Mariusz Ołtarzewski

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana et al. · The American Journal of Human Genetics · 2020 · 380 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 352 citations · Full text

Medicine, Biochemistry, Mass Spectrometric Analysis +16

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

J.G. Loeber, Dimitris Platis, Rolf Zetterström et al. · International Journal of Neonatal Screening · 2021 · 234 citations · Full text

Medicine, Biomedical Sciences, Early Detection +16

Identification of infants with increased type 1 diabetes genetic risk for enrollment into Primary Prevention Trials—GPPAD‐02 study design and first results

Christiane Winkler, Florian Haupt, Martin Heigermoser et al. · Pediatric Diabetes · 2019 · 58 citations · Full text

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