Selected publications

1. Scerri TS, Quaglieri A, Cai C, Zernant J, Matsunami N, Baird L, Scheppke L, Bonelli R, Yannuzzi LA, Friedlander M; MacTel Project Consortium, Egan CA, Fruttiger M, Leppert M, Allikmets R, Bahlo M. Genome-wide analyses identify common variants associated with macular telangiectasia type 2. Nat Genet. 2017 Apr;49(4):559-567. Epub 2017 Feb 27. PMID: 28250457
2. Freytag S, Burgess R, Oliver KL, Bahlo M. brain-coX: investigating and visualising gene co-expression in seven human brain transcriptomic datasets. Genome Med. 2017 Jun 8;9(1):55. PMID: 28595657
3. Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. Am J Hum Genet. 2017 Oct 5;101(4):516-524. Epub 2017 Sep 21 PMID: 28942967
4. Freytag S, Lonnstedt I, Ng M, Bahlo M. Cluster Headache: Comparing ClusteringTools for 10X Single Cell Sequencing Data. 2017 BioRxiv doi: 10.1101/203752
5. Henden L, Freytag S, Afawi Z, Baldassari S, Berkovic SF, Bisulli F, Canafoglia L, Casari G, Crompton DE, Depienne C, Gecz J, Guerrini R, Helbig I, Hirsch E, Keren B, Klein KM, Labauge P, LeGuern E, Licchetta L, Mei D, Nava C, Pippucci T, Rudolf G, Scheffer I, Striano P, Tinuper P, Zara F, Corbett M, Bahlo M. Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2. Hum Genet. 2016 Oct;135(10):1117-25. Epub 2016 Jul 1. PMID: 27368338
6. Henden L, Wakeham D, Bahlo M. XIBD: software for inferring pairwise identity by descent on the X chromosome. Bioinformatics. 2016 Aug 1;32(15):2389-91. Epub 2016 Mar 21. PMID: 27153693
7. Henden L., Lee S., Mueller I., Barry A., Bahlo M. (2016). Detecting selection signals in Plasmodium falciparum using identity-by-descent analysis. 2016 BioRxiv doi: 10.1101/088039
8. Freytag S, Gagnon-Bartsch J, Speed TP, Bahlo M. Systematic noise degrades gene co-expression signals but can be corrected. BMC Bioinformatics. 2015 Sep 24;16:309. PMID: 26403471
9. Oliver KL, Lukic V, Freytag S, Scheffer IE, Berkovic SF, Bahlo M. In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery. Neurol Genet. 2016 Jan 14;2(1):e51. PMID: 27066588
10. Gandolfo LC, Bahlo M, Speed TP. Dating rare mutations from small samples with dense marker data. Genetics. 2014 Aug;197(4):1315-27. Epub 2014 May 30. PMID: 24879464

Further publications