder

Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome

Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Metabolic Pathway Analysis and Effectiveness of Tamoxifen in Danish Breast Cancer Patients

Microarray oligonucleotide probe designer (MOPeD): A web service

Microarray-based genomic selection for high-throughput resequencing

Microarray-based mutation detection in the dystrophin gene

Multiplex Chromosomal Exome Sequencing Accelerates Identification of ENU-Induced Mutations in the Mouse.

Neutrophil GM-CSF signaling in inflammatory bowel disease patients is influenced by non-coding genetic variants

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

PEMapper and PECaller provide a simplified approach to whole-genome sequencing

Reply to Plüss et al.: The strength of PEMapper/PECaller lies in unbiased calling using large sample sizes

SeqAnt: a web service to rapidly identify and annotate DNA sequence variations

Structure and complexity of a bacterial transcriptome.

Susceptibility to childhood onset rheumatoid arthritis: investigation of a weighted genetic risk score that integrates cumulative effects of five genetic risk variants

Susceptibility to childhood-onset rheumatoid arthritis: investigation of a weighted genetic risk score that integrates cumulative effects of variants at five genetic loci

Synaptic, transcriptional and chromatin genes disrupted in autism

Targeted sequencing of the human X chromosome exome.

Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes