MutationTaster2: mutation prediction for the deep-sequencing age

An integrated map of genetic variation from 1,092 human genomes

The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711

Integrating common and rare genetic variation in diverse human populations

The International HapMap 3 Consortium (2010) · Nature · doi:10.1038/nature09298 · Cited by 3,026

MutationTaster evaluates disease-causing potential of sequence alterations

Schwarz, J. M., Rödelsperger, C., Schuelke, M., & Seelow, D. (2010) · Nature Methods · doi:10.1038/nmeth0810-575 · Cited by 2,975

The Ensembl Variant Effect Predictor

McLaren, W., Gil, L., Hunt, S. E., Riat, H. S., Ritchie, G. R. S., Thormann, A., Flicek, P., & Cunningham, F. (2016) · Genome Biology · doi:10.1186/s13059-016-0974-4 · Cited by 8,099

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

Pejaver, V., Urresti, J., Lugo-Martinez, J., Pagel, K. A., Lin, G. N., Nam, H.-J., Mort, M., Cooper, D. N., Sebat, J., Iakoucheva, L. M., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-19669-x · Cited by 923

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Pejaver, V., Byrne, A. B., Feng, B.-J., Pagel, K. A., Mooney, S. D., Karchin, R., O’Donnell-Luria, A., Harrison, S. M., Tavtigian, S. V., Greenblatt, M. S., et al. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.10.013 · Cited by 589

Next-generation diagnostics and disease-gene discovery with the Exomiser

Smedley, D., Jacobsen, J. O. B., Jäger, M., Köhler, S., Holtgrewe, M., Schubach, M., Siragusa, E., Zemojtel, T., Buske, O. J., Washington, N. L., et al. (2015) · Nature Protocols · doi:10.1038/nprot.2015.124 · Cited by 445

The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity

Grimm, D. G., Azencott, C., Aicheler, F., Gieraths, U., MacArthur, D. G., Samocha, K. E., Cooper, D. N., Stenson, P. D., Daly, M. J., Smoller, J. W., et al. (2015) · Human Mutation · doi:10.1002/humu.22768 · Cited by 356

Regional missense constraint improves variant deleteriousness prediction

Samocha, K. E., Kosmicki, J. A., Karczewski, K. J., O’Donnell-Luria, A. H., Pierce-Hoffman, E., MacArthur, D. G., Neale, B. M., & Daly, M. J. (2017) · doi:10.1101/148353 · Cited by 351

Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella

Tang, S., Wang, X., Li, W., Yang, X., Li, Z., Liu, W., Li, C., Zhu, Z., Wang, L., Wang, J., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.04.012 · Cited by 304

Exome Sequencing and the Management of Neurometabolic Disorders

Tarailo-Graovac, M., Shyr, C., Ross, C. J., Horvath, G. A., Salvarinova, R., Ye, X. C., Zhang, L.-H., Bhavsar, A. P., Lee, J. J. Y., Drögemöller, B. I., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1515792 · Cited by 281

Metabolic reprogramming toward oxidative phosphorylation identifies a therapeutic target for mantle cell lymphoma

Zhang, L., Yao, Y., Zhang, S., Liu, Y., Guo, H., Ahmed, M., Bell, T., Zhang, H., Han, G., Lorence, E., et al. (2019) · Science Translational Medicine · doi:10.1126/scitranslmed.aau1167 · Cited by 233

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

Bellenguez, C., Charbonnier, C., Grenier-Boley, B., Quenez, O., Le Guennec, K., Nicolas, G., Chauhan, G., Wallon, D., Rousseau, S., Richard, A. C., et al. (2017) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2017.07.001 · Cited by 166

YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction

Gabriele, M., Vulto-van Silfhout, A. T., Germain, P.-L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.05.006 · Cited by 163

Laying the foundation for genomically-based risk assessment in chronic myeloid leukemia

on behalf of the International CML Foundation Genomics Alliance, Branford, S., Kim, D. D. H., Apperley, J. F., Eide, C. A., Mustjoki, S., Ong, S. T., Nteliopoulos, G., Ernst, T., Chuah, C., et al. (2019) · Leukemia · doi:10.1038/s41375-019-0512-y · Cited by 149

Recessive mutations in VPS13D cause childhood onset movement disorders

Gauthier, J., Meijer, I. A., Lessel, D., Mencacci, N. E., Krainc, D., Hempel, M., Tsiakas, K., Prokisch, H., Rossignol, E., Helm, M. H., et al. (2018) · Annals of Neurology · doi:10.1002/ana.25204 · Cited by 127

SeqSVM: A Sequence-Based Support Vector Machine Method for Identifying Antioxidant Proteins

Xu, L., Liang, G., Shi, S., & Liao, C. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19061773 · Cited by 95

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study

Beggs, A. H., Byrne, B. J., De Chastonay, S., Haselkorn, T., Hughes, I., James, E. S., Kuntz, N. L., Simon, J., Swanson, L. C., Yang, M. L., et al. (2018) · Muscle & Nerve · doi:10.1002/mus.26018 · Cited by 83

De novo mutations from whole exome sequencing in neurodevelopmental and psychiatric disorders: From discovery to application

Wang, W., Corominas, R., & Lin, G. N. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00258 · Cited by 70

NFIB haploinsufficiency is associated with intellectual disability and macrocephaly

Schanze, I., Bunt, J., Lim, J. W. C., Schanze, D., Dean, R. J., Alders, M., Blanchet, P., Attié-Bitach, T., Berland, S., Boogert, S., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.10.006 · Cited by 63

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

Gang, Q., Bettencourt, C., Machado, P. M., Brady, S., Holton, J. L., Pittman, A. M., Hughes, D., Healy, E., Parton, M., Hilton-Jones, D., et al. (2016) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2016.07.024 · Cited by 51

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability

Heimer, G., Oz-Levi, D., Eyal, E., Edvardson, S., Nissenkorn, A., Ruzzo, E. K., Szeinberg, A., Maayan, C., Mai-Zahav, M., Efrati, O., et al. (2016) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2015.10.003 · Cited by 49

Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy

Farhan, S. M. K., Nixon, K. C. J., Everest, M., Edwards, T. N., Long, S., Segal, D., Knip, M. J., Arts, H. H., Chakrabarti, R., Wang, J., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx316 · Cited by 43

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities

Jelani, M., Dooley, H. C., Gubas, A., Mohamoud, H. S. A., Khan, M. T. M., Ali, Z., Kang, C., Rahim, F., Jan, A., Vadgama, N., et al. (2019) · Brain · doi:10.1093/brain/awz075 · Cited by 48

A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases

Novice, T., Kariminia, A., Del Bel, K. L., Lu, H., Sharma, M., Lim, C. J., Read, J., Lugt, M. V., Hannibal, M. C., O’Dwyer, D., et al. (2020) · Journal of Clinical Immunology · doi:10.1007/s10875-019-00731-3 · Cited by 44

VIPdb, a genetic variant impact predictor database

Hu, Z., Yu, C., Furutsuki, M., Andreoletti, G., Ly, M., Hoskins, R., Adhikari, A. N., & Brenner, S. E. (2019) · Human Mutation · doi:10.1002/humu.23858 · Cited by 37

Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome

Ritelli, M., Cinquina, V., Venturini, M., Pezzaioli, L., Formenti, A. M., Chiarelli, N., & Colombi, M. (2019) · Genes · doi:10.3390/genes10020135 · Cited by 33

Hepatic SREBP signaling requires SPRING to govern systemic lipid metabolism in mice and humans

Hendrix, S., Kingma, J., Ottenhoff, R., Valiloo, M., Svecla, M., Zijlstra, L. F., Sachdev, V., Kovac, K., Levels, J. H. M., Jongejan, A., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-40943-1 · Cited by 34

Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7—a review of eye anomalies in the linkeropathy syndromes

Arunrut, T., Sabbadini, M., Jain, M., Machol, K., Scaglia, F., & Slavotinek, A. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37809 · Cited by 23

Mutations in Proteasome-Related Genes Are Associated with Thyroid Hemiagenesis

Budny, B., Szczepanek-Parulska, E., Zemojtel, T., Szaflarski, W., Rydzanicz, M., Wesoly, J., Handschuh, L., Wolinski, K., Piatek, K., Niedziela, M., et al. (2017) · Endocrine · doi:10.1007/s12020-017-1287-4 · Cited by 22

Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder

Cameron, J. M., Levandovskiy, V., Roberts, W., Anagnostou, E., Scherer, S., Loh, A., & Schulze, A. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18081665 · Cited by 15

Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure

Richmond, C. M., Campbell, S., Foo, H. W., Lunke, S., Stark, Z., Moody, A., Bannister, E., Greenway, A., & Brown, N. (2020) · Molecular Syndromology · doi:10.1159/000505886 · Cited by 12

An Axin2 mutation and perinatal risk factors contribute to sagittal craniosynostosis: evidence from a Chinese female monochorionic diamniotic twin family

Xu, J., Yan, Q., Song, C., Liang, J., Zhao, L., Zhang, X., Weng, Z., Xu, C., Liu, Q., Xu, S., et al. (2021) · Hereditas · doi:10.1186/s41065-021-00182-0 · Cited by 4

Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1

Zheng, F., Lin, Z., Hu, Y., Shi, X., Zhao, Q., & Lin, Z. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12020473 · Cited by 1