A method and server for predicting damaging missense mutations.

Cited by (1,113)

Items 501–600 of 1,113

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3. Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families
   Zippora Brownstein, Lilach M. Friedman, Hashem Shahin, Varda Oron‐Karni, Nitzan Kol, Amal Abu Rayyan, Thomas Parzefall, Dorit Lev, Stavit A. Shalev, Moshe Frydman et al. · 2011 · Genome biology
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5. Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer
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6. cAMP/CREB-regulated LINC00473 marks LKB1-inactivated lung cancer and mediates tumor growth
   Zirong Chen, Jian‐Liang Li, Shuibin Lin, Chunxia Cao, Nicholas T. Gimbrone, Rongqiang Yang, Dongtao Fu, Miranda B. Carper, Eric B. Haura, Matthew B. Schabath et al. · 2016 · Journal of Clinical Investigation
7. MetaRNN: differentiating rare pathogenic and rare benign missense SNVs and InDels using deep learning
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8. Structure of the homodimeric androgen receptor ligand-binding domain
   Nadal, Marta, Prekovic, Stefan, Gallastegui, Nerea, Helsen, Christine, Abella, Montserrat, Zielinska, Karolina, Gay, Marina, Vilaseca, Marta, Taulès, Marta, Houtsmuller, Adriaan B. et al. · 2017 · Nature Communications
9. CRB1 mutations in inherited retinal dystrophies
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10. Quality control and removal of technical variation of NMR metabolic biomarker data in ~120,000 UK Biobank participants
    Scott C. Ritchie, Praveen Surendran, Savita Karthikeyan, Samuel A. Lambert, Thomas Bolton, Lisa A M Pennells, John Danesh, Emanuele Di Angelantonio, Adam S. Butterworth, Michael Inouye · 2023 · Scientific Data
11. Monogenic diabetes: a gateway to precision medicine in diabetes
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12. Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing
    Mitchell S. Stark, Susan Lesley Woods, Michael G. Gartside, Vanessa Bonazzi, Ken Dutton‐Regester, Lauren G. Aoude, Donald C. Chow, Chris Sereduk, Natalie M. Niemi, Nanyun Tang et al. · 2011 · Nature Genetics
13. Mutations in CCDC 39 and CCDC 40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
    Dinu Antony, Anita Becker-Heck, Maimoona A. Zariwala, Miriam Schmidts, Alexandros Onoufriadis, Mitra Forouhan, Robert Wilson, Theresa Taylor-Cox, Ann L. Dewar, Claire L. Jackson et al. · 2012 · Human Mutation
14. Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
    Elizabeth M. McCormick, Marie T. Lott, Matthew C. Dulik, Li Shen, Marcella Attimonelli, Ornella Vitale, Amel Karaa, Renkui Bai, Daniel Pineda‐Alvarez, Larry N. Singh et al. · 2020 · Human Mutation
15. m6AVar: a database of functional variants involved in m6A modification
    Yueyuan Zheng, Peng Nie, Di Peng, Zhihao He, Mengni Liu, Yubin Xie, Yanyan Miao, Zhixiang Zuo, Jian Min Ren · 2017 · Nucleic Acids Research
16. A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
    Vivien Béziat, Juan Li, Jian‐Xin Lin, Cindy S. Ma, Peng Li, Aziz A. Bousfiha, Isabelle Pellier, Samaneh Zoghi, Safa Barış, Sevgi Keleş et al. · 2018 · Science Immunology
17. Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility
    Chunyu Liu, Haruhiko Miyata, Yang Gao, Yanwei Sha, Shuyan Tang, Zoulan Xu, Marjorie Whitfield, Catherine Patrat, Huan Wu, Emmanuel Dulioust et al. · 2020 · The American Journal of Human Genetics
18. Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
    Matthis Synofzik, Anne S. Soehn, Janina Gburek‐Augustat, Julia Schicks, Kathrin N. Karle, Rebecca Schüle, Tobias B. Haack, Martin Schöning, Saskia Biskup, Sabine Rudnik‐Schöneborn et al. · 2013 · Orphanet Journal of Rare Diseases
19. Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins
    Carmi, Shai, Hui, Ken Y., Kochav, Ethan, Liu, Xinmin, Xue, James, Grady, Fillan, Guha, Saurav, Upadhyay, Kinnari, Ben-Avraham, Dan, Mukherjee, Semanti et al. · 2014 · Nature Communications
20. A comprehensive laboratory‐based program for classification of variants of uncertain significance in hereditary cancer genes
    Julie Malia Eggington, Karla R. Bowles, Katy Moyes, Susan Manley, Lisa E. Esterling, Scott Sizemore, E. Rosenthal, Aaron P. Theisen, Jennifer R. Saam, Christopher Arnell et al. · 2013 · Clinical Genetics
21. Comprehensive Functional Annotation of 77 Prostate Cancer Risk Loci
    Dennis J. Hazelett, Suhn K. Rhie, Malaina Gaddis, Chunli Yan, Daniel L. Lakeland, Simon G. Coetzee, Brian E. Henderson, Houtan Noushmehr, Wendy Cozen, Zsofia Kote‐Jarai et al. · 2014 · PLoS Genetics
22. Novel Calmodulin Mutations Associated With Congenital Arrhythmia Susceptibility
    Naomasa Makita, Nobue Yagihara, Lia Crotti, Christopher N. Johnson, Britt Maria Beckmann, Michelle S. Roh, Daichi Shigemizu, Peter Lichtner, Taisuke Ishikawa, Takeshi Aiba et al. · 2014 · Circulation Cardiovascular Genetics
23. Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
    Glen R. Monroe, Geert Frederix, Sanne M. C. Savelberg, Tamar I. de Vries, Karen J. Duran, Jasper J. van der Smagt, Paulien A. Terhal, Peter M. van Hasselt, Hester Y. Kroes, Nanda M. Verhoeven‐Duif et al. · 2016 · Genetics in Medicine
24. De Novo Coding Variants Are Strongly Associated with Tourette Disorder
    Willsey, A. Jeremy, Fernandez, Thomas V., Yu, Dongmei, King, Robert A., Dietrich, Andrea, Xing, Jinchuan, Sanders, Stephan J., Mandell, Jeffrey D., Huang, Alden Y., Richer, Petra et al. · 2017 · Neuron
25. Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability
    Detelina Grozeva, Keren Carss, Olivera Spasić-Bošković, María‐Isabel Tejada, Jozef Gécz, Marie A Shaw, Mark A Corbett, Eric Haan, Elizabeth M. Thompson, Kathryn L. Friend et al. · 2015 · Human Mutation
26. Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas
    Liwei Zhang, Lee H. Chen, Hong Wan, Rui Ryan Yang, Zhaohui Wang, Jie Feng, Shaohua Yang, Siân Jones, Sizhen Wang, Weixin Zhou et al. · 2014 · Nature Genetics
27. Identification of novel genetic causes of Rett syndrome- like phenotypes
    Fátima Lopes, Mafalda Barbosa, Adam Ameur, Gabriela Soares, Joaquim Sá, Ana Isabel Dias, Guiomar Oliveira, Pedro Cabral, Teresa Padrao Temudo, Eulália Calado et al. · 2016 · Journal of Medical Genetics
28. Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders
    Elaine M. Kenny, Paul Cormican, S Furlong, Elizabeth A. Heron, G Kenny, Ciara Fahey, Eric Kelleher, Sean Ennis, Daniela Tropea, Richard Anney et al. · 2013 · Molecular Psychiatry
29. Association of TMEM106B Gene Polymorphism With Age at Onset in Granulin Mutation Carriers and Plasma Granulin Protein Levels
    Carlos Cruchaga, Caroline Graff, Huei‐Hsin Chiang, Jun Wang, Anthony L. Hinrichs, Noah Spiegel, Sarah E. Bertelsen, Kevin Mayo, Joanne B. Norton, John C. Morris et al. · 2011 · Archives of Neurology
30. From Mouse to Human: Evolutionary Genomics Analysis of Human Orthologs of Essential Genes
    Benjamin Georgi, Benjamin F. Voight, Maja Bućan · 2013 · PLoS Genetics
31. Whole-exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas
    Lauren Michelle Fishbein, Sanika Khare, Bradley Stephen Wubbenhorst, Daniel DeSloover, Kurt P D'Andrea, Shana L. Merrill, Nam Woo Cho, Roger A. Greenberg, Tobias Else, Kathleen T. Montone et al. · 2015 · Nature Communications
32. Dynamic regulation of RNA editing in human brain development and disease
    Taeyoung Hwang, Chul‐Kee Park, Anthony K. L. Leung, Yuan Gao, Thomas M. Hyde, Joel E. Kleinman, Anandita Rajpurohit, Ran Tao, Joo Heon Shin, Daniel R. Weinberger · 2016 · Nature Neuroscience
33. Large meta-analysis of genome-wide association studies identifies five loci for lean body mass
    M. Carola Zillikens, Serkalem Demissie, Yi‐Hsiang Hsu, Laura M. Yerges-Armstrong, Wen‐Chi Chou, Lisette Stolk, Gregory Livshits, Linda Broer, Toby Johnson, Daniel L. Koller et al. · 2017 · Nature Communications
34. Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci
    Xianyong Yin, Lap Sum Chan, Debraj Bose, Anne Jackson, Peter VandeHaar, Adam E. Locke, Christian Fuchsberger, Heather M. Stringham, Ryan Welch, Ketian Yu et al. · 2022 · Nature Communications
35. Global detection of human variants and isoforms by deep proteome sequencing
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36. Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture
    Kim, Stuart K. · 2018 · PLOS ONE
37. Expanding the computational toolbox for mining cancer genomes
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38. Variation of BMP3 Contributes to Dog Breed Skull Diversity
    Jeffrey J. Schoenebeck, Sarah A. Hutchinson, Alexandra Byers, Holly C. Beale, Blake Carrington, Daniel L. Faden, Maud Rimbault, Brennan James Decker, Jeffrey M. Kidd, Raman B. Sood et al. · 2012 · PLoS Genetics
39. Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
    M. Chiara Manzini, Dimira E. Tambunan, R. Sean Hill, Timothy W. Yu, Thomas Michael Maynard, Erin L. Heinzen, Kevin V. Shianna, Christine R. Stevens, Jennifer N. Partlow, Brenda J. Barry et al. · 2012 · The American Journal of Human Genetics
40. Comparative Functional Analysis of DPYD Variants of Potential Clinical Relevance to Dihydropyrimidine Dehydrogenase Activity
    Steven M. Offer, Croix C. Fossum, Natalie J. Wegner, Alexander J. Stuflesser, Gabriel L. Butterfield, Robert B. Diasio · 2014 · Cancer Research
41. Interpretation of Genomic Variants Using a Unified Biological Network Approach
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42. Survival and divergence in a small group: The extraordinary genomic history of the endangered Apennine brown bear stragglers
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43. Characterization and treatment of congenital thrombotic thrombocytopenic purpura
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44. Whole genome sequencing in clinical practice
    Frederik Otzen Bagger, Line Gutte Borgwardt, Andreas Sand Jespersen, Anna Reimer Hansen, Birgitte Bertelsen, Miyako Kodama, Finn Cilius Nielsen · 2024 · BMC Medical Genomics
45. Deep Whole-Genome Sequencing of 100 Southeast Asian Malays
    Lai-Ping Wong, Rick Twee‐Hee Ong, Wan-Ting Poh, Xuanyao Liu, Peng Chen, Ruoying Li, Kevin Lam, Nisha E. Pillai, Kar Seng Sim, Haiyan Xu et al. · 2013 · The American Journal of Human Genetics
46. A new tumor suppressor role for the Notch pathway in bladder cancer
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47. A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms
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48. The landscape of tolerated genetic variation in humans and primates
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49. Mutational analysis of primary central nervous system lymphoma
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50. Molecular Diagnostics of Gliomas Using Next Generation Sequencing of a Glioma‐Tailored Gene Panel
    Angela Zacher, Kerstin Kaulich, Stefanie Stepanow, Marietta Wolter, Karl Köhrer, Jörg Felsberg, Bastian Malzkorn, Guido Reifenberger · 2016 · Brain Pathology
51. SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations
    Manja Meggendorfer, Ulrike Bacher, Tamara Alpermann, Claudia Haferlach, Wolfgang Kern, Carlo B Gambacorti-Passerini, Torsten Haferlach, Susanne Schnittger · 2013 · Leukemia
52. MLL2 and KDM6A mutations in patients with Kabuki syndrome
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53. New loci and coding variants confer risk for age-related macular degeneration in East Asians
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54. Imaging-Based Diagnosis of Autosomal Dominant Polycystic Kidney Disease
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55. Exome sequencing of Finnish isolates enhances rare-variant association power
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56. A Dominant STIM1 Mutation Causes Stormorken Syndrome
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57. New NBIA subtype
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58. Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia
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61. Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines
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62. Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing
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63. Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance
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64. Massively parallel sequencing and rare disease
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66. Multiethnic Genome-Wide Association Study of Cerebral White Matter Hyperintensities on MRI
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67. Genome-wide association study identifies multiple susceptibility loci for multiple myeloma
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68. Big Data Analytics for Genomic Medicine
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69. Bioinformatics for Clinical Next Generation Sequencing
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71. The evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy
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72. Polymerase ɛ ( POLE ) mutations in endometrial cancer: Clinical outcomes and implications for L ynch syndrome testing
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73. KLF2 mutation is the most frequent somatic change in splenic marginal zone lymphoma and identifies a subset with distinct genotype
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74. Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27
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75. Evolutionary genetic dissection of human interferons
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76. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features
    Raphaël Carapito, Martina Konantz, Catherine Paillard, Zhichao Miao, Angélique Pichot, Magalie S. Leduc, Yaping Yang, Katie Lee Bergstrom, Donald H. Mahoney, Deborah L. Shardy et al. · 2017 · Journal of Clinical Investigation
77. Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data
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78. Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype
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79. TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children
    Maoxiang Qian, Xueyuan Cao, Meenakshi Devidas, Wenjian Yang, Cheng Cheng, Yunfeng E. Dai, Andrew J. Carroll, Nyla A. Heerema, Hui Zhang, Takaya Moriyama et al. · 2018 · Journal of Clinical Oncology
80. The status of the human gene catalogue
    Paulo Amaral, Sílvia Carbonell Sala, Francisco M. De La Vega, Tiago Faial, Adam Frankish, T Gingeras, Roderic Guigó, Jennifer Harrow, Artemis G. Hatzigeorgiou, Rory Johnson et al. · 2023 · Nature
81. Embeddings from protein language models predict conservation and variant effects
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82. Naturally occurring melanomas in dogs as models for non‐ UV pathways of human melanomas
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83. A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis
    Yee Him Cheung, Tenzin Gayden, Philippe M. Campeau, Charles A. LeDuc, Donna Russo, Văn Hùng Nguyễn, Jiancheng Guo, Ming Qi, Yanfang Guan, Steffen Albrecht et al. · 2013 · The American Journal of Human Genetics
84. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
    GEMO Study Collaborators, Laura Fachal, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Hugues Aschard, Jonathan Beesley, Daniel R. Barnes, Jamie Allen et al. · 2020 · Nature Genetics
85. Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma
    Ziad Bakouny, David A. Braun, Sachet Ashok Shukla, Wenting Pan, Xin Yuan Gao, Yue Hou, Abdallah Flaifel, Stephen Tang, Alice Bosma-Moody, Meng Xiao He et al. · 2021 · Nature Communications
86. Common and rare variants associated with kidney stones and biochemical traits
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87. Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumour
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88. Ccbe1 regulates Vegfc-mediated induction of Vegfr3 signaling during embryonic lymphangiogenesis
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89. Novel Loci for Metabolic Networks and Multi-Tissue Expression Studies Reveal Genes for Atherosclerosis
    Michael Inouye, Samuli Ripatti, Johannes Kettunen, Leo‐Pekka Lyytikäinen, Niku Oksala, Pirkka‐Pekka Laurila, Antti J. Kangas, Pasi Soininen, Markku J. Savolainen, Jorma S.A. Viikari et al. · 2012 · PLoS Genetics
90. A versatile polypharmacology platform promotes cytoprotection and viability of human pluripotent and differentiated cells
    Yu Chen, Carlos A. Tristan, Lu Chen, Vukasin M. Jovanovic, Claire E Malley, Pei‐Hsuan Chu, Seungmi Ryu, Tao Deng, Pinar Ormanoglu, Dingyin Tao et al. · 2021 · Nature Methods
91. ECNet is an evolutionary context-integrated deep learning framework for protein engineering
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92. Rare Germline Mutations Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma
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