Agnieszka Sobczyńska‐Tomaszewska

Variants in CPA1 are strongly associated with early onset chronic pancreatitis

Heiko Witt, Sebastian Beer, Jonas Rosendahl et al. · Nature Genetics · 2013 · 302 citations · Full text

Medicine, Internal Medicine, Pathology +7

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Joshua D. Groman, Timothy Hefferon, Teresa Casals et al. · The American Journal of Human Genetics · 2004 · 251 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Analysis of <i>CFTR</i>, <i>SPINK1</i>, <i>PRSS1</i> and <i>AAT</i> Mutations in Children With Acute or Chronic Pancreatitis

Agnieszka Sobczyńska‐Tomaszewska, Daniel Bąk, Beata Oralewska et al. · Journal of Pediatric Gastroenterology and Nutrition · 2006 · 74 citations

Medicine, Genetics, Pediatrics +13

Analysis of exocrine pancreatic function in cystic fibrosis: one mild CFTR mutation does not exclude pancreatic insufficiency

Jarosław Walkowiak, Karl‐Heinz Herzig, Michał Witt et al. · European Journal of Clinical Investigation · 2001 · 53 citations

Medicine, Genetics, Pediatrics +17

Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

Agnieszka Sobczyńska‐Tomaszewska, Mariusz Ołtarzewski, Kamila Czerska et al. · European Journal of Human Genetics · 2012 · 51 citations · Full text

Medicine, Molecular Genetics, Pediatrics +16