| Second-tier next generation sequencing integrated in nationwide newborn screening provides rapid molecular diagnostics of severe combined immunodeficiency J Strand, KA Gul, HC Erichsen, E Lundman, MC Berge, AK Trømborg, ... Frontiers in immunology 11, 1417, 2020 | 53 | 2020 |
| Performance of expanded newborn screening in Norway supported by post-analytical bioinformatics tools and rapid second-tier DNA analyses T Tangeraas, I Sæves, C Klingenberg, J Jørgensen, E Kristensen, ... International journal of neonatal screening 6 (3), 51, 2020 | 42 | 2020 |
| Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years E Lundman, HJ Gaup, E Bakkeheim, EJ Olafsdottir, T Rootwelt, ... Journal of Cystic Fibrosis 15 (3), 318-324, 2016 | 35 | 2016 |
| European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance A Munck, DO Berger, KW Southern, C Carducci, KM de Winter-de Groot, ... Journal of Cystic Fibrosis 22 (3), 484-495, 2023 | 19 | 2023 |
| Reliability of neonatal screening results M Knapkova, K Hall, G Loeber International journal of neonatal screening 4 (3), 28, 2018 | 18 | 2018 |
| A nationwide study of GATA2 deficiency in Norway—the majority of patients have undergone allo-HSCT SF Jørgensen, J Buechner, AE Myhre, E Galteland, S Spetalen, ... Journal of Clinical Immunology 42 (2), 404-420, 2022 | 12 | 2022 |
| 17 Infants diagnosed clinically after false negative cystic fibrosis newborn screening may present with Pseudo-Bartter's-syndrome AC Gjerstad, E Bakkeheim, K Handeland, E Lundman, RD Pettersen, ... Journal of Cystic Fibrosis 14, S60, 2015 | 2 | 2015 |
| Newborn genetic screening—Still a role for Sanger sequencing in the era of NGS S Hogner, E Lundman, J Strand, ME Ytre-Arne, T Tangeraas, ... International Journal of Neonatal Screening 9 (4), 67, 2023 | 1 | 2023 |
| P003 Clinical variability of the CFTR variant p. Arg117Cys uncovered by newborn screening for cystic fibrosis. Does the genetic background matter? E Lundman, S Hogner, M Ytre-Arne, J Strand, M Engan, ACS Wathne, ... Journal of Cystic Fibrosis 22, S64, 2023 | | 2023 |
| TWO YEARS OF NEWBORN SCREENING FOR CF IN NORWAY E Bakkeheim, E Lundman, E Olafsdottir, J Gaup, S Watle, R Pettersen, ... PEDIATRIC PULMONOLOGY 49, 382-382, 2014 | | 2014 |
| WS11. 5 Newborn screening for cystic fibrosis in Norway E Lundman, HJ Gaup, AM Bjørnæs, OT Storrøsten, T Rootwelt, ... Journal of Cystic Fibrosis, S24, 2014 | | 2014 |
| 11 Disease related CFTR variants found in the Norwegian screening program HJ Gaup, E Lundman, AM Bjørnæs, OT Storrøsten, T Rootwelt, ... Journal of Cystic Fibrosis, S47, 2014 | | 2014 |
| 27 Infants with an equivocal diagnosis at the Oslo CF centre following newborn screening for CF in Norway E Bakkeheim, OT Storrøsten, E Lundman, HJ Gaup, RD Pettersen Journal of Cystic Fibrosis, S51, 2014 | | 2014 |
