A method and server for predicting damaging missense mutations.

Cited by (1,113)

Items 401–500 of 1,113

1. Settling the score: variant prioritization and Mendelian disease
   Karen L Eilbeck, Aaron R. Quinlan, Mark D. Yandell · 2017 · Nature Reviews Genetics
2. Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk
   Ben Zhang, Colorectal Transdisciplinary (CORECT) Study, Colon Cancer Family Registry (CCFR), Wei-Hua Jia, Koichi Matsuda, Sun‐Seog Kweon, Keitaro Matsuo, Yong-Bing Xiang, Aesun Shin, Sun Ha Jee et al. · 2014 · Nature Genetics
3. PON-P2: Prediction Method for Fast and Reliable Identification of Harmful Variants
   Abhishek Niroula, Siddhaling Urolagin, Mauno Vihinen · 2015 · PLoS ONE
4. Comprehensive characterization of protein–protein interactions perturbed by disease mutations
   Feixiong Cheng, Junfei Zhao, Yang Wang, Weiqiang Lü, Zehui Liu, Yadi Zhou, William R. Martin, Rui‐Sheng Wang, Jin Yan Huang, Tong Hao et al. · 2021 · Nature Genetics
5. Novel somatic and germline mutations in intracranial germ cell tumours
   Linghua Wang, Shigeru Yamaguchi, Matthew D. Burstein, Keita Terashima, Kyle Chang, Ho‐Keung Ng, Hideo Nakamura, Zongxiao He, HarshaVardhan Doddapaneni, Lora R Lewis et al. · 2014 · Nature
6. High-performance web services for querying gene and variant annotation
   Jiwen Xin, Adam Mark, Cyrus Afrasiabi, Ginger Tsueng, Moritz Juchler, Nikhil Gopal, Gregory S. Stupp, Tim Putman, Benjamin J. Ainscough, Obi L. Griffith et al. · 2016 · Genome biology
7. Exploring the Impact of Single-Nucleotide Polymorphisms on Translation
   Francis Robert, Jerry Pelletier · 2018 · Frontiers in Genetics
8. Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed
   Hicks, Stephanie, Wheeler, David A., Plon, Sharon E., Kimmel, Marek · 2011 · Human Mutation
9. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5
   Peter Russell Baker, Marisa W. Friederich, Michael A. Swanson, Tamim H. Shaikh, Kaustuv Bhattacharya, Gunter H. Scharer, Joseph K. Aicher, Geralyn Creadon‐Swindell, Elizabeth A. Geiger, Kenneth N. Maclean et al. · 2013 · Brain
10. Mutation Analysis of Cell-Free DNA and Single Circulating Tumor Cells in Metastatic Breast Cancer Patients with High Circulating Tumor Cell Counts
    Jacqui Shaw, David S. Guttery, Allison Hills, Daniel Fernández-García, Karen Page, Brenda Maria Rosales, Kate S. Goddard, Robert K. Hastings, Jinli Luo, Olivia Ogle et al. · 2016 · Clinical Cancer Research
11. Severe hypertriglyceridemia is primarily polygenic
    Dron, Jacqueline S., Wang, Jian, Cao, Henian, McIntyre, Adam D., Iacocca, Michael A., Menard, Jyler R., Movsesyan, Irina, Malloy, Mary J., Pullinger, Clive R., Kane, John P. et al. · 2019 · Journal of Clinical Lipidology
12. Comparison of predicted and actual consequences of missense mutations
    Lisa A. Miosge, Matthew A. Field, Yovina Sontani, Vicky Cho, Simon Johnson, Anna Palkova, Bhavani Balakishnan, Rong Liang, Yafei Zhang, Stephen Lyon et al. · 2015 · Proceedings of the National Academy of Sciences
13. The MOGE(S) Classification of Cardiomyopathy for Clinicians
    Eloisa Arbustini, Navneet Narula, Luigi Tavazzi, Alessandra Serio, Maurizia Grasso, Valentina Favalli, Riccardo Bellazzi, Jamil A. Tajik, Robert O. Bonow, Valentı́n Fuster et al. · 2014 · Journal of the American College of Cardiology
14. A public resource facilitating clinical use of genomes
    Mad Price Ball, Joseph V. Thakuria, Alexander Wait Zaranek, Tom Clegg, Abraham M. Rosenbaum, Xiaodi Wu, Misha H. Angrist, Jong Bhak, Jason R Bobe, Matthew J. Callow et al. · 2012 · Proceedings of the National Academy of Sciences
15. Ultra-rare genetic variation in common epilepsies: a case-control sequencing study
    Andrew S. Allen, Susannah T. Bellows, Samuel Frank Berkovic, Joshua Bridgers, Rosemary Burgess, Gianpiero L. Cavalleri, Seo‐Kyung Chung, Patrick Cossette, Norman Delanty, Dennis Dlugos et al. · 2017 · The Lancet Neurology
16. Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
    Santen, Gijs W.E., Aten, Emmelien, Vulto-van Silfhout, Anneke T., Pottinger, Caroline, van Bon, Bregje W.M., van Minderhout, Ivonne J.H.M., Snowdowne, Ronelle, van der Lans, Christian A.C., Boogaard, Merel, Linssen, Margot M.L. et al. · 2013 · Human Mutation
17. Genome-Wide Analysis Uncovers Novel Recurrent Alterations in Primary Central Nervous System Lymphomas
    Esteban Braggio, Scott Van Wier, Juhi Ojha, Ellen Darcy McPhail, Yan W. Asmann, Jan B. Egan, Jackline de Paula Ayres-Silva, David Schiff, M. Beatriz S. Lopes, Paul A. Decker et al. · 2015 · Clinical Cancer Research
18. Deep sequencing of the MHC region in the Chinese population contributes to studies of complex disease
    Fusheng Zhou, Hongzhi Cao, Xianbo Zuo, Tao Zhang, Xiaoguang Zhang, Xiaomin Liu, Ricong Xu, Gang Chen, Xiaodong Zheng, Xiaodong Zheng et al. · 2016 · Nature Genetics
19. Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia
    Hirotoshi Sakaguchi, Yusuke Okuno, Hideki Muramatsu, Kenichi Yoshida, Yuichi Shiraishi, Mariko Takahashi, Ayana Kon, Masashi Sanada, Kenichi Chiba, Hiroko Tanaka et al. · 2013 · Nature Genetics
20. A large-scale screen for coding variants predisposing to psoriasis
    Huayang Tang, Xin Jin, Yang Li, Hui Jiang, Xianfa Tang, Xu Yang, Hui Cheng, Ying Qiu, Gang Chen, Junpu Mei et al. · 2013 · Nature Genetics
21. Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development
    Ruth M. Baxter, Valerie A. Arboleda, Hane Lee, Hayk Barseghyan, Margaret P Adam, Patricia Y. Fechner, Renee Bargman, Catherine E. Keegan, Sharon H. Travers, Susan L. Schelley et al. · 2014 · The Journal of Clinical Endocrinology & Metabolism
22. Identifying driver mutations in sequenced cancer genomes: computational approaches to enable precision medicine
    Benjamin J. Raphael, Jason R. Dobson, Layla Oesper, Fabio Vandin · 2014 · Genome Medicine
23. Ranking non-synonymous single nucleotide polymorphisms based on disease concepts
    Hashem A. Shihab, Julian Gough, Matthew E. Mort, D.N. Cooper, Ian N.M. Day, Tom R. Gaunt · 2014 · Human Genomics
24. Performance evaluation of pathogenicity-computation methods for missense variants
    Jinchen Li, Tingting Zhao, Yi Zhang, Kun Zhang, Leisheng Shi, Yun Chen, Xingxing Wang, Zhongsheng Sun · 2018 · Nucleic Acids Research
25. Exome and genome sequencing for inborn errors of immunity
    Isabelle Meyts, Barbara Bosch, Alexandre Bolze, Bertrand Boisson, Yuval Itan, Aziz Belkadi, Vincent Pedergnana, Leen Moens, Capucine Pïcard, Aurélie Cobat et al. · 2016 · Journal of Allergy and Clinical Immunology
26. Genome-wide characteristics of de novo mutations in autism
    Yuen, Ryan KC, Merico, Daniele, Cao, Hongzhi, Pellecchia, Giovanna, Alipanahi, Babak, Thiruvahindrapuram, Bhooma, Tong, Xin, Sun, Yuhui, Cao, Dandan, Zhang, Tao et al. · 2016 · npj Genomic Medicine
27. Genetic Costs of Domestication and Improvement
    Moyers, Brook T, Morrell, Peter L, McKay, John K · 2018 · Journal of Heredity
28. Rare-variant collapsing analyses for complex traits: guidelines and applications
    Gundula Povysil, Slavé Petrovski, Joseph A. Hostyk, Vimla S. Aggarwal, Andrew S. Allen, David B. Goldstein · 2019 · Nature Reviews Genetics
29. Molecular correlates of cisplatin-based chemotherapy response in muscle invasive bladder cancer by integrated multi-omics analysis
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30. Monogenic variants in dystonia: an exome-wide sequencing study
    Michael Zech, Robert Jech, Sylvia Boesch, Matěj Škorvánek, Sandrina Weber, Matias Wagner, Chen Zhao, Angela Jochim, Ján Necpál, Yasemin Dincer et al. · 2020 · The Lancet Neurology
31. New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants
    Charlotte Andreasen, Jonas Bille Nielsen, Lena Refsgaard, Anders Gaarsdal Holst, Alex Hørby Christensen, Laura Andreasen, Ahmad Sajadieh, Stig Haunsø, Jesper Hastrup Svendsen, MORTEN SALLING OLESEN · 2013 · European Journal of Human Genetics
32. Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge
    Freeze, Hudson H. · 2013 · Journal of Biological Chemistry
33. Deep Resequencing of GWAS Loci Identifies Rare Variants in CARD9, IL23R and RNF186 That Are Associated with Ulcerative Colitis
    Mélissa Beaudoin, Philippe Goyette, Gabrielle Boucher, Ken Sin Lo, Manuel A. Rivas, Christine R. Stevens, Azadeh Alikashani, Martin Ladouceur, David Ellinghaus, Leif Törkvist et al. · 2013 · PLoS Genetics
34. Opportunities and challenges of whole-genome and -exome sequencing
    Britt‐Sabina Petersen, Broder Fredrich, Marc P. Hoeppner, David Ellinghaus, André Franke · 2017 · BMC Genetics
35. Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency
    Nicholas Hernandez, Isabelle Melki, Huie Jing, Tanwir Habib, Susie S.Y. Huang, Jeffrey J. Danielson, Tomasz Kula, Scott B. Drutman, Serkan Belkaya, Vimel Rattina et al. · 2018 · The Journal of Experimental Medicine
36. Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands
    Ilan Weinreb, Salvatore Piscuoglio, Luciano Gastón Martelotto, Daryl M. Waggott, Charlotte K.Y. Ng, Bayardo Perez‐Ordoñez, Nicholas J. Harding, Javier A. Alfaro, Kenneth C Chu, Agnes J. Viale et al. · 2014 · Nature Genetics
37. Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database
    Jinchen Li, Tao Cai, Yi Wei Jiang, Huiqian Chen, Xin He, Chao Chen, Xianfeng Li, Qianzhi Shao, Ran Xia, Zhongshan Li et al. · 2015 · Molecular Psychiatry
38. Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles
    Ella R. Thompson, Maria Doyle, Georgina L. Ryland, Simone M. Rowley, David Y.H. Choong, Richard W. Tothill, Heather Thorne, kConFab, Daniel R. Barnes, Jason Li et al. · 2012 · PLoS Genetics
39. ASXL1 exon 12 mutations are frequent in AML with intermediate risk karyotype and are independently associated with an adverse outcome
    Susanne Schnittger, Christiane Eder, Sabine Jeromin, Tamara Alpermann, Annette Fasan, Vera Grossmann, Alexander Kohlmann, Thomas Illig, N. Klopp, H.‐Erich Wichmann et al. · 2012 · Leukemia
40. High-throughput Phenotyping of Lung Cancer Somatic Mutations
    Alice H. Berger, Angela Norie Brooks, Xiaoyun Wu, Yashaswi Shrestha, Candace R. Chouinard, Federica Piccioni, Mukta Bagul, Atanas Kamburov, Marcin B. Imielinski, Larson J. Hogstrom et al. · 2016 · Cancer Cell
41. Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function
    Ender Karaca, Stefan Weitzer, Davut Pehli̇van, Hiroshi Shiraishi, Tasos Gogakos, Toshikatsu Hanada, Shalini N. Jhangiani, Wojciech K. Wiszniewski, Marjorie A. Withers, Ian M. Campbell et al. · 2014 · Cell
42. Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically
    Jian Wang, Jacqueline S. Dron, Matthew R. Ban, John F. Robinson, Adam D. McIntyre, Maher Alazzam, Pei Zhao, Allison Ann Dilliott, Henian Cao, Murray W. Huff et al. · 2016 · Arteriosclerosis Thrombosis and Vascular Biology
43. Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
    Lisa A. Bastarache, Jacob Hughey, Scott Joseph Hebbring, Joy E. Marlo, Wanke Zhao, Wan‐Ting Ho, Sara L. Van Driest, Tracy L. McGregor, Jonathan D. Mosley, Quinn Stanton Wells et al. · 2018 · Science
44. Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders
    Bahareh Rabbani, Nejat Mahdieh, Kazuyoshi Hosomichi, Hirofumi Nakaoka, Ituro Inoue · 2012 · Journal of Human Genetics
45. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets
    Christopher A. Wassif, Joanna Cross, James Iben, Luis Sánchez‐Pulido, Antony Cougnoux, Frances M. Platt, Daniel S. Ory, Chris Paul Ponting, Joan Wilson, Leslie G. Biesecker et al. · 2015 · Genetics in Medicine
46. Smarca4 ATPase mutations disrupt direct eviction of PRC1 from chromatin
    Benjamin Z. Stanton, H. Courtney Hodges, Joseph P. Calarco, Simon M. G. Braun, Wai Lim Ku, Cigall Kadoch, Keji Zhao, Gerald R. Crabtree · 2016 · Nature Genetics
47. Quantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data
    Vanessa E. Gray, Ronald J. Hause, Jens Luebeck, Jay Shendure, Douglas M. Fowler · 2017 · Cell Systems
48. The origins and genetic interactions of KRAS mutations are allele- and tissue-specific
    Cook, Joshua H., Melloni, Giorgio E. M., Gulhan, Doga C., Park, Peter J., Haigis, Kevin M. · 2021 · Nature Communications
49. Mutations in DCHS1 cause mitral valve prolapse
    Ronen Y. Durst, Kimberly Sauls, David S. Peal, Annemarieke deVlaming, Katelynn A. Toomer, Maire Leyne, Monica Salani, Michael E. Talkowski, Harrison Brand, Maelle Perrocheau et al. · 2015 · Nature
50. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
    Saskia Brigitte Wortmann, Frédéric Maxime Vaz, Thatjana Gardeitchik, Lisenka E.L.M. Vissers, G. Herma Renkema, Janneke H. M. Schuurs-Hoeijmakers, Wim Kulik, Martin M. Y. Lammens, Christin Christin, Leo A. J. Kluijtmans et al. · 2012 · Nature Genetics
51. Learning protein fitness models from evolutionary and assay-labeled data
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52. Untitled work
    2023 · 10.1101/2023.12.07.570727
53. Identification of somatic mutations in non-small cell lung carcinomas using whole-exome sequencing
    Pengyuan Liu, Carl Morrison, Liang Wang, Donghai Xiong, Peter T. Vedell, Peng Cui, Xing Hua, Feng Hua Ding, Yan Lü, Michael A. James et al. · 2012 · Carcinogenesis
54. NSD1 mutations generate a genome-wide DNA methylation signature
    Sanaa Choufani, Cheryl S. Cytrynbaum, Brian Hon‐Yin Chung, Andrei L. Turinsky, Daria Grafodatskaya, Youxi Chen, Ana S.A. Cohen, Lucie Dupuis, Darci T. Butcher, M. Siu et al. · 2015 · Nature Communications
55. A systematic review and standardized clinical validity assessment of male infertility genes
    Manon S. Oud, Ludmila Voložonoka, Roos Marthe Smits, Lisenka E.L.M. Vissers, Liliana Ramos, Joris A. Veltman · 2019 · Human Reproduction
56. Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia
    Duncan S. Palmer, Daniel P. Howrigan, Sinéad B. Chapman, Rolf Adolfsson, Nicholas James Bass, Douglas Blackwood, Marco P. Boks, Chia‐Yen Chen, Claire L. Churchhouse, Aiden Peter Corvin et al. · 2022 · Nature Genetics
57. Multicenter Feasibility Study of Tumor Molecular Profiling to Inform Therapeutic Decisions in Advanced Pediatric Solid Tumors: The Individualized Cancer Therapy (iCat) Study
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58. Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis
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59. Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia
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60. Whole-genome sequencing of the snub-nosed monkey provides insights into folivory and evolutionary history
    Xuming Zhou, Boshi Wang, Qi Pan, Jinbo Zhang, Sudhir Kumar, Xiaoqing Sun, Zhijin Liu, Huijuan Pan, Yu Lin, Guangjian Liu et al. · 2014 · Nature Genetics
61. Loss-of-Function Variants in Schizophrenia Risk and SETD1A as a Candidate Susceptibility Gene
    Takata, Atsushi, Xu, Bin, Ionita-Laza, Iuliana, Roos, J. Louw, Gogos, Joseph A., Karayiorgou, Maria · 2014 · Neuron
62. Genomic legacy of the African cheetah, Acinonyx jubatus
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63. Assessment of computational methods for predicting the effects of missense mutations in human cancers
    Florian Gnad, Albion Baucom, Kiran Mukhyala, Gerard Manning, Zemin Zhang · 2013 · BMC Genomics
64. ColoSeq Provides Comprehensive Lynch and Polyposis Syndrome Mutational Analysis Using Massively Parallel Sequencing
    Colin C. Pritchard, Christina Smith, Stephen J. Salipante, Ming K. Lee, Anne Thornton, Alex S. Nord, Cassandra Gulden, Sonia S. Kupfer, Elizabeth M. Swisher, Robin L. Bennett et al. · 2012 · Journal of Molecular Diagnostics
65. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
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66. Prevalence and detection of low-allele-fraction variants in clinical cancer samples
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67. Whole-Exome Sequencing in Adults With Chronic Kidney Disease
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68. Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia
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69. Circulating tumor DNA analysis depicts subclonal architecture and genomic evolution of small cell lung cancer
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70. PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy
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72. SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome
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73. RNF43 germline and somatic mutation in serrated neoplasia pathway and its association with BRAF mutation
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75. C57BL/6N Mutation in <i>Cytoplasmic FMRP interacting protein 2</i> Regulates Cocaine Response
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76. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis
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77. Low‐Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment
    Ebele Usifo, Sarah E. A. Leigh, Ros Whittall, Nicholas Lench, Alison Taylor, Corin Yeats, Christine Anne Orengo, Andrew C.R. Martin, Jacopo Celli, Steve Eric Humphries · 2012 · Annals of Human Genetics
78. Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas
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79. CARD9-Dependent Neutrophil Recruitment Protects against Fungal Invasion of the Central Nervous System
    Rebecca A. Drummond, Amanda L. Collar, Muthulekha Swamydas, Carlos A. Rodriguez, Jean K. Lim, Laura M. Mendez, Danielle L. Fink, Amy P. Hsu, Bing Zhai, Hatice Karaüzüm et al. · 2015 · PLoS Pathogens
80. A Statistical Framework to Predict Functional Non-Coding Regions in the Human Genome Through Integrated Analysis of Annotation Data
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81. Genome and transcriptome sequencing of lung cancers reveal diverse mutational and splicing events
    Jinfeng Liu, William Lee, Zhaoshi Jiang, Zhong‐Qiang Chen, Suchit Jhunjhunwala, Peter M. Haverty, Florian Gnad, Yinghui Guan, Houston Gilbert, Jeremy Stinson et al. · 2012 · Genome Research
82. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions
    Butcher, Darci T., Cytrynbaum, Cheryl, Turinsky, Andrei L., Siu, Michelle T., Inbar-Feigenberg, Michal, Mendoza-Londono, Roberto, Chitayat, David, Walker, Susan, Machado, Jerry, Caluseriu, Oana et al. · 2017 · The American Journal of Human Genetics
83. Impacts of Neanderthal-Introgressed Sequences on the Landscape of Human Gene Expression
    McCoy, Rajiv C., Wakefield, Jon, Akey, Joshua M. · 2017 · Cell
84. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
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85. Detection of Haplotypes Associated with Prenatal Death in Dairy Cattle and Identification of Deleterious Mutations in GART, SHBG and SLC37A2
    Sébastien Fritz, Aurélien Capitan, Anis Djari, Sabrina C. Rodriguez, Anne Barbat, Aurélia Baur, Cécile Grohs, Bernard Weiss, Mekki Boussaha, Diane Esquerré et al. · 2013 · PLoS ONE
86. Choice of transcripts and software has a large effect on variant annotation
    D. McCarthy, P. Humburg, Alexander Kanapin, M. Rivas, K. Gaulton, J. Cazier, P. Donnelly, The WGS500 Consortium · 2014 · Genome Medicine
87. A framework for exhaustively mapping functional missense variants
    Weile, Jochen, Sun, Song, Cote, Atina G, Knapp, Jennifer, Verby, Marta, Mellor, Joseph C, Wu, Yingzhou, Pons, Carles, Wong, Cassandra, van Lieshout, Natascha et al. · 2017 · Molecular Systems Biology
88. Genetic Screens Reveal FEN1 and APEX2 as BRCA2 Synthetic Lethal Targets
    Kristen E. Mengwasser, Richard O. Adeyemi, Yumei Leng, Mei Yuk Choi, Connor S. Clairmont, Alan D. D’Andrea, Stephen Joseph Elledge · 2019 · Molecular Cell
89. A Decision Support Framework for Genomically Informed Investigational Cancer Therapy
    Funda Meric‐Bernstam, Amber M. Johnson, Vijaykumar R. Holla, Ann Marie Bailey, Lauren Brusco, Ken Chen, Mark J. Routbort, Keyur Pravinchandra Patel, Jia Zeng, Scott Kopetz et al. · 2015 · JNCI Journal of the National Cancer Institute
90. Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy
    Heather Marie McLaughlin, Reiko Sakaguchi, Cuiping Liu, Takao Igarashi, Davut Pehli̇van, Kristine Chu, Ram K. Iyer, Pedro Cruz, Praveen F. Cherukuri, Nancy Fisher Hansen et al. · 2010 · The American Journal of Human Genetics
91. PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions
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92. A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
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93. VarCards: an integrated genetic and clinical database for coding variants in the human genome
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    Romain A. Studer, Benoît H. Dessailly, Christine Anne Orengo · 2013 · Biochemical Journal
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