Viktor Kožich

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

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

Helena Poupětová, J. Ledvinová, Linda Berná et al. · Journal of Inherited Metabolic Disease · 2010 · 216 citations · Full text

Life Sciences, Pathology, Neurobiology Of Disease +9

The Human Cystathionine β-Synthase (CBS) Gene: Complete Sequence, Alternative Splicing, and Polymorphisms

Jan P. Kraus, Jana Oliveriusová, Jitka Sokolová et al. · Genomics · 1998 · 126 citations

Life Sciences, Genetics, Molecular Genetics +7

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)

Mireille Claustres, Viktor Kožich, Brain Fowler et al. · European Journal of Human Genetics · 2013 · 125 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15