Daša Perko

Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients

Daša Perko, Maruša Debeljak, Nataša Toplak et al. · Mediators of Inflammation · 2015 · 69 citations · Full text

Next generation sequencing as a follow-up test in an expanded newborn screening programme

Andraž Šmon, Barbka Repič Lampret, Urh Grošelj et al. · Clinical Biochemistry · 2017 · 64 citations

Neonatology, Genetics, Genetic Epidemiology +17

Expanded newborn screening program in Slovenia using tandem mass spectrometry and confirmatory next generation sequencing genetic testing

Barbka Repič Lampret, Žiga Iztok Remec, Ana Drole Torkar et al. · Slovenian Journal of Public Health · 2020 · 39 citations · Full text

PIK3AP1 and SPON2 Genes Are Differentially Methylated in Patients With Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) Syndrome

Ema Lovšin, Jernej Kovač, Tine Tesovnik et al. · Frontiers in Immunology · 2020 · 15 citations · Full text

Disease Etiology, Genetics, Dna Methylation +18

Comparison of Tandem Mass Spectrometry and the Fluorometric Method—Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria

Daša Perko, Urh Grošelj, Vanja Čuk et al. · International Journal of Molecular Sciences · 2023 · 13 citations · Full text