VarSome: the human genomic variant search engine

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587

ClinVar: public archive of interpretations of clinically relevant variants

Landrum, M. J., Lee, J. M., Benson, M., Brown, G., Chao, C., Chitipiralla, S., Gu, B., Hart, J., Hoffman, D., Hoover, J., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkv1222 · Cited by 2,758

International network of cancer genome projects

The International Cancer Genome Consortium (2010) · Nature · doi:10.1038/nature08987 · Cited by 2,299

Frequent somatic TET2 mutations in chronic NK-LGL leukemia with distinct patterns of cytopenias

Olson, T. L., Cheon, H., Xing, J. C., Olson, K. C., Paila, U., Hamele, C. E., Neelamraju, Y., Shemo, B. C., Schmachtenberg, M., Sundararaman, S. K., et al. (2021) · Blood · doi:10.1182/blood.2020005831 · Cited by 65

Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases

Chu, S., Xie, X., Payan, C., & Stochaj, U. (2023) · Molecular Neurodegeneration · doi:10.1186/s13024-023-00639-y · Cited by 58

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player

Celse, T., Cazin, C., Mietton, F., Martinez, G., Martinez, D., Thierry-Mieg, N., Septier, A., Guillemain, C., Beurois, J., Clergeau, A., et al. (2021) · Human Genetics · doi:10.1007/s00439-020-02229-0 · Cited by 42

Improving the prediction of protein stability changes upon mutations by geometric learning and a pre-training strategy

Xu, Y., Liu, D., & Gong, H. (2024) · Nature Computational Science · doi:10.1038/s43588-024-00716-2 · Cited by 41

A familial missense variant in the Alzheimer’s disease gene SORL1 impairs its maturation and endosomal sorting

Fazeli, E., Child, D. D., Bucks, S. A., Stovarsky, M., Edwards, G., Rose, S. E., Yu, C.-E., Latimer, C., Kitago, Y., Bird, T., et al. (2024) · Acta Neuropathologica · doi:10.1007/s00401-023-02670-1 · Cited by 29

Genetic basis of acephalic spermatozoa syndrome, and intracytoplasmic sperm injection outcomes in infertile men: a systematic scoping review

Mazaheri Moghaddam, M., Mazaheri Moghaddam, M., Hamzeiy, H., Baghbanzadeh, A., Pashazadeh, F., & Sakhinia, E. (2021) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-020-02008-w · Cited by 25

Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference

Kutukculer, N., Topyildiz, E., Berdeli, A., Guven Bilgin, B., Aykut, A., Durmaz, A., Cogulu, O., Aksu, G., & Edeer Karaca, N. (2021) · Clinical Case Reports · doi:10.1002/ccr3.3934 · Cited by 21

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies

González-del Pozo, M., Fernández-Suárez, E., Bravo-Gil, N., Méndez-Vidal, C., Martín-Sánchez, M., Rodríguez-de la Rúa, E., Ramos-Jiménez, M., Morillo-Sánchez, M. J., Borrego, S., & Antiñolo, G. (2022) · npj Genomic Medicine · doi:10.1038/s41525-022-00286-0 · Cited by 21

The Landscape of Glycogen Synthase Kinase-3 Beta Genomic Alterations in Cancer

Borden, B. A., Baca, Y., Xiu, J., Tavora, F., Winer, I., Weinberg, B. A., Vanderwalde, A. M., Darabi, S., Korn, W. M., Mazar, A. P., et al. (2021) · Molecular Cancer Therapeutics · doi:10.1158/1535-7163.mct-20-0497 · Cited by 15

Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy

Macha, A., Liebsch, F., Fricke, S., Hetsch, F., Neuser, F., Johannes, L., Kress, V., Djémié, T., Santamaria-Araujo, J. A., Vilain, C., et al. (2022) · Human Molecular Genetics · doi:10.1093/hmg/ddab298 · Cited by 10

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

Sleyp, Y., Valenzuela, I., Accogli, A., Ballon, K., Ben-Zeev, B., Berkovic, S. F., Broly, M., Callaerts, P., Caylor, R. C., Charles, P., et al. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.08.020 · Cited by 10

Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot

Ferrero, E., Di Gregorio, E., Ferrero, M., Ortolan, E., Moon, Y.-A., Di Campli, A., Pavinato, L., Mancini, C., Tripathy, D., Manes, M., et al. (2023) · Human Genetics · doi:10.1007/s00439-023-02572-y · Cited by 9

Type 1 interferon perturbates clonal competition by reshaping human blood development

Lama, C., Isakov, D., Rosenberg, S., Quijada-Álamo, M., Saurty-Seerunghen, M. S., Moein, S., Nozais, M., Abera, T.-A., Sakaguchi, O., Totwani, M., et al. (2026) · Nature Genetics · doi:10.1038/s41588-026-02751-3 · Cited by 3

Leukemia mutated proteins PHF6 and PHIP form a chromatin complex that represses acute myeloid leukemia stemness

Pawar, A. S., Somers, P., Alex, A., Grana, J., Feist, V. K., George, S. S., Jalnapurkar, S. S., Antony, C., Verner, R., White-Brown, S. K., et al. (2025) · Genes & Development · doi:10.1101/gad.352602.125 · Cited by 3

Strengthening the Role of PSMC5 as a Potential Gene Associated with Neurodevelopmental Disorders

Vinci, M., Musumeci, A., Papa, C., Ragalmuto, A., Saccone, S., Federico, C., Greco, D., Greco, V., Calì, F., & Treccarichi, S. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26136386 · Cited by 2