Publications

  1. Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, François B, Genin EC, Fragaki K (2017), Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. Am J Hum Genet. PDF
  2. Carrasquinha E, Veríssimo A, Lopes MB, and Vinga S (2018). Identification of influential observations in high-dimensional cancer survival data through the rank product test. BioData Mining201811:1. PDF
  3. Feichtinger RG, Oláhová M, Kishita Y, …, Kopajtich R, …, Okazaki Y, Minczuk M, Prokisch H (2017). Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet. 101(4):525-538. PDF
  4. Floyd BJ, Wilkerson EM, Veling MT, …, Prokisch H, Kim JJ P, Coon JJ and Pagliarini DJ (2016), Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Mol Cell. PDF
  5. Glasgow RIC, Thompson K, Barbosa IA, …, Prokisch H, Haack TB, Hempel M, McFarland R, Taylor RW (2017). Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. Neurogenetics. 18(4):227-235. PDF
  6. Hofmann AL, Behr J, Singer J, Kuipers J, Beisel C, Schraml P, Moch H and Beerenwinkel N (2017). Detailed simulation of cancer exome sequencing data reveals differences and common limitations of variant callers. BMC Bioinformatics, 3;18(1):8. PDF
  7. Kopajtich R, Murayama K, Janecke AR, …, Georg F. Hoffmann GF, Prokisch H and Staufner C (2016), Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. Am J Hum Genet. PDF
  8. Kremer S, Bader DM, Mertes C, Kopajtich R, …, Meitinger T, Gagneur J and Prokisch H (2017), Genetic diagnosis of Mendelian disorders via RNA sequencing. PDF
  9. Kremer LS, Wortmann SB, Prokisch H (2018). “Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing. J Inherit Metab Dis. doi: 10.1007/s10545-017-0133-4. [Epub ahead of print]. PDF
  10. Lopes MB, Veríssimo A, Carrasquinha E, Casimiro S, Beerenwinkel N, Vinga S (2018). Ensemble outlier detection and gene selection in triple-negative breast cancer data. JBMC Bioinformatics, 19:168. doi: 10.1186/s12859-018-2149-7. LINK
  11. Stricker G, Engelhardt A, Schulz D, Schmid M, Tresch A and Julien Gagneur J (2017), GenoGAM: Genome-wide generalized additive models for ChIP-seq analysis. Bioinformatics (in press). bioRxiv.
  12. Thurnherr T, Singer F, Stekhoven DJ and Beerenwinkel N (2016). Genomic variant annotation workflow for clinical applications [version 2; referees: 2 approved]. F1000Research, 5:1963. PDF
  13. Tomás, E, Vinga, S, and Carvalho, A M (2017). Unsupervised learning of pharmacokinetic responses. Computational Statistics, 1-20. PDF
  14. Van Haute L, Dietmann S, Kremer L, …, Frye M, Prokisch H & Minczuk M (2016). Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3. Nat Commun. PDF
  15. Veríssimo, A, Oliveira, AL, Sagot, M-F, & Vinga, S (2016). DegreeCox – a network-based regularization method for survival analysis. BMC Bioinformatics, 17(S16), 449. PDF
  16. Witzel M, Petersheim D, Fan Y, Bahrami E, Racek T, Rohlfs M, Puchałka J, Mertes C, Gagneur J, …, Schmidt H, Schäffer AA and Klein C (2017). Chromatin-remodeling factors SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. Nat. Genet. Link