Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing

Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease

(2016) Qi Li et al.   GASTROENTEROLOGY

Presenting phenotype of paediatric inflammatory bowel disease in Wessex, Southern England 2010-2013

(2015) JJ Ashton et al.   ACTA PAEDIATRICA

A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report

(2015) Judith R. Kelsen et al.   BMC GASTROENTEROLOGY

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

Genetics of inflammatory bowel disease from multifactorial to monogenic forms

(2015) Anna Monica Bianco   WORLD JOURNAL OF GASTROENTEROLOGY

Rising incidence of paediatric inflammatory bowel disease (PIBD) in Wessex, Southern England

(2014) J. J. Ashton et al.   ARCHIVES OF DISEASE IN CHILDHOOD

The Treatment-Naive Microbiome in New-Onset Crohn’s Disease

(2014) Dirk Gevers et al.   Cell Host & Microbe

The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease

(2014) Holm H. Uhlig et al.   GASTROENTEROLOGY

XIAP variants in male Crohn's disease

(2014) Yvonne Zeissig et al.   GUT

Characterization of Crohn disease in X-linked inhibitor of apoptosis–deficient male patients and female symptomatic carriers

(2014) Claire Aguilar et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

Intractable Diarrhea of Infancy

(2014) Hayriye Hizarcioglu-Gulsen et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Successful treatment of idiopathic colitis related to XIAP deficiency with allo-HSCT using reduced-intensity conditioning

(2014) Yusuke Tsuma et al.   PEDIATRIC TRANSPLANTATION

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

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

A SNP profiling panel for sample tracking in whole-exome sequencing studies

(2013) Reuben J Pengelly et al.   Genome Medicine

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

(2012) Alexandre Fabre et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease

(2012) H Mao et al.   GENES AND IMMUNITY

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes

(2012) Katja Christodoulou et al.   GUT

Detecting false-positive signals in exome sequencing

(2012) Karin V. Fuentes Fajardo et al.   HUMAN MUTATION

Crohn's disease

(2012) Daniel C Baumgart et al.   LANCET

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Familial Diarrhea Syndrome Caused by an ActivatingGUCY2CMutation

(2012) Torunn Fiskerstrand et al.   NEW ENGLAND JOURNAL OF MEDICINE

Novel and Recurrent FERMT1 Gene Mutations in Kindler Syndrome

(2011) JA McGrath et al.   ACTA DERMATO-VENEREOLOGICA

Rising incidence of pediatric inflammatory bowel disease in Scotland*

(2011) Paul Henderson et al.   INFLAMMATORY BOWEL DISEASES

Inflammatory Skin and Bowel Disease Linked toADAM17Deletion

(2011) Diana C. Blaydon et al.   NEW ENGLAND JOURNAL OF MEDICINE

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

(2010) J. P. Schmid et al.   BLOOD

Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update)

(2010) Dirk Roos et al.   BLOOD CELLS MOLECULES AND DISEASES

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Loss-of-Function FERMT1 Mutations in Kindler Syndrome Implicate a Role for Fermitin Family Homolog-1 in Integrin Activation

(2009) Joey E. Lai-Cheong et al.   AMERICAN JOURNAL OF PATHOLOGY

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Pathogenesis and treatment of gastrointestinal disease in antibody deficiency syndromes

(2009) Shradha Agarwal et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

Gastrointestinal complications of epidermolysis bullosa in children

(2008) E.B. Freeman et al.   BRITISH JOURNAL OF DERMATOLOGY

Tricho-hepato-enteric syndrome presenting with mild colitis

(2008) Odul Egritas et al.   EUROPEAN JOURNAL OF PEDIATRICS

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

(2008) Ningning Dang et al.   EXPERIMENTAL DERMATOLOGY

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

(2008) Subra Kugathasan et al.   NATURE GENETICS