MutationTaster evaluates disease-causing potential of sequence alterations

A method and server for predicting damaging missense mutations.

Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194 · see citing works

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 · see citing works

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

Tennessen, J. A., Bigham, A. W., O’Connor, T. D., Fu, W., Kenny, E. E., Gravel, S., McGee, S., Do, R., Liu, X., Jun, G., et al. (2012) · Science · doi:10.1126/science.1219240 · Cited by 1,613 · see citing works

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., et al. (2011) · Nature · doi:10.1038/nature10423 · Cited by 965 · see citing works

Loss of the FAT1 Tumor Suppressor Promotes Resistance to CDK4/6 Inhibitors via the Hippo Pathway

Li, Z., Razavi, P., Li, Q., Toy, W., Liu, B., Ping, C., Hsieh, W., Sanchez-Vega, F., Brown, D. N., Da Cruz Paula, A. F., et al. (2018) · Cancer Cell · doi:10.1016/j.ccell.2018.11.006 · Cited by 508 · see citing works

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

Genovese, G., Fromer, M., Stahl, E. A., Ruderfer, D. M., Chambert, K., Landén, M., Moran, J. L., Purcell, S. M., Sklar, P., Sullivan, P. F., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4402 · Cited by 444 · see citing works

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 · see citing works

Improved exome prioritization of disease genes through cross-species phenotype comparison

Robinson, P. N., Köhler, S., Oellrich, A., Sanger Mouse Genetics Project, Wang, K., Mungall, C. J., Lewis, S. E., Washington, N., Bauer, S., Seelow, D., et al. (2014) · Genome Research · doi:10.1101/gr.160325.113 · Cited by 375 · see citing works

PERCH: A Unified Framework for Disease Gene Prioritization: HUMAN MUTATION

Feng, B.-J. (2017) · Human Mutation · doi:10.1002/humu.23158 · Cited by 289 · see citing works

Mutations in<i>SYNGAP1</i>Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Berryer, M. H., Hamdan, F. F., Klitten, L. L., Møller, R. S., Carmant, L., Schwartzentruber, J., Patry, L., Dobrzeniecka, S., Rochefort, D., Neugnot-Cerioli, M., et al. (2013) · Human Mutation · doi:10.1002/humu.22248 · Cited by 266 · see citing works

Sequencing of 640,000 exomes identifies <i>GPR75</i> variants associated with protection from obesity

Akbari, P., Gilani, A., Sosina, O., Kosmicki, J. A., Khrimian, L., Fang, Y.-Y., Persaud, T., Garcia, V., Sun, D., Li, A., et al. (2021) · Science · doi:10.1126/science.abf8683 · Cited by 276 · see citing works

The deleterious mutation load is insensitive to recent population history.

Simons, Y. B., Turchin, M. C., Pritchard, J. K., & Sella, G. (2014) · Nature Genetics · doi:10.1038/ng.2896 · Cited by 279 · see citing works

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism

Miraoui, H., Dwyer, A. A., Sykiotis, G. P., Plummer, L., Chung, W., Feng, B., Beenken, A., Clarke, J., Pers, T. H., Dworzynski, P., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.04.008 · Cited by 267 · see citing works

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

Zhong, F., Savage, S. A., Shkreli, M., Giri, N., Jessop, L., Myers, T., Chen, R., Alter, B. P., & Artandi, S. E. (2011) · Genes &amp; Development · doi:10.1101/gad.2006411 · Cited by 262 · see citing works

Mutations in the mammalian target of rapamycin pathway regulators <i>NPRL2</i> and <i>NPRL3</i> cause focal epilepsy

Ricos, M. G., Hodgson, B. L., Pippucci, T., Saidin, A., Ong, Y. S., Heron, S. E., Licchetta, L., Bisulli, F., Bayly, M. A., Hughes, J., et al. (2016) · Annals of Neurology · doi:10.1002/ana.24547 · Cited by 246 · see citing works

Genome-wide characteristics of de novo mutations in autism

Yuen, R. K., Merico, D., Cao, H., Pellecchia, G., Alipanahi, B., Thiruvahindrapuram, B., Tong, X., Sun, Y., Cao, D., Zhang, T., et al. (2016) · npj Genomic Medicine · doi:10.1038/npjgenmed.2016.27 · Cited by 216 · see citing works

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Ghosh, R., Oak, N., & Plon, S. E. (2017) · Genome biology · doi:10.1186/s13059-017-1353-5 · Cited by 233 · see citing works

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Santen, G. W. E., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W. M., van Minderhout, I. J. H. M., Snowdowne, R., van der Lans, C. A. C., Boogaard, M., Linssen, M. M. L., et al. (2013) · Human Mutation · doi:10.1002/humu.22394 · Cited by 221 · see citing works

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Butcher, D. T., Cytrynbaum, C., Turinsky, A. L., Siu, M. T., Inbar-Feigenberg, M., Mendoza-Londono, R., Chitayat, D., Walker, S., Machado, J., Caluseriu, O., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.04.004 · Cited by 200 · see citing works

Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients

Audrézet, M.-P., Cornec-Le Gall, E., Chen, J.-M., Redon, S., Quéré, I., Creff, J., Bénech, C., Maestri, S., Le Meur, Y., & Férec, C. (2012) · Human Mutation · doi:10.1002/humu.22103 · Cited by 183 · see citing works

Common variants associated with general and MMR vaccine–related febrile seizures

Feenstra, B., Pasternak, B., Geller, F., Carstensen, L., Wang, T., Huang, F., Eitson, J. L., Hollegaard, M. V., Svanström, H., Vestergaard, M., et al. (2014) · Nature Genetics · doi:10.1038/ng.3129 · Cited by 152 · see citing works

<i>ARMC5</i>Mutations Are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia

Alencar, G. A., Lerario, A. M., Nishi, M. Y., Mariani, B. M. D. P., Almeida, M. Q., Tremblay, J., Hamet, P., Bourdeau, I., Zerbini, M. C. N., Pereira, M. A. A., et al. (2014) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jc.2013-4237 · Cited by 162 · see citing works

Recessive gene disruptions in autism spectrum disorder

Autism Sequencing Consortium, Doan, R. N., Lim, E. T., De Rubeis, S., Betancur, C., Cutler, D. J., Chiocchetti, A. G., Overman, L. M., Soucy, A., Goetze, S., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0433-8 · Cited by 159 · see citing works

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Wang, X., Wang, H., Sun, V., Tuan, H.-F., Keser, V., Wang, K., Ren, H., Lopez, I., Zaneveld, J. E., Siddiqui, S., et al. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-101558 · Cited by 159 · see citing works

Germline TP53 Variants and Susceptibility to Osteosarcoma

Mirabello, L., Yeager, M., Mai, P. L., Gastier-Foster, J. M., Gorlick, R., Khanna, C., Patiño-Garcia, A., Sierrasesúmaga, L., Lecanda, F., Andrulis, I. L., et al. (2015) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djv101 · Cited by 155 · see citing works

Exome-wide association study on alanine aminotransferase identifies sequence variants in the GPAM and APOE associated with fatty liver disease

Jamialahmadi, O., Mancina, R. M., Ciociola, E., Tavaglione, F., Luukkonen, P. K., Baselli, G., Malvestiti, F., Thuillier, D., Raverdy, V., Männistö, V., et al. (2021) · Gastroenterology · doi:10.1053/j.gastro.2020.12.023 · Cited by 148 · see citing works

Integrated systems analysis reveals a molecular network underlying autism spectrum disorders

Li, J., Shi, M., Ma, Z., Zhao, S., Euskirchen, G., Ziskin, J., Urban, A., Hallmayer, J., & Snyder, M. (2014) · Molecular Systems Biology · doi:10.15252/msb.20145487 · Cited by 132 · see citing works

Germline Mutations in <i>CIDEB</i> and Protection against Liver Disease

Verweij, N., Haas, M. E., Nielsen, J. B., Sosina, O. A., Kim, M., Akbari, P., De, T., Hindy, G., Bovijn, J., Persaud, T., et al. (2022) · New England Journal of Medicine · doi:10.1056/nejmoa2117872 · Cited by 127 · see citing works

Towards precision medicine: advances in computational approaches for the analysis of human variants

Peterson, T. A., Doughty, E., & Kann, M. G. (2013) · Journal of Molecular Biology · doi:10.1016/j.jmb.2013.08.008 · Cited by 123 · see citing works

Variants in saposin D domain of prosaposin gene linked to Parkinson’s disease

Oji, Y., Hatano, T., Ueno, S.-I., Funayama, M., Ishikawa, K.-I., Okuzumi, A., Noda, S., Sato, S., Satake, W., Toda, T., et al. (2020) · Brain · doi:10.1093/brain/awaa064 · Cited by 116 · see citing works

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis

Shepheard, S. R., Parker, M. D., Cooper-Knock, J., Verber, N. S., Tuddenham, L., Heath, P., Beauchamp, N., Place, E., Sollars, E. S. A., Turner, M. R., et al. (2021) · Journal of Neurology, Neurosurgery &amp; Psychiatry · doi:10.1136/jnnp-2020-325014 · Cited by 116 · see citing works

APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer’s disease

Vélez, J. I., Lopera, F., Sepulveda-Falla, D., Patel, H. R., Johar, A. S., Chuah, A., Tobón, C., Rivera, D., Villegas, A., Cai, Y., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2015.177 · Cited by 111 · see citing works

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

Kornak, U., Mademan, I., Schinke, M., Voigt, M., Krawitz, P., Hecht, J., Barvencik, F., Schinke, T., Gießelmann, S., Beil, F. T., et al. (2014) · Brain · doi:10.1093/brain/awt357 · Cited by 109 · see citing works

Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis

Li, Q., Zhao, K., Bustamante, C. D., Ma, X., & Wong, W. H. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0439-8 · Cited by 106 · see citing works

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Bronicki, L. M., Redin, C., Drunat, S., Piton, A., Lyons, M., Passemard, S., Baumann, C., Faivre, L., Thevenon, J., Rivière, J.-B., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.29 · Cited by 105 · see citing works

A Novel Mutation in<i>ELOVL4</i>Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34

Ozaki, K., Doi, H., Mitsui, J., Sato, N., Iikuni, Y., Majima, T., Yamane, K., Irioka, T., Ishiura, H., Doi, K., et al. (2015) · JAMA Neurology · doi:10.1001/jamaneurol.2015.0610 · Cited by 81 · see citing works

A human laterality disorder associated with a homozygous WDR16 deletion

Ta-Shma, A., Perles, Z., Yaacov, B., Werner, M., Frumkin, A., Rein, A. J., & Elpeleg, O. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.265 · Cited by 70 · see citing works

Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations

Johnston, J. J., Lewis, K. L., Ng, D., Singh, L. N., Wynter, J., Brewer, C., Brooks, B. P., Brownell, I., Candotti, F., Gonsalves, S. G., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.04.013 · Cited by 67 · see citing works

GnRH-Deficient Phenotypes in Humans and Mice with Heterozygous Variants in<i>KISS1</i>/<i>Kiss1</i>

Chan, Y.-M., Broder-Fingert, S., Paraschos, S., Lapatto, R., Au, M., Hughes, V., Bianco, S. D. C., Min, L., Plummer, L., Cerrato, F., et al. (2011) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jc.2011-0518 · Cited by 68 · see citing works

Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and “Apparent” Thyroid Dysgenesis

Kühnen, P., Turan, S., Fröhler, S., Güran, T., Abali, S., Biebermann, H., Bereket, A., Grüters, A., Chen, W., & Krude, H. (2014) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jc.2013-2619 · Cited by 63 · see citing works

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway

Di Fruscio, G., Schulz, A., De Cegli, R., Savarese, M., Mutarelli, M., Parenti, G., Banfi, S., Braulke, T., Nigro, V., & Ballabio, A. (2015) · Autophagy · doi:10.1080/15548627.2015.1043077 · Cited by 62 · see citing works

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

Santos-Cortez, R. L. P., Lee, K., Giese, A. P., Ansar, M., Amin-Ud-Din, M., Rehn, K., Wang, X., Aziz, A., Chiu, I., Hussain Ali, R., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu042 · Cited by 58 · see citing works

Frequent mutations in acetylation and ubiquitination sites suggest novel driver mechanisms of cancer

Narayan, S., Bader, G. D., & Reimand, J. (2016) · Genome Medicine · doi:10.1186/s13073-016-0311-2 · Cited by 54 · see citing works

A mutation in ADIPOR1 causes nonsyndromic autosomal dominant retinitis pigmentosa

Zhang, J., Wang, C., Shen, Y., Chen, N., Wang, L., Liang, L., Guo, T., Yin, X., Ma, Z., Zhang, B., et al. (2016) · Human Genetics · doi:10.1007/s00439-016-1730-2 · Cited by 57 · see citing works

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H. E., Bakker, D. P., Barwick, K., Bonfert, M. V., Bönnemann, C. G., Brilstra, E. H., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-020-01020-w · Cited by 47 · see citing works

Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature

Ansar, M., Ebstein, F., Özkoç, H., Paracha, S. A., Iwaszkiewicz, J., Gesemann, M., Zoete, V., Ranza, E., Santoni, F. A., Sarwar, M. T., et al. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa032 · Cited by 44 · see citing works

High Prevalence of Diabetes-Predisposing Variants in MODY Genes Among Danish Women With Gestational Diabetes Mellitus

Gjesing, A. P., Rui, G., Lauenborg, J., Have, C. T., Hollensted, M., Andersson, E., Grarup, N., Sun, J., Quan, S., Brandslund, I., et al. (2017) · Journal of the Endocrine Society · doi:10.1210/js.2017-00040 · Cited by 43 · see citing works

GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability

Bonnet-Brilhault, F., Alirol, S., Blanc, R., Bazaud, S., Marouillat, S., Thépault, R.-A., Andres, C. R., Lemonnier, É., Barthélémy, C., Raynaud, M., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2015.75 · Cited by 41 · see citing works

Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism

Chan, Y.-M., Lippincott, M. F., Butler, J. P., Sidhoum, V. F., Li, C. X., Plummer, L., & Seminara, S. B. (2014) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jc.2014-2233 · Cited by 39 · see citing works

Targeted re-sequencing approach of candidate genes implicates rare potentially functional variants in Tourette Syndrome etiology

Alexander, J., Potamianou, H., Xing, J., Deng, L., Karagiannidis, I., Tsetsos, F., Drineas, P., Tarnok, Z., Rizzo, R., Wolanczyk, T., et al. (2016) · Frontiers in Neuroscience · doi:10.3389/fnins.2016.00428 · Cited by 27 · see citing works

A Mutation in<i>DAOA</i>Modifies the Age of Onset in<i>PSEN1</i>E280A Alzheimer’s Disease

Vélez, J. I., Rivera, D., Mastronardi, C. A., Patel, H. R., Tobón, C., Villegas, A., Cai, Y., Easteal, S., Lopera, F., & Arcos-Burgos, M. (2016) · Neural Plasticity · doi:10.1155/2016/9760314 · Cited by 25 · see citing works

Mild nasal clefting may be predictive for <i>ALX4</i> heterozygotes

Altunoglu, U., Satkın, B., Uyguner, Z. O., & Kayserili, H. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36578 · Cited by 18 · see citing works

Further delineation of putative <i>ACTB</i> loss‐of‐function variants: A 4‐patient series

Baumann, M., Beaver, E. M., Palomares‐Bralo, M., Santos‐Simarro, F., Holzer, P., Povysil, G., Müller, T., Valovka, T., & Janecke, A. R. (2020) · Human Mutation · doi:10.1002/humu.23970 · Cited by 16 · see citing works