Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

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

(2018) Lee A. Denson et al.   GASTROENTEROLOGY

Analysis of Genes Associated With Monogenic Primary Immunodeficiency Identifies Rare Variants in XIAP in Patients With Crohn’s Disease

(2018) Leila Amininejad et al.   GASTROENTEROLOGY

Inherited p40phox deficiency differs from classic chronic granulomatous disease

(2018) Annemarie van de Geer et al.   JOURNAL OF CLINICAL INVESTIGATION

Autophagy-Dependent Generation of Free Fatty Acids Is Critical for Normal Neutrophil Differentiation

(2017) Thomas Riffelmacher et al.   IMMUNITY

Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7

(2017) Yang Luo et al.   NATURE GENETICS

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease

(2017) Katrina M de Lange et al.   NATURE GENETICS

Clinical Genomics in Inflammatory Bowel Disease

(2017) Holm H. Uhlig et al.   TRENDS IN GENETICS

Mechanisms of Pediatric Inflammatory Bowel Disease

(2016) Joanna M. Peloquin et al.   Annual Review of Immunology

Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes

(2016) Kashyap A. Patel et al.   DIABETES

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

(2016) Tobias Schwerd et al.   GUT

Genetic Risk for Inflammatory Bowel Disease Is a Determinant of Crohnʼs Disease Development in Chronic Granulomatous Disease

(2016) Chengrui Huang et al.   INFLAMMATORY BOWEL DISEASES

Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan

(2016) Shintaro Ono et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Guided, internet-based, rumination-focused cognitive behavioural therapy (i-RFCBT) versus a no-intervention control to prevent depression in high-ruminating young adults, along with an adjunct assessment of the feasibility of unguided i-RFCBT, in the REducing Stress and Preventing Depression trial (RESPOND): study protocol for a phase III randomised controlled trial

(2016) Lorna Cook et al.   Trials

Exome Sequencing Analysis Reveals Variants in Primary Immunodeficiency Genes in Patients With Very Early Onset Inflammatory Bowel Disease

(2015) Judith R. Kelsen et al.   GASTROENTEROLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

(2015) Jimmy Z Liu et al.   NATURE GENETICS

Differential Effect of Genetic Burden on Disease Phenotypes in Crohn's Disease and Ulcerative Colitis: Analysis of a North American Cohort

(2014) Ashwin N Ananthakrishnan et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Effective filtering strategies to improve data quality from population-based whole exome sequencing studies

(2014) Andrew R Carson et al.   BMC BIOINFORMATICS

A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency

(2014) S. Ammann et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Clinical Flow Cytometric Screening of SAP and XIAP Expression Accurately Identifies Patients withSH2D1AandXIAP/BIRC4Mutations

(2014) Carrie E. Gifford et al.   CYTOMETRY PART B-CLINICAL CYTOMETRY

Variants in Nicotinamide Adenine Dinucleotide Phosphate Oxidase Complex Components Determine Susceptibility to Very Early Onset Inflammatory Bowel Disease

(2014) Sandeep S. Dhillon et al.   GASTROENTEROLOGY

The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease

(2014) Holm H. Uhlig et al.   GASTROENTEROLOGY

Mutations in Tetratricopeptide Repeat Domain 7A Result in a Severe Form of Very Early Onset Inflammatory Bowel Disease

(2014) Yaron Avitzur et al.   GASTROENTEROLOGY

Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis

(2014) Jochen Kammermeier et al.   JOURNAL OF MEDICAL GENETICS

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

(2014) Andy Rimmer et al.   NATURE GENETICS

A General Approach for Haplotype Phasing across the Full Spectrum of Relatedness

(2014) Jared O'Connell et al.   PLoS Genetics

Molecular diagnosis of chronic granulomatous disease

(2013) D. Roos et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing

(2013) Darrell L. Dinwiddie et al.   GENOMICS

Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease

(2013) Holm H Uhlig   GUT

Clinical Manifestations of Disease in X-Linked Carriers of Chronic Granulomatous Disease

(2013) A. C. Battersby et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

(2013) Philippa J Talmud et al.   LANCET

Somatic mosaicism in two unrelated patients with X-linked chronic granulomatous disease characterized by the presence of a small population of normal cells

(2012) Masafumi Yamada et al.   GENE

Fast gapped-read alignment with Bowtie 2

(2012) Ben Langmead et al.   NATURE METHODS

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A Paradigm of Immunodeficiency with Autoimmunity

(2012) Federica Barzaghi et al.   Frontiers in Immunology

Epidemiology and Natural History of Inflammatory Bowel Diseases

(2011) Jacques Cosnes et al.   GASTROENTEROLOGY

Increasing Incidence and Prevalence of the Inflammatory Bowel Diseases With Time, Based on Systematic Review

(2011) Natalie A. Molodecky et al.   GASTROENTEROLOGY

Genetics and pathogenesis of inflammatory bowel disease

(2011) Bernard Khor et al.   NATURE

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

(2010) C. Booth et al.   BLOOD

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey et al.   GENETICS IN MEDICINE

Epidemiology of pediatric inflammatory bowel disease: A systematic review of international trends

(2010) Eric I. Benchimol et al.   INFLAMMATORY BOWEL DISEASES

Pediatric modification of the Montreal classification for inflammatory bowel disease

(2010) Arie Levine et al.   INFLAMMATORY BOWEL DISEASES

Infant colitis—it's in the genes

(2010) Erik-Oliver Glocker et al.   LANCET

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

(2010) Andre Franke et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Data quality control in genetic case-control association studies

(2010) Carl A Anderson et al.   Nature Protocols

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

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

(2009) Marcin Imielinski et al.   NATURE GENETICS

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease

(2008) Subra Kugathasan et al.   NATURE GENETICS