Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis.
Khan E et al.
Global Medical Genetics, 2023
Expanding ACMG variant classification guidelines into a general framework.
Masson E et al.
Human Genomics, 2022
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis.
Zou WB et al.
Human Genetics, 2022
Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.
Girodon E et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2020
In vitro and in silico evidence against a significant effect of the SPINK1 c.194G>A variant on pre-mRNA splicing.
Wu H et al.
Gut, 2017
Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay.
Wu H et al.
Genes, 2017
Hereditary pancreatitis: current perspectives.
Raphael KL et al.
Clinical and Experimental Gastroenterology, 2016
Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.
LaRusch J et al.
Plos Genetics, 2014
Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred.
LaRusch J et al.
Jop : Journal of the Pancreas, 2012
Assessing the pathological relevance of SPINK1 promoter variants.
Boulling A et al.
European Journal of Human Genetics : Ejhg, 2011
Phenotypic variability of the homozygous IVS3+2T>C mutation in the serine protease inhibitor Kazal type 1 (SPINK1) gene in patients with chronic pancreatitis.
Ota Y et al.
The Tohoku Journal of Experimental Medicine, 2010
Genetic factors in chronic pancreatitis; implications for diagnosis, management and prognosis.
Derikx MH et al.
Best Practice & Research. Clinical Gastroenterology, 2010
Genetics of pancreatitis: a guide for clinicians.
Witt H
Digestive Diseases (basel, Switzerland), 2010
Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis.
Kereszturi E et al.
Gut, 2009
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
Boulling A et al.
European Journal of Human Genetics : Ejhg, 2007
Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.
Király O et al.
Human Mutation, 2007
Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
Masson E et al.
European Journal of Human Genetics : Ejhg, 2006
Association of rare SPINK1 gene mutation with another base substitution in chronic pancreatitis patients.
Kalinin VN et al.
World Journal of Gastroenterology, 2006
Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.
Le Maréchal C et al.
Human Mutation, 2004