A method and server for predicting damaging missense mutations.

Cited by (1,113)

Items 1,001–1,100 of 1,113

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3. Possible Genetic Predisposition to Lymphedema after Breast Cancer
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4. High-Throughput Sequencing of mGluR Signaling Pathway Genes Reveals Enrichment of Rare Variants in Autism
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5. 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
6. Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures
   Tomioka, Naoko H., Yasuda, Hiroki, Miyamoto, Hiroyuki, Hatayama, Minoru, Morimura, Naoko, Matsumoto, Yoshifumi, Suzuki, Toshimitsu, Odagawa, Maya, Odaka, Yuri S., Iwayama, Yoshimi et al. · 2014 · Nature Communications
7. REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification
   Tian, Yuan, Pesaran, Tina, Chamberlin, Adam, Fenwick, R. Bryn, Li, Shuwei, Gau, Chia-Ling, Chao, Elizabeth C., Lu, Hsiao-Mei, Black, Mary Helen, Qian, Dajun · 2019 · Scientific Reports
8. Insights into disease-associated mutations in the human proteome through protein structural analysis
   Gao, Mu, Zhou, Hongyi, Skolnick, Jeffrey · 2015 · Structure
9. KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
   Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin et al. · 2019 · Genetics in Medicine
10. A catalog of single nucleotide changes distinguishing modern humans from archaic hominins
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11. Functional implications of Neandertal introgression in modern humans
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12. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
    Bronicki, Lucas M, Redin, Claire, Drunat, Severine, Piton, Amélie, Lyons, Michael, Passemard, Sandrine, Baumann, Clarisse, Faivre, Laurence, Thevenon, Julien, Rivière, Jean-Baptiste et al. · 2015 · European Journal of Human Genetics
13. Whole-genome sequence-based analysis of thyroid function
    Taylor, Peter N., Porcu, Eleonora, Chew, Shelby, Campbell, Purdey J., Traglia, Michela, Brown, Suzanne J., Mullin, Benjamin H., Shihab, Hashem A., Min, Josine, Walter, Klaudia et al. · 2015 · Nature Communications
14. In silico functional dissection of saturation mutagenesis: Interpreting the relationship between phenotypes and changes in protein stability, interactions and activity
    Pires, Douglas E. V., Chen, Jing, Blundell, Tom L., Ascher, David B. · 2016 · Scientific Reports
15. A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium
    Gur, R E, Bassett, A S, McDonald-McGinn, D M, Bearden, C E, Chow, E, Emanuel, B S, Owen, M, Swillen, A, Van den Bree, M, Vermeesch, J et al. · 2017 · Molecular Psychiatry
16. Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience
    for the Alzheimer’s Disease Neuroimaging Initiative, Ridge, Perry G., Karch, Celeste M., Hsu, Simon, Arano, Ivan, Teerlink, Craig C., Ebbert, Mark T. W., Gonzalez Murcia, Josue D., Farnham, James M., Damato, Anna R. et al. · 2017 · Genome Medicine
17. Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variation
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18. Identification of novel genetic variants in phosphodiesterase 8B ( <scp> <i>PDE8B</i> </scp> ), a <scp>cAMP</scp> ‐specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours
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19. Resequencing and Association Analysis of the KALRN and EPHB1 Genes And Their Contribution to Schizophrenia Susceptibility
    Kushima, Itaru, Nakamura, Yukako, Aleksic, Branko, Ikeda, Masashi, Ito, Yoshihito, Shiino, Tomoko, Okochi, Tomo, Fukuo, Yasuhisa, Ujike, Hiroshi, Suzuki, Michio et al. · 2012 · Schizophrenia Bulletin
20. Genetic landscape of sporadic unilateral adrenocortical adenomas without PRKACA p.Leu206Arg mutation
    Ronchi, Cristina L., Di Dalmazi, Guido, Faillot, Simon, Sbiera, Silviu, Assié, Guillaume, Weigand, Isabel, Calebiro, Davide, Schwarzmayr, Thomas, Appenzeller, Silke, Rubin, Beatrice et al. · 2016 · The Journal of Clinical Endocrinology &amp; Metabolism
21. Shared genetic etiology underlying Alzheimer’s disease and type 2 diabetes
    Hao, Ke, Di Narzo, Antonio Fabio, Ho, Lap, Luo, Wei, Li, Shuyu, Chen, Rong, Li, Tongbin, Dubner, Lauren, Pasinetti, Giulio Maria · 2015 · Molecular Aspects of Medicine
22. Pathogenesis, epidemiology, diagnosis and clinical aspects of smith-lemli-opitz syndrome
    Bianconi, Simona E, Cross, Joanna L, Wassif, Christopher A, Porter, Forbes D · 2015 · Expert Opinion on Orphan Drugs
23. 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, Kokoro, Doi, Hiroshi, Mitsui, Jun, Sato, Nozomu, Iikuni, Yoichiro, Majima, Takamasa, Yamane, Kiyomi, Irioka, Takashi, Ishiura, Hiroyuki, Doi, Koichiro et al. · 2015 · JAMA Neurology
24. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
    Barøy, Tuva, Koster, Janet, Strømme, Petter, Ebberink, Merel S., Misceo, Doriana, Ferdinandusse, Sacha, Holmgren, Asbjørn, Hughes, Timothy, Merckoll, Else, Westvik, Jostein et al. · 2015 · Human Molecular Genetics
25. Predicting the pathogenicity of missense variants using features derived from AlphaFold2
    Schmidt, Axel, Röner, Sebastian, Mai, Karola, Klinkhammer, Hannah, Kircher, Martin, Ludwig, Kerstin U · 2023 · Bioinformatics
26. De novo mutations from whole exome sequencing in neurodevelopmental and psychiatric disorders: From discovery to application
    Wang, Weidi, Corominas, Roser, Lin, Guan Ning · 2019 · Frontiers in Genetics
27. Path toward Precision Oncology: Review of Targeted Therapy Studies and Tools to Aid in Defining “Actionability” of a Molecular Lesion and Patient Management Support
    Chae, Young Kwang, Pan, Alan P., Davis, Andrew A., Patel, Sandip P., Carneiro, Benedito A., Kurzrock, Razelle, Giles, Francis J. · 2017 · Molecular Cancer Therapeutics
28. A genetic interaction analysis identifies cancer drivers that modify EGFR dependency
    Liao, Sida, Davoli, Teresa, Leng, Yumei, Li, Mamie Z., Xu, Qikai, Elledge, Stephen J. · 2017 · Genes &amp; Development
29. On the identification of low allele frequency mosaic mutations in the brains of Alzheimer’s disease patients
    Sala Frigerio, Carlo, Lau, Pierre, Troakes, Claire, Deramecourt, Vincent, Gele, Patrick, Van Loo, Peter, Voet, Thierry, De Strooper, Bart · 2015 · Alzheimer's &amp; Dementia
30. Deleterious Alleles in the Human Genome Are on Average Younger Than Neutral Alleles of the Same Frequency
    Kiezun, Adam, Pulit, Sara L., Francioli, Laurent C., van Dijk, Freerk, Swertz, Morris, Boomsma, Dorret I., van Duijn, Cornelia M., Slagboom, P. Eline, van Ommen, G. J. B., Wijmenga, Cisca et al. · 2013 · PLoS Genetics
31. The Roles of FMRP-Regulated Genes in Autism Spectrum Disorder: Single- and Multiple-Hit Genetic Etiologies
    Steinberg, Julia, Webber, Caleb · 2013 · The American Journal of Human Genetics
32. Genome-wide significant regions in 43 Utah high-risk families implicate multiple genes involved in risk for completed suicide
    Coon, Hilary, Darlington, Todd M., DiBlasi, Emily, Callor, W. Brandon, Ferris, Elliott, Fraser, Alison, Yu, Zhe, William, Nancy, Das, Sujan C., Crowell, Sheila E. et al. · 2020 · Molecular Psychiatry
33. Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
    Kröll‐Hermi, Ariane, Ebstein, Frédéric, Stoetzel, Corinne, Geoffroy, Véronique, Schaefer, Elise, Scheidecker, Sophie, Bär, Séverine, Takamiya, Masanari, Kawakami, Koichi, Zieba, Barbara A et al. · 2020 · EMBO Molecular Medicine
34. Tyro3 modulates Mertk-associated retinal degeneration
    Vollrath, Douglas, Yasumura, Douglas, Benchorin, Gillie, Matthes, Michael T., Feng, Wei, Nguyen, Natalie M., Sedano, Cecilia D., Calton, Melissa A., LaVail, Matthew M. · 2015 · PLoS Genetics
35. NFIB haploinsufficiency is associated with intellectual disability and macrocephaly
    Schanze, Ina, Bunt, Jens, Lim, Jonathan W.C., Schanze, Denny, Dean, Ryan J., Alders, Marielle, Blanchet, Patricia, Attié-Bitach, Tania, Berland, Siren, Boogert, Steven et al. · 2018 · The American Journal of Human Genetics
36. DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland
    Kizys, Marina M L, Louzada, Ruy A, Mitne-Neto, Miguel, Jara, Jessica R, Furuzawa, Gilberto K, de Carvalho, Denise P, Dias-da-Silva, Magnus R, Nesi-França, Suzana, Dupuy, Corinne, Maciel, Rui M B · 2017 · The Journal of Clinical Endocrinology &amp; Metabolism
37. 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
38. Frequent mutations in acetylation and ubiquitination sites suggest novel driver mechanisms of cancer
    Narayan, Soumil, Bader, Gary D., Reimand, Jüri · 2016 · Genome Medicine
39. Current perspectives in autism spectrum disorder: from genes to therapy
    Chahrour, Maria, O'Roak, Brian J., Santini, Emanuela, Samaco, Rodney C., Kleiman, Robin J., Manzini, M. Chiara · 2016 · The Journal of Neuroscience
40. Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis
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41. Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms
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42. Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set
    Stein, David, Kars, Meltem Ece, Wu, Yiming, Bayrak, Çiğdem Sevim, Stenson, Peter D., Cooper, David N., Schlessinger, Avner, Itan, Yuval · 2023 · Genome Medicine
43. Poly‐gene fusion transcripts and chromothripsis in prostate cancer
    Wu, Chunxiao, Wyatt, Alexander W., McPherson, Andrew, Lin, Dong, McConeghy, Brian J., Mo, Fan, Shukin, Robert, Lapuk, Anna V., M. Jones, Steven J., Zhao, Yongjun et al. · 2012 · Genes, Chromosomes and Cancer
44. Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with <i>B4GALT7</i> deficiency and review of the literature
    Guo, Michael H., Stoler, Joan, Lui, Julian, Nilsson, Ola, Bianchi, Diana W., Hirschhorn, Joel N., Dauber, Andrew · 2013 · American Journal of Medical Genetics Part A
45. Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis
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46. TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability
    Heimer, Gali, Oz-Levi, Danit, Eyal, Eran, Edvardson, Shimon, Nissenkorn, Andreea, Ruzzo, Elizabeth K., Szeinberg, Amir, Maayan, Channa, Mai-Zahav, Meir, Efrati, Ori et al. · 2016 · European Journal of Paediatric Neurology
47. Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening
    Handt, Maximilian, Epplen, Andrea, Hoffjan, Sabine, Mese, Kemal, Epplen, Jörg T., Dekomien, Gabriele · 2014 · Molecular and Cellular Probes
48. Meta-Analysis of Genome-Wide Association Studies
    de Bakker, Paul I.W., Neale, Benjamin M., Daly, Mark J. · 2010 · Cold Spring Harbor Protocols
49. Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature
    Ansar, Muhammad, Ebstein, Frédéric, Özkoç, Hayriye, Paracha, Sohail A, Iwaszkiewicz, Justyna, Gesemann, Matthias, Zoete, Vincent, Ranza, Emmanuelle, Santoni, Federico A, Sarwar, Muhammad T et al. · 2020 · Human Molecular Genetics
50. Genetic Determinants of Circulating Interleukin-1 Receptor Antagonist Levels and Their Association With Glycemic Traits
    Herder, Christian, Nuotio, Marja-Liisa, Shah, Sonia, Blankenberg, Stefan, Brunner, Eric J., Carstensen, Maren, Gieger, Christian, Grallert, Harald, Jula, Antti, Kähönen, Mika et al. · 2014 · Diabetes
51. Ehlers-Danlos Syndrome Caused by Biallelic<i>TNXB</i>Variants in Patients with Congenital Adrenal Hyperplasia
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52. Early Onset Retinal Dystrophy Due to Mutations in<i>LRAT</i>: Molecular Analysis and Detailed Phenotypic Study
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53. Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms
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54. MEK inhibitors block growth of lung tumours with mutations in ataxia–telangiectasia mutated
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55. A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases
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56. Dravet syndrome-associated mutations in<i>GABRA1</i>,<i>GABRB2</i>and<i>GABRG2</i>define the genetic landscape of defects of GABAA receptors
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57. High Prevalence of Diabetes-Predisposing Variants in MODY Genes Among Danish Women With Gestational Diabetes Mellitus
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58. GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability
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59. An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease
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60. Mitochondrial DNA Variant Discovery in Normal-Tension Glaucoma Patients by Next-Generation Sequencing
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61. <i>PSMD12</i> haploinsufficiency in a neurodevelopmental disorder with autistic features
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62. Genome-Wide Association Analysis Reveals QTL and Candidate Mutations Involved in White Spotting in Cattle
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63. Genes and pathways implicated in tetralogy of Fallot revealed by ultra-rare variant burden analysis in 231 genome sequences
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64. Contribution of <i>APOE</i> Genetic Variants to Dyslipidemia
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65. Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism
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66. Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency
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67. Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database
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68. VIPdb, a genetic variant impact predictor database
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69. Single-cell transcriptogenomics reveals transcriptional exclusion of ENU-mutated alleles
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70. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
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71. Next Generation Protein Structure Predictions and Genetic Variant Interpretation
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72. A gain‐of‐function <i>GRIA2</i> variant associated with neurodevelopmental delay and seizures: Functional characterization and targeted treatment
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73. Exome Sequencing Identified NRG3 as a Novel Susceptible Gene of Hirschsprung’s Disease in a Chinese Population
    Yang, Jun, Duan, Shengyu, Zhong, Rong, Yin, Jieyun, Pu, Jiarui, Ke, Juntao, Lu, Xuzai, Zou, Li, Zhang, Hongmei, Zhu, Zhidong et al. · 2013 · Molecular Neurobiology
74. Kinact: a computational approach for predicting activating missense mutations in protein kinases
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75. High-throughput deep learning variant effect prediction with Sequence UNET
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76. Translating Alzheimer’s disease-associated polymorphisms into functional candidates: a survey of IGAP genes and SNPs
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77. Mitochondrial Sequence Variation in African-American Primary Open-Angle Glaucoma Patients
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78. Differential natural selection of human zinc transporter genes between african and non-African populations.
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79. Two Polymorphic Variants of ABCC1 Selectively Alter Drug Resistance and Inhibitor Sensitivity of the Multidrug and Organic Anion Transporter Multidrug Resistance Protein 1
    Conseil, Gwenaëlle, Cole, Susan P.C. · 2013 · Drug Metabolism and Disposition
80. Two neonatal cholestasis patients with mutations in the <i>SRD5B1</i> (<i>AKR1D1</i>) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment
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81. Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
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82. A Mutation in<i>DAOA</i>Modifies the Age of Onset in<i>PSEN1</i>E280A Alzheimer’s Disease
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83. Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers
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84. Mutations in Proteasome-Related Genes Are Associated with Thyroid Hemiagenesis
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85. A microglia clonal inflammatory disorder in Alzheimer’s disease
    Vicario, Rocio, Fragkogianni, Stamatina, Weber, Leslie, Lazarov, Tomi, Hu, Yang, Hayashi, Samantha Y, Craddock, Barbara, Socci, Nicholas D, Alberdi, Araitz, Baako, Ann et al. · 2025 · eLife
86. Variation in maturity-onset diabetes of the young genes influence response to interventions for diabetes prevention
    Billings, Liana K, Jablonski, Kathleen A, Warner, A Sofia, Cheng, Yu-Chien, McAteer, Jarred B, Tipton, Laura, Shuldiner, Alan R, Ehrmann, David A, Manning, Alisa K, Dabelea, Dana et al. · 2017 · The Journal of Clinical Endocrinology &amp; Metabolism
87. Targeted sequencing of ABCA7 identifies splicing, stop-gain and intronic risk variants for Alzheimer disease
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88. Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals
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