Author

Sebastian Hegert

ORCID: 0009-0000-1616-7540

Observed ORCID: 0009-0000-1616-7540

OpenAlex ID: A5063209310

Newborn screening for aromatic l-amino acid decarboxylase deficiency – Strategies, results, and implication for prevalence calculations

2024 · Anna T. Reischl-Hajiabadi, Jürgen G. Okun, et al. · Molecular Genetics and Metabolism · 10

High Throughput Newborn Screening for Sickle Cell Disease – Application of Two-Tiered Testing with a qPCR-Based Primary screen

2023 · Joachim Janda, Sebastian Hegert, et al. · Klinische Pädiatrie · 8

Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria

2024 · Bernd Hoppe, Cristina Martin-Higueras, et al. · Kidney International Reports · 7

Quality considerations and major pitfalls for high throughput DNA-based newborn screening for severe combined immunodeficiency and spinal muscular atrophy

2024 · Jessica Bzdok, Ludwig Czibere, et al. · PLoS ONE · 3

Clinical management of metachromatic leukodystrophy cases identified in the German and Austrian Newborn screening pilots

2026 · Lucia Laugwitz, Pascal Martin, et al. · Orphanet Journal of Rare Diseases · 1

Additional file 1 of Clinical management of metachromatic leukodystrophy cases identified in the German and Austrian Newborn screening pilots

2026 · Lucia Laugwitz, Pascal Martin, et al. · Figshare

Works count: 6

Citation count: 29

H-index: 3

I10-index: 1