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Publications

Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia

Kiparissi F. et al, (2023), Human Genetics

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

Kammermeier J. et al, (2023), The Lancet Gastroenterology & Hepatology

A conserved population of MHC II-restricted, innate-like, commensal-reactive T cells in the gut of humans and mice.

Hackstein C-P. et al, (2022), Nat Commun, 13

Biallelic TLR4 deficiency in humans

CAPITANI M. et al, (2022), https://www.jacionline.org/article/S0091-6749(22)01373-2/fulltext

Biallelic TLR4 deficiency in humans

CAPITANI M. et al, (2022), Journal of Allergy and Clinical Immunology

Human MD2 deficiency – an inborn error of immunity with pleiotropic features

Li Y. et al, (2022)

Human MD2 deficiency-an inborn error of immunity with pleiotropic features.

Li Y. et al, (2022), J Allergy Clin Immunol

Pathogenic Interleukin-10 Receptor Alpha Variants in Humans — Balancing Natural Selection and Clinical Implications

Aschenbrenner D. et al, (2022), Journal of Clinical Immunology

Incidence, management and outcomes of very early onset inflammatory bowel diseases and infantile-onset disease: an epi-IIRN study.

Atia O. et al, (2022), Clin Gastroenterol Hepatol

Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism.

Cavounidis A. et al, (2022), Mucosal Immunol

NOX1 is essential for TNFα-induced intestinal epithelial ROS secretion and inhibits M cell signatures

Hsu N-Y. et al, (2022), Gut

Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility.

Sazonovs A. et al, (2022), Nat Genet

Chromosomal numeric aberrations and rare copy number variation in patients with inflammatory bowel disease.

Dirvanskyte P. et al, (2022), J Crohns Colitis

The Childhood Acute Illness and Nutrition (CHAIN) network nested case-cohort study protocol: a multi-omics approach to understanding mortality among children in sub-Saharan Africa and South Asia

Njunge JM. et al, (2022), Gates Open Research, 6, 77 - 77

Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice.

Azabdaftari A. et al, (2022), Hum Genet

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

Serra EG. et al, (2022), Nat Commun, 13

A method for the inference of cytokine interaction networks.

Jansen JE. et al, (2022), PLoS Comput Biol, 18

An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease (vol 162, pg 859, 2022)

Bolton C. et al, (2022), GASTROENTEROLOGY, 162, 2143 - 2143

UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.

Duclaux-Loras R. et al, (2022), J Clin Invest, 132

Cessation of exclusive breastfeeding and seasonality, but not small intestinal bacterial overgrowth, are associated with environmental enteric dysfunction: A birth cohort study amongst infants in rural Kenya.

Crane RJ. et al, (2022), EClinicalMedicine, 47

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