Genetic variants in acute, acute recurrent and chronic pancreatitis affect the progression of disease in children

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

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene

David C. Whitcomb, Michael C. Gorry, Robert A. Preston et al. · Nature Genetics · 1996 · 1.6K citations

Medicine, Genetics, Molecular Genetics +12

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

C. Sue Richards, Sherri J. Bale, Daniel B. Bellissimo et al. · Genetics in Medicine · 2008 · 822 citations · Full text

Life Sciences, Bioinformatics, Molecular Genetics +12

Mutations in SBDS are associated with Shwachman–Diamond syndrome

Graeme R.B. Boocock, Jodi Morrison, M. Popović et al. · Nature Genetics · 2002 · 795 citations

Life Sciences, Genetics, Molecular Genetics +7

Definitions of Pediatric Pancreatitis and Survey of Present Clinical Practices

Véronique D. Morinville, Sohail Z. Husain, Harrison X. Bai et al. · Journal of Pediatric Gastroenterology and Nutrition · 2012 · 498 citations · Full text

Medicine, Internal Medicine, Pediatrics +12