Publications

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  • AL Nguyen, EK Havrdova, D Horakova, G Izquierdo, T Kalincik, A van der Walt, M Terzi, R Alroughani, P Duquette, M Girard, A Prat, C Boz, P Sola, D Ferraro, A Lugaresi, J Lechner-Scott, M Barnett, P Grammond, C Ramo-Tello, R Turkoglu, P McCombe, E Pucci, M Trojano, F Granella, D Spitaleri, V Van Pesch, A Soysal, C Oreja-Guevara, F Verheul, S Vucic, S Hodgkinson, M Slee, R Ampapa, J Prevost, JLS Menoyo, O Skibina, C Solaro, J Olascoaga, C Shaw, KG Madsen, K Naidoo, R Hyde, H Butzkueven, V Jokubaitis, MSBase Study Group, M. Bahlo. Incidence of pregnancy and disease-modifying therapy exposure trends in women with multiple sclerosis: A contemporary cohort study.. Multiple sclerosis and related disorders, 28, 235-243, 2019. doi: 10.1016/j.msard.2019.01.003.

  • T Kalincik, E Kubala Havrdova, D Horakova, G Izquierdo, A Prat, M Girard, P Duquette, P Grammond, M Onofrj, A Lugaresi, S Ozakbas, L Kappos, J Kuhle, M Terzi, J Lechner-Scott, C Boz, J Prevost, P Sola, D Ferraro, F Granella, M Trojano, R Bergamaschi, E Pucci, R Turkoglu, PA McCombe, VV Pesch, B Van Wijmeersch, C Solaro, C Ramo-Tello, M Slee, R Alroughani, B Yamout, V Shaygannejad, D Spitaleri, JL Sánchez-Menoyo, R Ampapa, S Hodgkinson, R Karabudak, E Butler, S Vucic, V Jokubaitis, T Spelman, H Butzkueven, M. Bahlo. Comparison of fingolimod, dimethyl fumarate and teriflunomide for multiple sclerosis.. Journal of neurology, neurosurgery, and psychiatry, 458-468, 2019. doi: 10.1136/jnnp-2018-319831.

  • J William L Brown, Alasdair Coles, Dana Horakova, Eva Havrdova, Guillermo Izquierdo, Alexandre Prat, Marc Girard, Pierre Duquette, Maria Trojano, Alessandra Lugaresi, Roberto Bergamaschi, Pierre Grammond, Raed Alroughani, Raymond Hupperts, Pamela McCombe, Vincent Van Pesch, Patrizia Sola, Diana Ferraro, Murat Terzi, Jeannette Lechner-Scott, Schlomo Flechter, Mark Slee, Vahid Shaygannejad, Eugenio Pucci, Franco Granella, Vilija Jokubaitis, Mark Willis, Claire Rice, Neil Scolding, Alastair Wilkins, Owen R Pearson, Tjalf Ziemssen, Michael Hutchinson, Katharine Harding, Joanne Jones, Christopher McGuigan, Helmut Butzkueven, Tomas Kalincik, Neil Robertson, Marco Onofrj, Giovanna De Luca, Valeria Di Tommaso, Daniela Travaglini, Erika Pietrolongo, Maria di Ioia, Deborah Farina, Luca Mancinelli, Suzanne Hodgkinson, Celia Oreja-Guevara, Cavit Boz, Julie Prevost, Javier Olascoaga, Bart Van Wijmeersch, Michael Barnett, Freek Verheul, Juan Ingacio Rojas, Daniele Spitaleri, Maria Edite Rio, Bruce Taylor, Jose Luis Sanchez. Association of Initial Disease-Modifying Therapy with Later Conversion to Secondary Progressive Multiple Sclerosis. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 321, 175-187, 2019. doi: 10.1001/jama.2018.20588.

  • Frédérique J Liégeois, Samantha J Turner, Angela Mayes, Alexandra F Bonthrone, Amber Boys, Libby Smith, Bronwyn Parry-Fielder, Simone Mandelstam, Megan Spencer-Smith, M. Bahlo, Tom S Scerri, Michael S Hildebrand, Ingrid E Scheffer, Alan Connelly, Angela T Morgan. Dorsal language stream anomalies in an inherited speech disorder.. Brain : a journal of neurology, 966-977, 2019. doi: 10.1093/brain/awz018.

  • James Broadley, Udaya Seneviratne, Paul Beech, Katherine Buzzard, Helmut Butzkueven, Mastura Monif, M. Bahlo. Prognosticating autoimmune encephalitis: A systematic review.. Journal of autoimmunity, 96, 24-34, 2019. doi: 10.1016/j.jaut.2018.10.014.

  • A Glaser, A Stahmann, T Meissner, P Flachenecker, D Horáková, P Zaratin, G Brichetto, M Pugliatti, O Rienhoff, S Vukusic, AC de Giacomoni, MA Battaglia, W Brola, H Butzkueven, R Casey, J Drulovic, K Eichstädt, K Hellwig, P Iaffaldano, E Ioannidou, J Kuhle, K Lycke, M Magyari, T Malbaša, R Middleton, KM Myhr, K Notas, A Orologas, S Otero-Romero, T Pekmezovic, J Sastre-Garriga, P Seeldrayers, M Soilu-Hänninen, L Stawiarz, M Trojano, T Ziemssen, J Hillert, C Thalheim, M. Bahlo. Multiple sclerosis registries in Europe – An updated mapping survey. Multiple sclerosis and related disorders, 27, 171-178, 2019. doi: 10.1016/j.msard.2018.09.032.

  • Gil I Wolfe, Henry J Kaminski, Inmaculada B Aban, Greg Minisman, Hui-Chien Kuo, Alexander Marx, Philipp Stroebel, Claudio Mazia, Joel Oger, J Gabriel Cea, Jeannine M Heckmann, Amelia Evoli, Wilfred Nix, Emma Ciafaloni, Giovanni Antonini, Rawiphan Witoonpanich, John O King, Said R Beydoun, Colin H Chalk, Alexandru C Barboi, Anthony A Amato, Aziz I Shaibani, Bashar Katirji, Bryan RF Lecky, Camilla Buckley, Angela Vincent, Elza Dias-Tosta, Hiroaki Yoshikawa, Marcia Waddington-Cruz, Michael T Pulley, Michael H Rivner, Anna Kostera-Pruszczyk, Robert M Pascuzzi, Carlayne E Jackson, Jan JGM Verschuuren, Janice M Massey, John T Kissel, Lineu C Werneck, Michael Benatar, Richard J Barohn, Rup Tandan, Tahseen Mozaffar, Nicholas J Silvestri, Robin Conwit, Joshua R Sonett, Alfred Jaretzki, John Newsom-Davis, Gary R Cutter, P Ströbel, M Feese, V Saluto, M Rosenberg, V Alvarez, L Rey, H Butzkueven, J Goldblatt, J Carey, J Pollard, S Reddel, N Handel, B McCaughan, L Pallot, R Novis, C Boasquevisque, R Morato-Fernandez, M Xi. Long-term effect of thymectomy plus prednisone versus prednisone alone in patients with non-thymomatous myasthenia gravis: 2-year extension of the MGTX randomised trial.. The Lancet. Neurology, 18, 259-268, 2019. doi: 10.1016/S1474-4422(18)30392-2.

  • SE Stephenson, R Djaldetti, H Rafehi, GR Wilson, G Gillies, M. Bahlo, PJ Lockhart. Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update. Parkinsonism and Related Disorders, 308-311, 2019. doi: 10.1016/j.parkreldis.2019.03.013.

  • CA Slade, C McLean, T Scerri, TB Giang, S Megaloudis, A Strathmore, JC Tempany, K Nicholls, C D’Arcy, M. Bahlo, PD Hodgkin, JA Douglass, VL Bryant. Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2.. Journal of clinical immunology, 324-335, 2019. doi: 10.1007/s10875-019-00602-x.

  • Kamal Khan, Michael Zech, Angela T Morgan, David J Amor, Matej Skorvanek, Michael S Hildebrand, Victoria E Jackson, Thomas S Scerri, Matthew Coleman, Kristin A Rigbye, Ingrid E Scheffer, M. Bahlo, Matias Wagner, Daniel D Lam, Riccardo Berutti, Petra Havránková, Anna Fečíková, Tim M Strom, Vladimir Han, Petra Dosekova, Zuzana Gdovinova, Franco Laccone, Muhammad Jameel, Marie R Mooney, Shahid M Baig, Robert Jech, Erica E Davis, Nicholas Katsanis, Juliane Winkelmann. Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.. Genetics in medicine : official journal of the American College of Medical Genetics, 2532-2542, 2019. doi: 10.1038/s41436-019-0523-0.

  • DJ Amor, SEM Stephenson, M Mustapha, MA Mensah, CW Ockeloen, WS Lee, R. Tankard, DG Phelan, M Shinawi, APM de Brouwer, R Pfundt, C Dowling, TL Toler, VR Sutton, E Agolini, M Rinelli, R Capolino, D Martinelli, G Zampino, M Dumić, W Reardon, C Shaw-Smith, RJ Leventer, MB Delatycki, T Kleefstra, S Mundlos, G Mortier, M. Bahlo, NJ Allen, PJ Lockhart. Pathogenic Variants in GPC4 Cause Keipert Syndrome.. The American Journal of Human Genetics, 104, 914-924, 2019. doi: 10.1016/j.ajhg.2019.02.026.

  • Charlotte Slade, Maryam Rashidi, Tom Scerri, M. Bahlo, Steven Holt, Samantha Chan, James Vince, Philip Hodgkin, Jo A Douglass, Vanessa L Bryant. Deficiency of the Non-classical Inhibitor of NF-kappaB, IkappaBNS, Causes a Novel Primary Immunodeficiency Due to Dysregulated N-FkappaB Signaling. JOURNAL OF CLINICAL IMMUNOLOGY, 39, S74 (1pp), 2019.

  • Veronica Tsin Fong Voo, Helmut Butzkueven, Mastura Monif, Terence O’Brien, M. Bahlo. The role of vitamin D and P2X7R in multiple sclerosis.. Journal of neuroimmunology, 330, 159-169, 2019. doi: 10.1016/j.jneuroim.2019.03.004.

  • Kenneth A Myers, M. Bennett, Chung W Chow, Susan M Carden, Simone A Mandelstam, M. Bahlo, Ingrid E Scheffer. Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay. American Journal of Medical Genetics. Part A, 176, 230-234, 2018. doi: 10.1002/ajmg.a.38549.

  • Y. Liu, Yunyun Duan, Jing Huang, Zhuoqiong Ren, Huiqing Dong, Florian Weiler, Horst K Hahn, Fu-Dong Shi, Helmut Butzkueven, Frederik Barkhof, Kuncheng Li, M. Bahlo. Different patterns of longitudinal brain and spinal cord changes and their associations with disability progression in NMO and MS. European Radiology, 28, 96-103, 2018. doi: 10.1007/s00330-017-4921-x.

  • Andreea Waltmann, Cristian Koepfli, Natacha Tessier, Stephan Karl, Abebe Fola, Andrew W Darcy, Lyndes Wini, GL Abby Harrison, Celine Barnadas, Charlie Jennison, Harin Karunajeewa, Sarah Boyd, Maxine Whittaker, James Kazura, M. Bahlo, Ivo Mueller, Alyssa E Barry. Increasingly inbred and fragmented populations of Plasmodium vivax associated with the eastward decline in malaria transmission across the Southwest Pacific. PLOS Neglected Tropical Diseases, 12, e0006146 (21pp), 2018. doi: 10.1371/journal.pntd.0006146.

  • E Eising, A Carrion-Castillo, A Vino, EA Strand, KJ Jakielski, TS Scerri, MS Hildebrand, R Webster, A Ma, B Mazoyer, C Francks, M. Bahlo, IE Scheffer, AT Morgan, LD Shriberg, SE Fisher. A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. Molecular Psychiatry, 1065-1078, 2018. doi: 10.1038/s41380-018-0020-x.

  • Erin L Heinzen, Xiaolin Zhu, Andrew S Allen, M. Bahlo, Jamel Chelly, William B Dobyns, Saskia Freytag, Renzo Guerrini, Richard J Leventer, Annapurna Poduri, Stephen P Robertson, Christopher A Walsh, M. Zhang, Epi4K Consortium, Epilepsy Phenome/Genome Project. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.. PLoS Genet, 14, e1007281 (23pp), 2018. doi: 10.1371/journal.pgen.1007281.

  • SR Cameron-Christie, CF Wells, M. Simon, M Wessels, CZN Tang, W Wei, R Takei, C Aarts-Tesselaar, S Sandaradura, DO Sillence, MP Cordier, HE Veenstra-Knol, M Cassina, K Ludkig, E Trevisson, M. Bahlo, DM Markie, ZA Jenkins, SP Robertson. Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. American Journal of Human Genetics, 1115-1125, 2018. doi: 10.1016/j.ajhg.2018.04.008.

  • Yara Dadalti Fragoso, Tim Spelman, Cavit Boz, Raed Alroughani, Alessandra Lugaresi, Steve Vucic, Helmut Butzkueven, Murat Terzi, Eva Havrdova, Dana Horakova, Franco Granella, Javier Olascoaga, Jose Luis Sanchez-Menoyo, Eugenio Pucci, Michael Barnett, Joseph Bruno B Brooks, Jodi Haartsen, JL Sánchez-Menoyo, M. Bahlo. Lymphocyte count in peripheral blood is not associated with the level of clinical response to treatment with fingolimod. Multiple Sclerosis and Related Disorders, 19, 105-108, 2018. doi: 10.1016/j.msard.2017.11.018.

  • L. Henden, S Lee, I Mueller, A Barry, M. Bahlo. Identity-by-descent analyses for measuring population dynamics and selection in recombining pathogens.. PLoS genetics, 14, e1007279 (31pp), 2018. doi: 10.1371/journal.pgen.1007279.

  • L Kappos, A Bar-Or, BAC Cree, RJ Fox, G Giovannoni, R Gold, P Vermersch, DL Arnold, S Arnould, T Scherz, C Wolf, E Wallström, F Dahlke, A Achiron, L Achtnichts, K Agan, G Akman-Demir, AB Allen, JP Antel, AR Antiguedad, M Apperson, AM Applebee, GI Ayuso, M Baba, O Bajenaru, R Balasa, BP Balci, M Barnett, A Bass, VU Becker, M Bejinariu, FT Bergh, A Bergmann, E Bernitsas, A Berthele, V Bhan, F Bischof, RJ Bjork, G Blevins, M Boehringer, T Boerner, R Bonek, JD Bowen, A Bowling, AN Boyko, C Boz, V Bracknies, S Braune, V Brescia Morra, B Brochet, W Brola, PK Brownstone, M Brozman, D Brunet, I Buraga, M Burnett, M Buttmann, H Butzkueven, J Cahill, JC Calkwood, W Camu, M Cascione, G Castelnovo, D Centonze, J Cerqueira, A Chan, A Cimprichova, S Cohan, G Comi, J Conway, JA Cooper, J Corboy, J Correale, B Costell, DA Cottrell, PK Coyle, M Craner, L Cui, L Cunha, A Czlonkowska, AM da Silva, J de Sa, J de Seze, M Debouverie, J Debruyne, D Decoo, G Defer, T Derfuss, NH Deri, B Dihenia, P Dioszeghy, V Donath, B Dubois, M D. Siponimod versus placebo in secondary progressive multiple sclerosis (EXPAND): a double-blind, randomised, phase 3 study. The Lancet, 391, 1263-1273, 2018. doi: 10.1016/S0140-6736(18)30475-6.

  • Alessio Signori, Guillermo Izquierdo, Alessandra Lugaresi, Raymond Hupperts, Patrizia Sola, Dana Horakova, Eva Havrdova, Alexandre Prat, Marc Girard, Pierre Duquette, Cavit Boz, Pierre Grammond, Murat Terzi, Bhim Singhal, Raed Alroughani, Thor Petersen, Cristina Ramo, Celia Oreja-Guevara, Daniele Spitaleri, Vahid Shaygannejad, Helmut Butzkueven, Tomas Kalincik, Vilija Jokubaitis, Mark Slee, Ricardo Fernandez Bolanos, Jose Luis Sanchez-Menoyo, Eugenio Pucci, Franco Granella, Jeannette Lechner-Scott, Gerardo Iuliano, Stella Hughes, Roberto Bergamaschi, B. Taylor, Freek Verheul, Maria Edite Rio, Maria Pia Amato, Seyed Aidin Sajedi, Nastaran Majdinasab, Vincent Van Pesch, Maria Pia Sormani, Maria Trojano, F Grand Maison, R Fernandez Bolaños, Francois Grand’Maison, M. Bahlo. Long-term disability trajectories in primary progressive MS patients: A latent class growth analysis.. Multiple sclerosis (Houndmills, Basingstoke, England), 24, 642-652, 2018. doi: 10.1177/1352458517703800.

  • M. Bahlo, M. Bennett, P Degorski, R. Tankard, MB Delatycki, PJ Lockhart. Recent advances in the detection of repeat expansions with short-read next-generation sequencing [version 1; referees: 3 approved]. F1000Research, 7, 736, 2018. doi: 10.12688/f1000research.13980.1.

  • D Kinay, KL Oliver, E Tüzün, JA Damiano, C Ulusoy, E Andermann, MS Hildebrand, M. Bahlo, SF Berkovic. Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy.. Epilepsia, E125-E129, 2018. doi: 10.1111/epi.14506.

  • Saskia Freytag, Luyi Tian, Ingrid Lönnstedt, M. Ng, M. Bahlo. Comparison of clustering tools in R for medium-sized 10x Genomics single-cell RNA-sequencing data. 1297, 2018. doi: 10.12688/f1000research.15809.1.

  • Ivo JHM de Vos, Evelyn Yaqiong Tao, Sheena Li Ming Ong, Julian L Goggi, Thomas Scerri, Gabrielle R Wilson, Chernis Guai Mun Low, Arnette Shi Wei Wong, Dominic Grussu, Alexander PA Stegmann, Michel van Geel, Renske Janssen, David J Amor, M. Bahlo, Norris R Dunn, Thomas J Carney, Paul J Lockhart, Barry J Coull, Maurice AM van Steensel. Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.. Human molecular genetics, 27, 2775-2788, 2018. doi: 10.1093/hmg/ddy168.

  • Saskia Freytag, Luyi Tian, Ingrid Lönnstedt, M. Ng, M. Bahlo. Comparison of clustering tools in R for medium-sized 10x Genomics single-cell RNA-sequencing data.. F1000Research, 7, 1297, 2018. doi: 10.12688/f1000research.15809.1.

  • KT Booth, JW Askew, Z Talebizadeh, PLM Huygen, J Eudy, J Kenyon, D Hoover, MS Hildebrand, KR Smith, M. Bahlo, WJ Kimberling, H Azaiez. Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.. Genetics in medicine : official journal of the American College of Medical Genetics, 948-954, 2018. doi: 10.1038/s41436-018-0285-0.

  • Yara Dadalti Fragoso, Joseph Bruno B Brooks, Tim Spelman, Cavit Boz, Raed Alroughani, Alessandra Lugaresi, Steve Vucic, Helmut Butzkueven, Murat Terzi, Eva Havrdova, Dana Horakova, Franco Granella, Javier Olascoaga, Jose Luis Sanchez Menoyo, Eugenio Pucci, Michael Barnett, Jodi Haartsen, Lymphopenia and Efficacy of Fingolimod MSBase sub-study Investigators, M. Bahlo. Reply to: Comment on YD Fragoso et al.: "Lymphocyte count in peripheral blood is not associated with the level of clinical response to treatment with fingolimod" [Mult. Scler. Relat. Disord. (2017)]. Multiple sclerosis and related disorders, 22, 166 (1pp), 2018. doi: 10.1016/j.msard.2018.02.025.

  • Vilija G Jokubaitis, Yuan Zhou, Helmut Butzkueven, Bruce V Taylor, M. Bahlo. Genotype and Phenotype in Multiple Sclerosis—Potential for Disease Course Prediction?. Current treatment options in neurology, 20, 18 (14pp), 2018. doi: 10.1007/s11940-018-0505-6.

  • A Klistorner, Y Chai, L Leocani, P Albrecht, O Aktas, H Butzkueven, T Ziemssen, J Frederiksen, L Xu, D Cadavid, R Garrick, L Vanopdenbosch, G Comi, BS Dalmau, M Andersson, GT Plant, T Matthews, G Williams, M. Bahlo. Assessment of Opicinumab in Acute Optic Neuritis Using Multifocal Visual Evoked Potential. CNS Drugs, 1159-1171, 2018. doi: 10.1007/s40263-018-0575-8.

  • R. Tankard, Mark F Bennett, Peter Degorski, Martin B Delatycki, Paul J Lockhart, M. Bahlo. Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data.. American journal of human genetics, 103, 858-873, 2018. doi: 10.1016/j.ajhg.2018.10.015.

  • SR Cameron-Christie, J Wilde, A Gray, R. Tankard, M. Bahlo, D Markie, HM Evans, SP Robertson. Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family.. BMC Medical Genomics, 11, 121 (13pp), 2018. doi: 10.1186/s12920-018-0440-0.

  • B Abou-Khalil, P Auce, A Avbersek, M. Bahlo, D. Balding, T Bast, L Baum, AJ Becker, B Berghuis, SF Berkovic, KE Boysen, JP Bradfield, LC Brody, RJ Buono, E Campbell, GD Cascino, CB Catarino, GL Cavalleri, SS Cherny, K Chinthapalli, AJ Coffey, A Compston, A Coppola, P Cossette, JJ Craig, GJ de Haan, P De Jonghe, CGF de Kovel, N Delanty, C Depondt, O Devinsky, DJ Dlugos, CP Doherty, CE Elger, JG Eriksson, TN Ferraro, M Feucht, B Francis, A Franke, JA French, S Freytag, V Gaus, EB Geller, C Gieger, T Glauser, S Glynn, DB Goldstein, H Gui, Y Guo, KF Haas, H Hakonarson, K Hallmann, S Haut, EL Heinzen, I Helbig, C Hengsbach, H Hjalgrim, M Iacomino, A Ingason, J Jamnadas-Khoda, M. Johnson, R Kälviäinen, AM Kantanen, D Kasperavičiūte, D Kasteleijn-Nolst Trenite, HE Kirsch, RC Knowlton, BPC Koeleman, R Krause, M Krenn, WS Kunz, R Kuzniecky, P Kwan. Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. Nature Communications, 9, 5269 (15pp), 2018. doi: 10.1038/s41467-018-07524-z.

  • Saskia Freytag, Luyi Tian, Ingrid Lönnstedt, M. Ng, M. Bahlo. Comparison of clustering tools in R for medium-sized 10x Genomics single-cell RNA-sequencing data. 2018. doi: 10.12688/f1000research.15809.2.

  • Tian Luyi, Jaring Schreuder, Daniela Amann-Zalcenstein, J. Tran, Nikolce Kocovski, Shian Su, Peter Diakumis, M. Bahlo, Toby Sargeant, M. Ritchie, Philip Hodgkin, Shalin Naik. SIS-seq, a molecular 'time machine', connects single cell fate with gene programs. 2018. doi: 10.1101/403113.

  • L McLaughlin, L Clarke, E Khalilidehkordi, H Butzkueven, B Taylor, SA Broadley, M. Bahlo. Vitamin D for the treatment of multiple sclerosis: a meta-analysis.. Journal of neurology, 265, 2893-2905, 2018. doi: 10.1007/s00415-018-9074-6.

  • Gustavo Noffs, Thushara Perera, Scott C Kolbe, Camille J Shanahan, Frederique MC Boonstra, Andrew Evans, Helmut Butzkueven, Anneke van der Walt, Adam P Vogel, M. Bahlo. What speech can tell us: A systematic review of dysarthria characteristics in Multiple Sclerosis.. Autoimmunity reviews, 17, 1202-1209, 2018. doi: 10.1016/j.autrev.2018.06.010.

  • Y Geissbühler, J Vile, G Koren, M Guennec, H Butzkueven, H Tilson, TM MacDonald, K Hellwig, M. Bahlo. Evaluation of pregnancy outcomes in patients with multiple sclerosis after fingolimod exposure. Therapeutic Advances in Neurological Disorders, 11, 175628641880476, 2018. doi: 10.1177/1756286418804760.

  • Mark J Cowley, Yu-Chi Liu, Karen L Oliver, Gemma Carvill, Candace T Myers, Velimir Gayevskiy, Martin Delatycki, Danique RM Vlaskamp, Ying Zhu, Heather Mefford, Michael F Buckley, M. Bahlo, Ingrid E Scheffer, Marcel E Dinger, Tony Roscioli. Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.. Human mutation, 374-379, 2018. doi: 10.1002/humu.23699.

  • RA Marrie, H Butzkueven, A Ascherio, M. Bahlo. Obesity and brain volume loss in multiple sclerosis.. Neurology, 91, 1079-1080, 2018. doi: 10.1212/WNL.0000000000006638.

  • J Hobart, A Bowen, G Pepper, H Crofts, L Eberhard, T Berger, A Boyko, C Boz, H Butzkueven, EG Celius, J Drulovic, J Flores, D Horáková, C Lebrun-Frénay, RA Marrie, J Overell, F Piehl, PV Rasmussen, MJ Sá, CA Sîrbu, E Skromne, Ø Torkildsen, V van Pesch, T Vollmer, M Zakaria, T Ziemssen, G Giovannoni, M. Bahlo. International consensus on quality standards for brain health-focused care in multiple sclerosis. Multiple Sclerosis Journal, 1809-1818, 2018. doi: 10.1177/1352458518809326.

  • LL Lim, DG Silva, TC Lo, RS Pimentel, H Butzkueven, AJ Hall, M. Bahlo. Uveitis in Patients with Multiple Sclerosis in Clinical Trials of Fingolimod: Incidence, Prevalence, and Impact on Disease Course.. Ophthalmology, 438-444, 2018. doi: 10.1016/j.ophtha.2018.10.013.

  • Chloe Stutterd, Peter Diakumis, M. Bahlo, Miriam Fanjul Fernandez, Richard J Leventer, Martin Delatycki, David Amor, Chung W Chow, Sarah Stephenson, Miriam H Meisler, Catriona Mclean, Paul J Lockhart. Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14. Annals of Clinical And Translational Neurology, 859-864, 2017. doi: 10.1002/acn3.487.

  • Thomas S Scerri, Anna Quaglieri, Carolyn Cai, Jana Zernant, Nori Matsunami, Lisa Baird, Lea Scheppke, R. Bonelli, Lawrence A Yannuzzi, Martin Friedlander, Catherine A Egan, Marcus Fruttiger, Mark Leppert, Rando Allikmets, M. Bahlo, MacTel Project Consortium. Genome-wide analyses identify common variants associated with macular telangiectasia type 2. Nature Genetics, 49, 559-+, 2017. doi: 10.1038/ng.3799.

  • Ashley PL Marsh, Delphine Heron, Timothy J Edwards, Angelique Quartier, Charles Galea, Caroline Nava, Agnes Rastetter, Marie-Laure Moutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, Catherine Garel, Greta Gillies, Ilan Gobius, Justine Guegan, Solveig Heide, Boris Keren, Fabien Lesne, Vesna Lukic, Simone A Mandelstam, George McGillivray, Alissandra McIlroy, Aurelie Meneret, Cyril Mignot, Laura R Morcom, Sylvie Odent, Annalisa Paolino, Kate Pope, Florence Riant, Gail A Robinson, Megan Spencer-Smith, Myriam Srour, Sarah EM Stephenson, R. Tankard, Oriane Trouillard, Quentin Welniarz, Amanda Wood, Alexis Brice, Guy Rouleau, Tania Attie-Bitach, Martin B Delatycki, Jean-Louis Mandel, David J Amor, Emmanuel Roze, Amelie Piton, M. Bahlo, Thierry Billette de Villemeur, Elliott H Sherr, Richard J Leventer, Linda J Richards, Paul J Lockhart, Christel Depienne, A Méneret, T Attié-Bitach, T Billette De Villemeur. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nature Genetics, 49, 511-+, 2017. doi: 10.1038/ng.3794.

  • Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, Tony Roscioli, David R Thorburn, Kristina Prelog, M. Bahlo, Carolyn M Sue, Shanti Balasubramaniam, John Christodoulou. A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. Journal of Inherited Metabolic Disease, 40, 261-269, 2017. doi: 10.1007/s10545-016-0010-6.

  • Sara Kivity, Karen L Oliver, Zaid Afawi, John A Damiano, Todor Arsov, M. Bahlo, Samuel F Berkovic. SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood. Epilepsy Research, 131, 9-14, 2017. doi: 10.1016/j.eplepsyres.2017.01.012.

  • L. Henden, Stuart Lee, Ivo Mueller, Alyssa Barry, M. Bahlo. Identifying Positive Selection Associated with Antimalarial Drug Resistance in Plasmodium falciparum using Identity-By-Descent Analysis. Genetic Epidemiology, 41, 648 (1pp), 2017.

  • Charles D Warne, S. Zaloumis, Nadine A Bertalli, Martin B Delatycki, Amanda J Nicoll, Christine E McLaren, J. Hopper, Graham G Giles, Greg J Anderson, John K Olynyk, Lawrie W Powell, Katrina J Allen, Lyle C Gurrin, M. Bahlo, AR Fletcher, SM Forrest, NJ Osborne, CD Vulpe, L Turkovic, HealthIron Study Investigators. HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: A genotype-stratified cohort study of hemochromatosis in Australian women. Journal of Gastroenterology and Hepatology, 32, 797-802, 2017. doi: 10.1111/jgh.13621.

  • Saskia Freytag, Rosemary Burgess, Karen L Oliver, M. Bahlo. brain-coX: investigating and visualising gene co-expression in seven human brain transcriptomic datasets. Genome Medicine, 9, 55 (9pp), 2017. doi: 10.1186/s13073-017-0444-y.

  • Candace T Myers, Nicholas Stong, Emily I Mountier, Katherine L Helbig, Saskia Freytag, Joseph E Sullivan, Bruria Ben Zeev, Andreea Nissenkorn, Michal Tzadok, Gali Heimer, Deepali N Shinde, Arezoo Rezazadeh, Brigid M Regan, Karen L Oliver, Michelle E Ernst, Natalie C Lippa, Maureen S Mulhern, Zhong Ren, Annapurna Poduri, Danielle M Andrade, Lynne M Bird, M. Bahlo, Samuel F Berkovic, Daniel H Lowenstein, Ingrid E Scheffer, Lynette G Sadleir, David B Goldstein, Heather C Mefford, Erin L Heinzen. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. American Journal of Human Genetics, 101, 516-524, 2017. doi: 10.1016/j.ajhg.2017.08.013.

  • Martina Skopkova, Friederike Hennig, Byung-Sik Shin, Clesson E Turner, Daniela Stanikova, Katarina Brennerova, Juraj Stanik, Ute Fischer, L. Henden, Ulrich Mueller, Daniela Steinberger, Esther Leshinsky-Silver, Armand Bottani, Timea Kurdiova, Jozef Ukropec, Olga Nyitrayova, Miriam Kolnikova, Iwar Klimes, Guntram Borck, M. Bahlo, Stefan A Haas, Joo-Ran Kim, Leda E Lotspeich-Cole, Daniela Gasperikova, Thomas E Dever, Vera M Kalscheuer, U Müller. EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. Human Mutation, 38, 409-425, 2017. doi: 10.1002/humu.23170.

  • T Kalincik, V Jokubaitis, T Spelman, D Horakova, E Havrdova, M Trojano, J Lechner-Scott, A Lugaresi, A Prat, M Girard, P Duquette, P Grammond, C Solaro, F Grand Maison, R Hupperts, J Prevost, P Sola, D Ferraro, M Terzi, E Butler, M Slee, A Kermode, M Fabis-Pedrini, P McCombe, M Barnett, C Shaw, S Hodgkinson, H Butzkueven, MSBase Study Group, Francois Grand’Maison, M. Bahlo. Cladribine versus fingolimod, natalizumab and interferon β for multiple sclerosis.. Multiple sclerosis (Houndmills, Basingstoke, England), 1352458517728812-135245851772881, 2017. doi: 10.1177/1352458517728812.

  • R. Tankard, Mark Bennett, Peter Degorski, Martin Delatycki, Paul Lockhart, M. Bahlo. Detecting tandem repeat expansions in cohorts sequenced with short-read sequencing data. 2017. doi: 10.1101/157792.

  • Jakub Gruszczyk, Nicholas TY Lim, Alicia Arnott, Wen-Qiang He, Wang Nguitragool, Wanlapa Roobsoong, Yee-Foong Mok, James M Murphy, Katherine R Smith, Stuart Lee, M. Bahlo, Ivo Mueller, Alyssa E Barry, Wai-Hong Tham. Structurally conserved erythrocyte-binding domain in Plasmodium provides a versatile scaffold for alternate receptor engagement. Proceedings of the National Academy of Sciences of the United States of America, 113, E191-E200, 2016. doi: 10.1073/pnas.1516512113.

  • David J Amor, Ashley PL Marsh, Elsdon Storey, R. Tankard, Greta Gillies, Martin B Delatycki, Kate Pope, Catherine Bromhead, Richard J Leventer, M. Bahlo, Paul J Lockhart. Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.. Neurol Genet, 2, e114, 2016. doi: 10.1212/NXG.0000000000000114.

  • Frederique J Liegeois, Michael S Hildebrand, Alexandra Bonthrone, Samantha J Turner, Ingrid E Scheffer, M. Bahlo, Alan Connelly, Angela T Morgan, FJ Liégeois. Early neuroimaging markers of FOXP2 intragenic deletion. Scientific Reports, 6, 35192 (9pp), 2016. doi: 10.1038/srep35192.

  • Mark A Corbett, Susannah T Bellows, Melody Li, Renee Carroll, Silvana Micallef, Gemma L Carvill, Candace T Myers, Katherine B Howell, Snezana Maljevic, Holger Lerche, Elena V Gazina, Heather C Mefford, M. Bahlo, Samuel F Berkovic, Steven Petrou, Ingrid E Scheffer, Jozef Gecz. Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. Neurology, 87, 1975-1984, 2016. doi: 10.1212/WNL.0000000000003309.

  • E. Mofiz, Torsten Seemann, M. Bahlo, Deborah Holt, Bart J Currie, Katja Fischer, Anthony T Papenfuss. Mitochondrial Genome Sequence of the Scabies Mite Provides Insight into the Genetic Diversity of Individual Scabies Infections. PLOS Neglected Tropical Diseases, 10, e0004384 (16pp), 2016. doi: 10.1371/journal.pntd.0004384.

  • Charlotte L Alston, Alison G Compton, Luke E Formosa, Valentina Strecker, Monika Olahova, Tobias B Haack, Joel Smet, Katrien Stouffs, Peter Diakumis, Elzbieta Ciara, David Cassiman, Nadine Romain, John W Yarham, Langping He, Boel De Paepe, Arnaud V Vanlander, Sara Seneca, Rene G Feichtinger, Rafal Poski, Dariusz Rokicki, Ewa Pronicka, Ronald G Haller, Johan LK Van Hove, M. Bahlo, Johannes A Mayr, Rudy Van Coster, Holger Prokisch, Ilka Wittig, Michael T Ryan, David R Thorburn, Robert W Taylor, M Oláhová, R Płoski, Boel De Paepe, Johan LK Van Hove, Rudy Van Coster. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. American Journal of Human Genetics, 99, 217-227, 2016. doi: 10.1016/j.ajhg.2016.05.021.

  • Samuel F Berkovic, John F Staropoli, Stirling Carpenter, Karen L Oliver, Stanislav Kmoch, Glenn W Anderson, John A Damiano, Michael S Hildebrand, Katherine B Sims, Susan L Cotman, M. Bahlo, Katherine R Smith, Maxime Cadieux-Dion, Patrick Cossette, Ivana Jedlickova, Anna Pristoupilova, Sara E Mole, I Jedličková, A Přistoupilová, ANCL Gene Discovery Consortium. Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). Neurology, 87, 579-584, 2016. doi: 10.1212/WNL.0000000000002943.

  • L. Henden, Saskia Freytag, Zaid Afawi, Sara Baldassari, Samuel F Berkovic, Francesca Bisulli, Laura Canafoglia, Giorgio Casari, Douglas Ewan Crompton, Christel Depienne, Jozef Gecz, Renzo Guerrini, Ingo Helbig, Edouard Hirsch, Boris Keren, Karl Martin Klein, Pierre Labauge, Eric LeGuern, Laura Licchetta, Davide Mei, Caroline Nava, Tommaso Pippucci, Gabrielle Rudolf, Ingrid Eileen Scheffer, Pasquale Striano, Paolo Tinuper, Federico Zara, Mark Corbett, M. Bahlo. Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2. Human Genetics, 135, 1117-1125, 2016. doi: 10.1007/s00439-016-1700-8.

  • Zaid Afawi, Karen L Oliver, Sara Kivity, Aziz Mazarib, Ilan Blatt, Miriam Y Neufeld, Katherine L Helbig, Hadassa Goldberg-Stern, Adel J Misk, Rachel Straussberg, Simri Walid, Muhammad Mahajnah, Tally Lerman-Sagie, Bruria Ben-Zeev, Esther Kahana, Rafik Masalha, Uri Kramer, Dana Ekstein, Zamir Shorer, Robyn H Wallace, Marie Mangelsdorf, James N MacPherson, Gemma L Carvill, Heather C Mefford, Graeme D Jackson, Ingrid E Scheffer, M. Bahlo, Jozef Gecz, Sarah E Heron, Mark Corbett, John C Mulley, Leanne M Dibbens, Amos D Korczyn, Samuel F Berkovic. Multiplex families with epilepsy Success of clinical and molecular genetic characterization. Neurology, 86, 713-722, 2016. doi: 10.1212/WNL.0000000000002404.

  • Joe C Sim, Thomas Scerri, Miriam Fanjul-Fernandez, Jessica R Riseley, Greta Gillies, Kate Pope, Hanna van Roozendaal, Julian I Heng, Simone A Mandelstam, George McGillivray, Duncan MacGregor, Lakshminarayanan Kannan, Wirginia Maixner, A Simon Harvey, David J Amor, Martin B Delatycki, Peter B Crino, M. Bahlo, Paul J Lockhart, Richard J Leventer, M Fanjul-Fernández, H Van Roozendaal, D Macgregor, G Mcgillivray. Familial Cortical Dysplasia Caused by Mutation in the Mammalian Target of Rapamycin Regulator NPRL3. Annals of Neurology, 79, 132-137, 2016. doi: 10.1002/ana.24502.

  • Dean G Phelan, David J Anderson, Sara E Howden, Raymond CB Wong, Peter F Hickey, Kate Pope, Gabrielle R Wilson, Alice Pebay, Andrew M Davis, Steven Petrou, Andrew G Elefanty, Edouard G Stanley, Paul A James, Ivan Macciocca, M. Bahlo, Michael M Cheung, David J Amor, David A Elliott, Paul J Lockhart, A Pébay. ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy(aEuro). European Heart Journal, 37, 2586-2590, 2016. doi: 10.1093/eurheartj/ehw160.

  • L. Henden, D. Wakeham, M. Bahlo. XIBD: software for inferring pairwise identity by descent on the X chromosome.. Bioinformatics, 32, 2389-2391, 2016. doi: 10.1093/bioinformatics/btw124.

  • Ashley PL Marsh, Vesna Lukic, Kate Pope, Catherine Bromhead, R. Tankard, Monique M Ryan, Eppie M Yiu, Joe CH Sim, Martin B Delatycki, David J Amor, George McGillivray, Elliott H Sherr, M. Bahlo, Richard J Leventer, Paul J Lockhart. Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.. Neurol Genet, 1, e16, 2015. doi: 10.1212/NXG.0000000000000014.

  • Karen L Oliver, Vesna Lukic, Saskia Freytag, Ingrid E Scheffer, Samuel F Berkovic, M. Bahlo. In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.. Neurol Genet, 2, e51, 2015. doi: 10.1212/NXG.0000000000000051.

  • Marie Shaw, Tzu Ying Yap, L. Henden, M. Bahlo, Alison Gardner, Vera M Kalscheuer, Eric Haan, Louise Christie, Anna Hackett, Jozef Gecz. Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome. European Journal of Medical Genetics, 58, 364-368, 2015. doi: 10.1016/j.ejmg.2015.04.004.

  • Teodora Chamova, Velina Guergueltcheva, Mariana Gospodinova, Sabine Krause, Sebahattin Cirak, Ara Kaprelyan, Lyudmila Angelova, Violeta Mihaylova, Stoyan Bichev, David Chandler, Emanuil Naydenov, Margarita Grudkova, Presian Djukmedzhiev, Thomas Voit, Oksana Pogoryelova, Hanns Lochmueller, Hans H Goebel, M. Bahlo, Luba Kalaydjieva, Ivailo Tournev, H Lochmüller. GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. Neuromuscular Disorders, 25, 713-718, 2015. doi: 10.1016/j.nmd.2015.07.004.

  • Lynette G Sadleir, Sarah Paterson, Katherine R Smith, Natalie Redshaw, Annemarei Ranta, Renate Kalnins, Samuel F Berkovic, M. Bahlo, Michael S Hildebrand, Ingrid E Scheffer. Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome. Epilepsy Research, 114, 98-105, 2015. doi: 10.1016/j.eplepsyres.2015.04.014.

  • Dineika Chandrananda, Natalie P Thorne, M. Bahlo. High-resolution characterization of sequence signatures due to non-random cleavage of cell-free DNA. BMC Medical Genomics, 8, 29 (19pp), 2015. doi: 10.1186/s12920-015-0107-z.

  • Charlie Jennison, Alicia Arnott, Natacha Tessier, Livingstone Tavul, Cristian Koepfli, Ingrid Felger, Peter M Siba, John C Reeder, M. Bahlo, Ivo Mueller, Alyssa E Barry. Plasmodium vivax Populations Are More Genetically Diverse and Less Structured than Sympatric Plasmodium falciparum Populations. PLOS Neglected Tropical Diseases, 9, e0003634 (20pp), 2015. doi: 10.1371/journal.pntd.0003634.

  • Saskia Freytag, Johann Gagnon-Bartsch, Terence P Speed, M. Bahlo. Systematic noise degrades gene co-expression signals but can be corrected. BMC Bioinformatics, 16, 309 (17pp), 2015. doi: 10.1186/s12859-015-0745-3.

  • Simon P Sadedin, Harriet Dashnow, Paul A James, M. Bahlo, Denis C Bauer, Andrew Lonie, Sebastian Lunke, Ivan Macciocca, Jason P Ross, Kirby R Siemering, Zornitza Stark, Susan M White, Graham Taylor, Clara Gaff, Alicia Oshlack, Natalie P Thorne, Melbourne Genomics Health Alliance. Cpipe: a shared variant detection pipeline designed for diagnostic settings. Genome Medicine, 7, 68 (10pp), 2015. doi: 10.1186/s13073-015-0191-x.

  • Stefanie Eggers, Katherine R Smith, M. Bahlo, Leendert HJ Looijenga, Stenvert LS Drop, Zulfa A Juniarto, Vincent R Harley, Peter Koopman, Sultana MH Faradz, Andrew H Sinclair. Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1. European Journal of Human Genetics, 23, 486-493, 2015. doi: 10.1038/ejhg.2014.130.

  • Raman Kumar, Mark A Corbett, Nicholas JC Smith, Lachlan A Jolly, Chuan Tan, Damien J Keating, Michael D Duffield, Toshihiko Utsumi, Koko Moriya, Alexander Hoischen, Kim Abbott, Michael G Harbord, Alison G Compton, Joshua A Woenig, Peer Arts, Michael Kwint, Nienke Wieskamp, Sabine Gijsen, Joris A Veltman, M. Bahlo, Joseph G Gleeson, Eric Haan, Jozef Gecz. Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder. Human Molecular Genetics, 24, 2000-2010, 2015. doi: 10.1093/hmg/ddu614.

  • Sophie G Zaloumis, Katrina J Allen, Nadine A Bertalli, Lidija Turkovic, Martin B Delatycki, Amanda J Nicoll, Christine E McLaren, Dallas R English, John L Hopper, Graham G Giles, Gregory J Anderson, John K Olynyk, Lawrie W Powell, Lyle C Gurrin, HealthIron Study Investigators, M. Bahlo, CD Vulpe, SM Forrest, AR Fletcher. Natural history ofHFEsimple heterozygosity for C282Y and H63D: A prospective 12-year study. Journal of gastroenterology and hepatology, 30, 719-725, 2015. doi: 10.1111/jgh.12804.

  • Gabrielle R Wilson, Joe CH Sim, Catriona McLean, Maila Giannandrea, Charles A Galea, Jessica R Riseley, Sarah EM Stephenson, Elizabeth Fitzpatrick, Stefan A Haas, Kate Pope, Kirk J Hogan, Ronald G Gregg, C. Bromhead, David S Wargowski, Christopher H Lawrence, Paul A James, Andrew Churchyard, Y. Gao, Dean G Phelan, Greta Gillies, Nicholas Salce, Lynn Stanford, Ashley PL Marsh, Maria L Mignogna, Susan J Hayflick, Richard J Leventer, Martin B Delatycki, George D Mellick, Vera M Kalscheuer, M. Bahlo, David J Amor, Paul J Lockhart, Patrizia D’Adamo. Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with alpha-Synuclein Pathology. American Journal of Human Genetics, 95, 729-735, 2014. doi: 10.1016/j.ajhg.2014.10.015.

  • M. Bahlo, R. Tankard, Vesna Lukic, Karen L Oliver, Katherine R Smith. Using familial information for variant filtering in high-throughput sequencing studies. Human Genetics, 133, 1331-1341, 2014. doi: 10.1007/s00439-014-1479-4.

  • Lesser, Vaz, Halder, PJ Lockhart, Davor Lessel, Ivana Marinovic-Terzic, Jaime Lopez-Mosqueda, Melanie Philipp, Joe CH Sim, Katherine R Smith, Judith Oehler, Elisa Cabrera, Raimundo Freire, Kate Pope, Amsha Nahid, Fiona Norris, Richard J Leventer, Martin B Delatycki, Gotthold Barbi, Simon von Ameln, Josef Hoegel, Marina Degoricija, Regina Fertig, Martin D Burkhalter, Kay Hofmann, Holger Thiele, Janine Altmueller, Gudrun Nuernberg, M. Bahlo, George M Martin, Cora M Aalfs, Junko Oshima, Janos Terzic, David J Amor, Ivan Dikic, Kristijan Ramadan, Christian Kubisch, J Högel, J Altmüller, G Nürnberg. Mutations in SPRTN cause early-onset hepatocellular carcinoma, genomic instability and progeroid features. Nature Genetics, 99, 1239-1244, 2014. doi: 10.1038/ng.3103.

  • Damien L Bruno, Devika Ganesamoorthy, Natalie P Thorne, Ling Ling, M. Bahlo, Sue Forrest, Marieke Veenendaal, Marina Katerelos, Alison Skene, Frank L Ierino, David A Power, Howard R Slater. Use of Copy Number Deletion Polymorphisms to Assess DNA Chimerism. Clinical Chemistry, 60, 1105-1114, 2014. doi: 10.1373/clinchem.2013.216077.

  • L. Gandolfo, M. Bahlo, T. Speed. Dating Rare Mutations from Small Samples with Dense Marker Data. Genetics, 197, 1315-U437, 2014. doi: 10.1534/genetics.114.164616.

  • D Chandrananda, NP Thorne, D Ganesamoorthy, DL Bruno, Y Benjamini, T. Speed, HR Slater, M. Bahlo. Investigating and Correcting Plasma DNA Sequencing Coverage Bias to Enhance Aneuploidy Discovery. PLoS One, 9, e86993 (14pp), 2014. doi: 10.1371/journal.pone.0086993.

  • K Smith, RJ Leventer, M Mackay, K Pope, G Gillies, MB Delatycki, DJ Amor, M. Bahlo, PJ Lockhart. Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy. International Journal of Stroke, 9, E26-E27, 2014. doi: 10.1111/ijs.12306.

  • KL Oliver, V Lukic, NP Thorne, SF Berkovic, IE Scheffer, M. Bahlo. Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes. PLoS One, 9, e102079 (11pp), 2014. doi: 10.1371/journal.pone.0102079.

  • S Lim, K Smith, A Stroud, AG Compton, EJ Tucker, A Dasvarma, L. Gandolfo, E Marum, McKenzie, H Peters, Mowat, G Procopis, Wilcken, Christodoulou, K Brown, T Ryan, M. Bahlo, DR Thorburn. A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. American Journal of Human Genetics, 94, 209-222, 2014. doi: 10.1016/j.ajhg.2013.12.015.

  • G Wilson, Sunley, KR Smith, Pope, J Bromhead, Fitzpatrick, D Rocco, van Steensel, Coman, RJ Leventer, MB Delatycki, DJ Amor, M. Bahlo, PJ Lockhart, Maja Di Rocco, M Van Steensel. Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.. European Journal of Human Genetics, 22, 741-747, 2014. doi: 10.1038/ejhg.2013.229.

  • DJ Amor, M. Bahlo, Frank J Kaiser, Morad Ansari, Diana Braunholz, Maria Concepcion Gil-Rodriguez, Christophe Decroos, Jonathan J Wilde, Christopher T Fincher, Maninder Kaur, Masashige Bando, Paldeep S Atwal, Christine M Bowman, Jacquelyn J Bradley, Han G Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs, David A Dyment, Juliane Eckhold, Sarah Ernst, Jose C Ferreira, Lauren J Francey, Ulrike Gehlken, Encarna Guillen-Navarro, Yolanda Gyftodimou, Bryan D Hall, Raoul Hennekam, Louanne Hudgins, Melanie Hullings, Jennifer M Hunter, Helger Yntema, A Micheil Innes, Antonie D Kline, Zita Krumina, H. Lee, Kathleen Leppig, Sally Ann Lynch, Mark B Mallozzi, Linda Mannini, Shane Mckee, Sarju G Mehta, Ieva Micule, Shehla Mohammed, Ellen Moran, Geert R Mortier, Joe-Ann S Moser, Sarah E Noon, Naohito Nozaki, Luis Nunes, John G Pappas, Lynette S Penney, Antonio Perez-Aytes, Michael B Petersen, Beatriz Puisac, Nicole Revencu, Elizabeth Roeder, Sulagna Saitta, Angela E Scheuerle, Karen L Sc. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Human Molecular Genetics, 23, 2888-2900, 2014. doi: 10.1093/hmg/ddu002.

  • S Ballouz, JY Liu, M Oti, B Gaeta, D Fatkin, M. Bahlo, MA Wouters. Candidate disease gene prediction usingGentrepid: application to a genome-wide association study on coronary artery disease. Molecular genetics & genomic medicine, 2, 44-57, 2014. doi: 10.1002/mgg3.40.

  • WS Stevenson, MC Morel-Kopp, Q Chen, HP Liang, C. Bromhead, S Wright, R Turakulov, AW Roberts, M. Bahlo, CM Ward. GFI1B mutation causes a bleeding disorder with abnormal platelet function. Journal of Thrombosis and Haemostasis, 11, 2039-2047, 2013. doi: 10.1111/jth.12368.

  • IJ Majewski, AJ Bosma, R Bernards, I Kluijt, FBL Hogervorst, A Cats, D De Jong, RJC Kluin, J Jonkers, I Hofland, M Winter, TS Scerri, M. Bahlo, S Hansford, D Huntsman. An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer. Journal of Pathology, 229, 621-629, 2013. doi: 10.1002/path.4152.

  • SJ Turner, MS Hildebrand, S Block, JA Damiano, M Fahey, S Reilly, M. Bahlo, IE Scheffer, AT Morgan. Small Intragenic Deletion in FOXP2 Associated With Childhood Apraxia of Speech and Dysarthria. American Journal of Medical Genetics. Part A, 161, 2321-2326, 2013. doi: 10.1002/ajmg.a.36055.

  • KR Smith, H Dahl, L Canafoglia, E Andermann, JA Damiano, M Morbin, AC Bruni, G Ciccone, P Cossette, P Saftig, J Grotzinger, M Schwake, JF Staropoli, KB Sims, SE Mole, S Franceschetti, NA Alexander, JD Cooper, HA Chapman, S Carpenter, SF Berkovic, M. Bahlo, Giorgio Giaccone, Joachim Groetzinger, J Grötzinger. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Human Molecular Genetics, 22, 1417-1423, 2013. doi: 10.1093/hmg/dds558.

  • KM Klein, C. Bromhead, K Smith, SJ Corcoran, SE Heron, X Iona, BL Hodgson, JM McMahon, KM Lawrence, IE Scheffer, LM Dibbens, M. Bahlo, SF Berkovic. Autosomal dominant vasovagal syncope Clinical features and linkage to chromosome 15q26. Neurology, 80, 1485-1493, 2013. doi: 10.1212/WNL.0b013e31828cfad0.

  • L Boisse Lomax, MA Bayly, H Hjalgrim, RS Moller, AM Vlaar, KM Aaberg, I Marquardt, L. Gandolfo, M Willemsen, EJ Kamsteeg, GC Korenke, BR Bloem, IF de Coo, JMA Verhagen, I Said, T Prescott, A Stray-Pedersen, M Rasmussen, DF Vears, AE Lehesjoki, MA Corbett, M. Bahlo, J Gecz, LM Dibbens, SF Berkovic, L Boissé Lomax, RS Møller, John D O’Sullivan. 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. Brain, 136, 1146-1154, 2013. doi: 10.1093/brain/awt021.

  • Nikolaos A Patsopoulos, Lisa F Barcellos, Rogier Q Hintzen, Catherine Schaefer, Cornelia M Van Duijn, Janelle A Noble, Towfique Raj, Pierre-Antoine Gourraud, Barbara E Stranger, Jorge Oksenberg, Tomas Olsson, B. Taylor, Stephen Sawcer, David A Hafler, Mary Carrington, Philip L De Jager, Paul IW De Bakker, L Bernardinelli, D Booth, M Comabella, A Compston, B Fontaine, A Goris, J Haines, H Harbo, S Hauser, C Hawkins, B Hemmer, A Ivinson, C Lill, R Martin, F Martinelli-Boneschi, A Oturai, A Palotie, M PericakVance, J Saarela, G Stewart, F Zipp, RJ Scott, J Lechner-Scott, P Moscato, RN Heard, D. Mason, L Griffiths, S Broadley, MA Brown, M Slee, SJ Foote, J Stankovich, J Wiley, M. Bahlo, V Perreau, J Field, H Butzkueven, TJ Kilpatrick, J Rubio, M Marriott, WM Carroll1, AG Kermode, IMSGC, ANZgene. Fine-mapping the genetic association of the major histocompatibility complex in multiple sclerosis: HLA and non-HLA effects.. PLoS genetics, 9, e1003926 (10pp), 2013. doi: 10.1371/journal.pgen.1003926.

  • DN Azmanov, T Chamova, R. Tankard, V Gelev, M Bynevelt, L Florez, D Tzoneva, D Zlatareva, V Guergueltcheva, M. Bahlo, I Tournev, L Kalaydjieva. Challenges of diagnostic exome sequencing in an inbred founder population.. Molecular genetics & genomic medicine, 1, 71-76, 2013. doi: 10.1002/mgg3.7.

  • WC Leong, JC Komen, CA Hewitt, E Arnaud, M McKenzie, B. Phipson, M. Bahlo, A Laskowski, SA Kinkel, G Davey, WR Heath, AK Voss, RI Zahedi, JJ Pitt, R Chrast, A Sickmann, MT Ryan, G. Smyth, DR Thorburn, HS Scott. Proteomic and Metabolomic Analyses of Mitochondrial Complex I-deficient Mouse Model Generated by Spontaneous B2 Short Interspersed Nuclear Element (SINE) Insertion into NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4 (Ndufs4) Gene. Journal of Biological Chemistry, 287, 20652-20663, 2012. doi: 10.1074/jbc.M111.327601.

  • C. Oates, Reddel, L Rodriguez, C Gandolfo, M. Bahlo, H Hawke, SR Lamande, F Clarke, North, SR Lamandé. Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells. Brain, 135, 1714-1723, 2012. doi: 10.1093/brain/aws108.

  • KR Smith, J Damiano, S Franceschetti, S Carpenter, L Canafoglia, M Morbin, G Rossi, D Pareyson, ES Moles, JF Staropoli, KB Sims, J Lewis, W. Lin, DW Dickson, H Dahl, M. Bahlo, SF Berkovic, Sara E Mole. Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage. American Journal of Human Genetics, 90, 1102-1107, 2012. doi: 10.1016/j.ajhg.2012.04.021.

  • V Guergueltcheva, DN Azmanov, D Angelicheva, KR Smith, T Chamova, L Florez, M Bynevelt, T. Nguyen, S Cherninkova, V Bojinova, A Kaprelyan, L Angelova, B Morar, D Chandler, R Kaneva, M. Bahlo, I Tournev, L Kalaydjieva, Nguyen Thai. Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1. American Journal of Human Genetics, 91, 553-564, 2012. doi: 10.1016/j.ajhg.2012.07.019.

  • SE Heron, K Smith, M. Bahlo, L Nobili, E Kahana, L Licchetta, KL Oliver, A Mazarib, Z Afawi, A Korczyn, G Plazzi, S Petrou, SF Berkovic, IE Scheffer, LM Dibbens. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nature Genetics, 44, 1188-1190, 2012. doi: 10.1038/ng.2440.

  • DE Crompton, LG Sadleir, C. Bromhead, M. Bahlo, ST Bellows, T Arsov, R Harty, KM Lawrence, JW Dunne, SF Berkovic, IE Scheffer. Familial Adult Myoclonic Epilepsy: Recognition of mild phenotypes and refinement of the 2q locus. Archives of Neurology, 69, 474-481, 2012. doi: 10.1001/archneurol.2011.584.

  • Lin, Charlesworth, Stankovich, VM Perreau, M A Brown, V Taylor, A Baxter, A Kermode, M. Bahlo, W Carroll, H Butzkueven, D Booth, G Stewart, J Wiley, J Field, L Tajouri, L Griffiths, M Barnett, P Moscato, R Heard, R Scott, S McColl, S Foote, S Broadley, M Slee, S Vucic, T Kilpatrick, ANZgene Consortium. Identity-by-descent mapping to detect rare variants conferring susceptibility to multiple sclerosis.. PloS one, 8, e56379 (8pp), 2012. doi: 10.1371/journal.pone.0056379.

  • CM Lill, H Butzkueven, J Field, CJ Jensen, LJ Johnson, TJ Kilpatrick, JP Rubio, EJ Wilkins, F Zipp, T. Liu, Brit-Maren M Schjeide, Johannes T Roehr, Denis A Akkad, Vincent Damotte, Antonio Alcina, Miguel A Ortiz, Rafa Arroyo, Aitzkoa Lopez de lapuente, Paul Blaschke, Alexander Winkelmann, Lisa-Ann Gerdes, Felix Luessi, Oscar Fernadez, Guillermo Izquierdo, Alfredo Antigueedad, Sabine Hoffjan, Isabelle Cournu-Rebeix, Silvana Gromoeller, Hans Faber, Maria Liebsch, Esther Meissner, Coralie Chanvillard, Emmanuel Touze, Fernando Pico, Philippe Corcia, Thomas Doerner, Elisabeth Steinhagen-Thiessen, Lars Baeckman, Hauke R Heekeren, S. Li, Ulman Lindenberger, Andrew Chan, Hans-Peter Hartung, Orhan Aktas, Peter Lohse, Tania Kuempfel, Christian Kubisch, Joerg T Epplen, Uwe K Zettl, Bertrand Fontaine, Koen Vandenbroeck, Fuencisla Matesanz, Elena Urcelay, Lars Bertram, A Antigüedad, S Gromöller, T Dörner, T Kümpfel, M. Bahlo, DR Booth, SA Broadley, MA Brown, BL Browning, WM Carroll, MB Cox, C Chapman, G Clarke, P Dano. Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects: Figure 1. Journal of medical genetics, 49, 558-562, 2012. doi: 10.1136/jmedgenet-2012-101175.

  • Iris Tan, Leanne Mackin, Nancy Wang, A. Papenfuss, Colleen Elso, Michelle Ashton, Fiona Quirk, B. Phipson, M. Bahlo, T. Speed, G. Smyth, Grant Morahan, Thomas Brodnicki. Congenic mouse strains identify a novel gene for which allelic variation affects susceptibility to type 1 diabetes. Journal of Immunology, 186, 2011.

  • Borck, Ur Rehman, Lee, Pogoda, Kakar, von Amein, Grillet, MS Hildebrand, Ahmed, Nurnberg, Ansar, Basit, Javed, Morell, Nasreen, Shearer, Ahmad, Kahrizi, Shaikh, Ali, Khan, Goebel, Meyer, Kimberling, Webster, Stephan, Schiller, M. Bahlo, Najmabadi, Gillespie, Wollnik, Riazuddin, Smith, muller, Hammerschmidt, Friedman, Leal, Kubisch, Atteeq Ur Rehman, Simon von Ameln, Gudrun Nuernberg, Ulrich Mueller, G Nürnberg, U Müller. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. American Journal of Human Genetics, 88, 127-137, 2011. doi: 10.1016/j.ajhg.2010.12.011.

  • P. Hickey, M. Bahlo. X Chromosome Association Testing in Genome Wide Association Studies. Genetic Epidemiology, 35, 664-670, 2011. doi: 10.1002/gepi.20616.

  • K Smith, C. Bromhead, M Hildebrand, A Shearer, PJ Lockhart, H Najmabadi, RJ Leventer, G McGillivray, DJ Amor, M. Bahlo. Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes. Genome Biology, 12, R85 (9pp), 2011. doi: 10.1186/gb-2011-12-9-r85.

  • MA Corbett, M Schwake, M. Bahlo, LM Dibbens, M Lin, L. Gandolfo, D Vears, T Robertson, MA Bayly, A Gardner, AM Vlaar, G Korenke, BR Bloem, IF de Coo, JMA Verhagen, A Lehesjoki, J Gecz, S Berkovic, Irenaeus F de Coo. A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia. American Journal of Human Genetics, 88, 657-663, 2011. doi: 10.1016/j.ajhg.2011.04.011.

  • T Arsov, K Smith, J Damiano, S Franceschetti, L Canafoglia, C. Bromhead, E Andermann, D Vears, P Cossette, S Rajagopalan, A McDougall, V Sofia, M Farrell, U Aguglia, A Zini, S Meletti, M Morbin, S Mullen, S Mole, M. Bahlo, S Berkovic. Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6. American Journal of Human Genetics, 88, 566-573, 2011. doi: 10.1016/j.ajhg.2011.04.004.

  • J. Wang, DP Pappas, PLDJ De Jager, DP Pelletier, PIWDB de Bakker, LK Kappos, CHP Polman, LBC Chibnik, DAH Hafler, PMM Matthews, SLH Hauser, SEB Baranzini, JRO Oksenberg, HB Butzkueven, M. Bahlo, DR Booth, SA Broadley, MA Brown, SJ Foote, LR Griffiths, TJ Kilpatrick, J Lechner-Scott, P Moscato, VM Perreau, JP Rubio, J Stankovich, GJ Stewart, B. Taylor, J Wiley, P Danoy, M Slee, J Greer, A Kermode, W Carroll, Australian and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene). Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data. Genome Medicine: medicine in the post-genomic era, 3, 3 (11pp), 2011. doi: 10.1186/gm217.

  • Sara Ballouz, Jason Y Liu, Martin Oti, Bruno Gaeta, Diane Fatkin, M. Bahlo, Merridee A Wouters. Analysis of genome-wide association study data using the protein knowledge base.. BMC genetics, 12, 98 (20pp), 2011. doi: 10.1186/1471-2156-12-98.

  • Katherine R Smith, Vijayaprakash Suppiah, Thomas Berg, Martin Weltman, Maria Lorena Abate, Ulrich Spengler, Margaret Bassendine, Gail Matthews, William L Irving, Elizabeth Powell, Stephen Riordan, Golo Ahlenstiel, Graeme J Stewart, M. Bahlo, Jacob George, David R Booth, International Hepatitis C Genetics Consortium (IHCGC), J Nattermann, M Michalk, T Muller, B Malik, P McClure, E Snape, V Fragomeli, G Dore, D Sheridan, R Norris, D How-Chow, JR Jonsson, H Barrie, A Smedile, S Stelzer-Braid, S Fletcher, T Applegate, J Grebely, M Bharadwaj. Identification of improved IL28B SNPs and haplotypes for prediction of drug response in treatment of hepatitis C using massively parallel sequencing in a cross-sectional European cohort.. Genome medicine, 3, 57 (13pp), 2011. doi: 10.1186/gm273.

  • S Freeman, BV Taylor, H Butzkueven, SA Broadley, Australian and New Zealand MS Genetics Consortium (ANZgene), M. Bahlo, DR Booth, MA Brown, SJ Foote, LR Griffiths, TJ Kilpatrick, J Lechner-Scott, P Moscato, VM Perreau, J Stankovich, GJ Stewart, C Chapman, M Marriot, M Tanner, N Tubridy, J Wiley. Familial recurrence risks for multiple sclerosis in Australia.. Journal of neurology, neurosurgery, and psychiatry, 82, 1351-1354, 2011. doi: 10.1136/jnnp.2010.233064.

  • M. Ritchie, Ruijie Liu, Benilton S Carvalho, Rafael A Irizarry, Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene), M. Bahlo, DR Booth, SA Broadley, MA Brown, SJ Foote, LR Griffiths, TJ Kilpatrick, J Lechner-Scott, P Moscato, VM Perreau, JP Rubio, J Stankovich, GJ Stewart, BV Taylor, J Wiley, G Clarke, MB Cox, PA Csurhes, P Danoy, JL Dickinson, K Drysdale, J Field, JM Greer, P Guru, J Hadler, E Hoban, BJ McMorran, CJ Jensen, LJ Johnson, R McCallum, M Merriman, A Polanowski, K Pryce, L Tajouri, L Whittock, EJ Wilkins, BL Browning, D Perera, H Butzkueven, WM Carroll, C Chapman, AG Kermode, M Marriott, D. Mason, RN Heard, MP Pender, M Slee, N Tubridy, E Willoughby. Comparing genotyping algorithms for Illumina's Infinium whole-genome SNP BeadChips.. BMC bioinformatics, 12, 68 (12pp), 2011. doi: 10.1186/1471-2105-12-68.

  • Anneke Van der Walt, J Stankovich, M. Bahlo, BV Taylor, IAF Van der Mei, SJ Foote, JP Rubio, TJ Kilpatrick, H Butzkueven. Heterogeneity at the HLA-DRB1 allelic variation locus does not influence multiple sclerosis disease severity, brain atrophy or cognition.. Multiple sclerosis (Houndmills, Basingstoke, England), 17, 344-352, 2011. doi: 10.1177/1352458510389101.

  • P. Hickey, R. Huggins, M. Bahlo. X Chromosome Association Testing in Genome Wide Association Studies. Genetic Epidemiology, 34, 982 (1pp), 2010.

  • KT Tan, L Mackin, NW Wang, A. Papenfuss, C Elso, MPA Ashton, F Quirk, B. Phipson, M. Bahlo, T. Speed, G. Smyth, G Morahan, T Brodnicki. A recombination hotspot leads to sequence variability within a novel gene (AK005651) and contributes to type 1 diabetes susceptibility. Genome Research, 20, 1629-1638, 2010. doi: 10.1101/gr.101881.109.

  • EM Tegg, RJ Thomson, J Stankovich, A Banks, C Flowers, R McWhirter, J Panton, A Piaszczyk, M. Bahlo, KA Marsden, RM Lowenthal, SJ Foote, JL Dickinson. Evidence for a common genetic aetiology in high-risk families with multiple haematological malignancy subtypes. British Journal of Haematology, 150, 456-462, 2010. doi: 10.1111/j.1365-2141.2010.08267.x.

  • N Phasukkijwatana, B Kunhapan, J Stankovich, WL Chuenkongkaew, R Thomson, T Thornton, M. Bahlo, T Mushiroda, Y Nakamura, S Mahasirimongkol, AW Tun, C Srisawat, C Limwongse, C Peerapittayamongkol, T Sura, W Suthammarak, P Lertrit. Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand. Human Genetics, 128, 39-49, 2010. doi: 10.1007/s00439-010-0821-8.

  • Michael S Hildebrand, Kimia Kahrizi, Catherine J Bromhead, A Eliot Shearer, Jennifer A Webster, Hossein Khodaei, Rezvan Abtahi, Niloofar Bazazzadegan, Mojgan Babanejad, Nooshin Nikzat, William J Kimberling, Dietrich Stephan, Patrick LM Huygen, M. Bahlo, Richard JH Smith, Hossein Najmabadi. Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.. The Annals of otology, rhinology, and laryngology, 119, 830-835, 2010. doi: 10.1177/000348941011901207.

  • Michael S Hildebrand, Luke Gandolfo, A Eliot Shearer, Jennifer A Webster, Maren Jensen, William J Kimberling, Dietrich Stephan, Patrick LM Huygen, Richard JH Smith, M. Bahlo. A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.. The Laryngoscope, 120, 2489-2493, 2010. doi: 10.1002/lary.21159.

  • William S Stevenson, Craig D Hyland, Jian-Guo Zhang, Phillip O Morgan, Tracy A Willson, Anthony Gill, Adrienne A Hilton, Elizabeth M Viney, M. Bahlo, Seth L Masters, Sarah Hennebry, Samantha J Richardson, Nicos A Nicola, Donald Metcalf, Andrew W Roberts, Warren S Alexander. Deficiency of 5-hydroxyisourate hydrolase causes hepatomegaly and hepatocellular carcinoma in mice.. Proceedings of the National Academy of Sciences of the United States of America, 107, 16625-16630, 2010. doi: 10.1073/pnas.1010390107.

  • Lisa G Riley, Sandra Cooper, Peter Hickey, Joelle Rudinger-Thirion, Matthew McKenzie, Alison Compton, Sze Chern Lim, David Thorburn, Michael T Ryan, Richard Giege, M. Bahlo, John Christodoulou, Richard Giegé. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.. The American Journal of Human Genetics, 87, 52-59, 2010. doi: 10.1016/j.ajhg.2010.06.001.

  • Cathy J Jensen, Jim Stankovich, Anneke Van der Walt, M. Bahlo, Bruce V Taylor, Ingrid AF van der Mei, Simon J Foote, Trevor J Kilpatrick, Laura J Johnson, Ella Wilkins, Judith Field, Patrick Danoy, Matthew A Brown, Justin P Rubio, Helmut Butzkueven, Australian and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene), DR Booth, SA Broadley, BL Browning, WM Carroll, LR Griffiths, RN Heard, AG Kermode, J Lechner-Scott, P Moscato, VM Perreau, M Slee, GJ Stewart, J Wiley. Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients.. PloS one, 5, e10003 (7pp), 2010. doi: 10.1371/journal.pone.0010003.

  • MS Hildebrand, NP Thorne, CJ Bromhead, K Kahrizi, JA Webster, Z Fattahi, M Bataejad, WJ Kimberling, D Stephan, H Najmabadi, M. Bahlo, RJH Smith. Variable hearing impariment in a DFNB2 family with a novel MYO7A missense mutation. Clinical genetics, 77, 563-571, 2010. doi: 10.1111/j.1399-0004.2009.01344.x.

  • M. Bahlo, C. Bromhead. Generating linkage mapping files from Affymetrix SNP chip data. Bioinformatics, 25, 1961-1962, 2009. doi: 10.1093/bioinformatics/btp313.

  • Nicolas Grillet, Martin Schwander, Michael S Hildebrand, Anna Sczaniecka, Anand Kolatkar, Janice Velasco, Jennifer A Webster, Kimia Kahrizi, Hossein Najmabadi, William J Kimberling, Dietrich Stephan, M. Bahlo, Tim Wiltshire, Lisa M Tarantino, Peter Kuhn, Richard JH Smith, Ulrich Mueller, Ulrich Müller, U Muller. Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.. The American Journal of Human Genetics, 85, 328-337, 2009. doi: 10.1016/j.ajhg.2009.07.017.

  • A Eliot Shearer, Michael S Hildebrand, Jennifer A Webster, Kimia Kahrizi, Nicole C Meyer, Khadijeh Jalalvand, Sanaz Arzhanginy, William J Kimberling, Dietrich Stephan, M. Bahlo, Richard JH Smith, Hossein Najmabadi, S, STEPHEN. Mutations in the first MyTH4 domain ofMYO15Aare a common cause of DFNB3 hearing loss. The Laryngoscope, 119, 727-733, 2009. doi: 10.1002/lary.20116.

  • Kim L Powell, Stuart M Cain, Caroline Ng, Shreerang Sirdesai, Laurence S David, Mervyn Kyi, Esperanza Garcia, John R Tyson, Christopher A Reid, M. Bahlo, Simon J Foote, Terrance P Snutch. A Cav3.2 T-type calcium channel point mutation has splice-variant-specific effects on function and segregates with seizure expression in a polygenic rat model of absence epilepsy.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 29, 371-380, 2009. doi: 10.1523/JNEUROSCI.5295-08.2009.

  • Clare C Constantine, Greg J Anderson, Chris D Vulpe, Christine E McLaren, M. Bahlo, Heng Lin Yeap, Dorota M Gertig, Nicholas J Osborne, Nadine A Bertalli, Kenneth B Beckman, Victoria Chen, Pavel Matak, Andrew T McKie, Martin B Delatycki, John K Olynyk, Dallas R English, Melissa C Southey, Graham G Giles, John L Hopper, Katrina J Allen, Lyle C Gurrin. A novel association between a SNP inCYBRD1and serum ferritin levels in a cohort study ofHFEhereditary haemochromatosis. British journal of haematology, 147, 140-149, 2009. doi: 10.1111/j.1365-2141.2009.07843.x.

  • E Storey, M. Bahlo, M Fahey, O Sisson, CJ Lueck, RJM Gardner. A new dominantly inherited pure cerebellar ataxia, SCA 30.. Journal of neurology, neurosurgery, and psychiatry, 80, 408-411, 2009. doi: 10.1136/jnnp.2008.159459.

  • M. Bahlo, David R Booth, Simon A Broadley, Matthew A Brown, Simon J Foote, Lyn R Griffiths, Trevor J Kilpatrick, Jeanette Lechner-Scott, Pablo Moscato, Victoria M Perreau, Justin P Rubio, Jim Stankovich, Graeme J Stewart, Bruce V Taylor, James Wiley, Glynnis Clarke, Mathew B Cox, Peter A Csurhes, Patrick Danoy, Karen Drysdale, Judith Field, Judith M Greer, Preethi Guru, Johanna Hadler, Brendan J McMorran, Cathy J Jensen, Laura J Johnson, Ruth McCallum, Marilyn Merriman, Karen Pryce, Lotfi Tajouri, Ella J Wilkins, Brian L Browning, Devindri Perera, Helmut Butzkueven, William M Carroll, Caron Chapman, Allan G Kermode, Mark Marriott, D. Mason, Robert N Heard, Michael P Pender, Mark Slee, Niall Tubridy, Ernest Willoughby, Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene), E Hoban. Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.. Nature genetics, 41, 824-U84, 2009. doi: 10.1038/ng.396.

  • Ian J Majewski, Marnie E Blewitt, Carolyn A de Graaf, Edward J McManus, M. Bahlo, Adrienne A Hilton, Craig D Hyland, G. Smyth, Jason E Corbin, Donald Metcalf, Warren S Alexander. Polycomb repressive complex 2 (PRC2) restricts hematopoietic stem cell activity. PLoS Biology, 6, 796-809, 2008. doi: 10.1371/journal.pbio.0060093.

  • Samuel E Berkovic, Leanne M Dibbens, Alicia Oshlack, J. Silver, Marina Katerelos, Danya F Vears, Renate Luellmann-Rauch, Judith Blanz, Ke Wei Zhang, Jim Stankovich, Renate M Kalnins, John P Dowling, Eva Andermann, Enrico Faldini, Lata Vadlamudi, Richard A Macdonell, Bree L Hodgson, Marta A Bayly, Judy Savige, John C Mulley, G. Smyth, David A Power, Paul Saftig, M. Bahlo, R Lüllmann-Rauch. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. American Journal of Human Genetics, 82, 673-684, 2008. doi: 10.1016/j.ajhg.2007.12.019.

  • Arthur, Armati, Bye, T Kilpatrick, S Foote, H Butzkueven, B. Taylor, N Tubridy, M Marriott, J Stankovich, T. Speed, M. Bahlo, C Chapman, Heard, Stewart, Pollard, Booth, Southern MS Genetics Consortium. Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission.. BMC Medical Genetics, 9, 17-29, 2008. doi: 10.1186/1471-2350-9-17.

  • Husain, Yildirim-Toruner, Rubio, Field, N Tubridy, M Marriott, C Chapman, T Kilpatrick, B. Taylor, S Foote, H Butzkueven, M. Bahlo, T. Speed, J Stankovich, Schwalb, Cook, Devoto, Vitale, Southern MS Genetics Consortium. Variants of ST8SIA1 are associated with risk of developing multiple sclerosis. PLoS One, 3, e2653 (6pp), 2008. doi: 10.1371/journal.pone.0002653.

  • CA Albers, J Stankovich, R Thomson, M. Bahlo, HJ Kappen. Multipoint Approximations of Identity-by-Descent Probabilities for Accurate Linkage Analysis of Distantly Related Individuals. American Journal of Human Genetics, 82, 607-622, 2008. doi: 10.1016/j.ajhg.2007.12.016.

  • Michael S Hildebrand, D Coman, T. Yang, RJ Gardner, E Rose, RJ Smith, M. Bahlo, HH Dahl. A novel splice site mutation in EYA4 causes DFNA10 hearing loss (vol 143, pg 1599, 2007). American Journal of Medical Genetics. Part A, 146A, 1099 (1pp), 2008. doi: 10.1002/ajmg.a.32134.

  • Katrina J Allen, Lyle C Gurrin, Clare C Constantine, Nicholas J Osborne, Martin B Delatycki, Amanda J Nicoll, Christine E McLaren, M. Bahlo, Amy E Nisselle, Chris D Vulpe, Gregory J Anderson, Melissa C Southey, Graham G Giles, Dallas R English, John L Hopper, John K Olynyk, Lawrie W Powell, Dorota M Gertig, AJ Nicholl. Iron-overload-related disease in HFE hereditary hemochromatosis.. The New England journal of medicine, 358, 221-230, 2008. doi: 10.1056/NEJMoa073286.

  • Clare C Constantine, Lyle C Gurrin, Christine E McLaren, M. Bahlo, Gregory J Anderson, Chris D Vulpe, Susan M Forrest, Katrina J Allen, Dorota M Gertig, HealthIron Investigators, N OSBORNE, MB Delatycki, AJ Nicholl, AE Nisselle, M SOUTHEY, G Giles, D ENGLISH, J HOPPER, JK Olynyk, LW Powell. SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis.. BMC medical genetics, 9, 18 (11pp), 2008. doi: 10.1186/1471-2350-9-18.

  • RK Burfoot, CJ Jensen, J Field, J Stankovich, MD Varney, LJ Johnson, H Butzkueven, D Booth, M. Bahlo, BD Tait, BV Taylor, TP Speed, R Heard, GJ Stewart, SJ Foote, TJ Kilpatrick, JP Rubio. SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians.. Tissue antigens, 71, 42-50, 2008. doi: 10.1111/j.1399-0039.2007.00962.x.

  • JP Rubio, J Stankovich, J Field, N Tubridy, M Marriott, C Chapman, M. Bahlo, D Perera, LJ Johnson, BD Tait, MD Varney, TP Speed, BV Taylor, SJ Foote, H Butzkueven, TJ Kilpatrick. Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians.. Genes and immunity, 9, 624-630, 2008. doi: 10.1038/gene.2008.59.

  • SH Naik, P Sathe, HY Park, D Metcalf, AI Proietto, A Dakic, S Carotta, M. Bahlo, A. Papenfuss, JY Kwak, L Wu, K Shortman. Erratum: Development of plasmacytoid and conventional dendritic cell subtypes from single precursor cells derived in vitro and in vivo (Nature Immunology (2007) 10.1038/ni1522). Nature Immunology, 8, 2007.

  • Samuel F Berkovic, LM Dibbens, A Oshlack, JD Silver, M Katerelos, DF Vears, J Stankovich, E Andermann, BL Hodgson, MA Bayly, JC Mulley, G. Smyth, DA Power, M. Bahlo. Identification of the gene for action myoclonus-renal failure syndrome. EPILEPSIA, 48, 386 (1pp), 2007.

  • Kylle T Greig, Jennifer Antonchuk, Donald Metcalf, Phillip O Morgan, Danielle L Krebs, Jian-Guo Zhang, Douglas F Hacking, Lars Bode, Lorraine Robb, Christian Kranz, Carolyn de Graaf, M. Bahlo, Nicos A Nicola, Stephen L Nutt, Hudson H Freeze, Warren S Alexander, Douglas J Hilton, Benjamin T Kile. Agm1/Pgm3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development.. Molecular and cellular biology, 27, 5849-5859, 2007. doi: 10.1128/MCB.00802-07.

  • Justin P Rubio, M. Bahlo, Jim Stankovich, Rachel K Burfoot, Laura J Johnson, Stewart Huxtable, Helmut Butzkueven, Ling Lin, Bruce V Taylor, Terence P Speed, Trevor J Kilpatrick, Emmanuel Mignot, Simon J Foote. Analysis of extended HLA haplotypes in multiple sclerosis and narcolepsy families confirms a predisposing effect for the class I region in Tasmanian MS patients.. Immunogenetics, 59, 177-186, 2007. doi: 10.1007/s00251-006-0183-5.

  • Michael S Hildebrand, David Coman, Tao Yang, RJ McKinlay Gardner, Elizabeth Rose, Richard JH Smith, Melanie Bablo, Hans-Henrik M Dahl, M. Bahlo. A novel splice site mutation inEYA4 causes DFNA10 hearing loss. American journal of medical genetics. Part A, 143A, 1599-1604, 2007. doi: 10.1002/ajmg.a.31860.

  • Michael S Hildebrand, Michelle G de Silva, Tiong Yang Tan, Elizabeth Rose, Carla Nishimura, Tanya Tolmachova, Joanne M Hulett, Susan M White, Jeremy Silver, M. Bahlo, Richard JH Smith, Hans-Henrik M Dahl, YT Tiong. Molecular characterization of a novel x-linked syndrome involving developmental delay and deafness. American journal of medical genetics. Part A, 143A, 2564-2575, 2007. doi: 10.1002/ajmg.a.31995.

  • David J Amor, Hans-Henrik M Dahl, M. Bahlo, Agnes Bankier. Keipert syndrome (nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28. American journal of medical genetics. Part A, 143A, 2236-2241, 2007. doi: 10.1002/ajmg.a.31917.

  • Shalin H Naik, Priyanka Sathe, Hae-Young Park, Donald Metcalf, Anna I Proietto, A. DAKIC, Sebastian Carotta, M. Bahlo, A. Papenfuss, Jong-Young Kwak, Li Wu, Ken Shortman, Meredith O Keeffe. Development of plasmacytoid and conventional dendritic cell subtypes from single precursor cells derived in vitro and in vivo.. Nature immunology, 8, 1217-1226, 2007. doi: 10.1038/ni1522.

  • Enmoore Lin, Tony Pappenfuss, R. Tan, Danielle Senyschyn, M. Bahlo, T. Speed, Simon J Foote. Mapping of the Plasmodium chabaudi resistance locus char2. Infection and Immunity, 74, 5814-5819, 2006. doi: 10.1128/IAI.01690-05.

  • Michael S Hildebrand, Michelle G de Silva, RJ McKinlay Gardner, Elizabeth Rose, Carolyn A de Graaf, M. Bahlo, Hans-Henrik M Dahl. Cochlear implants for DFNA17 deafness.. The Laryngoscope, 116, 2211-2215, 2006. doi: 10.1097/01.mlg.0000242089.72880.f8.

  • SA Treloar, J Wicks, DR Nyholt, GW Montgomery, M. Bahlo, V Smith, G Dawson, IJ Mackay, DE Weeks, ST Bennett, A Carey, KR Ewen-White, DL Duffy, DH Barlow, NG Martin, SH Kennedy, Daniel T O’Connor. Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26. American Journal of Human Genetics, 77, 365-376, 2005. doi: 10.1086/432960.

  • Simon J Foote, Justin P Rubio, M. Bahlo, Trevor J Kilpatrick, Terence P Speed, Jim Stankovich, Rachel Burfoot, Helmut Butzkueven, Laura Johnson, Chris Wilkinson, Bruce Taylor, Michele Sale, Ingrid AF van der Mei, Joanne L Dickinson, Patricia Groom. Multiple sclerosis: a hapoltype association study. 267, 31-39, Wiley-VCH, 2005.

  • M. Bahlo, L. Xing, CR Wilkinson. HumanMSD and MouseMSD: Generating genetic maps for human and murine microsatellite markers. Bioinformatics, 20, 3280-3283, 2004. doi: 10.1093/bioinformatics/bth375.

  • JP Rubio, M. Bahlo, N Tubridy, J Stankovich, R Burfoot, H Butzkueven, C Chapman, L Johnson, M Marriott, G Mraz, B Tait, C Wilkinson, B Taylor, TP Speed, SJ Foote, TJ Kilpatrick. Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosis.. Human genetics, 114, 573-580, 2004. doi: 10.1007/s00439-004-1095-9.

  • MA Knight, RJ McKinlay Gardner, M. Bahlo, T Matsuura, JA Dixon, SM Forrest, E Storey. Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.. Brain : a journal of neurology, 127, 1172-1181, 2004. doi: 10.1093/brain/awh139.

  • M. Bahlo, R Thomson, T. Speed. Discussion. Australian and New Zealand Journal of Statistics, 45, 427-430, 2003.

  • P Banerjee, M. Bahlo, JR Schwartz, GG Loots, KA Houston, I Dubchak, T. Speed, EM Rubin. SNPs in putative regulatory regions identified by human mouse comparative sequencing and transcription factor binding site data. Mammalian Genome, 13, 554-557, 2002. doi: 10.1007/s00335-002-2169-4.

  • J Stankovich, MM Sale, HM Cooley, M. Bahlo, A Reilly, JL Dickinson, G Jones. Investigation of chromosome 2q in osteoarthritis of the hand: No significant linkage in a Tasmanian population. Annals of the Rheumatic Diseases, 61, 1081-1084, 2002. doi: 10.1136/ard.61.12.1081.

  • SB Harrap, ZYH Wong, M Stebbing, A Lamantia, M. Bahlo. Blood pressure QTLs identified by genome-wide linkage analysis and dependence on associated phenotypes.. Physiological genomics, 8, 99-105, 2002. doi: 10.1152/physiolgenomics.00069.2001.

  • SB Harrap, ZYH Wong, M Stebbing, A Lamantia, M. Bahlo. Blood pressure QTLs identified by genome-wide linkage analysis and dependence on associated phenotypes.. Physiological genomics, 8, 99-105, 2002. doi: 10.1152/physiolgenomics.00069.2001.

  • SB Harrap, KS Zammit, ZYH Wong, FM Williams, M. Bahlo, AM Tonkin, ST Anderson. Genome-wide linkage analysis of the acute coronary syndrome suggests a locus on chromosome 2.. Arteriosclerosis, thrombosis, and vascular biology, 22, 874-878, 2002. doi: 10.1161/01.ATV.0000016258.40568.F1.

  • MR Carpinelli, IP Wicks, NA Sims, K Hanzinikolas, R Burt, SJ Foote, M. Bahlo, WS Alexander, DJ Hilton. An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets.. The American journal of pathology, 161, 1925-1933, 2002. doi: 10.1016/S0002-9440(10)64468-9.

  • JP Rubio, M. Bahlo, H Butzkueven, IAF van der Mei, MM Sale, JL Dickinson, P Groom, LJ Johnson, RD Simmons, B Tait, M Varney, B Taylor, T Dwyer, R Williamson, NM Gough, TJ Kilpatrick, TP Speed, SJ Foote. Genetic dissection of the human leukocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosis.. The American Journal of Human Genetics, 70, 1125-1137, 2002. doi: 10.1086/339932.

  • M. Bahlo, RC Griffiths. Coalescence time for two genes from a subdivided population. Journal of Mathematical Biology, 43, 397-410, 2001. doi: 10.1007/s002850100104.

  • M. Bahlo, RC Griffiths, A Haase, M Stern, K Wächtler, G Bicker. A tissue-specific marker of Ecdysozoa. Development Genes and Evolution, 211, 428-433, 2001. doi: 10.1007/s004270100173.

  • K Elliott, E Fitzpatrick, D Hill, J Brown, S Adams, P Chee, G Stewart, D Fulcher, MM Tang, A Kemp, E King, G Varigos, M. Bahlo, S Forrest, D PHIL. The-590C/T and-34C/T interleukin-4 promoter polymorphisms are not associated with atopic eczema in childhood. The Journal of allergy and clinical immunology, 108, 285-287, 2001. doi: 10.1067/mai.2001.117180.

  • DF Levinson, KR Ewen, M. Bahlo, SA Treloar, B Mowry, JW Barlow, SJ Foote. Estimating genotyping error rate in a fine-mapping project. American Journal of Medical Genetics - Neuropsychiatric Genetics, 96, 570-571, 2000.

  • M. Bahlo, RC Griffiths. Inference from gene trees in a subdivided population. Theoretical Population Biology, 57, 79-95, 2000. doi: 10.1006/tpbi.1999.1447.

  • KR Ewen, M. Bahlo, SA Treloar, DF Levinson, B Mowry, JW Barlow, SJ Foote. Identification and analysis of error types in high-throughput genotyping. American Journal of Human Genetics, 67, 727-736, 2000. doi: 10.1086/303048.

  • M. Bahlo. The expected number of alleles in a gene conversion model with mutation. Theoretical Population Biology, 56, 265-277, 1999. doi: 10.1006/tpbi.1999.1418.

  • M. Bahlo. Segregating sites in a gene conversion model with mutation. Theoretical Population Biology, 54, 243-256, 1998. doi: 10.1006/tpbi.1998.1379.