B. Andresen

发表

DeepCLIP: predicting the effect of mutations on protein–RNA binding with deep learning

Alexander G. B. Grønning, J. Baumbach, T. K. Doktor, 2019, bioRxiv.

Down-Regulation of CK2α Leads toUp-Regulation of the Cyclin-Dependent Kinase Inhibitor p27KIP1 in Conditions Unfavorable for the Growth of Myoblast Cells.

B. Andresen, I. Dominguez, B. Guerra, 2020, Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology.

Comparison between medium‐chain acyl‐CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells

L. Bolund, P. Bross, T. Jensen, 1995, Human mutation.

Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia

B. Andresen, S. Santra, M. Preece, 2016, Molecular genetics and metabolism reports.

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: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.

I Knudsen, P. Bross, B. Andresen, 2001, American journal of human genetics.

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

S. Hamilton-Dutoit, B. Andresen, N. Gregersen, 1997 .

Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics.

Vessela N Kristensen, Andrew J. Olson, Ravi Sachidanandam, 2007, Genome research.

The role of chaperone-assisted folding and quality control in inborn errors of metabolism: Protein folding disorders

L. Bolund, P. Bross, B. Andresen, 2001, Journal of Inherited Metabolic Disease.

Human and mouse mitochondrial orthologs of bacterial ClpX

L. Bolund, A. Børglum, P. Bross, 2000, Mammalian Genome.

Protein misfolding and degradation in genetic diseases

L. Bolund, P. Bross, B. Andresen, 1999, Human mutation.

Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation.

L. Bolund, P. Bross, T. Jensen, 1993, Biochimica et biophysica acta.

Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.

L. Bolund, B. Andresen, A. Blakemore, 1991, Clinica chimica acta; international journal of clinical chemistry.

Global identification of hnRNP A1 binding sites for SSO-based splicing modulation

A. Krainer, A. Masuda, K. Ohno, 2016, BMC Biology.

Syddansk Universitet Global identification of hnRNP A 1 binding sites for SSO-based splicing modulation

A. Krainer, A. Masuda, K. Ohno, 2016 .

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl‐CoA dehydrogenase deficiencies, with special focus on genotype–phenotype relationship

L. Bolund, P. Bross, B. Andresen, 2001, Human mutation.

Mutations in the medium chain acyl‐CoA dehydrogenase (MCAD) gene

K. Tanaka, B. Andresen, Yuan-Tsong Chen, 1992, Human mutation.

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

B. Andresen, J. Vockley, M. He, 2003, Pediatrics.

The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.

P. Bross, B. Andresen, P. Engel, 2004, European journal of biochemistry.

VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.

B. Andresen, N. Gregersen, A. Boneh, 2006, Molecular genetics and metabolism.

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

L. D. Schroeder, B. Andresen, N. Gregersen, 2011, Human mutation.

Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants

B. Andresen, G. Besley, M. Cortina-Borja, 2008, Journal of medical screening.

Characterization of a disease‐causing Glu119‐Lys mutation in the low‐density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia

L. Bolund, T. Jensen, B. Andresen, 1994, Human mutation.

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

Y. Hua, A. Krainer, T. K. Doktor, 2016, Nucleic acids research.

Syddansk Universitet RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U 12-dependent introns

Y. Hua, T. K. Doktor, G. H. Bruun, 2016 .

Analysis of the Epstein-Barr virus (EBV) latent membrane protein 1 (LMP-1) gene and promoter in Hodgkin's disease isolates: selection against EBV variants with mutations in the LMP-1 promoter ATF-1/CREB-1 binding site

S. Hamilton-Dutoit, B. Andresen, N. Gregersen, 2000, Molecular pathology : MP.

A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective protein.

K. Kristiansen, L. Bolund, O. Faergeman, 1997, Atherosclerosis.

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

L. D. Schroeder, E. R. Baumgartner, L. Bolund, 1999, American journal of human genetics.

The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency

P. Bross, B. Andresen, P. Divry, 1996, Journal of Inherited Metabolic Disease.

Ethylmalonic Aciduria Is Associated with an Amino Acid Variant of Short Chain Acyl-Coenzyme A Dehydrogenase

L. Bolund, P. Bross, T. Jensen, 1996, Pediatric Research.

Human ClpP protease: cDNA sequence, tissue‐specific expression and chromosomal assignment of the gene

P. Bross, B. Andresen, N. Gregersen, 1995, FEBS letters.

Danish expanded newborn screening is a successful preventive public health programme.

D. Hougaard, B. No̸rgaard-Pedersen, B. Andresen, 2020, Danish medical journal.

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

B. Andresen, N. Gregersen, J. Wierzba, 2010, Journal of Inherited Metabolic Disease.

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

B. Andresen, M. Pronicki, E. Jabłońska, 2011, Journal of Inherited Metabolic Disease.

High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene

D. Hougaard, B. Andresen, S. Dobrowolski, 2010, Journal of Inherited Metabolic Disease.

Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

D. Hougaard, B. Andresen, M. Bækvad-Hansen, 2021, International journal of neonatal screening.

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl‐CoA dehydrogenation deficiency

P. Bross, B. Andresen, N. Gregersen, 2003, Human mutation.

Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.

D. Hougaard, B. Andresen, M. Duno, 2015, JIMD reports.

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

D. Turnbull, E. Holme, B. Andresen, 2007, Brain : a journal of neurology.

Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype

B. Andresen, B. Poorthuis, H. Scholte, 1999, Neuromuscular Disorders.

Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency.

L. Bolund, P. Bross, T. Jensen, 1995, Scandinavian journal of clinical and laboratory investigation. Supplementum.

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.

L. D. Schroeder, R. Wanders, P. Bross, 2000, American journal of human genetics.

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

S. Packman, L. Bolund, P. Bross, 1997, Human molecular genetics.

Characterization of mouse Clpp protease cDNA, gene, and protein

L. D. Schroeder, L. Bolund, P. Bross, 2000, Mammalian Genome.

The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene

L. Bolund, B. Andresen, A. Blakemore, 1991, Human Genetics.

Two novel nonradioactive polymerase chain reaction-based assays of dried blood spots, genomic DNA, or whole cells for fast, reliable detection of Z and S mutations in the alpha 1-antitrypsin gene.

B. Andresen, N. Gregersen, P. K. Jensen, 1992, Clinical chemistry.

Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele

L. Bolund, P. Bross, T. Jensen, 1994, Journal of Inherited Metabolic Disease.

Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing

T. Illig, G. H. Bruun, B. Andresen, 2022, Frontiers in Genetics.

MCAD deficiency in Denmark.

D. Hougaard, B. No̸rgaard-Pedersen, P. Bross, 2012, Molecular genetics and metabolism.

VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.

B. Andresen, A. Boneh, J. Nation, 2016, Molecular genetics and metabolism.

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies

B. Andresen, G. Besley, J. Leonard, 2011, Journal of medical screening.

, Steve predictive value and test validity based on 1 . 5 million screened babies Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England : prevalence

B. Andresen, G. Besley, J. Leonard, 2011 .

Topoisomerase 1 inhibits MYC promoter activity by inducing G-quadruplex formation

Josephine Geertsen Keller, L. L. Holm, B. Andresen, 2022, Nucleic acids research.

findings from screening approximately 1.1 million newborn infants Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency:

B. Andresen, G. Besley, M. Cortina-Borja, 2013 .

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.

L. D. Schroeder, A. Krainer, J. Kjems, 2007, American journal of human genetics.

Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

B. Andresen, A. Ribes, P. Sánchez-Pintos, 2011, JIMD reports.

Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene

T. K. Doktor, Ulrika S S Petersen, L. L. Holm, 2022, Nucleic acid therapeutics.

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency

B. Andresen, P. Laforêt, B. Eymard, 2009, Neuromuscular Disorders.

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.

A. Mégarbané, B. Andresen, J. Sass, 2008, Molecular genetics and metabolism.

Late-onset form of β-electron transfer flavoprotein deficiency

B. Andresen, A. Ribes, N. Gregersen, 2003 .

Late-onset form of beta-electron transfer flavoprotein deficiency.

B. Andresen, A. Ribes, N. Gregersen, 2003, Molecular genetics and metabolism.

Medium chain acyl CoA dehydrogenase deficiency

B. Andresen, P. Engel, N. Gregersen, 2000 .

Mitochondrial fatty acid oxidation defects—remaining challenges

P. Bross, B. Andresen, N. Gregersen, 2008, Journal of Inherited Metabolic Disease.

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report

B. Andresen, D. Rabier, N. Gregersen, 2010, Orphanet journal of rare diseases.

Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain Acyl-CoA dehydrogenase deficiency

L. Bolund, P. Bross, B. Andresen, 1991, Journal of Inherited Metabolic Disease.

Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli

L. Bolund, P. Bross, B. Andresen, 1991, Human Genetics.

Impaired folding and subunit assembly as disease mechanism: the example of medium-chain acyl-CoA dehydrogenase deficiency.

P. Bross, B. Andresen, N. Gregersen, 1998, Progress in nucleic acid research and molecular biology.

Effects of Two Mutations Detected in Medium Chain Acyl-CoA Dehydrogenase (MCAD)-deficient Patients on Folding, Oligomer Assembly, and Stability of MCAD Enzyme (*)

L. Bolund, P. Bross, T. Jensen, 1995, The Journal of Biological Chemistry.

Prenatal diagnosis of medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

P. Bross, B. Andresen, S. Kolvraa, 1995, Prenatal diagnosis.

Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.

Y. T. Chen, L. Bolund, P. Bross, 1994, American journal of human genetics.

A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).

L. Bolund, M. Durán, P. Bross, 1993, American journal of human genetics.

Expression of wild-type and mutant medium-chain acyl-CoA dehydrogenase (MCAD) cDNA in eucaryotic cells.

L. Bolund, P. Bross, E. Holme, 1992, Biochimica et biophysica acta.

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency

F. Muntoni, B. Andresen, S. Rahman, 2003, Journal of Inherited Metabolic Disease.

DNA‐based prenatal diagnosis for severe and variant forms of multiple acyl‐CoA dehydrogenation deficiency

H. Mandel, B. Andresen, N. Gregersen, 2005, Prenatal diagnosis.

DNA-based prenatal diagnosis for very-long- chain acyl-CoA dehydrogenase deficiency

L. D. Schroeder, L. Bolund, R. Wanders, 1999, Journal of Inherited Metabolic Disease.

Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.

Peter Bross, Niels Gregersen, P. Bross, 2004, European journal of biochemistry.

Pseudoexon activation in disease by non‐splice site deep intronic sequence variation — wild type pseudoexons constitute high‐risk sites in the human genome

T. K. Doktor, Ulrika S S Petersen, B. Andresen, 2021, Human mutation.

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

G. H. Bruun, B. Andresen, N. Gregersen, 2017, Molecular genetics and metabolism.

VEGFA-targeting miR-agshRNAs combine efficacy with specificity and safety for retinal gene therapy

L. Kristensen, T. K. Doktor, B. Andresen, 2022, Molecular therapy. Nucleic acids.

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping

R. Sachidanandam, A. Krainer, R. Wanders, 2006, Human Genetics.

Splicing Factor 1 Modulates Dietary Restriction and TORC1 Pathway Longevity in C. elegans

Gerta Hoxhaj, Sneha Dutta, Ianessa Morantte, 2016, Nature.

The ETFDH c.158A>G Variation Disrupts the Balanced Interplay of ESE‐ and ESS‐Binding Proteins thereby Causing Missplicing and Multiple Acyl‐CoA Dehydrogenation Deficiency

T. K. Doktor, G. H. Bruun, B. Andresen, 2014, Human mutation.

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach

L. Andrews, P. Møller, A. Spurdle, 2022, Human mutation.

Protein Misfolding and Degradation in Genetic Disease

P. Bross, B. Andresen, N. Gregersen, 2006 .

TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping

B. Andresen, S. Korman, A. Zlotogorski, 2006, Journal of Inherited Metabolic Disease.

Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation.

L. Bolund, T. Jensen, B. Andresen, 1999, The Journal of clinical endocrinology and metabolism.

Two mutations in the same low‐density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia

L. Bolund, O. Faergeman, T. Jensen, 1997, Human mutation.

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 frequency of a 30-bp deletion in Malaysian and Danish peripheral T-cell lymphomas.

B. Andresen, K. Sandvej, S. Peh, 1994, Blood.

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

P. Bross, B. Andresen, N. Gregersen, 2000, Journal of Inherited Metabolic Disease.

Interstitial deletion of 1p22.2p31.1 and medium‐chain acyl‐CoA dehydrogenase deficiency in a patient with global developmental delay

B. Andresen, N. Poplawski, J. Clarke, 2008, American journal of medical genetics. Part A.

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.

Flemming Skovby, Arieh Cohen, Kristin Skogstrand, 2012, Molecular genetics and metabolism.

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

L. Bolund, P. Bross, B. Andresen, 2008, Human Genetics.

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer

J. Swensen, J. Carey, M. Larsen, 2016, PLoS genetics.

Absence of an Intron Splicing Silencer in Porcine Smn1 Intron 7 Confers Immunity to the Exon Skipping Mutation in Human SMN2

T. K. Doktor, B. Andresen, C. Sørensen, 2014, PloS one.

Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening.

B. Andresen, V. Anderson, A. Boneh, 2014, Molecular genetics and metabolism.

The Deep Intronic c.903+469T>C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cblE Type of Homocystinuria

L. D. Schroeder, T. K. Doktor, B. Andresen, 2010, Human mutation.

When the genetic code is not enough - How sequence variations can affect pre-mRNA splicing and cause (complex) disease. Chapter 15.

B. Andresen, A. Krainer, 2009 .

Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells

M. Baumgartner, T. Suormala, T. K. Doktor, 2015, Nucleic acids research.

Syddansk Universitet Splice-shifting oligonucleotide ( SSO ) mediated blocking of an exonic splicing enhancer ( ESE ) created by the prevalent c . 903 + 469 T > C MTRR mutation corrects splicing and restores enzyme activity in patient cells

M. Baumgartner, T. Suormala, G. H. Bruun, 2015 .

Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.

B. Andresen, N. Blau, S. Dobrowolski, 2012, Molecular genetics and metabolism.

University of Southern Denmark Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable-Molecular pathology of mutations in PAH exon 11 Heintz,

B. Andresen, N. Blau, S. Dobrowolski, 2012 .

The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer.

T. K. Doktor, B. Andresen, S. Dobrowolski, 2010, Molecular genetics and metabolism.

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5’ splice site

B. Andresen, B. Pérez, L. Desviat, 2018, PLoS genetics.

Syddansk Universitet Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U 1 snRNP binding downstream of the 5 ' splice site

Lourdes, B. Andresen, B. Pérez, 2018 .

Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers

T. K. Doktor, Ulrika S S Petersen, L. L. Holm, 2021, Human mutation.

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 mutations within the VLCAD gene.

K. Kristiansen, P. Bross, B. Andresen, 1996, Human molecular genetics.

A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation.

T. K. Doktor, G. H. Bruun, B. Andresen, 2013, Molecular genetics and metabolism.

The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.

T. K. Doktor, G. H. Bruun, B. Andresen, 2016, Molecular genetics and metabolism.

CUGBP1 and MBNL1 preferentially bind to 3′ UTRs and facilitate mRNA decay

A. Masuda, K. Ohno, T. K. Doktor, 2012, Scientific Reports.

Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex

L. Bolund, T. Jensen, B. Andresen, 2003, Experimental dermatology.

Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

L. Bolund, H. Eiberg, B. Andresen, 1999, The Journal of investigative dermatology.

Clinical Report Interstitial Deletion of 1p22.2p31.1 and Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Patient With Global Developmental Delay

B. Andresen, N. Poplawski, I. Teshima, 2008 .

Very long chain acyl‐coenzyme A dehydrogenase deficiency with adult onset

B. Andresen, N. Gregersen, S. V. van Duinen, 1998, Annals of neurology.

Corrigendum: Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans

Ianessa Morantte, T. K. Doktor, G. H. Bruun, 2017, Nature.

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate

S. Ferdinandusse, R. Wanders, B. Andresen, 2016, Journal of Inherited Metabolic Disease.

Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark.

D. Hougaard, B. Andresen, N. Gregersen, 2012, JIMD reports.

A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene.

L. Bolund, H. Eiberg, P. Bross, 1993, Human molecular genetics.

Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.

L. Waddell, B. Andresen, B. Wilcken, 2006, Molecular genetics and metabolism.

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

T. Rosenberg, G. H. Bruun, B. Andresen, 2019, Scientific Reports.

Amino acid polymorphism (Gly209Ser) in the ACADS gene.

P. Bross, B. Andresen, S. Kmoch, 1994, Human molecular genetics.

Down-regulation of CK2α correlates with decreased expression levels of DNA replication minichromosome maintenance protein complex (MCM) genes

T. K. Doktor, G. H. Bruun, B. Andresen, 2019, Scientific Reports.

Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency

B. Andresen, N. Gregersen, M. Pourfarzam, 2004, Journal of Inherited Metabolic Disease.

Two novel variants of human medium chain acyl‐CoA dehydrogenase (MCAD)

B. Andresen, P. Engel, L. O’Reilly, 2005, The FEBS journal.

Identification of Six Novel PTH1R Mutations in Families with a History of Primary Failure of Tooth Eruption

S. Kreiborg, B. Andresen, M. Duno, 2013, PloS one.

Identification of SRSF10 as a regulator of SMN2 ISS‐N1

Y. Hua, A. Krainer, M. Larsen, 2020, Human mutation.

Hmong Population by Newborn Screening Using Tandem Mass Spectrometry Prospective Diagnosis of 2-Methylbutyryl-CoA Dehydrogenase Deficiency in the

B. Andresen, J. Vockley, P. Rinaldo, 2005 .

A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation.

H. Eiberg, P. Bross, B. Andresen, 1999, Molecular genetics and metabolism.

Essential role of CK2α for the interaction and stability of replication fork factors during DNA synthesis and activation of the S-phase checkpoint

Kumar Somyajit, T. K. Doktor, B. Andresen, 2022, Cellular and Molecular Life Sciences.

A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency

B. Andresen, P. Divry, N. Gregersen, 2001, Archives of disease in childhood.

Fibroblast Fatty-Acid Oxidation Flux Assays Stratify Risk in Newborns with Presumptive-Positive Results on Screening for Very-Long Chain Acyl-CoA Dehydrogenase Deficiency

B. Andresen, Aneal Khan, R. Sparkes, 2017 .

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.

S. Cederbaum, B. Andresen, J. Vockley, 2002, Molecular genetics and metabolism.

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

F. Muntoni, B. Andresen, J. Bonham, 2005, Journal of Inherited Metabolic Disease.

Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

R. Wanders, H. Mandel, B. Andresen, 2007, American journal of human genetics.

Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.

T. K. Doktor, B. Andresen, J. Sass, 2019, Molecular genetics and metabolism.

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

Karlyne M. Reilly, K. Walsh, B. Korf, 2016, American journal of medical genetics. Part A.

Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations

P. Bross, B. Andresen, N. Gregersen, 2000, European Journal of Pediatrics.

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

T. Rosenberg, G. H. Bruun, B. Andresen, 2019, Scientific Reports.

Syddansk Universitet A pathogenic haplotype , common in Europeans , causes autosomal recessive albinism and uncovers missing heritability in OCA 1

T. Rosenberg, B. Andresen, K. Brøndum‐Nielsen, 2019 .

Apr 27, 2019 A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing

T. Rosenberg, B. Andresen, K. Brøndum‐Nielsen, 2019 .

Characterization of wild-type human medium-chain acyl-CoA dehydrogenase (MCAD) and mutant enzymes present in MCAD-deficient patients by two-dimensional gel electrophoresis: evidence for post-translational modification of the enzyme.

L. Bolund, P. Bross, T. Jensen, 1994, Biochemical medicine and metabolic biology.

77 Mutations of Human Medium-Chain Acyl-CoA Dehydrogenase

P. Bross, B. Andresen, P. Engel, 1998 .

Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.

B. Andresen, P. Waters, G. Horvath, 2008, Canadian journal of public health = Revue canadienne de sante publique.

Newborn Screening for MCAD Deficiency

B. Andresen, P. Waters, G. Horvath, 2008 .

Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency

B. Andresen, C. Pérez-Cerdá, B. Merinero, 1999, Journal of Inherited Metabolic Disease.

All exons are not created equal - Exon vulnerability determines the effect of exonic mutations on splicing

T. K. Doktor, L. L. Holm, B. Andresen, 2023, bioRxiv.

Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

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2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report

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2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation.

B. Andresen, S. Korman, A. Boneh, 2005, Clinical chemistry.

Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia

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Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells

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Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl‐CoA dehydrogenase deficiencies, with special focus on genotype–phenotype relationship

L. Bolund, P. Bross, B. Andresen, 2001, Human mutation.

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

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Proceedings of the fifth international RASopathies symposium: When development and cancer intersect

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Internalization, lysosomal degradation and new synthesis of surface membrane CD4 in phorbol ester-activated T-lymphocytes and U-937 cells.

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Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells

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Global identification of hnRNP A1 binding sites for SSO-based splicing modulation

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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.

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Surface membrane CD4 turnover in phorbol ester stimulated T‐lymphocytes

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An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

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Biochemical characterisation of mutations of human medium-chain acyl-CoA dehydrogenase.

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Consensus case definitions for MCADD among infants with presumptive positive newborn screening results

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