A method and server for predicting damaging missense mutations.

Cited by (1,113)

Items 701–800 of 1,113

1. Identification of Cadherin 2 ( CDH2 ) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy
   Bongani M. Mayosi, Maryam Fish, Gasnat Shaboodien, Elisa Mastantuono, Sarah Kraus, Thomas Wieland, Maria‐Christina Kotta, Ashley Chin, Nakita Laing, Ntobeko Ntusi et al. · 2017 · Circulation Cardiovascular Genetics
2. De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus
   Charuta Gavankar Furey, Jungmin Choi, Sheng Chih Jin, Xue Zeng, Andrew T. Timberlake, Carol J. Nelson-Williams, Mohammad Shahid Mansuri, Qiongshi Lu, Daniel Durán, Shreyas Panchagnula et al. · 2018 · Neuron
3. Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites
   Amin H. Nassar, Renato Umeton, Jaegil Kim, Kevin T. Lundgren, Lauren C. Harshman, Eliezer M. Van Allen, Mark A. Preston, Fei Dong, Joaquim Bellmunt B, Kent William Mouw et al. · 2018 · Clinical Cancer Research
4. Variant PADI3 in Central Centrifugal Cicatricial Alopecia
   Liron Malki, Ofer Sarig, Maria-Teresa Romano, Marie‐Claire Méchin, Alon Peled, Mor Pavlovsky, Emily Mira Warshauer, Liat Samuelov, Laura N. Uwakwe, Valeria Briskin et al. · 2019 · New England Journal of Medicine
5. Loss-or gain-of-function mutations in ACOX1 cause axonal loss via different mechanisms
   Chung, Hyung-lok, Wangler, Michael F., Marcogliese, Paul C., Jo, Juyeon, Ravenscroft, Thomas A., Zuo, Zhongyuan, Duraine, Lita, Sadeghzadeh, Sina, Li-Kroeger, David, Schmidt, Robert E. et al. · 2020 · Neuron
6. A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations
   Kaoru Fujinami, Noemi Lois, Alice E. Davidson, Donna S. Mackay, Chris R. Hogg, Edwin M. Stone, Kazushige Tsunoda, Kazuo Tsubota, Catey Bunce, Anthony G. Robson et al. · 2013 · American Journal of Ophthalmology
7. Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy
   Cas Simons, Lachlan D. Rash, Joanna Crawford, Linlin Ma, Ben Cristofori‐Armstrong, David K. Miller, Kelin Ru, Gregory J. Baillie, Yasemin Alanay, Adeline Jacquinet et al. · 2014 · Nature Genetics
8. Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP
   Chang-he Shi, Jonathan Cummings Schisler, Carrie E. Rubel, Song Tan, Bo Song, Holly McDonough, Lei Xu, Andrea L. Portbury, Chengyuan Mao, Cadence A. True et al. · 2013 · Human Molecular Genetics
9. Primary Colorectal Cancers and Their Subsequent Hepatic Metastases Are Genetically Different: Implications for Selection of Patients for Targeted Treatment
   Joost S.P. Vermaat, Isaäc J. Nijman, Marco J. Koudijs, Frank L. Gerritse, Stefan J. Scherer, Michal Mokrý, Wijnand M. Roessingh, Nico R. Lansu, Ewart de Bruijn, Richard van Hillegersberg et al. · 2011 · Clinical Cancer Research
10. Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood
    Minji Byun, Cindy S. Ma, Arzu Akçay, Vincent Pedergnana, Umaimainthan Palendira, Jinjong Myoung, Danielle T. Avery, Yifang Liu, Avinash Abhyankar, Lazaro Lorenzo et al. · 2013 · The Journal of Experimental Medicine
11. Annotating pathogenic non-coding variants in genic regions
    Sahar Gelfman, Quanli Wang, Keisha Melodi McSweeney, Zhong Ren, Francesca La Carpia, Matthew Halvorsen, Kelly Schoch, Fanni Ratzon, Erin L. Heinzen, Michael J. Boland et al. · 2017 · Nature Communications
12. Genetic variation in human drug-related genes
    Charlotta Schärfe, Roman Tremmel, Matthias Georg Schwab, Oliver Kohlbacher, Debora S. Marks · 2017 · Genome Medicine
13. Common variants associated with general and MMR vaccine–related febrile seizures
    Feenstra, Bjarke, Pasternak, Björn, Geller, Frank, Carstensen, Lisbeth, Wang, Tongfei, Huang, Fen, Eitson, Jennifer L, Hollegaard, Mads V, Svanström, Henrik, Vestergaard, Mogens et al. · 2014 · Nature Genetics
14. Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency
    Johann Greil, Tobias Rausch, Thomas Giese, Obul Reddy Bandapalli, Volker Daniel, Isabelle Bekeredjian‐Ding, Adrian M. Stütz, Christoph Drees, Susanne Roth, Jürgen Ruland et al. · 2013 · Journal of Allergy and Clinical Immunology
15. Molecular genetic studies of complex phenotypes
    Ali J. Marian · 2011 · Translational research
16. Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28
    Karen Webster Gripp, Cynthia J. Curry, Ann Haskins Olney, Claudio Sandoval, Jamie Fisher, Jessica X. Chong, Lisa Pilchman, Rebecca Sahraoui, Deborah L. Stabley, Katia Sol‐Church · 2014 · American Journal of Medical Genetics Part A
17. TYK2 Protein-Coding Variants Protect against Rheumatoid Arthritis and Autoimmunity, with No Evidence of Major Pleiotropic Effects on Non-Autoimmune Complex Traits
    Dorothée Diogo, Lisa A. Bastarache, Katherine P. Liao, Robert Graham, Robert S. Fulton, Jeffrey D. Greenberg, Stephen Eyre, John Bowes, Jing Cui, Annette Lee et al. · 2015 · PLoS ONE
18. A unifying theory for general multigenic heterosis: energy efficiency, protein metabolism, and implications for molecular breeding
    Stephen A. Goff · 2010 · New Phytologist
19. A Pleiotropic Missense Variant in SLC39A8 Is Associated With Crohn’s Disease and Human Gut Microbiome Composition
    Dalin Li, Jean–Paul Achkar, Talin Haritunians, Jonathan P. Jacobs, Ken Y. Hui, Mauro D’Amato, Stephan Brand, Graham L Radford‐Smith, Jonas Halfvarson, Jan Hendrik Niess et al. · 2016 · Gastroenterology
20. Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
    Thormann, Anja, Halachev, Mihail, McLaren, William, Moore, David J., Svinti, Victoria, Campbell, Archie, Kerr, Shona M., Tischkowitz, Marc, Hunt, Sarah E., Dunlop, Malcolm G. et al. · 2019 · Nature Communications
21. Mechanosensitive pannexin-1 channels mediate microvascular metastatic cell survival
    Paul W. Furlow, Steven Zhang, T. David Soong, Nils Halberg, Hani Goodarzi, Creed Mangrum, Yushuai Wu, Olivier Elemento, Sohail F. Tavazoie · 2015 · Nature Cell Biology
22. DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations
    Jonàs Juan‐Mateu, Lidia González‐Quereda, Maria José Rodríguez, Manel Baena, Edgard Verdura, Andrés Nascimento, C. Ortez, Montserrat Baiget, P. Gallano · 2015 · PLoS ONE
23. A Novel Germline Mutation in BAP1 Predisposes to Familial Clear-Cell Renal Cell Carcinoma
    Megan N. Farley, Laura S. Schmidt, Jessica L. Mester, Samuel Peña‐Llopis, Andrea Pavía-Jiménez, Alana L. Christie, Cathy D. Vocke, Christopher J. Ricketts, James C. Peterson, Lindsay A. Middelton et al. · 2013 · Molecular Cancer Research
24. Genomic Characterization of Esophageal Squamous Cell Carcinoma Reveals Critical Genes Underlying Tumorigenesis and Poor Prognosis
    Hai-De Qin, Xiaoyu Liao, Yuanbin Chen, Shao-Yi Huang, Wen‐Qiong Xue, Fang-Fang Li, Xiao-Song Ge, De-Qing Liu, Qiuyin Cai, Jirong Long et al. · 2016 · The American Journal of Human Genetics
25. C3 Glomerulopathy: Ten Years' Experience at Mayo Clinic
    Aishwarya Ravindran, Fernando Custodio Fervenza, Richard J. Smith, An S. De Vriese, Sanjeev M. Sethi · 2018 · Mayo Clinic Proceedings
26. Impact of DNA Damage Response and Repair (DDR) Gene Mutations on Efficacy of PD-(L)1 Immune Checkpoint Inhibition in Non–Small Cell Lung Cancer
    Biagio Ricciuti, Gonzalo Recondo, Liam Flinn Spurr, Yvonne Y. Li, Giuseppe Lamberti, Deepti Venkatraman, Renato Umeton, Andrew D. Cherniack, Mizuki Nishino, Lynette Marie Sholl et al. · 2020 · Clinical Cancer Research
27. Guiding questions to avoid data leakage in biological machine learning applications
    J. Bernett, D. Blumenthal, Domink G Grimm, Florian Haselbeck, R. Joeres, Olga V. Kalinina, M. List · 2024 · Nature Methods
28. Genotype–Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update
    Ljubica Caldovic, Iman A. Abdikarim, Sahas Narain, Mendel Tuchman, Hiroki Morizono · 2015 · Journal of genetics and genomics/Journal of Genetics and Genomics
29. ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy
    Tobias B. Haack, Robert Kopajtich, Peter Freisinger, Thomas Wieland, Joanna Rorbach, Thomas J. J. Nicholls, Enrico Baruffini, Anett Walther, Katharina Danhauser, Franz Zimmermann et al. · 2013 · The American Journal of Human Genetics
30. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
    Sandy Chan Hsu, Renee Sears, Roberta Rodrigues de Lemos, Beatriz Quintáns, Alden Huang, Elizabeth Spiteri, Lisette Nevarez, Catherine Mamah, Mayana Zatz, Kerrie D. Pierce et al. · 2013 · Neurogenetics
31. Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort
    Güney Bademci, Joseph M. Foster, Nejat Mahdieh, Mortaza Jabbarpour Bonyadi, Duygu Duman, Filiz Başak Cengiz, Ibis Menéndez, Oscar Diaz‐Horta, Atefeh Shirkavand, Sirous Zeinali et al. · 2015 · Genetics in Medicine
32. Rare variant phasing and haplotypic expression from RNA sequencing with phASER
    S. Castel, P. Mohammadi, W. Chung, Yu-Feng Shen, T. Lappalainen · 2016 · Nature Communications
33. Laying the foundation for genomically-based risk assessment in chronic myeloid leukemia
    on behalf of the International CML Foundation Genomics Alliance, Branford, Susan, Kim, Dennis Dong Hwan, Apperley, Jane F., Eide, Christopher A., Mustjoki, Satu, Ong, S. Tiong, Nteliopoulos, Georgios, Ernst, Thomas, Chuah, Charles et al. · 2019 · Leukemia
34. Reverse engineering of TLX oncogenic transcriptional networks identifies RUNX1 as tumor suppressor in T-ALL
    Giusy Della Gatta, Teresa Palomero, Arianne Pérez-García, Alberto Ambesi‐Impiombato, Mukesh Bansal, Zachary Carpenter, Kim De Keersmaecker, Xavier Solé, Luyao Xu, Elisabeth M. Paietta et al. · 2012 · Nature Medicine
35. Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis
    Daniela Anne Braun, Jennifer A. Lawson, Heon Yung Gee, Jan Halbritter, Shirlee Shril, Weizhen Tan, Deborah R. Stein, Ari J. Wassner, Michael A. Ferguson, Zoran S Gucev et al. · 2016 · Clinical Journal of the American Society of Nephrology
36. Exome-wide association study on alanine aminotransferase identifies sequence variants in the GPAM and APOE associated with fatty liver disease
    Jamialahmadi, Oveis, Mancina, Rosellina Margherita, Ciociola, Ester, Tavaglione, Federica, Luukkonen, Panu K., Baselli, Guido, Malvestiti, Francesco, Thuillier, Dorothée, Raverdy, Violeta, Männistö, Ville et al. · 2021 · Gastroenterology
37. Advances in computational approaches for prioritizing driver mutations and significantly mutated genes in cancer genomes
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38. GRASP v2.0: an update on the Genome-Wide Repository of Associations between SNPs and phenotypes
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39. Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1
    Ariane S. I. Standing, Dessislava Malinova, Ying Hong, Julien Record, DALE A. MOULDING, Michael P. Blundell, Karolin Nowak, Hannah E. Jones, Ebun Omoyinmi, Kimberly C Gilmour et al. · 2016 · The Journal of Experimental Medicine
40. RettBASE: Rett syndrome database update
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41. Whole-Exome Sequencing of Cell-Free DNA Reveals Temporo-spatial Heterogeneity and Identifies Treatment-Resistant Clones in Neuroblastoma
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42. A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
    Niccolò Emanuele Mencacci, Ignacio Rubio‐Agusti, Anselm A. Zdebik, Friedrich Asmus, Marthe H. R. Ludtmann, Mina Ryten, Vincent Plagnol, Ann‐Kathrin Hauser, Sara Bandrés‐Ciga, Conceição Bettencourt et al. · 2015 · The American Journal of Human Genetics
43. Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
    Daniele Merico, Maian Roifman, Ulrich Braunschweig, Ryan K. C. Yuen, Roumiana Alexandrova, Andrea Bates, Brenda Elaine Reid, Thomas Nalpathamkalam, Zhuozhi Wang, Bhooma Thiruvahindrapuram et al. · 2015 · Nature Communications
44. Phen-Gen: combining phenotype and genotype to analyze rare disorders
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45. Human Molecular Genetic and Functional Studies Identify TRIM63 , Encoding Muscle RING Finger Protein 1, as a Novel Gene for Human Hypertrophic Cardiomyopathy
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46. The zinc transporter ZIP12 regulates the pulmonary vascular response to chronic hypoxia
    Lan Zhao, Eduardo Oliver, Klio Maratou, Santosh S. Atanur, Olivier D. Dubois, Emanuele Cotroneo, Chien-Nien Chen, Lei Wang, Cristina Arce, PAULINE L. CHABOSSEAU et al. · 2015 · Nature
47. Joint mouse–human phenome-wide association to test gene function and disease risk
    Xusheng Wang, Ashutosh K. Pandey, Megan K. Mulligan, Evan G. Williams, Khyobeni Mozhui, Zhengsheng Li, Virginija Jovaisaite, L. Darryl Quarles, Zhousheng Xiao, Jinsong Huang et al. · 2016 · Nature Communications
48. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
    Chiara Olcese, Mitali Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Hywel J. Williams, Cara K. Vaughan, Jane D. Hayward, Alice Goldenberg, Richard David Emes et al. · 2017 · Nature Communications
49. Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis
    Joana Rita Chora, Ana Margarida Medeiros, Ana Catarina Alves, Mafalda Bourbon · 2017 · Genetics in Medicine
50. De novo point mutations in patients diagnosed with ataxic cerebral palsy
    Ricardo Parolin Schnekenberg, Emma Perkins, Jack W. Miller, Wayne I. L. Davies, Maria Cristina D’Adamo, Mauro Pessia, Katherine A. Fawcett, David Sims, Elodie Gillard, K Hudspith et al. · 2015 · Brain
51. Somatic aberrations of mismatch repair genes as a cause of microsatellite‐unstable cancers
    Willemina R.R. Geurts-Giele, Celine H. Leenen, Hendrikus Jan Dubbink, Isabelle C. Meijssen, Edward Post, Hein F.B.M. Sleddens, Ernst Johan Kuipers, Anne Goverde, Ans MW van den Ouweland, Margot G. van Lier et al. · 2014 · The Journal of Pathology
52. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
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53. Natural polyphenols as sirtuin 6 modulators
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54. Red fox genome assembly identifies genomic regions associated with tame and aggressive behaviours
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55. A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome
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56. Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation
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57. Genetic Convergence in the Adaptation of Dogs and Humans to the High-Altitude Environment of the Tibetan Plateau
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58. Biallelic DICER1 mutations occur in Wilms tumours
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59. Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused by KIF11 Mutations
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60. Integration of Sequence Data from a Consanguineous Family with Genetic Data from an Outbred Population Identifies PLB1 as a Candidate Rheumatoid Arthritis Risk Gene
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61. Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection
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62. Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells
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63. JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia
    Kaan Boztuǧ, Päivi M. Järvinen, Elisabeth Salzer, Tomas Racek, Sebastian Mönch, Wojciech Garncarz, Edward Michael Gertz, Alejandro A. Schäffer, Aristotelis Antonopoulos, Stuart M. Haslam et al. · 2014 · Nature Genetics
64. The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation
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65. VAAST 2.0: Improved Variant Classification and Disease‐Gene Identification Using a Conservation‐Controlled Amino Acid Substitution Matrix
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66. Molecular-defined clonal evolution in patients with chronic myeloid leukemia independent of the BCR-ABL status
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67. Missense mutations in TENM4 , a regulator of axon guidance and central myelination, cause essential tremor
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68. Genome-wide association study of biologically informed periodontal complex traits offers novel insights into the genetic basis of periodontal disease
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69. NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases
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70. Molecular stratification of endometrioid ovarian carcinoma predicts clinical outcome
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71. An inferred functional impact map of genetic variants in rice.
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72. Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness
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73. TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function
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74. A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter
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75. Association between a common immunoglobulin heavy chain allele and rheumatic heart disease risk in Oceania
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76. Systematic identification of mutations and copy number alterations associated with cancer patient prognosis
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77. Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility
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78. Deleterious Variation in Natural Populations and Implications for Conservation Genetics
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79. FAVOR: functional annotation of variants online resource and annotator for variation across the human genome
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80. Whole‐exome sequencing in 20,197 persons for rare variants in Alzheimer's disease
    Raghavan, Neha S., Brickman, Adam M., Andrews, Howard, Manly, Jennifer J., Schupf, Nicole, Lantigua, Rafael, Wolock, Charles J., Kamalakaran, Sitharthan, Petrovski, Slave, Tosto, Giuseppe et al. · 2018 · Annals of Clinical and Translational Neurology
81. Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
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82. GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region
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83. Rare Variations in IL36RN in Severe Adverse Drug Reactions Manifesting as Acute Generalized Exanthematous Pustulosis
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84. Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19
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85. High Prevalence of Long QT Syndrome–Associated SCN5A Variants in Patients With Early-Onset Lone Atrial Fibrillation
    MORTEN SALLING OLESEN, Lei Yuan, Bo Liang, Anders Gaarsdal Holst, Nikolaj Nielsen, Jonas Bille Nielsen, Paula Louise Hedley, Michael Christiansen, Søren‐Peter Olesen, Stig Haunsø et al. · 2012 · Circulation Cardiovascular Genetics
86. Mutations inGMPPBcause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies
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87. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation
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88. Survey of variation in human transcription factors reveals prevalent DNA binding changes
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