| Clear correlation of genotype with disease phenotype in very–long-chain Acyl-CoA dehydrogenase deficiency BS Andresen, S Olpin, BJHM Poorthuis, HR Scholte, C Vianey-Saban, ... The American Journal of Human Genetics 64 (2), 479-494, 1999 | 349 | 1999 |
| ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency RKJ Olsen, SE Olpin, BS Andresen, ZH Miedzybrodzka, M Pourfarzam, ... Brain 130 (8), 2045-2054, 2007 | 346 | 2007 |
| Protein misfolding and degradation in genetic diseases P Bross, TJ Corydon, BS Andresen, MM Jørgensen, L Bolund, ... Human mutation 14 (3), 186-198, 1999 | 308 | 1999 |
| Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms … BS Andresen, SF Dobrowolski, L O'Reilly, J Muenzer, SE McCandless, ... The American Journal of Human Genetics 68 (6), 1408-1418, 2001 | 273 | 2001 |
| Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl‐CoA dehydrogenation deficiency RKJ Olsen, BS Andresen, E Christensen, P Bross, F Skovby, N Gregersen Human mutation 22 (1), 12-23, 2003 | 252 | 2003 |
| Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl‐CoA dehydrogenase deficiencies, with special focus on genotype–phenotype relationship N Gregersen, BS Andresen, MJ Corydon, TJ Corydon, RKJ Olsen, ... Human mutation 18 (3), 169-189, 2001 | 221 | 2001 |
| CUGBP1 and MBNL1 preferentially bind to 3′ UTRs and facilitate mRNA decay A Masuda, HS Andersen, TK Doktor, T Okamoto, M Ito, BS Andresen, ... Scientific reports 2 (1), 209, 2012 | 216 | 2012 |
| Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans C Heintz, TK Doktor, A Lanjuin, CC Escoubas, Y Zhang, HJ Weir, S Dutta, ... Nature 541 (7635), 102-106, 2017 | 180 | 2017 |
| Mitochondrial fatty acid oxidation defects—remaining challenges N Gregersen, BS Andresen, CB Pedersen, RKJ Olsen, TJ Corydon, ... Journal of inherited metabolic disease 31 (5), 643-657, 2008 | 165 | 2008 |
| The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? BS Andresen, P Bross, S Udvari, J Kirk, G Gray, S Kmoch, N Chamoles, ... Human molecular genetics 6 (5), 695-707, 1997 | 158 | 1997 |
| Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a … KB Nielsen, S Sørensen, L Cartegni, TJ Corydon, TK Doktor, ... The American Journal of Human Genetics 80 (3), 416-432, 2007 | 153 | 2007 |
| Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C→ T, is present at an unexpectedly … N Gregersen, VS Winter, MJ Corydon, TJ Corydon, P Rinaldo, A Ribes, ... Human molecular genetics 7 (4), 619-627, 1998 | 143 | 1998 |
| Identification of potential hot spots in the carboxy-terminal part of the Epstein-Barr virus (EBV) BNLF-1 gene in both malignant and benign EBV-associated diseases: high … K Sandvej, SC Peh, BS Andresen, G Pallesen | 139 | 1994 |
| Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different … BS Andresen, P Bross, C Vianey-Saban, P Divry, MT Zabot, CR Roe, ... Human molecular genetics 5 (4), 461-472, 1996 | 134 | 1996 |
| Sequence analysis of the Epstein-Barr virus (EBV) latent membrane protein-1 gene and promoter region: identification of four variants among wild-type EBV isolates K Sandvej, JW Gratama, M Munch, XG Zhou, RLH Bolhuis, ... Blood, The Journal of the American Society of Hematology 90 (1), 323-330, 1997 | 124 | 1997 |
| Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase MJ Corydon, N Gregersen, W Lehnert, A Ribes, P Rinaldo, S Kmoch, ... Pediatric research 39 (6), 1059-1066, 1996 | 121 | 1996 |
| The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to … CB Pedersen, S Kølvraa, A Kølvraa, V Stenbroen, M Kjeldsen, ... Human genetics 124, 43-56, 2008 | 120 | 2008 |
| Medium-chain acyl-CoA dehydrogenase deficiency: genotype–biochemical phenotype correlations L Waddell, V Wiley, K Carpenter, B Bennetts, L Angel, BS Andresen, ... Molecular genetics and metabolism 87 (1), 32-39, 2006 | 118 | 2006 |
| Internalization, lysosomal degradation and new synthesis of surface membrane CD4 in phorbol ester-activated T-lymphocytes and U-937 cells CM Petersen, EI Christensen, BS Andresen, BK Møller Experimental cell research 201 (1), 160-173, 1992 | 116 | 1992 |
| VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis A Boneh, BS Andresen, N Gregersen, M Ibrahim, N Tzanakos, H Peters, ... Molecular genetics and metabolism 88 (2), 166-170, 2006 | 113 | 2006 |
