Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience

Consequences of Identifying XIAP Deficiency in an Adult Patient With Inflammatory Bowel Disease

(2018) Maria Quaranta et al.   GASTROENTEROLOGY

Novel NOD2 Mutation in Early-Onset Inflammatory Bowel Phenotype

(2018) Martina Girardelli et al.   INFLAMMATORY BOWEL DISEASES

Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in China

(2018) You-Hong Fang et al.   WORLD JOURNAL OF GASTROENTEROLOGY

Phenotypic Characterization of Very Early-Onset Inflammatory Bowel Disease with Interleukin-10 Signaling Deficiency: Based on a Large Cohort Study

(2018) Cuifang Zheng et al.   INFLAMMATORY BOWEL DISEASES

How genetic testing can lead to targeted management of XIAP deficiency–related inflammatory bowel disease

(2016) Ole Haagen Nielsen et al.   GENETICS IN MEDICINE

A novel genomic inversion in Wiskott-Aldrich–associated autoinflammation

(2016) Immacolata Brigida et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years

(2016) Jochen Kammermeier et al.   Journal of Crohns & Colitis

The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency

(2015) Martina Girardelli et al.   BMC Pediatrics

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

The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease

(2014) Holm H. Uhlig 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 general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

The gastrointestinal manifestations of telomere-mediated disease

(2012) Naudia L. Jonassaint et al.   AGING CELL

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

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

(2012) Katja Christodoulou et al.   GUT

Clinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation

(2012) Karin R. Engelhardt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

(2010) Gregory M Cooper et al.   NATURE METHODS

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

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