Prof Melanie Bahlo

www.wehi.edu.au/people/melanie-bahlo

Professor Melanie Bahlo’s laboratory identifies the genetic causes of neurological disorders such as epilepsy and ataxia. The lab also conducts research on the genetic approaches for infectious diseases, working on both the human host and the pathogen, using population-based studies.

The lab develops novel methods for the analysis of these diseases, publishing methods and freely available software, which can be downloaded from https://github.com/bahlolab.

Twitter handle is @MelanieBahlo.

Find out more about Melanie Bahlo's experience

Melanie Bahlo's highlights

FEATURED Journal article

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

Melanie Bahlo's selected work

Hunting the genetic cause of stuttering

NEWS ARTICLE

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ..

Journal article

Recent advances in the detection of repeat expansions with short-read next-generation sequ..

Journal article

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndr..

Journal article

The Genetics of Epilepsy.

Journal article

Eukaryote-conserved methylarginine is absent in diplomonads and functionally compensated i..

Journal article

Scholarly Works

Displaying the 229 most recent scholarly works by Melanie Bahlo.

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes.

Maria Gisatulin, Valerija Dobricic, Christine Zühlke, Yorck Hellenbroich, Vera Tadic, Alexander Münchau, Klaus Isenhardt, Katrin Bürk, Melanie Bahlo, Paul J Lockhart, Katja Lohmann, Christoph Helmchen, Norbert Brüggemann

Journal article | 2020 | Neurology

OBJECTIVE: To determine the clinical significance of an intronic biallelic pentanucleotide repeat expansion in the gene encoding R..

The Genetics of Epilepsy.

Piero Perucca, Melanie Bahlo, Samuel F Berkovic

Journal article | 2020 | Annual Review of Genomics and Human Genetics

Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50 million people worldwide. Epilepsy may have ..

Eukaryote-conserved methylarginine is absent in diplomonads and functionally compensated in Giardia.

Samantha J Emery-Corbin, Joshua J Hamey, Brendan RE Ansell, Balu Balan, Swapnil Tichkule, Andreas J Stroehlein, Crystal Cooper, Bernie V McInerney, Soroor Hediyeh Zadeh, Daniel Vuong, Andrew Crombie, Ernest Lacey, Melissa J Davis, Marc R Wilkins, Melanie Bahlo, Staffan G Svärd, Robin B Gasser, Aaron R Jex

Journal article | 2020 | Molecular Biology and Evolution

Methylation is a common post-translational modification of arginine and lysine in eukaryotic proteins. Methylproteomes are best ch..

Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease

Roberto Bonelli, Sasha M Woods, Brendan RE Ansell, Tjebo FC Heeren, Catherine A Egan, Kamron N Khan, Robyn Guymer, Jennifer Trombley, Martin Friedlander, Melanie Bahlo, Marcus Fruttiger

Journal article | 2020 | Scientific Reports

Macular Telangiectasia type 2 (MacTel) is an uncommon bilateral retinal disease, in which glial cell and photoreceptor degeneratio..

Multiple sclerosis risk variants regulate gene expression in innate and adaptive immune cells

Melissa M Gresle, Margaret A Jordan, Jim Stankovich, Tim Spelman, Laura J Johnson, Louise Laverick, Alison Hamlett, Letitia D Smith, Vilija G Jokubaitis, Josephine Baker, Jodi Haartsen, Bruce Taylor, Jac Charlesworth, Melanie Bahlo, Terence P Speed, Matthew A Brown, Judith Field, Alan G Baxter, Helmut Butzkueven

Journal article | 2020 | Life Science Alliance

At least 200 single-nucleotide polymorphisms (SNPs) are associated with multiple sclerosis (MS) risk. A key function that could me..

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

Joanne M Hildebrand, Maria Kauppi, Ian J Majewski, Zikou Liu, Allison J Cox, Sanae Miyake, Emma J Petrie, Michael A Silk, Zhixiu Li, Maria C Tanzer, Gabriela Brumatti, Samuel N Young, Cathrine Hall, Sarah E Garnish, Jason Corbin, Michael D Stutz, Ladina Di Rago, Pradnya Gangatirkar, Emma C Josefsson, Kristin Rigbye, et al.

Journal article | 2020 | Nature Communications

MLKL is the essential effector of necroptosis, a form of programmed lytic cell death. We have isolated a mouse strain with a singl..

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation

Michael S Hildebrand, Victoria E Jackson, Thomas S Scerri, Olivia Van Reyk, Matthew Coleman, Ruth O Braden, Samantha Turner, Kristin A Rigbye, Amber Boys, Sarah Barton, Richard Webster, Michael Fahey, Kerryn Saunders, Bronwyn Parry-Fielder, Georgia Paxton, Michael Hayman, David Coman, Himanshu Goel, Anne Baxter, Alan Ma, et al.

Journal article | 2020 | Neurology

OBJECTIVE: Determining the genetic basis of speech disorders provides insight into the neurobiology of human communication. Despit..

Rapid Diagnosis of Spinocerebellar Ataxia 36 in a three-Generation Family Using Short-Read Whole-Genome Sequencing Data

Haloom Rafehi, David J Szmulewicz, Kate Pope, Mathew Wallis, John Christodoulou, Susan M White, Martin B Delatycki, Paul J Lockhart, Melanie Bahlo

Journal article | 2020 | Movement Disorders

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

Egor Dolzhenko, Mark F Bennett, Phillip A Richmond, Brett Trost, Sai Chen, Joke JFA van Vugt, Charlotte Nguyen, Giuseppe Narzisi, Vladimir G Gainullin, Andrew M Gross, Bryan R Lajoie, Ryan J Taft, Wyeth W Wasserman, Stephen W Scherer, Jan H Veldink, David R Bentley, Ryan KC Yuen, Melanie Bahlo, Michael A Eberle

Journal article | 2020 | Genome Biology

Repeat expansions are responsible for over 40 monogenic disorders, and undoubtedly more pathogenic repeat expansions remain to be ..

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

Mark F Bennett, Karen L Oliver, Brigid M Regan, Susannah T Bellows, Amy L Schneider, Haloom Rafehi, Neblina Sikta, Douglas E Crompton, Matthew Coleman, Michael S Hildebrand, Mark A Corbett, Thessa Kroes, Jozef Gecz, Ingrid E Scheffer, Samuel F Berkovic, Melanie Bahlo

Journal article | 2020 | European Journal of Human Genetics

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

Lynette G Sadleir, Guillem de Valles-Ibanez, Chontelle King, Matthew Coleman, Stuart Mossman, Sarah Paterson, John Nguyen, Samuel F Berkovic, Saul Mullen, Melanie Bahlo, Michael S Hildebrand, Heather C Mefford, Ingrid E Scheffer

Journal article | 2020 | Epilepsia

Variants in RORB have been reported in eight individuals with epilepsy, with phenotypes ranging from eyelid myoclonia with absence..

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

Carol Dobson-Stone, Marianne Hallupp, Hamideh Shahheydari, Audrey MG Ragagnin, Zac Chatterton, Francine Carew-Jones, Claire E Shepherd, Holly Stefen, Esmeralda Paric, Thomas Fath, Elizabeth M Thompson, Peter Blumbergs, Cathy L Short, Colin D Field, Peter K Panegyres, Jane Hecker, Garth Nicholson, Alex D Shaw, Janice M Fullerton, Agnes A Luty, et al.

Journal article | 2020 | Brain

Frontotemporal dementia and amyotrophic lateral sclerosis are clinically and pathologically overlapping disorders with shared gene..

Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania

Gavin Band, Quang Si Le, Geraldine M Clarke, Katja Kivinen, Christina Hubbart, Anna E Jeffreys, Kate Rowlands, Ellen M Leffler, Muminatou Jallow, David J Conway, Fatoumatta Sisay-Joof, Giorgio Sirugo, Umberto d'Alessandro, Ousmane B Toure, Mahamadou A Thera, Salimata Konate, Sibiri Sissoko, Valentina D Mangano, Edith C Bougouma, Sodiomon B Sirima, et al.

Journal article | 2019 | Nature Communications

Rapid diagnosis of SCA36 in a three-generation family using short-read whole genome sequencing data

Haloom Rafehi, David Szmulewicz, Kate Pope, Mathew Wallis, John Christodoulou, Susan White, Martin Delatycki, Paul Lockhart, Melanie Bahlo

Journal article | 2019

Abstract Background Spinocerebellar ataxias (SCA) are often caused by expansions of short tandem repeats (STRs). Recent methodolog..

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response

Jennifer L Johnson, Loredana Stoica, Yuwei Liu, Ping Jun Zhu, Abhisek Bhattacharya, Shelly A Buffington, Redwan Huq, N Tony Eissa, Ola Larsson, Bo T Porse, Deepti Domingo, Urwah Nawaz, Renee Carroll, Lachlan Jolly, Tom S Scerri, Hyung-Goo Kim, Amanda Brignell, Matthew J Coleman, Ruth Braden, Usha Kini, et al.

Journal article | 2019 | Neuron

In humans, disruption of nonsense-mediated decay (NMD) has been associated with neurodevelopmental disorders (NDDs) such as autism..

Cell type and cortex-specific RNA editing in single human neurons informs neuropsychiatric disorders

Brendan Robert Ansell, Simon Thomas, Jacob Munro, Saskia Freytag, Melanie Bahlo

Journal article | 2019

ABSTRACT Conversion of adenosine to inosine in RNA by ADAR enzymes occurs at thousands of sites in the human transcriptome, and is..

Characterization Of Focal And Generalized Epilepsy Polygenic Burden In 630,603 Individuals

C Leu, R Stevelink, A Smith, TG Richardson, SB Goleva, M Kanai, T Kaufmann, L Ferguson, M McCormack, C Campbell, R Krause, G Davey Smith, M Bahlo, Y Kamatani, Y Okada, F Cerrato, SM Sisodiya, L Jehi, GL Cavalleri, LK Davis, et al.

Conference Proceedings | 2019 | EPILEPSIA

Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia

Jamie W Sleigh, Kate Leslie, Andrew J Davidson, David J Amor, Peter Diakumis, Vesna Lukic, Paul J Lockhart, Melanie Bahlo

Journal article | 2019 | Anesthesiology

BACKGROUND: Intraoperative awareness with recall while under apparently adequate general anesthesia is a rare, unexplained, and of..

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

Kamal Khan, Michael Zech, Angela T Morgan, David J Amor, Matej Skorvanek, Tahir N Khan, Michael S Hildebrand, Victoria E Jackson, Thomas S Scerri, Matthew Coleman, Kristin A Rigbye, Ingrid E Scheffer, Melanie Bahlo, Matias Wagner, Daniel D Lam, Riccardo Berutti, Petra Havrankova, Anna Fecikova, Tim M Strom, Vladimir Han, et al.

Journal article | 2019 | Genetics in Medicine

PURPOSE: The purpose of this study was to expand the genetic architecture of neurodevelopmental disorders, and to characterize the..

Familial Adult Myoclonic Epilepsy, Caused By A Pentanucleotide Repeat TTTCA Insertion In SAMD12, In Indian And Sri Lankan Families Extends The Occurrence Of This Mutation To A Wide Region Of Southern Asia

MF Bennett, H Rafehi, KL Oliver, AL Schneider, BM Regan, ST Bellows, MA Corbett, T Kroes, J Gecz, MS Hildebrand, IE Scheffer, SF Berkovic, M Bahlo

Conference Proceedings | 2019 | EPILEPSIA

Repeat Expansion Disorders Enriched In An Australian And New Zealand Epi25 Year 1 Epilepsy Cohort

MF Bennett, RM Tankard, CA Bennett, AL Schneider, BM Regan, JA Damiano, MS Hildebrand, LG Sadleir, IE Scheffer, SF Berkovic, M Bahlo

Conference Proceedings | 2019 | EPILEPSIA

Polygenic burden in focal and generalized epilepsies.

Costin Leu, Remi Stevelink, Alexander W Smith, Slavina B Goleva, Masahiro Kanai, Lisa Ferguson, Ciaran Campbell, Yoichiro Kamatani, Yukinori Okada, Sanjay M Sisodiya, Gianpiero L Cavalleri, Bobby PC Koeleman, Holger Lerche, Lara Jehi, Lea K Davis, Imad M Najm, Aarno Palotie, Mark J Daly, Robyn M Busch, undefined Epi25 Consortium, et al.

Journal article | 2019 | Brain

Rare genetic variants can cause epilepsy, and genetic testing has been widely adopted for severe, paediatric-onset epilepsies. The..

International consensus on quality standards for brain health-focused care in multiple sclerosis.

Jeremy Hobart, Amy Bowen, George Pepper, Harriet Crofts, Lucy Eberhard, Thomas Berger, Alexey Boyko, Cavit Boz, Helmut Butzkueven, Elisabeth Gulowsen Celius, Jelena Drulovic, José Flores, Dana Horáková, Christine Lebrun-Frénay, Ruth Ann Marrie, James Overell, Fredrik Piehl, Peter Vestergaard Rasmussen, Maria José Sá, Carmen-Adella Sîrbu, et al.

Journal article | 2019 | Multiple Sclerosis Journal

BACKGROUND: Time matters in multiple sclerosis (MS). Irreversible neural damage and cell loss occur from disease onset. The MS com..

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, et al.

Journal article | 2019 | Nature Communications

Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and ..

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Rahel T Florian, Florian Kraft, Elsa Leitao, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kuehnel, Christopher Schroeder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, AnaiDe lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, et al.

Journal article | 2019 | Nature Communications

Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. In..

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy

Marin L Gantner, Kevin Eade, Martina Wallace, Michal K Handzlik, Regis Fallon, Jennifer Trombley, Roberto Bonelli, Sarah Giles, Sarah Harkins-Perry, Tjebo FC Heeren, Lydia Sauer, Yoichiro Ideguchi, Michelle Baldini, Lea Scheppke, Michael I Dorrell, Maki Kitano, Barbara J Hart, Carolyn Cai, Takayuki Nagasaki, Mehmet G Badur, et al.

Journal article | 2019 | New England Journal of Medicine

Intronic expansions of an ATTTC pentamer in the STARD7 gene underlie Familial Adult Myoclonic Epilepsy linked to chromosome 2 (FAME2)

J Gecz, Z Afawi, M Bahlo, MF Bennett, SF Berkovic, F Bisulli, F Brancati, L Canafoglia, G Casari, R van Coller, MA Corbett, D Crompton, C Depienne, R Guerrini, E Hirsch, M Klein, L Licchetta, A van den Maagdenberg, D Mei, T Pippucci, et al.

Conference Proceedings | 2019 | EUROPEAN JOURNAL OF HUMAN GENETICS

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Sophia R Cameron-Christie, Constance F Wells, Marleen Simon, Marja Wessels, Candy ZN Tang, Wenhua Wei, Riku Takei, Coranne Aarts-Tesselaar, Sarah Sandaradura, David O Sillence, Marie-Pierre Cordier, Hermine E Veenstra-Knol, Matteo Cassina, Kathrin Ludwig, Eva Trevisson, Melanie Bahlo, David M Markie, Zandra A Jenkins, Stephen P Robertson

Journal article | 2019 | The American Journal of Human Genetics

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.

Tyson L Ware, Shannon R Huskins, Bronwyn E Grinton, Yu-Chi Liu, Mark F Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos-Malikotsinas, Melanie Bahlo, Katherine B Howell, Michael S Hildebrand, John A Damiano, Alexander Rosenfeld, Mark T Mackay, Simone Mandelstam, Richard J Leventer, A Simon Harvey, Jeremy L Freeman, Ingrid E Scheffer, Dean L Jones, et al.

Journal article | 2019 | Epilepsia Open

We sought to determine incidence, etiologies, and yield of genetic testing in infantile onset developmental and epileptic encephal..

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder

Kiymet Bozaoglu, Yujing Gao, Edouard Stanley, Miriam Fanjul-Fernandez, Natasha J Brown, Kate Pope, Cherie C Green, Katerina Vlahos, Koula Sourris, Melanie Bahlo, Martin Delatycki, Ingrid Scheffer, Paul J Lockhart

Journal article | 2019 | Stem Cell Research

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen-Chen Anne Feng, Daniel P Howrigan, Liam E Abbott, Katherine Tashman, Felecia Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Erin L Heinzen, Ryan S Dhindsa, Kate E Stanley, Gianpiero L Cavalleri, Hakon Hakonarson, Ingo Helbig, Roland Krause, Patrick May, et al.

Journal article | 2019 | The American Journal of Human Genetics

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Haloom Rafehi, David J Szmulewicz, Mark F Bennett, Nara LM Sobreira, Kate Pope, Katherine R Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A Eberle, Maria Garcia Barcina, David P Breen, Andrew M Chancellor, Phillip D Cremer, Martin B Delatycki, Brent L Fogel, Anna Hackett, G Michael Halmagyi, Solange Kapetanovic, Anthony Lang, et al.

Journal article | 2019 | The American Journal of Human Genetics

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update

Sarah EM Stephenson, Ruth Djaldetti, Haloom Rafehi, Gabrielle R Wilson, Greta Gillies, Melanie Bahlo, Paul J Lockhart

Journal article | 2019 | Parkinsonism & Related Disorders

BACKGROUND: Bi-allelic mutations in PARK7 are a rare cause of autosomal recessive early onset Parkinson's disease (EO-PD). To date..

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development

Else Eising, Amaia Carrion-Castillo, Arianna Vino, Edythe A Strand, Kathy J Jakielski, Thomas S Scerri, Michael S Hildebrand, Richard Webster, Alan Ma, Bernard Mazoyer, Clyde Francks, Melanie Bahlo, Ingrid E Scheffer, Angela T Morgan, Lawrence D Shriberg, Simon E Fisher

Journal article | 2019 | Molecular Psychiatry

dtangle: accurate and robust cell type deconvolution

Gregory J Hunt, Saskia Freytag, Melanie Bahlo, Johann A Gagnon-Bartsch

Journal article | 2019 | Bioinformatics

The role of vitamin D and P2X7R in multiple sclerosis

Veronica Tsin Fong Voo, Terence O'Brien, Helmut Butzkueven, Mastura Monif

Journal article | 2019 | Journal of Neuroimmunology

Pathogenic Variants in GPC4 Cause Keipert Syndrome

David J Amor, Sarah EM Stephenson, Mirna Mustapha, Martin A Mensah, Charlotte W Ockeloen, Wei Shern Lee, Rick M Tankard, Dean G Phelan, Marwan Shinawi, Arjan PM de Brouwer, Rolph Pfundt, Cari Dowling, Tomi L Toler, V Reid Sutton, Emanuele Agolini, Martina Rinelli, Rossella Capolino, Diego Martinelli, Giuseppe Zampino, Miroslav Dumic, et al.

Journal article | 2019 | The American Journal of Human Genetics

Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2

Charlotte A Slade, Catriona McLean, Thomas Scerri, Binh Giang Tran, Steven Megaloudis, Alexander Strathmore, Jessica C Tempany, Katherine Nicholls, Colleen D'Arcy, Melanie Bahlo, Philip D Hodgkin, Jo A Douglass, Vanessa L Bryant

Journal article | 2019 | Journal of Clinical Immunology

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

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, Melanie Bahlo, Ingrid E Scheffer, Marcel E Dinger, Tony Roscioli

Journal article | 2019 | Human Mutation

Dorsal language stream anomalies in an inherited speech disorder

Frederique J Liegeois, Samantha J Turner, Angela Mayes, Alexandra F Bonthrone, Amber Boys, Libby Smith, Bronwyn Parry-Fielder, Simone Mandelstam, Megan Spencer-Smith, Melanie Bahlo, Tom S Scerri, Michael S Hildebrand, Ingrid E Scheffer, Alan Connelly, Angela T Morgan

Journal article | 2019 | Brain

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

Kevin T Booth, James W Askew, Zohreh Talebizadeh, Patrick LM Huygen, James Eudy, Judith Kenyon, Denise Hoover, Michael S Hildebrand, Katherine R Smith, Melanie Bahlo, William J Kimberling, Richard JH Smith, Hela Azaiez, Shelley D Smith

Journal article | 2019 | Genetics in Medicine

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

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, et al.

Journal article | 2019 | The Lancet Neurology

Incidence of pregnancy and disease-modifying therapy exposure trends in women with multiple sclerosis: A contemporary cohort study

Ai-Lan Nguyen, Eva Kubala Havrdova, Dana Horakova, Guillermo Izquierdo, Tomas Kalincik, Anneke van der Walt, Murat Terzi, Raed Alroughani, Pierre Duquette, Marc Girard, Alexandre Prat, Cavit Boz, Patrizia Sola, Diana Ferrara, Alessandra Lugaresi, Jeannette Lechner-Scott, Michael Barnett, Francois Grand'Maison, Pierre Grammond, Cristina Ramo-Tello, et al.

Journal article | 2019 | Multiple Sclerosis and Related Disorders

Association of Initial Disease-Modifying Therapy With Later Conversion to Secondary Progressive Multiple Sclerosis

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, Francois Grand'Maison, Murat Terzi, et al.

Journal article | 2019 | JAMA

Prognosticating autoimmune encephalitis: A systematic review

James Broadley, Udaya Seneviratne, Paul Beech, Katherine Buzzard, Helmut Butzkueven, Terence O'Brien, Mastura Monif

Journal article | 2019 | Journal of Autoimmunity

Multiple sclerosis registries in Europe - An updated mapping survey.

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, et al.

Journal article | 2019 | Multiple Sclerosis and Related Disorders

Comparison of clustering tools in R for medium-sized 10x Genomics single-cell RNA-sequencing data

Saskia Freytag, Luyi Tian, Ingrid Lönnstedt, Milica Ng, Melanie Bahlo

Journal article | 2018

Background: The commercially available 10x Genomics protocol to generate droplet-based single cell RNA-seq (scRNA-seq) data is en..

Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Maori family

Sophia R Cameron-Christie, Justin Wilde, Andrew Gray, Rick Tankard, Melanie Bahlo, David Markie, Helen M Evans, Stephen P Robertson

Journal article | 2018 | BMC Medical Genomics

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Bassel Abou-Khalil, Pauls Auce, Andreja Avbersek, Melanie Bahlo, David J Balding, Thomas Bast, Larry Baum, Albert J Becker, Felicitas Becker, Bianca Berghuis, Samuel F Berkovic, Katja E Boysen, Jonathan P Bradfield, Lawrence C Brody, Russell J Buono, Ellen Campbell, Gregory D Cascino, Claudia B Catarino, Gianpiero L Cavalleri, Stacey S Cherny, et al.

Journal article | 2018 | NATURE COMMUNICATIONS

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

Rick M Tankard, Mark E Bennett, Peter Degorski, Martin B Delatycki, Paul J Lockhart, Melanie Bahlo

Journal article | 2018 | The American Journal of Human Genetics

Assessment of Opicinumab in Acute Optic Neuritis Using Multifocal Visual Evoked Potential

Alexander Klistorner, Yi Chai, Letizia Leocani, Philipp Albrecht, Orhan Aktas, Helmut Butzkueven, Tjalf Ziemssen, Focke Ziemssen, Jette Frederiksen, Lei Xu, Diego Cadavid, Helmut Butzkueven, Ray Garrick, Ludo Vanopdenbosch, Giancarlo Comi, Bernardo Sanchez Dalmau, Magnus Andersson, Gordon T Plant, Tim Matthews, Graeme Williams

Journal article | 2018 | CNS Drugs

Cladribine versus fingolimod, natalizumab and interferon for multiple sclerosis

Tomas Kalincik, Vilija Jokubaitis, Tim Spelman, Dana Horakova, Eva Havrdova, Maria Trojano, Jeannette Lechner-Scott, Alessandra Lugaresi, Alexandre Prat, Marc Girard, Pierre Duquette, Pierre Grammond, Claudio Solaro, Francois Grand'Maison, Raymond Hupperts, Julie Prevost, Patrizia Sola, Diana Ferraro, Murat Terzi, Ernest Butler, et al.

Journal article | 2018 | MULTIPLE SCLEROSIS JOURNAL

SIS-seq, a molecular ‘time machine’, connects single cell fate with gene programs

Luyi Tian, Jaring Schreuder, Daniela Zalcenstein, Jessica Tran, Nikolce Kocovski, Shian Su, Peter Diakumis, Melanie Bahlo, Toby Sargeant, Phillip Hodgkin, Matthew Ritchie, Shalin Naik

Journal article | 2018

Abstract Conventional single cell RNA-seq methods are destructive, such that a given cell cannot also then be tested for fate and ..

Comparison of clustering tools in R for medium-sized 10x Genomics single-cell RNA-sequencing data

Saskia Freytag, Luyi Tian, Ingrid Lönnstedt, Milica Ng, Melanie Bahlo

Journal article | 2018 | F1000Research

Background: The commercially available 10x Genomics protocol to generate droplet-based single-cell RNA-seq (scRNA-seq) data is enj..

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

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, Melanie Bahlo, Norris R Dunn, Thomas J Carney, Paul J Lockhart, Barry J Coull, Maurice AM van Steensel

Journal article | 2018 | Human Molecular Genetics

Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy

Demet Kinay, Karen L Oliver, Erdem Tuzun, John A Damiano, Canan Ulusoy, Eva Andermann, Michael S Hildebrand, Melanie Bahlo, Samuel F Berkovic

Journal article | 2018 | Epilepsia

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3

Sophia R Cameron-Christie, Constance F Wells, Marleen Simon, Marja Wessels, Candy ZN Tang, Wenhua Wei, Riku Takei, Coranne Aarts-Tesselaar, Sarah Sandaradura, David O Sillence, Marie-Pierre Cordier, Hermine E Veenstra-Knol, Matteo Cassina, Kathrin Ludkig, Eva Trevisson, Melanie Bahlo, David M Markie, Zandra A Jenkins, Stephen P Robertson

Journal article | 2018 | The American Journal of Human Genetics

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)]

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

Journal article | 2018 | Multiple Sclerosis and Related Disorders

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

Erin L Heinzen, Adam C O'Neill, Xiaolin Zhu, Andrew S Allen, Melanie Bahlo, Jamel Chelly, Ming Hui Chen, William B Dobyns, Saskia Freytag, Renzo Guerrini, Richard J Leventer, Annapurna Poduri, Stephen P Robertson, Christopher A Walsh, Mengqi Zhang

Journal article | 2018 | PLOS Genetics

Identity-by-descent analyses for measuring population dynamics and selection in recombining pathogens

Lyndal Henden, Stuart Lee, Ivo Mueller, Alyssa Barry, Melanie Bahlo

Journal article | 2018 | PLOS Genetics

Siponimod versus placebo in secondary progressive multiple sclerosis (EXPAND): a double-blind, randomised, phase 3 study

Ludwig Kappos, Amit Bar-Or, Bruce AC Cree, Robert J Fox, Gavin Giovannoni, Ralf Gold, Patrick Vermersch, Douglas L Arnold, Sophie Arnould, Tatiana Scherz, Christian Wolf, Erik Wallstroem, Frank Dahlke

Journal article | 2018 | The Lancet

Increasingly inbred and fragmented populations of Plasmodium vivax associated with the eastward decline in malaria transmission across the Southwest Pacific

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, Melanie Bahlo, Ivo Mueller, Alyssa E Barry

Journal article | 2018 | PLOS Neglected Tropical Diseases

Comparison of clustering tools in R for medium-sized 10x Genomics single-cell RNA-sequencing data.

Saskia Freytag, Luyi Tian, Ingrid Lönnstedt, Milica Ng, Melanie Bahlo

Journal article | 2018 | F1000Research

Background: The commercially available 10x Genomics protocol to generate droplet-based single cell RNA-seq (scRNA-seq) data is enj..

Lymphocyte count in peripheral blood is not associated with the level of clinical response to treatment with fingolimod

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

Journal article | 2018 | Multiple Sclerosis and Related Disorders

Evaluation of pregnancy outcomes in patients with multiple sclerosis after fingolimod exposure

Y Geissbühler, J Vile, G Koren, M Guennec, H Butzkueven, H Tilson, TM MacDonald, K Hellwig

Journal article | 2018 | Therapeutic Advances in Neurological Disorders

Different patterns of longitudinal brain and spinal cord changes and their associations with disability progression in NMO and MS

Yaou Liu, Yunyun Duan, Jing Huang, Zhuoqiong Ren, Zheng Liu, Huiqing Dong, Florian Weiler, Horst K Hahn, Fu-Dong Shi, Helmut Butzkueven, Frederik Barkhof, Kuncheng Li

Journal article | 2018 | European Radiology

Recent advances in the detection of repeat expansions with short-read next-generation sequencing.

Melanie Bahlo, Mark F Bennett, Peter Degorski, Rick M Tankard, Martin B Delatycki, Paul J Lockhart

Journal article | 2018 | F1000Research

Short tandem repeats (STRs), also known as microsatellites, are commonly defined as consisting of tandemly repeated nucleotide mot..

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay

Kenneth A Myers, Mark F Bennett, Chung W Chow, Susan M Carden, Simone A Mandelstam, Melanie Bahlo, Ingrid E Scheffer

Journal article | 2018 | American Journal of Medical Genetics Part A

Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14

Chloe Stutterd, Peter Diakumis, Melanie Bahlo, Miriam Fanjul Fernandez, Richard J Leventer, Martin Delatycki, David Amor, Chung W Chow, Sarah Stephenson, Miriam H Meisler, Catriona Mclean, Paul J Lockhart

Journal article | 2017 | Annals of Clinical and Translational Neurology

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

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, et al.

Journal article | 2017 | The American Journal of Human Genetics

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations

Mark A Corbett, Samantha J Turner, Alison Gardner, Jeremy Silver, Jim Stankovich, Richard J Leventer, Christopher P Derry, Renee Carroll, Thuong Ha, Ingrid E Scheffer, Melanie Bahlo, Graeme D Jackson, David A Mackey, Samuel F Berkovic, Jozef Gecz

Journal article | 2017 | European Journal of Medical Genetics

Detecting tandem repeat expansions in cohorts sequenced with short-read sequencing data

Rick Tankard, Mark Bennett, Peter Degorski, Martin Delatycki, Paul Lockhart, Melanie Bahlo

Journal article | 2017

Abstract Repeat expansions cause over 30, predominantly neurogenetic, inherited disorders. These can present with overlapping clin..

brain-coX: investigating and visualising gene co-expression in seven human brain transcriptomic datasets

Saskia Freytag, Rosemary Burgess, Karen L Oliver, Melanie Bahlo

Journal article | 2017 | Genome Medicine

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

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, et al.

Journal article | 2017 | Nature Genetics

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

Martina Skopkova, Friederike Hennig, Byung-Sik Shin, Clesson E Turner, Daniela Stanikova, Katarina Brennerova, Juraj Stanik, Ute Fischer, Lyndal Henden, Ulrich Mueller, Daniela Steinberger, Esther Leshinsky-Silver, Armand Bottani, Timea Kurdiova, Jozef Ukropec, Olga Nyitrayova, Miriam Kolnikova, Iwar Klimes, Guntram Borck, Melanie Bahlo, et al.

Journal article | 2017 | Human Mutation

Genome-wide analyses identify common variants associated with macular telangiectasia type 2

Thomas S Scerri, Anna Quaglieri, Carolyn Cai, Jana Zernant, Nori Matsunami, Lisa Baird, Lea Scheppke, Roberto Bonelli, Lawrence A Yannuzzi, Martin Friedlander, Catherine A Egan, Marcus Fruttiger, Mark Leppert, Rando Allikmets, Melanie Bahlo

Journal article | 2017 | Nature Genetics

HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: A genotype-stratified cohort study of hemochromatosis in Australian women

Charles D Warne, Sophie G Zaloumis, Nadine A Bertalli, Martin B Delatycki, Amanda J Nicoll, Christine E McLaren, John L Hopper, Graham G Giles, Greg J Anderson, John K Olynyk, Lawrie W Powell, Katrina J Allen, Lyle C Gurrin

Journal article | 2017 | Journal of Gastroenterology and Hepatology

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders

Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, Tony Roscioli, David R Thorburn, Kristina Prelog, Melanie Bahlo, Carolyn M Sue, Shanti Balasubramaniam, John Christodoulou

Journal article | 2017 | Journal of Inherited Metabolic Disease

SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood

Sara Kivity, Karen L Oliver, Zaid Afawi, John A Damiano, Todor Arsov, Melanie Bahlo, Samuel F Berkovic

Journal article | 2017 | Epilepsy Research

Heterozygous mutations in HISD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency

David J Amor, Ashley P Marsh, Elsdon Storey, Rick Tankard, Greta Gillies, Martin B Delatycki, Kate Pope, Catherine Bromhead, Richard J Leventer, Melanie Bahlo, Paul J Lockhart

Journal article | 2016 | NEUROLOGY-GENETICS

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

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, Melanie Bahlo, Samuel F Berkovic, Steven Petrou, Ingrid E Scheffer, Jozef Gecz

Journal article | 2016 | NEUROLOGY

Early neuroimaging markers of FOXP2 intragenic deletion

Frederique J Liegeois, Michael S Hildebrand, Alexandra Bonthrone, Samantha J Turner, Ingrid E Scheffer, Melanie Bahlo, Alan Connelly, Angela T Morgan

Journal article | 2016 | SCIENTIFIC REPORTS

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2

Lyndal 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, et al.

Journal article | 2016 | Human Genetics

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)

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, Melanie Bahlo, Michael M Cheung, David J Amor, David A Elliott, Paul J Lockhart

Journal article | 2016 | European Heart Journal

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

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, Melanie Bahlo, Katherine R Smith, Maxime Cadieux-Dion, Patrick Cossette, Ivana Jedlickova, Anna Pristoupilova, Sara E Mole

Journal article | 2016 | NEUROLOGY

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

Lyndal Henden, David Wakeham, Melanie Bahlo

Journal article | 2016 | Bioinformatics

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

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, et al.

Journal article | 2016 | The American Journal of Human Genetics

Multiplex families with epilepsy Success of clinical and molecular genetic characterization

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, et al.

Journal article | 2016 | NEUROLOGY

In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery

Karen L Oliver, Vesna Lukic, Saskia Freytag, Ingrid E Scheffer, Samuel F Berkovic, Melanie Bahlo

Journal article | 2016 | Neurology Genetics

Mitochondrial Genome Sequence of the Scabies Mite Provides Insight into the Genetic Diversity of Individual Scabies Infections

Ehtesham Mofiz, Torsten Seemann, Melanie Bahlo, Deborah Holt, Bart J Currie, Katja Fischer, Anthony T Papenfuss

Journal article | 2016 | PLOS NEGLECTED TROPICAL DISEASES

Structurally conserved erythrocyte-binding domain in Plasmodium provides a versatile scaffold for alternate receptor engagement

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, Melanie Bahlo, Ivo Mueller, Alyssa E Barry, Wai-Hong Tham

Journal article | 2016 | Proceedings of the National Academy of Sciences

Familial Cortical Dysplasia Caused by Mutation in the Mammalian Target of Rapamycin Regulator NPRL3

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, Melanie Bahlo, Paul J Lockhart, Richard J Leventer

Journal article | 2016 | Annals of Neurology

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

Saskia Freytag, Johann Gagnon-Bartsch, Terence P Speed, Melanie Bahlo

Journal article | 2015 | BMC Bioinformatics

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

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, Melanie Bahlo, Luba Kalaydjieva, Ivailo Tournev

Journal article | 2015 | Neuromuscular Disorders

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

John A Damiano, Zaid Afawi, Melanie Bahlo, Monika Mauermann, Adel Misk, Todor Arsov, Karen L Oliver, Hans-Henrik M Dahl, A Eliot Shearer, Richard JH Smith, Nathan E Hall, Khalid Mahmood, Richard J Leventer, Ingrid E Scheffer, Mikko Muona, Anna-Elina Lehesjoki, Amos D Korczyn, Harald Herrmann, Samuel F Berkovic, Michael S Hildebrand

Journal article | 2015 | Human Molecular Genetics

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

Michael S Hildebrand, Rick Tankard, Elena V Gazina, John A Damiano, Kate M Lawrence, Hans-Henrik M Dahl, Brigid M Regan, Aiden Eliot Shearer, Richard JH Smith, Carla Marini, Renzo Guerrini, Angelo Labate, Antonio Gambardella, Paolo Tinuper, Laura Lichetta, Sara Baldassari, Francesca Bisulli, Tommaso Pippucci, Ingrid E Scheffer, Christopher A Reid, et al.

Journal article | 2015 | Annals of Clinical and Translational Neurology

Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome

Lynette G Sadleir, Sarah Paterson, Katherine R Smith, Natalie Redshaw, Annemarei Ranta, Renate Kalnins, Samuel F Berkovic, Melanie Bahlo, Michael S Hildebrand, Ingrid E Scheffer

Journal article | 2015 | Epilepsy Research

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

Ashley PL Marsh, Vesna Lukic, Kate Pope, Catherine Bromhead, Rick Tankard, Monique M Ryan, Eppie M Yiu, Joe CH Sim, Martin B Delarycki, David J Amor, George McGillivray, Elliott H Sherr, Melanie Bahlo, Richard J Leventer, Paul J Lockhart

Journal article | 2015 | NEUROLOGY-GENETICS

Cpipe: a shared variant detection pipeline designed for diagnostic settings

Simon P Sadedin, Harriet Dashnow, Paul A James, Melanie 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

Journal article | 2015 | Genome Medicine

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

Dineika Chandrananda, Natalie P Thorne, Melanie Bahlo

Journal article | 2015 | BMC Medical Genomics

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome

Marie Shaw, Tzu Ying Yap, Lyndal Henden, Melanie Bahlo, Alison Gardner, Vera M Kalscheuer, Eric Haan, Louise Christie, Anna Hackett, Jozef Gecz

Journal article | 2015 | European Journal of Medical Genetics

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR

Richard J Leventer, Thomas Scerri, Ashley PL Marsh, Kate Pope, Greta Gillies, Wirginia Maixner, Duncan MacGregor, A Simon Harvey, Martin B Delatycki, David J Amor, Peter Crino, Melanie Bahlo, Paul J Lockhart

Journal article | 2015 | Neurology

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

Thomas Scerri, Jessica R Riseley, Greta Gillies, Kate Pope, Rosemary Burgess, Simone A Mandelstam, Leanne Dibbens, Chung W Chow, Wirginia Maixner, Anthony Simon Harvey, Graeme D Jackson, David J Amor, Martin B Delatycki, Peter B Crino, Samuel F Berkovic, Ingrid E Scheffer, Melanie Bahlo, Paul J Lockhart, Richard J Leventer

Journal article | 2015 | ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

Comparison of Switch to Fingolimod or Interferon Beta/Glatiramer Acetate in Active Multiple Sclerosis

Anna He, Tim Spelman, Vilija Jokubaitis, Eva Havrdova, Dana Horakova, Maria Trojano, Alessandra Lugaresi, Guillermo Izquierdo, Pierre Grammond, Pierre Duquette, Marc Girard, Eugenio Pucci, Gerardo Iuliano, Raed Alroughani, Celia Oreja-Guevara, Ricardo Fernandez-Bolanos, Francois Grand'Maison, Patrizia Sola, Daniele Spitaleri, Franco Granella, et al.

Journal article | 2015 | JAMA NEUROLOGY

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder

Raman Kumar, Mark A Corbett, Nicholas JC Smith, Lachlan A Jolly, Chuan Tan, Damien J Keating, Michael D Duffield, Toshihiko Utsumi, Koko Moriya, Katherine R Smith, Alexander Hoischen, Kim Abbott, Michael G Harbord, Alison G Compton, Joshua A Woenig, Peer Arts, Michael Kwint, Nienke Wieskamp, Sabine Gijsen, Joris A Veltman, et al.

Journal article | 2015 | Human Molecular Genetics

Plasmodium vivax Populations Are More Genetically Diverse and Less Structured than Sympatric Plasmodium falciparum Populations

Charlie Jennison, Alicia Arnott, Natacha Tessier, Livingstone Tavul, Cristian Koepfli, Ingrid Felger, Peter M Siba, John C Reeder, Melanie Bahlo, Ivo Mueller, Alyssa E Barry

Journal article | 2015 | PLOS NEGLECTED TROPICAL DISEASES

Natural history of HFE simple heterozygosity for C282Y and H63D: A prospective 12-year study

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

Journal article | 2015 | JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1

Stefanie Eggers, Katherine R Smith, Melanie Bahlo, Leendert HJ Looijenga, Stenvert LS Drop, Zulfa A Juniarto, Vincent R Harley, Peter Koopman, Sultana MH Faradz, Andrew H Sinclair

Journal article | 2015 | European Journal of Human Genetics

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with alpha-Synuclein Pathology

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, Catherine J Bromhead, David S Wargowski, Christopher H Lawrence, Paul A James, Andrew Churchyard, Yujing Gao, Dean G Phelan, Greta Gillies, et al.

Journal article | 2014 | The American Journal of Human Genetics

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

Melanie Bahlo, Rick Tankard, Vesna Lukic, Karen L Oliver, Katherine R Smith

Journal article | 2014 | Human Genetics

Maturity-onset diabetes of the young type 5 in a family with diabetes and mild kidney disease diagnosed by whole exome sequencing

JM Wentworth, V Lukic, M Bahlo, M Finlay, C Nguyen, G Morahan, LC Harrison

Journal article | 2014 | Internal Medicine Journal

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Davor Lessel, Bruno Vaz, Swagata Halder, Paul J Lockhart, 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, et al.

Journal article | 2014 | Nature Genetics

Dating Rare Mutations from Small Samples with Dense Marker Data

Luke C Gandolfo, Melanie Bahlo, Terence P Speed

Journal article | 2014 | Genetics

Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy

Katherine R Smith, Richard J Leventer, Mark T Mackay, Kate Pope, Greta Gillies, Martin B Delatycki, David J Amor, Melanie Bahlo, Paul J Lockhart

Journal article | 2014 | International Journal of Stroke

Use of Copy Number Deletion Polymorphisms to Assess DNA Chimerism

Damien L Bruno, Devika Ganesamoorthy, Natalie P Thorne, Ling Ling, Melanie Bahlo, Sue Forrest, Marieke Veenendaal, Marina Katerelos, Alison Skene, Frank L Ierino, David A Power, Howard R Slater

Journal article | 2014 | Clinical Chemistry

Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes

Karen L Oliver, Vesna Lukic, Natalie P Thorne, Samuel F Berkovic, Ingrid E Scheffer, Melanie Bahlo

Journal article | 2014 | PLOS ONE

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J Kaiser, Morad Ansari, Diana Braunholz, Maria Concepcion Gil-Rodriguez, Christophe Decroos, Jonathan J Wilde, Christopher T Fincher, Maninder Kaur, Masashige Bando, David J Amor, Paldeep S Atwal, Melanie Bahlo, Christine M Bowman, Jacquelyn J Bradley, Han G Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs, et al.

Journal article | 2014 | Human Molecular Genetics

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

Gabrielle R Wilson, Jasmine Sunley, Katherine R Smith, Kate Pope, Catherine J Bromhead, Elizabeth Fitzpatrick, Maja Di Rocco, Maurice van Steensel, David J Coman, Richard J Leventer, Martin B Delatycki, David J Amor, Melanie Bahlo, Paul J Lockhart

Journal article | 2014 | European Journal of Human Genetics

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

Sze Chern Lim, Katherine R Smith, David A Stroud, Alison G Compton, Elena J Tucker, Ayan Dasvarma, Luke C Gandolfo, Justine E Marum, Matthew McKenzie, Heidi L Peters, David Mowat, Peter G Procopis, Bridget Wilcken, John Christodoulou, Garry K Brown, Michael T Ryan, Melanie Bahlo, David R Thorburn

Journal article | 2014 | American Journal of Human Genetics

Investigating and Correcting Plasma DNA Sequencing Coverage Bias to Enhance Aneuploidy Discovery

Dineika Chandrananda, Natalie P Thorne, Devika Ganesamoorthy, Damien L Bruno, Yuval Benjamini, Terence P Speed, Howard R Slater, Melanie Bahlo

Journal article | 2014 | PLoS One

Candidate disease gene prediction using Gentrepid: application to a genome-wide association study on coronary artery disease.

Sara Ballouz, Jason Y Liu, Martin Oti, Bruno Gaeta, Diane Fatkin, Melanie Bahlo, Merridee A Wouters

Journal article | 2014 | Molecular Genetics & Genomic Medicine

Current single-locus-based analyses and candidate disease gene prediction methodologies used in genome-wide association studies (G..

Fine-Mapping the Genetic Association of the Major Histocompatibility Complex in Multiple Sclerosis: HLA and Non-HLA Effects

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, Bruce V Taylor, Stephen Sawcer, David A Hafler, Mary Carrington, Philip L De Jager, Paul IW De Bakker

Journal article | 2013 | PLoS Genetics

GFI1B mutation causes a bleeding disorder with abnormal platelet function

WS Stevenson, M-C Morel-Kopp, Q Chen, HP Liang, CJ Bromhead, S Wright, R Turakulov, AP Ng, AW Roberts, M Bahlo, CM Ward

Journal article | 2013 | Journal of Thrombosis and Haemostasis

Small Intragenic Deletion in FOXP2 Associated With Childhood Apraxia of Speech and Dysarthria

Samantha J Turner, Michael S Hildebrand, Susan Block, John Damiano, Michael Fahey, Sheena Reilly, Melanie Bahlo, Ingrid E Scheffer, Angela T Morgan

Journal article | 2013 | American Journal of Medical Genetics. Part A

Challenges of diagnostic exome sequencing in an inbred founder population.

Dimitar N Azmanov, Teodora Chamova, Rick Tankard, Vladimir Gelev, Michael Bynevelt, Laura Florez, Dochka Tzoneva, Dora Zlatareva, Velina Guergueltcheva, Melanie Bahlo, Ivailo Tournev, Luba Kalaydjieva

Journal article | 2013 | Molecular Genetics & Genomic Medicine

Exome sequencing was used as a diagnostic tool in a Roma/Gypsy family with three subjects (one deceased) affected by lissencephaly..

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

Lysa Boisse Lomax, Marta A Bayly, Helle Hjalgrim, Rikke S Moller, Annemarie M Vlaar, Kari M Aaberg, Iris Marquardt, Luke C Gandolfo, Michel Willemsen, Erik-Jan Kamsteeg, John D O'Sullivan, G Christoph Korenke, Bastiaan R Bloem, Irenaeus F de Coo, Judith MA Verhagen, Ines Said, Trine Prescott, Asbjorg Stray-Pedersen, Magnhild Rasmussen, Danya F Vears, et al.

Journal article | 2013 | BRAIN

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Katherine R Smith, Hans-Henrik M Dahl, Laura Canafoglia, Eva Andermann, John Damiano, Michela Morbin, Amalia C Bruni, Giorgio Giaccone, Patrick Cossette, Paul Saftig, Joachim Groetzinger, Michael Schwake, Frederick Andermann, John F Staropoli, Katherine B Sims, Sara E Mole, Silvana Franceschetti, Noreen A Alexander, Jonathan D Cooper, Harold A Chapman, et al.

Journal article | 2013 | HUMAN MOLECULAR GENETICS

Autosomal dominant vasovagal syncope Clinical features and linkage to chromosome 15q26

Karl Martin Klein, Catherine J Bromhead, Katherine R Smith, Christopher J O'Callaghan, Susan J Corcoran, Sarah E Heron, Xenia Iona, Bree L Hodgson, Jacinta M McMahon, Kate M Lawrence, Ingrid E Scheffer, Leanne M Dibbens, Melanie Bahlo, Samuel F Berkovic

Journal article | 2013 | Neurology

Identity-by-Descent Mapping to Detect Rare Variants Conferring Susceptibility to Multiple Sclerosis

Rui Lin, Jac Charlesworth, Jim Stankovich, Victoria M Perreau, Matthew A Brown, Bruce V Taylor

Journal article | 2013 | PLoS One

An alpha-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer

Ian J Majewski, Irma Kluijt, Annemieke Cats, Thomas S Scerri, Daphne de Jong, Roelof JC Kluin, Samantha Hansford, Frans BL Hogervorst, Astrid J Bosma, Ingrid Hofland, Marcel Winter, David Huntsman, Jos Jonkers, Melanie Bahlo, Rene Bernards

Journal article | 2013 | Journal of Pathology

'North Sea' Progressive Myoclonus Epilepsy: Phenotype of Subjects with GOSR2 Mutation

Lysa Boisse Lomax, Marta Bayly, Helle Hjalgrim, Rikke Moller, Anna Maria Vlaar, Kari Aaberg, Iris Marquardt, Luke Gandolfo, Michel Willemsen, Erik-Jan Kamsteeg, John O'Sullivan, G Korenke, Bastiaan Bloem, Ireneaus De Coo, Judith Verhagen, Ines Said, Trine Prescott, Asbjorg Stray-Pedersen, Magnhild Rasmussen, Danya Vears, et al.

Conference Proceedings | 2013 | NEUROLOGY

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

Sarah E Heron, Katherine R Smith, Melanie Bahlo, Lino Nobili, Esther Kahana, Laura Licchetta, Karen L Oliver, Aziz Mazarib, Zaid Afawi, Amos Korczyn, Giuseppe Plazzi, Steven Petrou, Samuel F Berkovic, Ingrid E Scheffer, Leanne M Dibbens

Journal article | 2012 | Nature Genetics

Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

Velina Guergueltcheva, Dimitar N Azmanov, Dora Angelicheva, Katherine R Smith, Teodora Chamova, Laura Florez, Michael Bynevelt, Nguyen Thai, Sylvia Cherninkova, Veneta Bojinova, Ara Kaprelyan, Lyudmila Angelova, Bharti Morar, David Chandler, Radka Kaneva, Melanie Bahlo, Ivailo Tournev, Luba Kalaydjieva

Journal article | 2012 | American Journal of Human Genetics

Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects

Christina M Lill, Tian 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, et al.

Journal article | 2012 | JOURNAL OF MEDICAL GENETICS

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Katherine R Smith, John Damiano, Silvana Franceschetti, Stirling Carpenter, Laura Canafoglia, Michela Morbin, Giacomina Rossi, Davide Pareyson, Sara E Mole, John F Staropoli, Katherine B Sims, Jada Lewis, Wen-Lang Lin, Dennis W Dickson, Hans-Henrik Dahl, Melanie Bahlo, Samuel F Berkovic

Journal article | 2012 | AMERICAN JOURNAL OF HUMAN GENETICS

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

Dillon W Leong, Jasper C Komen, Chelsee A Hewitt, Estelle Arnaud, Matthew McKenzie, Belinda Phipson, Melanie Bahlo, Adrienne Laskowski, Sarah A Kinkel, Gayle M Davey, William R Heath, Anne K Voss, Rene P Zahedi, James J Pitt, Roman Chrast, Albert Sickmann, Michael T Ryan, Gordon K Smyth, David R Thorburn, Hamish S Scott

Journal article | 2012 | Journal of Biological Chemistry

Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells

Emily C Oates, Stephen Reddel, Michael L Rodriguez, Luke C Gandolfo, Melanie Bahlo, Simon H Hawke, Shireen R Lamande, Nigel F Clarke, Kathryn N North

Journal article | 2012 | Brain

Familial Adult Myoclonic Epilepsy Recognition of Mild Phenotypes and Refinement of the 2q Locus

Douglas E Crompton, Lynette G Sadleir, Catherine J Bromhead, Melanie Bahlo, Susannah T Bellows, Todor Arsov, Rosemary Harty, Kate M Lawrence, John W Dunne, Samuel F Berkovic, Ingrid E Scheffer

Journal article | 2012 | Archives of Neurology

Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci

Nikolaos A Patsopoulos, Paul IW de Bakker

Journal article | 2011 | Annals of Neurology

Familial recurrence risks for multiple sclerosis in Australia

C O'Gorman, S Freeman, BV Taylor, H Butzkueven, SA Broadley

Journal article | 2011 | Journal of Neurology, Neurosurgery and Psychiatry

Analysis of genome-wide association study data using the protein knowledge base

Sara Ballouz, Jason Y Liu, Martin Oti, Bruno Gaeta, Diane Fatkin, Melanie Bahlo, Merridee A Wouters

Journal article | 2011 | BMC Genetics

X Chromosome Association Testing in Genome Wide Association Studies

Peter F Hickey, Melanie Bahlo

Journal article | 2011 | Genetic Epidemiology

An ENU-Induced Mutation of Cdh23 Causes Congenital Hearing Loss, but No Vestibular Dysfunction, in Mice

Shehnaaz SM Manji, Kerry A Miller, Louise H Williams, Lotte Andreasen, Maria Siboe, Elizabeth Rose, Melanie Bahlo, Michael Kuiper, Hans-Henrik M Dahl

Journal article | 2011 | American Journal of Pathology

A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia

Mark A Corbett, Michael Schwake, Melanie Bahlo, Leanne M Dibbens, Meng Lin, Luke C Gandolfo, Danya F Vears, John D O'Sullivan, Thomas Robertson, Marta A Bayly, Alison E Gardner, Annemarie M Vlaar, G Christoph Korenke, Bastiaan R Bloem, Irenaeus F de Coo, Judith MA Verhagen, Anna-Elina Lehesjoki, Jozef Gecz, Samuel F Berkovic

Journal article | 2011 | American Journal of Human Genetics

Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

Todor Arsov, Katherine R Smith, John Damiano, Silvana Franceschetti, Laura Canafoglia, Catherine J Bromhead, Eva Andermann, Danya F Vears, Patrick Cossette, Sulekha Rajagopalan, Alan McDougall, Vito Sofia, Michael Farrell, Umberto Aguglia, Andrea Zini, Stefano Meletti, Michela Morbin, Saul Mullen, Frederick Andermann, Sara E Mole, et al.

Journal article | 2011 | American Journal of Human Genetics

Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

Pleasantine Mill, Paul J Lockhart, Elizabeth Fitzpatrick, Hayley S Mountford, Emma A Hall, Martin AM Reijns, Margaret Keighren, Melanie Bahlo, Catherine J Bromhead, Peter Budd, Salim Aftimos, Martin B Delatycki, Ravi Savarirayan, Ian J Jackson, David J Amor

Journal article | 2011 | American Journal of Human Genetics

A Mutation in Synaptojanin 2 Causes Progressive Hearing Loss in the ENU-Mutagenised Mouse Strain Mozart

Shehnaaz SM Manji, Louise H Williams, Kerry A Miller, Lisa M Ooms, Melanie Bahlo, Christina A Mitchell, Hans-Henrik M Dahl

Journal article | 2011 | PLOS ONE

Comparing genotyping algorithms for Illumina's Infinium whole-genome SNP BeadChips

Matthew E Ritchie, Ruijie Liu, Benilton S Carvalho, Rafael A Irizarry

Journal article | 2011 | BMC BIOINFORMATICS

Heterogeneity at the HLA-DRB1 allelic variation locus does not influence multiple sclerosis disease severity, brain atrophy or cognition

Anneke Van der Walt, J Stankovich, M Bahlo, BV Taylor, IAF Van der Mei, SJ Foote, JP Rubio, TJ Kilpatrick, H Butzkueven

Journal article | 2011 | Multiple Sclerosis

Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, Hans-Martin Pogoda, Naseebullah Kakar, Simon von Ameln, Nicolas Grillet, Michael S Hildebrand, Zubair M Ahmed, Gudrun Nuernberg, Muhammad Ansar, Sulman Basit, Qamar Javed, Robert J Morell, Nabilah Nasreen, A Eliot Shearer, Adeel Ahmad, Kimia Kahrizi, Rehan S Shaikh, Rana A Ali, et al.

Journal article | 2011 | American Journal of Human Genetics

Polymorphisms in the Receptor Tyrosine Kinase MERTK Gene Are Associated with Multiple Sclerosis Susceptibility

Gerry ZM Ma, Jim Stankovich, Trevor J Kilpatrick, Michele D Binder, Judith Field

Journal article | 2011 | PLOS ONE

Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data

Joanne H Wang, Derek Pappas, Philip L De Jager, Daniel Pelletier, Paul IW de Bakker, Ludwig Kappos, Chris H Polman, Lori B Chibnik, David A Hafler, Paul M Matthews, Stephen L Hauser, Sergio E Baranzini, Jorge R Oksenberg

Journal article | 2011 | Genome Medicine: medicine in the post-genomic era

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

Katherine R Smith, Vijayaprakash Suppiah, Kate O'Connor, 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, Melanie Bahlo, Jacob George, David R Booth

Journal article | 2011 | Genome Medicine

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

Katherine R Smith, Catherine J Bromhead, Michael S Hildebrand, A Eliot Shearer, Paul J Lockhart, Hossein Najmabadi, Richard J Leventer, George McGillivray, David J Amor, Richard J Smith, Melanie Bahlo

Journal article | 2011 | Genome Biology

A Novel Mutation in COCH-Implications for Genotype-Phenotype Correlations in DFNA9 Hearing Loss

Michael S Hildebrand, Luke Gandolfo, A Eliot Shearer, Jennifer A Webster, Maren Jensen, William J Kimberling, Dietrich Stephan, Patrick LM Huygen, Richard JH Smith, Melanie Bahlo

Journal article | 2010 | Laryngoscope

Mutations in TMC1 Are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population

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, Melanie Bahlo, Richard JH Smith, Hossein Najmabadi

Journal article | 2010 | Annals of Otology, Rhinology and Laryngology

A recombination hotspot leads to sequence variability within a novel gene (AK005651) and contributes to type 1 diabetes susceptibility

Iris KL Tan, Leanne Mackin, Nancy Wang, Anthony T Papenfuss, Colleen M Elso, Michelle P Ashton, Fiona Quirk, Belinda Phipson, Melanie Bahlo, Terence P Speed, Gordon K Smyth, Grant Morahan, Thomas C Brodnicki

Journal article | 2010 | Genome Research

A Polymorphism in the HLA-DPB1 Gene Is Associated with Susceptibility to Multiple Sclerosis

Judith Field, Sharon R Browning, Laura J Johnson, Patrick Danoy, Michael D Varney, Brian D Tait, Kaushal S Gandhi, Jac C Charlesworth, Robert N Heard, Graeme J Stewart, Trevor J Kilpatrick, Simon J Foote, Melanie Bahlo, Helmut Butzkueven, James Wiley, David R Booth, Bruce V Taylor, Matthew A Brown, Justin P Rubio, Jim Stankovich

Journal article | 2010 | PLOS ONE

Deficiency of 5-hydroxyisourate hydrolase causes hepatomegaly and hepatocellular carcinoma in mice

William S Stevenson, Craig D Hyland, Jian-Guo Zhang, Phillip O Morgan, Tracy A Willson, Anthony Gill, Adrienne A Hilton, Elizabeth M Viney, Melanie Bahlo, Seth L Masters, Sarah Hennebry, Samantha J Richardson, Nicos A Nicola, Donald Metcalf, Douglas J Hilton, Andrew W Roberts, Warren S Alexander

Journal article | 2010 | Proceedings of the National Academy of Sciences of the United States of America

A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

Mark A Corbett, Melanie Bahlo, Lachlan Jolly, Zaid Afawi, Alison E Gardner, Karen L Oliver, Stanley Tan, Amy Coffey, John C Mulley, Leanne M Dibbens, Walid Simri, Adel Shalata, Sara Kivity, Graeme D Jackson, Samuel F Berkovic, Jozef Gecz

Journal article | 2010 | American Journal of Human Genetics

Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age

Lidija Turkovic, Lyle C Gurrin, Melanie Bahlo, Gillian S Dite, Melissa C Southey, John L Hopper

Journal article | 2010 | BMC Cancer

Evidence for a common genetic aetiology in high-risk families with multiple haematological malignancy subtypes

Elizabeth M Tegg, Russell J Thomson, Jim Stankovich, Annette Banks, Ceri Flowers, Rebekah McWhirter, Jean Panton, Anne Piaszczyk, Melanie Bahlo, Katherine A Marsden, Ray M Lowenthal, Simon J Foote, Joanne L Dickinson

Journal article | 2010 | British Journal of Haematology

A family history of a haematological malignancy (HM) is known to be a risk factor for HMs. However, collections of large families ..

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA Syndrome

Lisa G Riley, Sandra Cooper, Peter Hickey, Joelle Rudinger-Thirion, Matthew McKenzie, Alison Compton, Sze Chern Lim, David Thorburn, Michael T Ryan, Richard Giege, Melanie Bahlo, John Christodoulou

Journal article | 2010 | American Journal of Human Genetics

Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand

Nopasak Phasukkijwatana, Bussaraporn Kunhapan, Jim Stankovich, Wanicha L Chuenkongkaew, Russell Thomson, Timothy Thornton, Melanie Bahlo, Taisei Mushiroda, Yusuke Nakamura, Surakameth Mahasirimongkol, Aung Win Tun, Chatchawan Srisawat, Chanin Limwongse, Chayanon Peerapittayamongkol, Thanyachai Sura, Wichit Suthammarak, Patcharee Lertrit

Journal article | 2010 | Human Genetics

Leber hereditary optic neuropathy (LHON) is the most common mitochondrially inherited disease causing blindness, preferentially in..

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation

MS Hildebrand, NP Thorne, CJ Bromhead, K Kahrizi, JA Webster, Z Fattahi, M Bataejad, WJ Kimberling, D Stephan, H Najmabadi, M Bahlo, RJH Smith

Journal article | 2010 | Clinical Genetics

Multiple Sclerosis Susceptibility-Associated SNPs Do Not Influence Disease Severity Measures in a Cohort of Australian MS Patients

Cathy J Jensen, Jim Stankovich, Anneke Van der Walt, Melanie 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

Journal article | 2010 | PLOS ONE

Saliva-Derived DNA Performs Well in Large-Scale, High-Density Single-Nucleotide Polymorphism Microarray Studies

Melanie Bahlo, Jim Stankovich, Patrick Danoy, Peter F Hickey, Bruce V Taylor, Sharon R Browning, Matthew A Brown, Justin P Rubio

Journal article | 2010 | Cancer Epidemiology, Biomarkers & Prevention

The Tasmanian Devil Transcriptome Reveals Schwann Cell Origins of a Clonally Transmissible Cancer

Elizabeth P Murchison, Cesar Tovar, Arthur Hsu, Hannah S Bender, Pouya Kheradpour, Clare A Rebbeck, David Obendorf, Carly Conlan, Melanie Bahlo, Catherine A Blizzard, Stephen Pyecroft, Alexandre Kreiss, Manolis Kellis, Alexander Stark, Timothy T Harkins, Jennifer A Marshall Graves, Gregory M Woods, Gregory J Hannon, Anthony T Papenfuss

Journal article | 2010 | Science

IL28B is associated with response to chronic hepatitis C interferon-alpha and ribavirin therapy

Vijayaprakash Suppiah, Max Moldovan, Golo Ahlenstiel, Thomas Berg, Martin Weltman, Maria Lorena Abate, Margaret Bassendine, Ulrich Spengler, Gregory J Dore, Elizabeth Powell, Stephen Riordan, David Sheridan, Antonina Smedile, Vincenzo Fragomeli, Tobias Mueller, Melanie Bahlo, Graeme J Stewart, David R Booth, Jacob George

Journal article | 2009 | Nature Genetics

A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis

Clare C Constantine, Greg J Anderson, Chris D Vulpe, Christine E McLaren, Melanie 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, et al.

Journal article | 2009 | British Journal of Haematology

Apolipoprotein genotype does not influence MS severity, cognition, or brain atrophy

A van der Walt, J Stankovich, M Bahlo, BV Taylor, IAF van der Mei, SJ Foote, TJ Kilpatrick, JP Rubio, H Butzkueven

Journal article | 2009 | Neurology

Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans

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, Melanie Bahlo, Tim Wiltshire, Lisa M Tarantino, Peter Kuhn, Richard JH Smith, Ulrich Mueller

Journal article | 2009 | American Journal of Human Genetics

Generating linkage mapping files from Affymetrix SNP chip data

M Bahlo, CJ Bromhead

Journal article | 2009 | Bioinformatics

SUMMARY: LINKDATAGEN is a perl tool that generates linkage mapping input files for five different linkage mapping tools using data..

Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20

Melanie 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, Rodney J Scott, Jim Stankovich, Graeme J Stewart, Bruce V Taylor, James Wiley, Glynnis Clarke, Mathew B Cox, Peter A Csurhes, Patrick Danoy, et al.

Journal article | 2009 | NATURE GENETICS

Mutations in the First MyTH4 Domain of MY015A Are a Common Cause of DFNB3 Hearing Loss

A Eliot Shearer, Michael S Hildebrand, Jennifer A Webster, Kimia Kahrizi, Nicole C Meyer, Khadijeh Jalalvand, Sanaz Arzhanginy, William J Kimberling, Dietrich Stephan, Melanie Bahlo, Richard JH Smith, Hossein Najmabadi

Journal article | 2009 | Laryngoscope

A new dominantly inherited pure cerebellar ataxia, SCA 30

E Storey, M Bahlo, M Fahey, O Sisson, CJ Lueck, RJM Gardner

Journal article | 2009 | Journal of Neurology, Neurosurgery and Psychiatry

A Novel Splice Site Mutation in the RDX Gene Causes DFNB24 Hearing Loss in an Iranian Family

A Eliot Shearer, Michael S Hildebrand, Catherine J Bromhead, Kimia Kahrizi, Jennifer A Webster, Batool Azadeh, William J Kimberling, Ali Anousheh, Arash Nazeri, Dietrich Stephan, Hossein Najmabadi, Richard JH Smith, Melanie Bahlo

Journal article | 2009 | American Journal of Medical Genetics. Part A

A Ca(v)3.2 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

Kim L Powell, Stuart M Cain, Caroline Ng, Shreerang Sirdesai, Laurence S David, Mervyn Kyi, Esperanza Garcia, John R Tyson, Christopher A Reid, Melanie Bahlo, Simon J Foote, Terrance P Snutch, Terence J O'Brien

Journal article | 2009 | Journal of Neuroscience

Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians

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

Journal article | 2008 | Genes and Immunity

A Mouse Model of Harlequin Ichthyosis Delineates a Key Role for Abca12 in Lipid Homeostasis

Ian Smyth, Douglas F Hacking, Adrienne A Hilton, Nigora Mukhamedova, Peter J Meikle, Sarah Ellis, Keith Slattery, Janelle E Collinge, Carolyn A de Graaf, Melanie Bahlo, Dmitri Sviridov, Benjamin T Kile, Douglas J Hilton

Journal article | 2008 | PLoS Genet.

Variants of ST8SIA1 Are Associated with Risk of Developing Multiple Sclerosis

Seema Husain, Cagri Yildirim-Toruner, Justin P Rubio, Judith Field, Marvin Schwalb, Stuart Cook, Marcella Devoto, Emilia Vitale

Journal article | 2008 | PLOS ONE

A novel splice site mutation in EYA4 causes DFNA10 hearing loss (vol 143, pg 1599, 2007)

Michael S Hildebrand, D Coman, T Yang, RJ Gardner, E Rose, RJ Smith, M Bahlo, HH Dahl

Journal article | 2008 | American Journal of Medical Genetics Part A

Polycomb repressive complex 2 (PRC2) restricts hematopoietic stem cell activity

Ian J Majewski, Marnie E Blewitt, Carolyn A de Graaf, Edward J McManus, Melanie Bahlo, Adrienne A Hilton, Craig D Hyland, Gordon K Smyth, Jason E Corbin, Donald Metcalf, Warren S Alexander, Douglas J Hilton

Journal article | 2008 | PLoS Biology

SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis

Clare C Constantine, Lyle C Gurrin, Christine E McLaren, Melanie Bahlo, Gregory J Anderson, Chris D Vulpe, Susan M Forrest, Katrina J Allen, Dorota M Gertig

Journal article | 2008 | BMC MEDICAL GENETICS

Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission

Ariel T Arthur, Patricia J Armati, Chris Bye, Robert NS Heard, Graeme J Stewart, John D Pollard, David R Booth

Journal article | 2008 | BMC MEDICAL GENETICS

Multipoint approximations of identity-by-descent probabilities for accurate linkage analysis of distantly related individuals

Cornelis A Albers, Jim Stankovich, Russell Thomson, Melanie Bahlo, Hilbert J Kappen

Journal article | 2008 | The American Journal of Human Genetics

We propose an analytical approximation method for the estimation of multipoint identity by descent (IBD) probabilities in pedigree..

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

Samuel E Berkovic, Leanne M Dibbens, Alicia Oshlack, Jeremy D Silver, Marina Katerelos, Danya F Vears, Renate Luellmann-Rauch, Judith Blanz, Ke Wei Zhang, Jim Stankovich, Renate M Kalnins, John P Dowling, Eva Andermann, Frederick Andermann, Enrico Faldini, Rudi D'Hooge, Lata Vadlamudi, Richard A Macdonell, Bree L Hodgson, Marta A Bayly, et al.

Journal article | 2008 | American Journal of Human Genetics

Iron-overload-related disease in HFE hereditary hemochromatosis

Katrina J Allen, Lyle C Gurrin, Clare C Constantine, Nicholas J Osborne, Martin B Delatycki, Amanda J Nicoll, Christine E McLaren, Melanie 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

Journal article | 2008 | New England Journal of Medicine

SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians

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

Journal article | 2008 | Tissue Antigens

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)

SH Naik, P Sathe, HY Park, D Metcalf, AI Proietto, A Dakic, S Carotta, M O'Keeffe, M Bahlo, A Papenfuss, JY Kwak, L Wu, K Shortman

Journal article | 2007 | Nature Immunology

Molecular characterization of a novel x-linked syndrome involving developmental delay and deafness

Michael S Hildebrand, Michelle G de Silva, Tiong Yang Tan, Elizabeth Rose, Carla Nishimura, Tanya Tolmachova, Joanne M Hulett, Susan M White, Jeremy Silver, Melanie Bahlo, Richard JH Smith, Hans-Henrik M Dahl

Journal article | 2007 | American Journal of Medical Genetics

Development of plasmacytoid and conventional dendritic cell subtypes from single precursor cells derived in vitro and in vivo

Shalin H Naik, Priyanka Sathe, Hae-Young Park, Donald Metcalf, Anna I Proietto, Aleksander Dakic, Sebastian Carotta, Meredith O'Keeffe, Melanie Bahlo, Anthony Papenfuss, Jong-Young Kwak, Li Wu, Ken Shortman

Journal article | 2007 | Nature Immunology

Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28

David J Amor, Hans-Henrik M Dahl, Melanie Bahlo, Agnes Bankier

Journal article | 2007 | American Journal of Medical Genetics

Agm1/Pgm-3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development

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, Melanie Bahlo, Nicos A Nicola, Stephen L Nutt, Hudson H Freeze, Warren S Alexander, Douglas J Hilton, Benjamin T Kile

Journal article | 2007 | Molecular and Cellular Biology

A novel splice site mutation in EYA4 causes DFNA10 hearing loss

Michael S Hildebrand, David Coman, Tao Yang, RJ McKinlay Gardner, Elizabeth Rose, Richard JH Smith, Melanie Bablo, Hans-Henrik M Dahl

Journal article | 2007 | American Journal of Medical Genetics

The advantages of dense marker sets for linkage analysis with very large families

Russell Thomson, Stephen Quinn, James McKay, Jeremy Silver, Melanie Bahlo, Liesel FitzGerald, Simon Foote, Jo Dickinson, Jim Stankovich

Journal article | 2007 | Human Genetics

Analysis of extended HLA haplotypes in multiple sclerosis and narcolepsy families confirms a predisposing effect for the class I region in Tasmanian MS patients

Justin P Rubio, Melanie 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

Journal article | 2007 | Immunogenetics

Probabilistic analysis of recessive mutagenesis screen strategies

Jeremy D Silver, Douglas J Hilton, Melanie Bahlo, Benjamin T Kile

Journal article | 2007 | Mammalian Genome

Cochlear implants for DFNA17 deafness

Michael S Hildebrand, Michelle G de Silva, RJ McKinlay Gardner, Elizabeth Rose, Carolyn A de Graaf, Melanie Bahlo, Hans-Henrik M Dahl

Journal article | 2006 | Laryngoscope

Mapping of the Plasmodium chabaudi resistance locus char2

Enmoore Lin, Tony Pappenfuss, Rachel B Tan, Danielle Senyschyn, Melanie Bahlo, Terence P Speed, Simon J Foote

Journal article | 2006 | Infection and Immunity

Detecting genome wide haplotype sharing using SNP or microsatellite haplotype data

M Bahlo, J Stankovich, TP Speed, JP Rubio, RK Burfoot, SJ Foote

Journal article | 2006 | Human Genetics

On the utility of data from the International HapMap Project for Australian association studies

J Stankovich, CJ Cox, RB Tan, DS Montgomery, SJ Huxtable, JP Rubio, MG Ehm, L Johnson, H Butzkueven, TJ Kilpatrick, TP Speed, AD Roses, M Bahlo, SJ Foote

Journal article | 2006 | Human Genetics

A novel X-linked form of congenital fiber-type disproportion

NF Clarke, RLL Smith, M Bahlo, KN North

Journal article | 2005 | Annals of Neurology

Gene expression and genotyping studies implicate the interleukin 7 receptor in the pathogenesis of primary progressive multiple sclerosis

DR Booth, AT Arthur, SM Teutsch, C Bye, J Rubio, PJ Armati, JD Pollard, RNS Heard, GJ Stewart

Journal article | 2005 | Journal of Molecular Medicine

Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26

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, DT O'Connor, DH Barlow, NG Martin, SH Kennedy

Journal article | 2005 | The American Journal of Human Genetics

Endometriosis is a common gynecological disease that affects up to 10% of women in their reproductive years. It causes pelvic pain..

Identifying nineteenth century genealogical links from genotypes

J Stankovich, M Bahlo, JP Rubio, CR Wilkinson, R Thomson, A Banks, M Ring, SJ Foote, TP Speed

Journal article | 2005 | Human Genetics

Multiple sclerosis: a haplotype association study.

Simon J Foote, Justin P Rubio, Melanie 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

Book Chapter | 2005 | Novartis Foundation symposium

Results are presented from a genomewide haplotype association study on multiple sclerosis (MS) cases from Tasmania, an island stat..

HumanMSD and MouseMSD: generating genetic maps for human and murine microsatellite markers

M Bahlo, L Xing, CR Wilkinson

Journal article | 2004 | Bioinformatics

We present two Web interfaces that generate genetic maps for given sets of human or mouse microsatellite markers. The genetic maps..

Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20

MA Knight, RJ McKinlay Gardner, M Bahlo, T Matsuura, JA Dixon, SM Forrest, E Storey

Journal article | 2004 | Brain

Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosis

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

Journal article | 2004 | Human Genetics

Discussion

M Bahlo, R Thomson, T Speed

Journal article | 2003 | Australian and New Zealand Journal of Statistics

Investigation of chromosome 2q in osteoarthritis of the hand: no significant linkage in a Tasmanian population.

J Stankovich, MM Sale, HM Cooley, M Bahlo, A Reilly, JL Dickinson, G Jones

Journal article | 2002 | Annals of the Rheumatic Diseases

BACKGROUND: Previous studies have suggested a strong genetic component to osteoarthritis (OA), especially that of the hand, and th..

An ethyl-nitrosourea-induced point mutation in Phex causes exon skipping, X-linked hypophosphatemia, and rickets

MR Carpinelli, IP Wicks, NA Sims, K O'Donnell, K Hanzinikolas, R Burt, SJ Foote, M Bahlo, WS Alexander, DJ Hilton

Journal article | 2002 | American Journal of Pathology

SNPs in putative regulatory regions identified by human mouse comparative sequencing and transcription factor binding site data

P Banerjee, M Bahlo, JR Schwartz, GG Loots, KA Houston, I Dubchak, TP Speed, EM Rubin

Journal article | 2002 | Mammalian Genome

Genetic dissection of the human leukocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosis

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

Journal article | 2002 | American Journal of Human Genetics

Genome-wide linkage analysis of the acute coronary syndrome suggests a locus on chromosome 2

SB Harrap, KS Zammit, ZYH Wong, FM Williams, M Bahlo, AM Tonkin, ST Anderson

Journal article | 2002 | Arteriosclerosis Thrombosis and Vascular Biology

Blood pressure QTLs identified by genome-wide linkage analysis and dependence on associated phenotypes

SB Harrap, ZYH Wong, M Stebbing, A Lamantia, M Bahlo

Journal article | 2002 | Physiological Genomics

Blood pressure QTLs identified by genome-wide linkage analysis and dependence on associated phenotypes.

SB Harrap, ZYH Wong, M Stebbing, A Lamantia, M Bahlo

Journal article | 2002 | Physiological genomics

Coalescence time for two genes from a subdivided population.

M Bahlo, RC Griffiths

Journal article | 2001 | Journal of Mathematical Biology

In this paper a new form of the solution for the Laplace transform and moments of the distribution of the waiting time for two gen..

A tissue-specific marker of Ecdysozoa.

A Haase, M Stern, K Wächtler, G Bicker

Journal article | 2001 | Development Genes and Evolution

Over the past few years, molecular studies of phylogeny have challenged the traditional view of evolutionary relationships among p..

The-590C/T and-34C/T interleukin-4 promoter polymorphisms are not associated with atopic eczema in childhood

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

Journal article | 2001 | Journal of Allergy and Clinical Immunology

Identification and analysis of error types in high-throughput genotyping

KR Ewen, M Bahlo, SA Treloar, DF Levinson, B Mowry, JW Barlow, SJ Foote

Journal article | 2000 | The American Journal of Human Genetics

Although it is clear that errors in genotyping data can lead to severe errors in linkage analysis, there is as yet no consensus st..

Estimating genotyping error rate in a fine-mapping project

DF Levinson, KR Ewen, M Bahlo, SA Treloar, B Mowry, JW Barlow, SJ Foote

Journal article | 2000 | American Journal of Medical Genetics - Neuropsychiatric Genetics

The current state of multiple sclerosis genetic research.

JP Rubio, TP Speed, M Bahlo, TJ Kilpatrick, SJ Foote

Journal article | 2000 | Annals of the Academy of Medicine Singapore

INTRODUCTION: Multiple sclerosis (MS) is the most common genetic disease of the nervous system with onset usually in young adultho..

Inference from gene trees in a subdivided population

M Bahlo, RC Griffiths

Journal article | 2000 | Theoretical Population Biology

This paper studies gene trees in subdivided populations which are constructed as perfect phylogenies from the pattern of mutations..

The expected number of alleles in a gene conversion model with mutation.

M Bahlo

Journal article | 1999 | Theoretical Population Biology

Gene conversions and mutations affect the number of different alleles in a population as it evolves. Here these effects are studie..

Segregating sites in a gene conversion model with mutation.

M Bahlo

Journal article | 1998 | Theoretical Population Biology

Formulae for the expectation and variance of the number of segregating and homogeneous sites in a sample of two chromosomes are fo..

ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data

Egor Dolzhenko, Mark F Bennett, Phillip A Richmond, Brett Trost, Sai Chen, Joke JFA van Vugt, Charlotte Nguyen, Giuseppe Narzisi, Vladimir G Gainullin, Andrew Gross, Bryan Lajoie, Ryan J Taft, Wyeth W Wasserman, Stephen W Scherer, Jan H Veldink, David R Bentley, RKC Yuen, Melanie Bahlo, Michael A Eberle

Journal article

AbstractExpansions of short tandem repeats are responsible for over 40 monogenic disorders, and undoubtedly many more pathogenic r..

Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder

Roberto Bonelli, Victoria E Jackson, Aravind Prasad, Jacob E Munro, Tjebo FC Heeren, Nikolas Pontikos, Lea Scheppke, Martin Friedlander, Catherine E Egan, Rando Allikmets, Brendan RE Ansell, Melanie Bahlo

Journal article

Macular Telangiectasia Type 2 (MacTel) is a rare degenerative retinal disease with complex genetic architecture. We performed a ge..

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ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

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Scholarly Works

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes.

The Genetics of Epilepsy.

Eukaryote-conserved methylarginine is absent in diplomonads and functionally compensated in Giardia.

Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease

Multiple sclerosis risk variants regulate gene expression in innate and adaptive immune cells

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation

Rapid Diagnosis of Spinocerebellar Ataxia 36 in a three-Generation Family Using Short-Read Whole-Genome Sequencing Data

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania

Rapid diagnosis of SCA36 in a three-generation family using short-read whole genome sequencing data

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response

Cell type and cortex-specific RNA editing in single human neurons informs neuropsychiatric disorders

Characterization Of Focal And Generalized Epilepsy Polygenic Burden In 630,603 Individuals

Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

Familial Adult Myoclonic Epilepsy, Caused By A Pentanucleotide Repeat TTTCA Insertion In SAMD12, In Indian And Sri Lankan Families Extends The Occurrence Of This Mutation To A Wide Region Of Southern Asia

Repeat Expansion Disorders Enriched In An Australian And New Zealand Epi25 Year 1 Epilepsy Cohort

Polygenic burden in focal and generalized epilepsies.

International consensus on quality standards for brain health-focused care in multiple sclerosis.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy

Intronic expansions of an ATTTC pentamer in the STARD7 gene underlie Familial Adult Myoclonic Epilepsy linked to chromosome 2 (FAME2)

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development

dtangle: accurate and robust cell type deconvolution

The role of vitamin D and P2X7R in multiple sclerosis

Pathogenic Variants in GPC4 Cause Keipert Syndrome

Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

Dorsal language stream anomalies in an inherited speech disorder

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

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

Incidence of pregnancy and disease-modifying therapy exposure trends in women with multiple sclerosis: A contemporary cohort study

Association of Initial Disease-Modifying Therapy With Later Conversion to Secondary Progressive Multiple Sclerosis

Prognosticating autoimmune encephalitis: A systematic review

Multiple sclerosis registries in Europe - An updated mapping survey.