Eberle, Michael A.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

van Rheenen, W., van der Spek, R. A. A., Bakker, M. K., van Vugt, J. J. F. A., Hop, P. J., Zwamborn, R. A. J., de Klein, N., Westra, H.-J., Bakker, O. B., Deelen, P., et al. (2021) · Nature Genetics

Amyotrophic Lateral Sclerosis ResearchGenetic Associations and Epidemiology

Cited by 542

Best practices for benchmarking germline small-variant calls in human genomes

the Global Alliance for Genomics and Health Benchmarking Team, Krusche, P., Trigg, L., Boutros, P. C., Mason, C. E., De La Vega, F. M., Moore, B. L., Gonzalez-Porta, M., Eberle, M. A., Tezak, Z., et al. (2019) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 429

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

Dolzhenko, E., Deshpande, V., Schlesinger, F., Krusche, P., Petrovski, R., Chen, S., Emig-Agius, D., Gross, A., Narzisi, G., Bowman, B., et al. (2019) · Bioinformatics

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 394

Detection of long repeat expansions from PCR-free whole-genome sequence data

Dolzhenko, E., van Vugt, J. J. F. A., Shaw, R. J., Bekritsky, M. A., van Blitterswijk, M., Narzisi, G., Ajay, S. S., Rajan, V., Lajoie, B. R., Johnson, N. H., et al. (2017) · Genome Research

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 388

Genomic regions exhibiting positive selection identified from dense genotype data

Carlson, C. S., Thomas, D. J., Eberle, M. A., Swanson, J. E., Livingston, R. J., Rieder, M. J., & Nickerson, D. A. (2005) · Genome Research

Forensic and Genetic ResearchGenetic Associations and Epidemiology

Cited by 298

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

Genome-wide detection of tandem DNA repeats that are expanded in autism

Trost, B., Engchuan, W., Nguyen, C. M., Thiruvahindrapuram, B., Dolzhenko, E., Backstrom, I., Mirceta, M., Mojarad, B. A., Yin, Y., Dov, A., et al. (2020) · Nature

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 238

Paragraph: a graph-based structural variant genotyper for short-read sequence data

Chen, S., Krusche, P., Dolzhenko, E., Sherman, R. M., Petrovski, R., Schlesinger, F., Kirsche, M., Bentley, D. R., Schatz, M. C., Sedlazeck, F. J., et al. (2019) · Genome Biology

Genomic variations and chromosomal abnormalitiesGenomics and Phylogenetic Studies

Cited by 196

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Chen, X., Sanchis-Juan, A., French, C. E., Connell, A. J., Delon, I., Kingsbury, Z., Chawla, A., Halpern, A. L., Taft, R. J., Bentley, D. R., et al. (2020) · Genetics in Medicine

Neurogenetic and Muscular Disorders ResearchGenomics and Rare Diseases

Cited by 137

Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data

Chen, X., Shen, F., Gonzaludo, N., Malhotra, A., Rogert, C., Taft, R. J., Bentley, D. R., & Eberle, M. A. (2021) · The Pharmacogenomics Journal

Pharmacogenetics and Drug MetabolismGenomics and Rare Diseases

Cited by 95

Analysis and benchmarking of small and large genomic variants across tandem repeats

English, A. C., Dolzhenko, E., Ziaei Jam, H., McKenzie, S. K., Olson, N. D., De Coster, W., Park, J., Gu, B., Wagner, J., Eberle, M. A., et al. (2025) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 68

Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene

Toffoli, M., Chen, X., Sedlazeck, F. J., Lee, C.-Y., Mullin, S., Higgins, A., Koletsi, S., Garcia-Segura, M. E., Sammler, E., Scholz, S. W., et al. (2022) · Communications Biology

Lysosomal Storage Disorders ResearchGenomics and Rare Diseases

Cited by 59

Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk

Behera, S., Belyeu, J. R., Chen, X., Paulin, L. F., Nguyen, N. Q. H., Newman, E., Mahmoud, M., Menon, V. K., Qi, Q., Joshi, P., et al. (2023) · BMC Medical Genomics

Lipoproteins and Cardiovascular HealthGenomic variations and chromosomal abnormalities

Cited by 21