M. Bahlo

R. Redon, P. Schwartz, M. Nyegaard, 2020, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

Victoria E. Jackson, I. Scheffer, S. Fisher, 2022, Molecular Psychiatry.

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

Thomas Bourgeron, Christopher Schröder, Bernhard Horsthemke, 2019, Nature Communications.

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

P. Lockhart, N. Brüggemann, K. Lohmann, 2020, Neurology.

Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1

M. Bahlo, C. Srichomthong, K. Suphapeetiporn, 2020, European journal of human genetics : EJHG.

Probabilistic analysis of recessive mutagenesis screen strategies

M. Bahlo, D. Hilton, B. Kile, 2007, Mammalian Genome.

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

Martin A. M. Reijns, P. Lockhart, I. Jackson, 2011, American journal of human genetics.

Genetics of reticular pseudodrusen in age-related macular degeneration.

R. Guymer, M. Bahlo, E. Fletcher, 2022, Trends in genetics : TIG.

Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment

M. Bahlo, M. Bennett, L. Fearnley, 2022, Scientific Reports.

Identification of a Novel RNF213 Variant in a Family with Heterogeneous Intracerebral Vasculopathy

Katherine R. Smith, P. Lockhart, M. Mackay, 2014, International journal of stroke : official journal of the International Stroke Society.

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

J. Gécz, B. Bloem, S. Berkovic, 2013, Brain : a journal of neurology.

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

Robert L L Smith, M. Bahlo, N. Clarke, 2005, Annals of neurology.

Clinical impact of whole-genome sequencing in patients with early-onset dementia

C. Masters, E. Storey, D. Darby, 2022, Journal of Neurology, Neurosurgery, and Psychiatry.

Eukaryote-Conserved Methylarginine Is Absent in Diplomonads and Functionally Compensated in Giardia

Melissa J. Davis, M. Wilkins, S. Hediyeh-zadeh, 2020, Molecular biology and evolution.

An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets.

M. Bahlo, W. Alexander, D. Hilton, 2002, The American journal of pathology.

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

P. Lockhart, K. Leslie, J. Sleigh, 2019, Anesthesiology.

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

P. Lockhart, M. Bahlo, M. Meisler, 2017, Annals of clinical and translational neurology.

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

I. Scheffer, J. Gécz, S. Berkovic, 2020, European Journal of Human Genetics.

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

Katherine R. Smith, P. Lockhart, D. Zee, 2019, American journal of human genetics.

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

P. Meikle, D. Sviridov, M. Bahlo, 2008, PLoS genetics.

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

Katherine R. Smith, M. Bahlo, Luke C. Gandolfo, 2014, American journal of human genetics.

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.

Marin L. Gantner, Christian M. Metallo, F. Eichler, 2019, The New England journal of medicine.

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

I. Scheffer, H. Mefford, S. Berkovic, 2020, Epilepsia.

Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study

S. Szymczak, K. Lohmann, C. Depienne, 2022, Movement disorders : official journal of the Movement Disorder Society.

Gene expression dtangle: accurate and robust cell type deconvolution

Gregory J. Hunt, Johann A. Gagnon-Bartsch, Saskia Freytag, 2019 .

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

S. Berkovic, M. Bahlo, K. Oliver, 2017, Epilepsy Research.

A survey of RNA editing at single-cell resolution links interneurons to schizophrenia and autism

Saskia Freytag, M. Bahlo, B. Ansell, 2021, RNA.

Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy

I. Scheffer, S. Berkovic, M. Bahlo, 2022, Brain : a journal of neurology.

Neonatal BCG vaccination is associated with a long-term DNA methylation signature in circulating monocytes

M. Netea, M. Bahlo, B. Ansell, 2022, Science advances.

Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing.

P. Lockhart, I. Scheffer, M. Bahlo, 2022, European journal of human genetics : EJHG.

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

Katherine R. Smith, S. Berkovic, M. Bahlo, 2016, Neurology.

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25

P. Lockhart, A. Durr, E. Storey, 2022, Annals of neurology.

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

D. Stephan, M. Bahlo, K. Kahrizi, 2010, Clinical genetics.

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

M. Bahlo, A. Bankier, H. Dahl, 2007, American journal of medical genetics. Part A.

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

J. Dickinson, L. FitzGerald, M. Bahlo, 2007, Human Genetics.

Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype

I. Scheffer, M. Bahlo, S. Mandelstam, 2021, Epilepsia open.

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

J. Dickinson, M. Bahlo, J. Stankovich, 2010, British journal of haematology.

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

P. Lockhart, M. Bahlo, D. Amor, 2018, bioRxiv.

A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure.

Liam G. Fearnley, I. Scheffer, D. Balding, 2022, American journal of human genetics.

Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal disease

Marin L. Gantner, Christian M. Metallo, P. Bernstein, 2022, medRxiv.

Genome‐wide genetic screen identifies host ubiquitination as important for Legionella pneumophila Dot/Icm effector translocation

Sze Ying Ong, Saskia Freytag, M. Bahlo, 2021, Cellular microbiology.

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

Timothy J. Edwards, P. Lockhart, L. Richards, 2017, Nature Genetics.

NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk

Liam G. Fearnley, M. Bahlo, L. Henden, 2022, Neurobiology of Aging.

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

T. Speed, T. Kilpatrick, H. Butzkueven, 2008, Genes and Immunity.

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

T. Speed, T. Kilpatrick, H. Butzkueven, 2004, Human Genetics.

Severe childhood speech disorder: gene discovery highlights transcriptional dysregulation

Victoria E. Jackson, I. Scheffer, J. Gécz, 2019 .

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

Katherine R. Smith, A. Sinclair, L. Looijenga, 2014, European Journal of Human Genetics.

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

R. D'Hooge, G. Smyth, F. Andermann, 2008, American journal of human genetics.

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

Katherine R. Smith, D. Dickson, S. Berkovic, 2012, American journal of human genetics.

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

M. Brown, M. Bahlo, S. Browning, 2010, Cancer Epidemiology, Biomarkers & Prevention.

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

Katherine R. Smith, R. Kaneva, M. Bahlo, 2012, American journal of human genetics.

Cross-platform genetic discovery of small molecule products of metabolism and application to clinical outcomes

J. Danesh, A. Wood, V. Zuber, 2020, bioRxiv.

A cross-platform approach identifies genetic regulators of human metabolism and health

J. Danesh, A. Wood, V. Zuber, 2021, Nature Genetics.

Comparative genomics revealed adaptive admixture in Cryptosporidium hominis in Africa

M. Bahlo, A. Adegnika, P. Kremsner, 2020, Microbial genomics.

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

Thomas Berg, Antonina Smedile, Melanie Bahlo, 2009, Nature Genetics.

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

Melanie Bahlo, Elsdon Storey, E. Storey, 2004, Brain : a journal of neurology.

Dating Rare Mutations from Small Samples with Dense Marker Data

T. Speed, M. Bahlo, Luke C. Gandolfo, 2014, Genetics.

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

M. Bahlo, P. Hodgkin, T. Scerri, 2019, Journal of Clinical Immunology.

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

M. Bahlo, H. Goebel, L. Kalaydjieva, 2015, Neuromuscular Disorders.

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

S. Leal, D. Stephan, M. Schiller, 2011, American journal of human genetics.

Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.

M. Bahlo, B. Ilkovski, K. North, 2008, American journal of human genetics.

Progressive Myoclonus Epilepsies

P. Striano, R. Michelucci, S. Berkovic, 1999 .

Genome-Wide Linkage Analysis of the Acute Coronary Syndrome Suggests a Locus on Chromosome 2

A. Tonkin, M. Bahlo, S. Harrap, 2002, Arteriosclerosis, thrombosis, and vascular biology.

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

I. Scheffer, S. Berkovic, Saskia Freytag, 2016, Neurology: Genetics.

Genetics of Epilepsy

S. Berkovic, M. Bahlo, P. Perucca, 2019 .

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Michael R. Johnson, S. Gabriel, M. Daly, 2019, bioRxiv.

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

J. Gécz, G. Jackson, S. Berkovic, 2010, American journal of human genetics.

Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.

D. Stephan, L. Tarantino, T. Wiltshire, 2009, American journal of human genetics.

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

M. Bahlo, J. Kazura, I. Mueller, 2018, PLoS neglected tropical diseases.

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

I. Scheffer, C. Francks, B. Mazoyer, 2018, Molecular Psychiatry.

A cross-platform approach identifies genetic regulators of human metabolism and health

J. Danesh, A. Wood, V. Zuber, 2021, Nature Genetics.

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

Katherine R. Smith, F. Andermann, S. Berkovic, 2011, American journal of human genetics.

An α‐E‐catenin (CTNNA1) mutation in hereditary diffuse gastric cancer

R. Bernards, D. Jong, D. Huntsman, 2013, The Journal of pathology.

Cluster Headache: Comparing Clustering Tools for 10X Single Cell Sequencing Data

Milica Ng, Melanie Bahlo, Saskia Freytag, 2017, bioRxiv.

Global diversity and balancing selection of 23 leading Plasmodium falciparum candidate vaccine antigens

D. Kwiatkowski, M. Bahlo, I. Mueller, 2022, PLoS Comput. Biol..

Unlocking the global antigenic diversity and balancing selection of Plasmodium falciparum

M. Bahlo, I. Mueller, A. Barry, 2021, medRxiv.

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

Melanie Bahlo, Jong-Young Kwak, Donald Metcalf, 2007, Nature Immunology.

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

I. Scheffer, H. Mefford, D. Goldstein, 2017, American journal of 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

T. Speed, E. Mignot, T. Kilpatrick, 2007, Immunogenetics.

Inference from gene trees in a subdivided population.

R. Griffiths, M. Bahlo, M Bahlo, 2000, Theoretical population biology.

Cochlear Implants for DFNA17 Deafness

M. Bahlo, C. D. de Graaf, R. Gardner, 2006, The Laryngoscope.

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

Sharon R. Browning, Patrick Danoy, Melanie Bahlo, 2010, PloS one.

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

T. Speed, G. Stewart, D. Booth, 2007, Tissue antigens.

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

H. Butzkueven, M. Bahlo, J. Stankovich, 2011, Multiple sclerosis.

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.

I. Scheffer, A. Palotie, P. Striano, 2021, American journal of human genetics.

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

M. Brown, T. Kilpatrick, H. Butzkueven, 2010, PloS one.

Detecting genome wide haplotype sharing using SNP or microsatellite haplotype data

T. Speed, M. Bahlo, J. Stankovich, 2006, Human Genetics.

Polycomb Repressive Complex 2 (PRC2) Restricts Hematopoietic Stem Cell Activity

G. Smyth, M. Bahlo, W. Alexander, 2008, PLoS biology.

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

D. Weeks, D. O'Connor, D. Duffy, 2005, American journal of human genetics.

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Susan S. Taylor, I. Scheffer, G. Mortier, 2020, American journal of human genetics.

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

Christian Gieger, Norman Delanty, Ellen Campbell, 2018, Nature Communications.

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

Melanie Bahlo, Katherine R. Smith, P. Lockhart, 2011, Genome Biology.

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

Victoria E. Jackson, M. Brown, J. Reveille, 2020, Nature Communications.

A family study implicates GBE1 in the etiology of autism spectrum disorder

Bradley P. Coe, B. Coe, N. Brown, 2021, Human mutation.

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

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

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

Saskia Freytag, M. Bahlo, R. Burgess, 2017, Genome Medicine.

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

S. Robertson, M. Bahlo, A. Gray, 2018, BMC Medical Genomics.

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

Victoria E. Jackson, I. Scheffer, T. Strom, 2019, Genetics in Medicine.

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

Victoria E. Jackson, M. Bahlo, Nikolas Pontikos, 2020, medRxiv.

Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids.

Victoria E. Jackson, M. Bahlo, S. Blackshaw, 2022, Developmental cell.

Multi-omic Analysis of Developing Human Retina and Organoids Reveals Cell-Specific Cis-Regulatory Elements and Mechanisms of Non-Coding Genetic Disease Risk

Victoria E. Jackson, M. Bahlo, S. Blackshaw, 2021, bioRxiv.

Clonal multi-omics reveals Bcor as a negative regulator of emergency dendritic cell development.

Matthew E. Ritchie, L. Kats, M. Bahlo, 2021, Immunity.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

New insights into malaria susceptibility from the genomes of 17,000 individuals from Africa, Asia, and Oceania

Anna E. Jeffreys, G. McVean, D. Kwiatkowski, 2019 .

Molecular characterization of a novel X‐linked syndrome involving developmental delay and deafness

M. Bahlo, T. Tolmachova, S. White, 2007, American journal of medical genetics. Part A.

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

C. Walsh, A. Allen, S. Robertson, 2018, PLoS genetics.

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.

Melanie Bahlo, Bastiaan R Bloem, Luke C Gandolfo, 2011, American journal of human genetics.

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

Wyeth W. Wasserman, Giuseppe Narzisi, Phillip A. Richmond, 2019, Genome Biology.

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

Melanie Bahlo, Elsdon Storey, David Valle, 2019, American journal of human genetics.

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

Melanie Bahlo, P. Lockhart, M. Bahlo, 2018, American journal of human genetics.

Increasingly inbred and fragmented populations of Plasmodium vivax with declining transmission

M. Bahlo, J. Kazura, I. Mueller, 2016, bioRxiv.

Long-term sustained malaria control leads to inbreeding and fragmentation of Plasmodium vivax populations

M. Bahlo, J. Kazura, I. Mueller, 2016, 1612.06050.

Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy

I. Scheffer, J. Gécz, S. Berkovic, 2022, Neurology: Genetics.

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

Matthew E. Ritchie, M. Bahlo, M. Ritchie, 2018, bioRxiv.

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

P. Lockhart, M. Bahlo, M. Delatycki, 2015, Neurology: Genetics.

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

P. Meikle, D. Sviridov, M. Bahlo, 2008, PLoS Genetics.

SNP barcodes provide higher resolution than microsatellite markers to measure Plasmodium vivax population genetics

M. Bahlo, L. Robinson, J. Kazura, 2020, Malaria journal.

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

Melanie Bahlo, Martin Friedlander, Mark Leppert, 2017, Nature Genetics.

Deletions in VANGL1 are a risk factor for antibody-mediated kidney disease.

T. Andrews, M. Bahlo, R. Thomson, 2021, Cell reports. Medicine.

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

Lei Xing, M. Bahlo, C. R. Wilkinson, 2004, Bioinform..

Identification and analysis of error types in high-throughput genotyping.

D. Levinson, M. Bahlo, B. Mowry, 2000, American journal of human genetics.

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

R. Pfundt, P. Lockhart, S. Mundlos, 2019, American journal of human genetics.

Generating linkage mapping files from Affymetrix SNP chip data

M. Bahlo, C. J. Bromhead, M. Bahlo, 2009, Bioinform..

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.

I. Scheffer, J. Gécz, G. Jackson, 2017, European journal of medical genetics.

X chromosome association testing in genome wide association studies

Melanie Bahlo, Peter F Hickey, M. Bahlo, 2011, Genetic epidemiology.

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

Katherine R. Smith, P. Lockhart, M. Bahlo, 2013, European Journal of Human Genetics.

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency

P. Lockhart, E. Storey, M. Bahlo, 2016, Neurology: Genetics.

An intronic GAA repeat expansion in FGF14 causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14)

Liam G. Fearnley, P. Lockhart, M. Eberle, 2022, medRxiv.

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

David Wakeham, Melanie Bahlo, Lyndal Henden, 2016, Bioinform..

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

D. English, D. Gertig, G. Giles, 2009, British journal of haematology.

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria

I. Scheffer, A. Morgan, M. Bahlo, 2013, American journal of medical genetics. Part A.

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3

P. Lockhart, P. Crino, M. Bahlo, 2015, Annals of neurology.

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

Melanie Bahlo, P. Lockhart, M. Bahlo, 2018, F1000Research.

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

M. Bahlo, N. Clarke, Luke C. Gandolfo, 2012, Brain : a journal of neurology.

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

M. Bahlo, C. Mitchell, H. Dahl, 2011, PloS one.

A Cav3.2 T-Type Calcium Channel Point Mutation Has Splice-Variant-Specific Effects on Function and Segregates with Seizure Expression in a Polygenic Rat Model of Absence Epilepsy

C. Reid, M. Bahlo, S. Foote, 2009, The Journal of Neuroscience.

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

Tommaso Pippucci, Josemir W. Sander, Edouard Hirsch, 2019, Nature Communications.

Population-level genome-wide STR discovery and validation for population structure and genetic diversity assessment of Plasmodium species

M. Bahlo, A. Barry, Jacob E. Munro, 2022, PLoS genetics.

Population-level genome-wide STR typing in Plasmodium species reveals higher resolution population structure and genetic diversity relative to SNP typing

M. Bahlo, A. Barry, Jacob E. Munro, 2021, bioRxiv.

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

Melanie Bahlo, Wen-Qiang He, Katherine R. Smith, 2015, Proceedings of the National Academy of Sciences.

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

M. Bahlo, A. Papenfuss, B. Currie, 2016, PLoS Neglected Tropical Diseases.

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

Pablo Moscato, Rodney J. Scott, Brian L. Browning, 2009, Nature Genetics.

Ultrafast, alignment-free detection of repeat expansions in next-generation DNA and RNA sequencing data

M. Bahlo, M. Bennett, L. Fearnley, 2021, bioRxiv.

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

Shankaracharya, J. Hodges, J. Fullerton, 2020, Brain : a journal of neurology.

Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations

P. Lockhart, M. Bahlo, E. Janus, 2021, American journal of medical genetics. Part A.

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

Terence P. Speed, Melanie Bahlo, Devika Ganesamoorthy, 2014, PloS one.

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, G. Stewart, D. Booth, 2011, Genome Medicine.

Coalescence time for two genes from a subdivided population

Robert C. Griffiths, Melanie Bahlo, R. Griffiths, 2001, Journal of mathematical biology.

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

P. Lockhart, I. Scheffer, R. Lister, 2021, Brain communications.

Evaluation of non‐coding variation in GLUT1 deficiency

I. Scheffer, S. Berkovic, M. Bahlo, 2016, Developmental medicine and child neurology.

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

Katherine R. Smith, A. Hoischen, E. Haan, 2015, Human molecular genetics.

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

Katherine R. Smith, I. Scheffer, S. Berkovic, 2015, Epilepsy Research.

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

D. Stephan, J. Webster, M. Bahlo, 2010, The Annals of otology, rhinology, and laryngology.

A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family

D. Stephan, J. Webster, M. Bahlo, 2009, American journal of medical genetics. Part A.

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss

D. Stephan, J. Webster, M. Bahlo, 2009, The Laryngoscope.

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

Yusuke Nakamura, T. Thornton, T. Mushiroda, 2010, Human Genetics.

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

M. Cowley, M. Bahlo, T. Roscioli, 2017, Journal of Inherited Metabolic Disease.

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

Katherine R. Smith, A. Sinclair, L. Looijenga, 2015 .

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

J. Hopper, M. Southey, G. Dite, 2010, BMC Cancer.

Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

G. Borsani, L. Mazzola, S. Berkovic, 2020, Annals of neurology.

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

I. Scheffer, S. Berkovic, A. Korczyn, 2015, Human molecular genetics.

Epilepsy with Early Ataxia

S. Berkovic, A. Korczyn, M. Bahlo, 2015 .

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

Johann A. Gagnon-Bartsch, T. Speed, Saskia Freytag, 2015, BMC Bioinformatics.

Dtangle: Accurate and Robust Cell Type Deconvolution

Gregory J. Hunt, Saskia Freytag, Melanie Bahlo, 2018, Bioinform..

Using common genetic variants to find drugs for common epilepsies

David F. Smith, C. Gieger, I. Scheffer, 2021, Brain Communications.

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

M. Shaw, E. Haan, J. Gécz, 2015, European journal of medical 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*

G. Smyth, M. Bahlo, B. Phipson, 2012, The Journal of Biological Chemistry.

PacBio long-read amplicon sequencing enables scalable high-resolution population allele typing of the complex CYP2D6 locus

M. Bahlo, I. Mueller, Jacob E. Munro, 2022, Communications Biology.

PacBio long-read amplicon sequencing enables scalable high-resolution population allele typing of the complex CYP2D6 locus

M. Bahlo, I. Mueller, Jacob E. Munro, 2022, Communications biology.

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

M. Bahlo, P. Siba, I. Mueller, 2015, PLoS neglected tropical diseases.

Transcriptome analysis of a ring chromosome 20 patient cohort

I. Scheffer, S. Berkovic, M. Bahlo, 2020, Epilepsia.

Missense mutations in the MLKL ‘brace’ region lead to lethal neonatal inflammation in mice and are present in high frequency in humans

M. Brown, J. Reveille, A. Bassuk, 2019, bioRxiv.

Segregating sites in a gene conversion model with mutation.

M. Bahlo, 1998, Theoretical population biology.

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

M. Bahlo, S. Harrap, A. Lamantia, 2002, Physiological genomics.

Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease

R. Guymer, M. Bahlo, M. Fruttiger, 2020, Scientific Reports.

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

T. Speed, I. Dubchak, E. Rubin, 2002, Mammalian Genome.

UKB.COVID19: an R package for UK Biobank COVID-19 data processing and analysis

Liam G. Fearnley, Victoria E. Jackson, M. Bahlo, 2021, F1000Research.

Loss‐of‐function variants in Kv11.1 cardiac channels as a biomarker for SUDEP

Lauren E Bleakley, I. Scheffer, C. Reid, 2021, Annals of clinical and translational neurology.

Loss-of-function variants in the cardiac Kv11.1 channel as a genetic biomarker for SUDEP

Lauren E Bleakley, I. Scheffer, C. Reid, 2021, bioRxiv.

Challenges of diagnostic exome sequencing in an inbred founder population

M. Bahlo, L. Kalaydjieva, M. Bynevelt, 2013, Molecular genetics & genomic medicine.

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

Katherine R. Smith, F. Andermann, S. Berkovic, 2013, Human molecular genetics.

Contribution of rare genetic variants to drug response in absence epilepsy

I. Scheffer, S. Berkovic, M. Bahlo, 2021, Epilepsy Research.

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

P. Lockhart, I. Scheffer, G. Jackson, 2015, Annals of clinical and translational neurology.

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

T. Kilpatrick, H. Butzkueven, M. Bahlo, 2009, Neurology.

A new dominantly inherited pure cerebellar ataxia, SCA 30

C. Lueck, E. Storey, M. Bahlo, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

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

Katrien Stouffs, Melanie Bahlo, Holger Prokisch, 2016, American journal of human genetics.

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

T. Speed, M. Brown, H. Butzkueven, 2020, Life Science Alliance.

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.

P. Lockhart, E. Stanley, D. Elliott, 2016, European heart journal.

Self‐reported impact of developmental stuttering across the lifespan

Victoria E. Jackson, I. Scheffer, S. Fisher, 2022, Developmental medicine and child neurology.

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

I. Scheffer, H. Mefford, M. Bahlo, 2023, Epilepsia.

iPSC–derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function

Marin L. Gantner, Christian M. Metallo, P. Bernstein, 2023, The Journal of clinical investigation.

Mapping of the Plasmodium chabaudi Resistance Locus char2

T. Speed, M. Bahlo, S. Foote, 2006, Infection and Immunity.

Use of copy number deletion polymorphisms to assess DNA chimerism.

N. Thorne, D. Power, M. Bahlo, 2014, Clinical chemistry.

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

I. Scheffer, J. Gécz, P. Striano, 2016, Human Genetics.

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

P. Lockhart, R. Djaldetti, M. Bahlo, 2019, Parkinsonism & related disorders.

Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia

Liam G. Fearnley, K. Friend, J. Kwok, 2023, Science advances.

Young-onset dementia diagnosis, management and care.

M. Bahlo, 2023, The Medical journal of Australia.

Intellectual Disability and Early-Onset Parkinson Disease with a-Synuclein Pathology

P. Lockhart, S. Haas, K. Hogan, 2014 .

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

G. Carvill, I. Scheffer, H. Mefford, 2016, Neurology.

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania

I. Scheffer, M. Mackay, S. Berkovic, 2019, Epilepsia open.

A novel mutation in COCH—implications for genotype‐phenotype correlations in DFNA9 hearing loss

D. Stephan, J. Webster, M. Bahlo, 2010, The Laryngoscope.

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

Kate M. Lawrence, I. Scheffer, C. Reid, 2015, Annals of clinical and translational neurology.

Statistical haemoglobin thresholds to define anaemia across the lifecycle

M. Bahlo, C. Birken, K. Fielding, 2023, medRxiv.

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.

P. Lockhart, I. Scheffer, J. Motelow, 2022, Human molecular genetics.

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

J. Dickinson, M. Bahlo, J. Stankovich, 2002, Annals of the rheumatic diseases.

KCTD1 and Scalp-Ear-Nipple (‘Finlay–Marks’) syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains

M. Bahlo, E. Fletcher, D. Colville, 2022, Ophthalmic genetics.

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

Terence P. Speed, Melanie Bahlo, Helmut Butzkueven, 2006, Human Genetics.

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

L. Yannuzzi, M. Bahlo, N. Matsunami, 2017, Nature Genetics.

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

I. Scheffer, J. Gécz, P. Striano, 2016, Human Genetics.

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.

Liam G. Fearnley, P. Lockhart, M. Eberle, 2023, American journal of human genetics.

Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus

I. Scheffer, J. Gécz, M. Sperling, 2021, Neurology.

Guiding and interpreting brain network classification with transcriptional data

Elizaveta Levina, Mengbo Li, Daniel Kessler, 2020, bioRxiv.

Nitric Oxide Synthase and Causes Hypertension and Vascular Dysfunction Loss of Collectrin, an Angiotensin-Converting Enzyme 2 Homolog, Uncouples Endothelial

J. Pankow, A. Kraja, D. Arnett, 2015 .

G.P.41 The identification of LGMD2G (TCAP) in Australia

M. Lek, M. Bahlo, L. Waddell, 2012, Neuromuscular Disorders.

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

D. Sillence, S. Robertson, M. Bahlo, 2018, American journal of human genetics.

University of Groningen Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH 3

D. Sillence, S. Robertson, M. Bahlo, 2018 .

An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice.

M. Bahlo, H. Dahl, K. Miller, 2011, The American journal of pathology.

Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes

I. Scheffer, P. Kwan, S. Berkovic, 2022, Neurology.

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

Katherine R. Smith, M. Bahlo, K. Oliver, 2014, Human Genetics.

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay

I. Scheffer, M. Bahlo, S. Mandelstam, 2018, American journal of medical genetics. Part A.

Multi-omic spatial effects on high-resolution AI-derived retinal thickness

M. Bahlo, K. Williams, S. Farashi, 2023, medRxiv.

The retinal RNA editome is concentrated in photoreceptor-specific genes and genetically linked to vision loss

A. Swaroop, R. Ratnapriya, M. Bahlo, 2023, bioRxiv.

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

S. Haas, E. Leshinsky‐Silver, M. Skopkova, 2018, Yearbook of Paediatric Endocrinology.

Genes4Epilepsy: An epilepsy gene resource

I. Scheffer, S. Berkovic, M. Bahlo, 2023, Epilepsia.

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

S. Robertson, M. Bahlo, A. Gray, 2018, BMC Medical Genomics.

GFI1B Mutation Causes a Platelet Function Defect With Reduced Alpha-Granule Content and Abnormal Aggregation Response

M. Bahlo, Ashley P Ng, A. Roberts, 2013 .

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

M. Bahlo, R. Allikmets, S. Farashi, 2021, Communications biology.

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

Sara Ballouz, Melanie Bahlo, Bruno Gaeta, 2013, Molecular genetics & genomic medicine.

Identical by descent L 1 CAM mutation in two apparently unrelated families with intellectual disability without L 1 syndrome

E. Haan, J. Gécz, M. Bahlo, 2015 .

High resolution imaging and five-year tuberculosis contact outcomes

J. Flynn, D. Alland, R. Bowden, 2023, medRxiv.

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

Melanie Bahlo, Hilbert J Kappen, Russell Thomson, 2008, American journal of human genetics.

Faculty of 1000 evaluation for Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.

M. Bahlo, 2018 .

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.

Liam G. Fearnley, P. Lockhart, M. Eberle, 2022, American journal of human genetics.

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

M. Bahlo, P. Hodgkin, T. Scerri, 2019, Journal of Clinical Immunology.

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

Katherine R. Smith, F. Andermann, S. Berkovic, 2011, American journal of human genetics.

Defining malaria parasite population subdivisions, transmission dynamics and infection origins using SNP barcodes

M. Bahlo, P. Siba, Stuart Lee, 2023, medRxiv.

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria

I. Scheffer, A. Morgan, M. Bahlo, 2013, American journal of medical genetics. Part A.

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

M. Brown, M. Bahlo, S. Browning, 2010, Cancer Epidemiology, Biomarkers & Prevention.

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

Manolis Kellis, J. Graves, T. Harkins, 2009, Science.

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Ethan M. Goldberg, Andreas M. Koupparis, W. C. Stewart, 2023, Nature Genetics.

Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture

I. Scheffer, P. Striano, P. Kwan, 2023, Annals of neurology.

The Genetics of Epilepsy.

S. Berkovic, M. Bahlo, P. Perucca, 2020, Annual review of genomics and human genetics.

GFI1B mutation causes a bleeding disorder with abnormal platelet function

M. Bahlo, Ashley P Ng, A. Roberts, 2013, Journal of Thrombosis and Haemostasis.

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

Martin A. M. Reijns, P. Lockhart, I. Jackson, 2011, American journal of human genetics.

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Liam G. Fearnley, B. Weisburd, M. Bahlo, 2023, medRxiv.

Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.

Emma L. Burrows, J. Gécz, F. Liégeois, 2023, Brain : a journal of neurology.

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

David K. Wright, A. Sinclair, P. Kwan, 2023, Nature communications.

Spatial distribution of metabolites in the retina and its relevance to studies of metabolic retinal disorders

M. Bahlo, M. Fruttiger, B. Ansell, 2023, Metabolomics.

Validation of new tools to identify expanded repeats: an intronic pentamer expansion in RFC1 causes CANVAS

Melanie Bahlo, Elsdon Storey, David Valle, 2019, bioRxiv.

Cpipe: a shared variant detection pipeline designed for diagnostic settings

Denis C. Bauer, N. Thorne, A. Oshlack, 2015, Genome Medicine.

Recent advances in the detection of repeat expansions with short-read next-generation sequencing [version 1; peer review: 3 approved]

M. Bahlo, M. Delatycki, M. Bennett, 2022 .

Self-Reported Stuttering Severity Is Accurate: Informing Methods for Large-Scale Data Collection in Stuttering.

M. Bahlo, E. Eising, Richard Parker, 2023, Journal of speech, language, and hearing research : JSLHR.

Faculty Opinions recommendation of Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.

M. Bahlo, 2018, Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature.

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

Katherine R. Smith, A. Hoischen, E. Haan, 2015, Human molecular genetics.

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

Terence P. Speed, Melanie Bahlo, Johann Gagnon-Bartsch, 2015, BMC Bioinformatics.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Rebecca C. Spillmann, Thomas M. Durcan, Vladimir S Fonov, 2024, Nature communications.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Vladimir S Fonov, Undiagnosed Diseases Network, C. Saunders, 2022, medRxiv.

AmpSeqR: an R package for amplicon deep sequencing data analysis

M. Bahlo, Jacob E. Munro, Jiru Han, 2023, F1000Research.