Melanie Bahlo-Publications

Melanie Bahlo-Publications

  1. Bahlo M, Tankard R, Lukic V, Oliver KL, Smith KR. Using familial information for variant filtering in high throughput sequencing studies. Hum Genet. 2014 Aug 17. PMID: 25129038
  2. Oliver KL, Lukic V, Thorne NP, Scheffer I, Berkovic S, Bahlo M. Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes. PLoS One. 2014 Jul 9;9(7):e102079. PMID: 25014031
  3. Gandolfo LC, Bahlo M, Speed TP. Dating Rare Mutations from Small Samples with Dense Marker Data. Genetics. 2014 May 30;197(4):1315-1327. PMID: 24879464
  4. Chandrananda C, Thorne NP, Ganesamoorthy D, Bruno DL, Benjamini Y, Speed TP, Slater HR, Bahlo M. Investigating and correcting plasma DNA sequencing coverage bias to enhance aneuploidy discovery. PLoS One. 2014 Jan 29;9(1):e86993. PMID: 24489824
  5. Smith KR, Dahl HHM, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grötzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet. 2013 Apr 1;22(7):1417-23. PMID: 23297359
  6. Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, Oliver KL, Mazarib A, Afawi Z, Korczyn A, Plazzi G, Petrou S, Berkovic SF, Scheffer IE*, Dibbens LM*, Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 2012 Oct 21;44(11):1188-90. *Joint last authors. PMID: 23086396
  7. Smith KR, Bromhead CJ, Hildebrand MS, Shearer AE, Lockhart PJ, Najmabadi H, Leventer RJ, McGillivray G, Amor DJ, Smith RJ, Bahlo M. Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes. Genome Biol. 2011 Sep 14;12(9):R85. PMID: 21917141
  8. Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E,,Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M*, Berkovic SF*. Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6. Am J Hum Genet. 2011 May 13;88(5):566-73. *Joint last author. PMID: 21549341
  9. Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J. A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24. Am J Hum Genet. 2010 Sep 10;87(3):371-5. PMID: 20797691
  10. Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, Lüllmann-Rauch R, Blanz J, Zhang KW, Stankovich J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D'Hooge R, Vadlamudi L, Macdonell RA, Hodgson BL, Bayly MA, Savige J, Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet. 2008 Mar;82(3):673-84. PMID: 18308289