Nielsen KB, Sørensen S, Cartegni L
, Corydon TJ, Doktor TK, Schroeder LD, Reinert LS, Elpeleg O, Krainer AR
, Gregersen N, et al. 2007.
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 flanking exonic splicing enhancer.
American Journal of Human Genetics. 80(3):416-432.
https://doi.org/10.1086/511992
Munksgaard PP
, Mansilla F, Brems Eskildsen A-S
, Fristrup N, Birkenkamp-Demtröder K, Ulhøi BP, Borre M, Agerbæk M, Hermann GG
, Orntoft TF, et al. 2011.
Low ANXA10 expression is associated with disease aggressiveness in bladder cancer.
B J C. 105(9):1379-87.
https://doi.org/10.1038/bjc.2011.404
Mosegaard S, Olpin SE, Sharrard MJ, Manning NJ, Boneh A, Ryan K
, Andreasen C, Kjeldsen M, Gregersen N, Olsen R. 2013.
Locus heterogeneity in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Poster session presented at 12th International congress of inborn errors of metabolism, Barcelona, Spain.
Mortensen MR, Skovsgaard MB, Märcher A, Andersen VL, Palmfeldt J, Nielsen TB, Tørring T, Laursen NS, Andersen KR, Kjems J, et al. 2020.
Introduction of an Aldehyde Handle on Nanobodies by Affinity-Guided Labeling.
Bioconjugate Chemistry. 31(5):1295-1300.
https://doi.org/10.1021/acs.bioconjchem.0c00151
Mogensen J, Perrot A, Andersen PS, Havndrup O, Klausen IC, Christiansen M
, Bross P, Egeblad H, Bundgaard H, Osterziel KJ, et al. 2004.
Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy.
J Med. Genet. (41):10-10.
Mogensen J, Perrot A, Andersen PS, Havndrup O, Klausen IC, Christiansen M
, Bross P, Egeblad H, Bundgaard H, Osterziel KJ, et al. 2004.
Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy.
Journal of Medical Genetics. 41(1):e10.
Merinero B, Perez-Cerda C, Ruiz Sala P, Ferrer I, Garcia MJ, Martinez Pardo M, Belanger-Quintana A, de la Mota JL, Martin-Hernandez E, Vianey-Saban C, et al. 2007.
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. J. Inherit. Metab. Dis. 29(5):685.
Maxel T
, Smidt K, Petersen CC, Honoré B, Christensen AK, Jeppesen PB, Brock B, Rungby J, Palmfeldt J, Larsen A. 2019.
The zinc transporter Zip14 (SLC39a14) affects Beta-cell Function: Proteomics, Gene expression, and Insulin secretion studies in INS-1E cells.
Scientific Reports. 9(1):Article 8589.
https://doi.org/10.1038/s41598-019-44954-1
Magen D, Georgopoulos C
, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, et al. 2008.
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. American Journal of Human Genetics. 83(1):30-42.
https://doi.org/10.1016/j.ajhg.2008.05.016
Madsen PP, Kibaek M, Roca X, Sachidanandam R, Krainer AR, Christensen E, Steiner RD, Gibson KM
, Corydon TJ, Knudsen I, et al. 2006.
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
Hum. Genet. 118(30):680-690.
Lund AM, Hougaard DM
, Simonsen H, Andresen BS, Christensen M, Dunø M, Skogstrand K, Olsen RKJ, Jensen UG, Cohen A, et al. 2012.
Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.
Molecular Genetics and Metabolism. 107(3):281-93.
https://doi.org/10.1016/j.ymgme.2012.06.006
Lund A, Wibrand F, Skogstrand K, Cohen A, Christensen M, Jäpelt RB, Dunø M, Skovby F, Nørgaard-Pedersen B
, Gregersen N, et al. 2020.
Danish expanded newborn screening is a successful preventive public health programme.
Danish Medical Journal. 67(1):Article A06190341.
Liu B
, Palmfeldt J, Lin L, Colaço A, Clemmensen KKB, Huang J, Xu F, Liu X, Maeda K
, Luo Y, et al. 2018.
STAT3 associates with vacuolar H+-ATPase and regulates cytosolic and lysosomal pH.
Cell Research. 28(10):996–1012.
https://doi.org/10.1038/s41422-018-0080-0