D-Index & Metrics Best Publications

D-Index & Metrics

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics and Molecular Biology D-index 63 Citations 11,934 220 World Ranking 2092 National Ranking 62

Research.com Recognitions

Awards & Achievements

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

Overview

What is she best known for?

The fields of study she is best known for:

  • Gene
  • Mutation
  • Genetics

Melanie Bahlo mostly deals with Genetics, Locus, Missense mutation, Internal medicine and Exome sequencing. Her research related to Progressive myoclonus epilepsy, Neuronal ceroid lipofuscinosis, Gene, Kufs disease and Genetic linkage might be considered part of Genetics. Her research integrates issues of Gene mapping, Ataxia, Neurogenetics and Haplotype in her study of Locus.

Her studies in Missense mutation integrate themes in fields like Compound heterozygosity and Parkinsonism. Her work is dedicated to discovering how Internal medicine, Endocrinology are connected with Myoclonus and Epilepsy and other disciplines. She interconnects Genotype, MED12, Germline and Hereditary diffuse gastric cancer in the investigation of issues within Exome sequencing.

Her most cited work include:

  • IL28B is associated with response to chronic hepatitis C interferon-alpha and ribavirin therapy. (1667 citations)
  • Development of plasmacytoid and conventional dendritic cell subtypes from single precursor cells derived in vitro and in vivo (640 citations)
  • Iron-overload-related Disease in HFE Hereditary Hemochromatosis (515 citations)

What are the main themes of her work throughout her whole career to date?

Her primary areas of study are Genetics, Exome sequencing, Haplotype, Computational biology and Missense mutation. Her study in Locus, Gene, Genetic linkage, Single-nucleotide polymorphism and Allele falls under the purview of Genetics. She has researched Locus in several fields, including Genetic heterogeneity and Myoclonic epilepsy.

Her Exome sequencing research focuses on Exome in particular. Her Computational biology research integrates issues from Whole genome sequencing, Genome, Sequencing data, Genomics and Microsatellite. In her research on the topic of Missense mutation, Internal medicine is strongly related with Epilepsy.

She most often published in these fields:

  • Genetics (87.44%)
  • Exome sequencing (24.38%)
  • Haplotype (22.66%)

What were the highlights of her more recent work (between 2018-2021)?

  • Genetics (87.44%)
  • Computational biology (22.41%)
  • Gene (16.75%)

In recent papers she was focusing on the following fields of study:

Melanie Bahlo mainly focuses on Genetics, Computational biology, Gene, Trinucleotide repeat expansion and Whole genome sequencing. Her study in Exome sequencing, Locus, Genome, Missense mutation and Single-nucleotide polymorphism is carried out as part of her studies in Genetics. Her work in Computational biology addresses issues such as Sequencing data, which are connected to fields such as Genome wide analysis.

The various areas that Melanie Bahlo examines in her Gene study include Progenitor cell and Polydactyly. Her Trinucleotide repeat expansion research is multidisciplinary, relying on both Ataxia, Microsatellite, Haplotype, Age of onset and DNA sequencing. Her Whole genome sequencing research focuses on Reference genome and how it relates to Molecular diagnostics, Alu element and Genomics.

Between 2018 and 2021, her most popular works were:

  • Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. (78 citations)
  • Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy (60 citations)
  • A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development (58 citations)

In her most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • Genetics

Her primary areas of investigation include Genetics, Trinucleotide repeat expansion, Locus, Whole genome sequencing and Gene. Her Genetics research includes themes of Ataxia and Epilepsy. Her work investigates the relationship between Epilepsy and topics such as Copy-number variation that intersect with problems in Genome-wide association study.

Within one scientific family, Melanie Bahlo focuses on topics pertaining to Myoclonic epilepsy under Locus, and may sometimes address concerns connected to DNA Repeat Expansion, Intron, Chromosome and Pedigree chart. Her Whole genome sequencing research includes themes of Alu element, Molecular diagnostics, Haplotype and Genomics. Her studies in Exome sequencing integrate themes in fields like Nonsyndromic deafness, Genetic linkage, Hearing loss and Wolfram syndrome.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

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

Vijayaprakash Suppiah;Max Moldovan;Golo Ahlenstiel;Thomas Berg.
Nature Genetics (2009)

2281 Citations

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

Shalin H. Naik;Shalin H. Naik;Priyanka Sathe;Priyanka Sathe;Hae Young Park;Hae Young Park;Donald Metcalf.
Nature Immunology (2007)

806 Citations

Iron-overload-related Disease in HFE Hereditary Hemochromatosis

Katrina J. Allen;Lyle C. Gurrin;Clare C. Constantine;Nicholas J. Osborne.
The New England Journal of Medicine (2008)

736 Citations

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.
Nature Genetics (2009)

456 Citations

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Katherine R. Smith;Katherine R. Smith;John Damiano;Silvana Franceschetti;Stirling Carpenter.
American Journal of Human Genetics (2012)

378 Citations

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

Nikolaos A. Patsopoulos;Federica Esposito;Joachim Reischl;Stephan Lehr.
Annals of Neurology (2011)

313 Citations

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.
Nature Genetics (2012)

291 Citations

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.
American Journal of Human Genetics (2008)

272 Citations

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.
American Journal of Human Genetics (2005)

262 Citations

Inference from gene trees in a subdivided population.

M. Bahlo;R.C. Griffiths.
Theoretical Population Biology (2000)

252 Citations

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James M. Murphy

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QIMR Berghofer Medical Research Institute

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Ivo Mueller

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Profile was last updated on December 6th, 2021.
Research.com Ranking is based on data retrieved from the Microsoft Academic Graph (MAG).
The ranking d-index is inferred from publications deemed to belong to the considered discipline.

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