Bahlo, Melanie

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Smith, K. R., Damiano, J., Franceschetti, S., Carpenter, S., Canafoglia, L., Morbin, M., Rossi, G., Pareyson, D., Mole, S. E., Staropoli, J. F., et al. (2012) · The American Journal of Human Genetics

Amyotrophic Lateral Sclerosis ResearchLysosomal Storage Disorders Research

Cited by 489

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

The International League Against Epilepsy Consortium on Complex Epilepsies, Abou-Khalil, B., Auce, P., Avbersek, A., Bahlo, M., Balding, D. J., Bast, T., Baum, L., Becker, A. J., Becker, F., et al. (2018) · Nature Communications

Epilepsy research and treatmentGenetic Associations and Epidemiology

Cited by 482

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

Heron, S. E., Smith, K. R., Bahlo, M., Nobili, L., Kahana, E., Licchetta, L., Oliver, K. L., Mazarib, A., Afawi, Z., Korczyn, A., et al. (2012) · Nature Genetics

Epilepsy research and treatmentIon channel regulation and function

Cited by 411

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

Rafehi, H., Szmulewicz, D. J., Bennett, M. F., Sobreira, N. L. M., Pope, K., Smith, K. R., Gillies, G., Diakumis, P., Dolzhenko, E., Eberle, M. A., et al. (2019) · The American Journal of Human Genetics

Genetic Neurodegenerative DiseasesGenomics and Rare Diseases

Cited by 262

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

Freytag, S., Tian, L., Lönnstedt, I., Ng, M., & Bahlo, M. (2018) · F1000Research

Single-cell and spatial transcriptomicsGene expression and cancer classification

Cited by 220

Genes4Epilepsy: An epilepsy gene resource

Oliver, K. L., Scheffer, I. E., Bennett, M. F., Grinton, B. E., Bahlo, M., & Berkovic, S. F. (2023) · Epilepsia

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 172

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

Smith, K. R., Dahl, H.-H. M., Canafoglia, L., Andermann, E., Damiano, J., Morbin, M., Bruni, A. C., Giaccone, G., Cossette, P., Saftig, P., et al. (2013) · Human Molecular Genetics

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 130

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

Bahlo, M., Bennett, M. F., Degorski, P., Tankard, R. M., Delatycki, M. B., & Lockhart, P. J. (2018) · F1000Research

Genomics and Rare DiseasesGenetic Neurodegenerative Diseases

Cited by 117

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

Marsh, A. P. L., Heron, D., Edwards, T. J., Quartier, A., Galea, C., Nava, C., Rastetter, A., Moutard, M.-L., Anderson, V., Bitoun, P., et al. (2017) · Nature Genetics

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 101

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

Ye, Z., Chatterton, Z., Pflueger, J., Damiano, J. A., McQuillan, L., Simon Harvey, A., Malone, S., Do, H., Maixner, W., Schneider, A., et al. (2021) · Brain Communications

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 77

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

Rubio, J. P., Tubridy, N., Bahlo, M., Stankovich, J., Burfoot, R., Butzkueven, H., Chapman, C., Johnson, L., Marriott, M., Mraz, G., et al. (2004) · Human Genetics

Multiple Sclerosis Research StudiesGenetic Associations and Epidemiology

Cited by 43

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

Ye, Z., Bennett, M. F., Neal, A., Laing, J. A., Hunn, M. K., Wittayacharoenpong, T., Todaro, M., Patel, S. K., Bahlo, M., Kwan, P., et al. (2022) · Neurology

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 35

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

Oliver, K. L., Trivisano, M., Mandelstam, S. A., De Dominicis, A., Francis, D. I., Green, T. E., Muir, A. M., Chowdhary, A., Hertzberg, C., Goldhahn, K., et al. (2023) · Epilepsia

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 23

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

Tian, L., Schreuder, J., Zalcenstein, D., Tran, J., Kocovski, N., Su, S., Diakumis, P., Bahlo, M., Sargeant, T., Hodgkin, P. D., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory)

Single-cell and spatial transcriptomicsGene Regulatory Network Analysis

Cited by 10