Lisbeth Dahl Schroeder

Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency

Brage Storstein Andresen, S. E. Olpin, Ben J. H. M. Poorthuis et al. · The American Journal of Human Genetics · 1999 · 302 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Karsten Nielsen, Suzette Sørensen, Luca Cartegni et al. · The American Journal of Human Genetics · 2007 · 149 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and Evidence for Distinct Acyl-CoA Dehydrogenases in Isoleucine And Valine Metabolism

Brage Storstein Andresen, Ernst Christensen, Thomas J. Corydon et al. · The American Journal of Human Genetics · 2000 · 82 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15

The deep intronic c.903+469T&gt;C mutation in the <i>MTRR</i> gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria

Katerina Homolova, Petra Zavadáková, Thomas Koed Doktor et al. · Human Mutation · 2010 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3′ splice site

Thomas Koed Doktor, Lisbeth Dahl Schroeder, Anne Vested et al. · Human Mutation · 2010 · 44 citations

Life Sciences, Genetics, Molecular Biology +15