Understanding endoscopic and clinicopathological features of patients with very early onset inflammatory bowel disease: Results from a decade of study

Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition

(2023) Jochen Kammermeier et al.   Lancet Gastroenterology & Hepatology

Clinical outcome of infantile‐onset inflammatory bowel disease in 102 patients with interleukin‐10 signalling deficiency

(2022) Ziqing Ye et al.   ALIMENTARY PHARMACOLOGY & THERAPEUTICS

Twenty-first Century Trends in the Global Epidemiology of Pediatric-Onset Inflammatory Bowel Disease: Systematic Review

(2022) M. Ellen Kuenzig et al.   GASTROENTEROLOGY

Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease

(2022) Lauren V Collen et al.   Journal of Crohns & Colitis

Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

(2021) Lin Wang et al.   NATURE GENETICS

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

(2021) Claire G Salter et al.   BRAIN

A Pattern-based Pathology Approach to Very Early-onset Inflammatory Bowel Disease: Thinking Beyond Crohn Disease and Ulcerative Colitis

(2021) Benjamin J. Wilkins et al.   ADVANCES IN ANATOMIC PATHOLOGY

Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated with Monogenic Variants, Identified by Whole-exome Sequencing in 1000 Children at a Single Center

(2020) Eileen Crowley et al.   GASTROENTEROLOGY

Excellent Outcomes Following Hematopoietic Cell Transplantation for Wiskott-Aldrich Syndrome: A PIDTC Report

(2020) Lauri Burroughs et al.   BLOOD

Clinical Genomics for the Diagnosis of Monogenic forms of Inflammatory Bowel Disease

(2020) Holm H. Uhlig et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Histologic Healing Rates of Medical Therapies for Ulcerative Colitis

(2019) Robert Battat et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease

(2019) Thomas Magg et al.   INFLAMMATORY BOWEL DISEASES

Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation

(2019) Chrissy Bolton et al.   Journal of Crohns & Colitis

Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Diseases Caused by TTC7A Deficiency

(2019) Sasha Jardine et al.   GASTROENTEROLOGY

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

(2018) Maria Quaranta et al.   GASTROENTEROLOGY

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study

(2018) Fabienne Charbit-Henrion et al.   Journal of Crohns & Colitis

Distinct histopathological features at diagnosis of very early onset inflammatory bowel disease

(2018) Máire A Conrad et al.   Journal of Crohns & Colitis

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

(2017) Britt-Sabina Petersen et al.   INFLAMMATORY BOWEL DISEASES

Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease

(2017) Zhiheng Huang et al.   INFLAMMATORY BOWEL DISEASES

Phenotype and Management of Infantile-onset Inflammatory Bowel Disease

(2017) Ziqing Ye et al.   INFLAMMATORY BOWEL DISEASES

Clinical Genomics in Inflammatory Bowel Disease

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

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

The ESPGHAN Revised Porto Criteria for the Diagnosis of Inflammatory Bowel Disease in Children and Adolescents

(2013) Arie Levine et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION