Selected publications from the Bahlo lab.

A complete list of publications from Melanie Bahlo is available from PubMed.

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XIBD: software for inferring pairwise identity by descent on the X chromosome.

Henden L, Wakeham D, Bahlo M. Bioinformatics. 2016 Aug 1;32(15):2389-91. doi: 10.1093/bioinformatics/btw124.

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Systematic noise degrades gene co-expression signals but can be corrected.

Freytag S, Gagnon-Bartsch J, Speed TP, Bahlo M. BMC Bioinformatics. 2015 Sep 24;16:309. doi: 10.1186/s12859-015-0745-3.

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High-resolution characterization of sequence signatures due to non-random cleavage of cell-free DNA.

Chandrananda D, Thorne NP, Bahlo M. BMC Med Genomics. 2015 Jun 17;8:29. doi: 10.1186/s12920-015-0107-z.

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Using familial information for variant filtering in high-throughput sequencing studies.

Bahlo M, Tankard R, Lukic V, Oliver KL, Smith KR. Hum Genet. 2014 Nov;133(11):1331-41. doi: 10.1007/s00439-014-1479-4. Review. Erratum in: Hum Genet. 2015 May;134(5):509.

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Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes.

Oliver KL, Lukic V, Thorne NP, Berkovic SF, Scheffer IE, Bahlo M. PLoS One. 2014 Jul 9;9(7):e102079. doi: 10.1371/journal.pone.0102079.

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Dating rare mutations from small samples with dense marker data.

Gandolfo LC, Bahlo M, Speed TP. Genetics. 2014 Aug;197(4):1315-27. doi: 10.1534/genetics.114.164616.

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A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR. Am J Hum Genet. 2014 Feb 6;94(2):209-22. doi: 10.1016/j.ajhg.2013.12.015.

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Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

Smith KR, Damiano J, Franceschetti S, Carpenter S, Canafoglia L, Morbin M, Rossi G, Pareyson D, Mole SE, Staropoli JF, Sims KB, Lewis J, Lin WL, Dickson DW, Dahl HH, Bahlo M, Berkovic SF. Am J Hum Genet. 2012 Jun 8;90(6):1102-7. doi: 10.1016/j.ajhg.2012.04.021.

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Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.

Smith KR, Bromhead CJ, Hildebrand MS, Shearer AE, Lockhart PJ, Najmabadi H, Leventer RJ, McGillivray G, Amor DJ, Smith RJ, Bahlo M. Genome Biol. 2011 Sep 14;12(9):R85. doi: 10.1186/gb-2011-12-9-r85.

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Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.

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. Am J Hum Genet. 2008 Mar;82(3):673-84. doi: 10.1016/j.ajhg.2007.12.019.