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
Laurberg JR, Brems-Eskildsen AS
, Nordentoft I, Fristrup N, Schepeler T, Ulhøi BP, Agerbaek M, Hartmann A, Bertz S, Wittlinger M, et al. 2012.
Expression of TIP60 (tat-interactive protein) and MRE11 (meiotic recombination 11 homolog) predict treatment-specific outcome of localised invasive bladder cancer.
B J U International (Online).
https://doi.org/10.1111/j.1464-410X.2012.11564.x