World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
80
Citations
22738
World Ranking
1586
National Ranking
54

Research.com Recognitions

  • 2020 - Fellow of the Australian Academy of Health and Medical Science

Overview

Melanie Bahlo is affiliated with the Walter and Eliza Hall Institute of Medical Research in Australia. Their research primarily spans the fields of biochemistry, genetics, and molecular biology, with significant contributions also in medicine.

The scientist's work covers various subfields including molecular biology, genetics, neurology, cellular and molecular neuroscience, and ophthalmology.

Key research topics addressed by Melanie Bahlo include:

  • Genetics and neurodevelopmental disorders
  • Genomics and rare diseases
  • Genetic neurodegenerative diseases
  • Mitochondrial function and pathology
  • Epilepsy research and treatment
  • Genetic associations and epidemiology
  • Retinal diseases and treatments

Frequent co-authors in their publications include:

  • Ingrid E. Scheffer
  • Mark F. Bennett
  • Samuel F. Berkovic
  • Michael S. Hildebrand
  • Liam G. Fearnley

Melanie Bahlo has published extensively in a range of scientific journals. Some of the venues where they have most frequently published are:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • The American Journal of Human Genetics
  • Nature Communications
  • Brain
  • Communications Biology

Among their recent papers are:

  • "The Genetics of Epilepsy" (2020) published in Annual Review of Genomics and Human Genetics
  • "ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data" (2020) published in Genome Biology
  • "A cross-platform approach identifies genetic regulators of human metabolism and health" (2021) published in Nature Genetics
  • "GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture" (2023) published in Nature Genetics
  • "An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14" (2022) published in The American Journal of Human Genetics

Melanie Bahlo was awarded the Fellow of the Australian Academy of Health and Medical Science in 2020.

Best Publications

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

    Vijayaprakash Suppiah;Max Moldovan;Golo Ahlenstiel;Thomas Berg

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

    Shalin H. Naik;Priyanka Sathe;Priyanka Sathe;Hae Young Park;Hae Young Park;Donald Metcalf

  • Iron-overload-related disease in HFE hereditary hemochromatosis

    Katrina J. Allen;Lyle C. Gurrin;Clare C. Constantine;Nicholas J. Osborne

  • Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

    Katherine R. Smith;Katherine R. Smith;John Damiano;Silvana Franceschetti;Stirling Carpenter

  • 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;Matthew A Brown

  • 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

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

    Sarah E Heron;Katherine R Smith;Katherine R Smith;Melanie Bahlo;Melanie Bahlo;Lino Nobili

  • Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

    Samuel F Berkovic;Samuel F Berkovic;Leanne M Dibbens;Leanne M Dibbens;Alicia Oshlack;Jeremy D Silver;Jeremy D Silver

  • Inference from gene trees in a subdivided population.

    M. Bahlo;R.C. Griffiths

  • Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

    Lisa G. Riley;Sandra Cooper;Sandra Cooper;Peter Hickey;Joëlle Rudinger-Thirion

  • Genomewide Linkage Study in 1,176 Affected Sister Pair Families Identifies a Significant Susceptibility Locus for Endometriosis on Chromosome 10q26

    Susan A. Treloar;Susan A. Treloar;Jacqueline Wicks;Jacqueline Wicks;Dale R. Nyholt;Dale R. Nyholt;Grant W. Montgomery;Grant W. Montgomery

  • The Tasmanian devil transcriptome reveals Schwann cell origins of a clonally transmissible cancer

    Elizabeth P. Murchison;Cesar Tovar;Arthur Hsu;Hannah S. Bender;Hannah S. Bender

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

    Haloom Rafehi;Haloom Rafehi;David J. Szmulewicz;Mark F. Bennett;Mark F. Bennett;Nara L.M. Sobreira

  • An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer.

    Ian J Majewski;Irma Kluijt;Annemieke Cats;Thomas S Scerri

  • Identification and Analysis of Error Types in High-Throughput Genotyping

    Kelly R. Ewen;Melanie Bahlo;Melanie Bahlo;Susan A. Treloar;Susan A. Treloar;Douglas F. Levinson

  • Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

    Gabrielle Rosalie Anne-Ma Wilson;Joe Chou Hung Sim;Catriona Ann McLean;Maila Giannandrea

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

    Davor Lessel;Davor Lessel;Bruno Vaz;Swagata Halder;Swagata Halder;Paul J Lockhart

  • 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

    Kim L. Powell;Stuart M. Cain;Caroline Ng;Shreerang Sirdesai

  • Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy

    Marin L. Gantner;Kevin Eade;Martina Wallace;Michal K. Handzlik

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

    Todor Arsov;Katherine R Smith;John Anthony Damiano;Silvana Franceschetti

Frequent Co-Authors

Ingrid E. Scheffer
Ingrid E. Scheffer University of Melbourne
Simon J. Foote
Simon J. Foote Australian National University
Samuel F. Berkovic
Samuel F. Berkovic University of Melbourne
Paul J. Lockhart
Paul J. Lockhart Murdoch Children's Research Institute
David J. Amor
David J. Amor Murdoch Children's Research Institute
Terence P. Speed
Terence P. Speed Walter and Eliza Hall Institute of Medical Research
Helmut Butzkueven
Helmut Butzkueven Monash University
Ivo Mueller
Ivo Mueller Walter and Eliza Hall Institute of Medical Research
Matthew A. Brown
Matthew A. Brown Guy's and St Thomas' NHS Foundation Trust
Jozef Gecz
Jozef Gecz University of Adelaide

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