A method and server for predicting damaging missense mutations.

Cited by (1,113)

Items 301–400 of 1,113

1. Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease
   Michael N. Weedon, Robert K. Hastings, Richard C. Caswell, Weijia Xie, Konrad H. Paszkiewicz, Thalia Antoniadi, Maggie Williams, Cath King, Lynn Greenhalgh, Ruth A Newbury-Ecob et al. · 2011 · The American Journal of Human Genetics
2. Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion
   Jeroen R. Huyghe, Anne Jackson, Marie P. Fogarty, Martin L. Buchkovich, Alena Stančáková, Heather M. Stringham, Xueling Sim, Lingyao Yang, Christian Fuchsberger, Henna Cederberg et al. · 2012 · Nature Genetics
3. Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy
   Richard D. Bagnall, Douglas Ewan Crompton, Slavé Petrovski, Lien Lam, Carina Cutmore, Sarah I. Garry, Lynette Grant Sadleir, Leanne M. Dibbens, Anita G. Cairns, Sara Kivity et al. · 2015 · Annals of Neurology
4. Estimating the mutation load in human genomes
   Henn, Brenna M., Botigué, Laura R., Bustamante, Carlos D., Clark, Andrew G., Gravel, Simon · 2015 · Nature Reviews Genetics
5. DNA Damage Response and Repair Gene Alterations Are Associated with Improved Survival in Patients with Platinum-Treated Advanced Urothelial Carcinoma
   Min Yuen Teo, Richard Martin Bambury, Emily Craig Zabor, Emmet Jordan, Hikmat A Al‐Ahmadie, Mariel Elena Boyd, Nancy Bouvier, Stephanie Anne Mullane, Eugene K. Cha, Nitin Roper et al. · 2017 · Clinical Cancer Research
6. Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics
   Rute Pereira, Jorge Oliveira, Mário Sousa · 2020 · Journal of Clinical Medicine
7. The deleterious mutation load is insensitive to recent population history.
   Simons, Yuval B, Turchin, Michael C, Pritchard, Jonathan K, Sella, Guy · 2014 · Nature Genetics
8. Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood
   Melina Casadio, Michael J. Ciancanelli, Yi-Hung Ou, Lazaro Lorenzo, Maja Klaudel‐Dreszler, Elodie Pauwels, Vanessa Sancho‐Shimizu, Rebeca Pérez de Diego, Avinash Abhyankar, Elisabeth Israelsson et al. · 2012 · The Journal of Experimental Medicine
9. Germline BAP1 Mutations Predispose to Renal Cell Carcinomas
   Tatiana G. Popova, Lucie Hebert, Virginie Jacquemin, Sophie Gad, Virginie Caux‐Moncoutier, Catherine Dubois d’Enghien, Bénédicte Richaudeau, Xavier Renaudin, Jason Sellers, André Nicolas et al. · 2013 · The American Journal of Human Genetics
10. Sequencing of 640,000 exomes identifies <i>GPR75</i> variants associated with protection from obesity
    Akbari, Parsa, Gilani, Ankit, Sosina, Olukayode, Kosmicki, Jack A., Khrimian, Lori, Fang, Yi-Ya, Persaud, Trikaldarshi, Garcia, Victor, Sun, Dylan, Li, Alexander et al. · 2021 · Science
11. Machine Learning in Genomic Medicine: A Review of Computational Problems and Data Sets
    Michael K. K. Leung, Andrew Delong, Babak Alipanahi, Brendan J. Frey · 2015 · Proceedings of the IEEE
12. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
    Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Saneth Samarakoon, Tomasz Gambin, Ivan Kingyue Chinn, Zeynep Coban‐Akdemir, Hans Christian Erichsen, Lisa R. Forbes, Shen Gu, Bo Yuan et al. · 2016 · Journal of Allergy and Clinical Immunology
13. The human gene damage index as a gene-level approach to prioritizing exome variants
    Yuval Itan, Lei Shang, Bertrand Boisson, Étienne Patin, Alexandre Bolze, Marcela Moncada‐Vélez, Eric Scott, Michael J. Ciancanelli, Fabien G. Lafaille, Janet Markle et al. · 2015 · Proceedings of the National Academy of Sciences
14. Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing
    Yali Xue, Yuan Chen, Qasim Ayub, Ni Huang, Edward V. Ball, Matthew E. Mort, Andrew D. Phillips, Katy Shaw, Peter D. Stenson, D.N. Cooper et al. · 2012 · The American Journal of Human Genetics
15. Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
    Hannah M. Mitchison, Miriam Schmidts, Niki T. Loges, Judy R. Freshour, Athina Dritsoula, Robert Anthony Hirst, Christopher O’Callaghan, Hannah Blau, Maha Al Dabbagh, Heike Olbrich et al. · 2012 · Nature Genetics
16. A General Framework for Detecting Disease Associations with Rare Variants in Sequencing Studies
    Dan-Yu Lin, Zheng-Zheng Tang · 2011 · The American Journal of Human Genetics
17. CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration
    Ashleigh E. Schaffer, Veerle Rc Eggens, Ahmet Okay Çağlayan, Miriam S. Reuter, Eric Scott, Nicole G. Coufal, Jennifer L. Silhavy, Yuanchao Xue, Hülya Kayserili, Katsuhito Yasuno et al. · 2014 · Cell
18. The Genetic Landscape of Diamond-Blackfan Anemia
    Ulirsch, Jacob C., Verboon, Jeffrey M., Kazerounian, Shideh, Guo, Michael H., Yuan, Daniel, Ludwig, Leif S., Handsaker, Robert E., Abdulhay, Nour J., Fiorini, Claudia, Genovese, Giulio et al. · 2018 · The American Journal of Human Genetics
19. Complex disease and phenotype mapping in the domestic dog
    Jessica J. Hayward, Marta G. Castelhano, Kyle C. Oliveira, Elizabeth E. Corey, Cheryl E. Balkman, Tara L. Baxter, Margret L. Casal, Meiying Fang, Susan J. Garrison, Sara E. Kalla et al. · 2016 · Nature Communications
20. Predicting the functional consequences of cancer-associated amino acid substitutions
    Hashem A. Shihab, Julian Gough, D.N. Cooper, Ian N.M. Day, Tom R. Gaunt · 2013 · Bioinformatics
21. The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study
    Yu‐Fang Pei, Yaozhong Liu, Xiaolin Yang, Hong Zhang, Gui-Juan Feng, Xin‐Tong Wei, Lei Zhang · 2020 · Communications Biology
22. An integrative variant analysis suite for whole exome next-generation sequencing data
    Danny Challis, Jin Yu, Uday S. Evani, Andrew R. Jackson, Sameer Paithankar, Cristian Coarfa, Aleksandar Milosavljevic, Richard A. Gibbs, Fuli Yu · 2012 · BMC Bioinformatics
23. Genetics is a major determinant of expression of the human hepatic uptake transporter OATP1B1, but not of OATP1B3 and OATP2B1
    Anne T. Nies, Mikko Niemi, Oliver Burk, Stefan Winter, Ulrich M. Zanger, Bruno Stieger, Matthias Georg Schwab, Elke Schaeffeler · 2013 · Genome Medicine
24. SNPeffect 4.0: on-line prediction of molecular and structural effects of protein-coding variants
    Greet De Baets, Joost Van Durme, Joke Reumers, Sebastian Maurer‐Stroh, Peter Vanhee, Joaquı́n Dopazo, Joost W. H. Schymkowitz, Frédéric Rousseau · 2011 · Nucleic Acids Research
25. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study
    Hendrik Rosewich, Hölger Thiele, Andreas Ohlenbusch, Ulrike Maschke, Janine Altmüller, Peter Frommolt, Birgit Zirn, Friedrich Ebinger, Hartmut Siemes, Peter Nürnberg et al. · 2012 · The Lancet Neurology
26. Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism
    Miraoui, Hichem, Dwyer, Andrew A., Sykiotis, Gerasimos P., Plummer, Lacey, Chung, Wilson, Feng, Bihua, Beenken, Andrew, Clarke, Jeff, Pers, Tune H., Dworzynski, Piotr et al. · 2013 · The American Journal of Human Genetics
27. The common marmoset genome provides insight into primate biology and evolution
    Kim C. Worley, Jeffrey Rogers, Donna Marie Muzny, George M. Weinstock, Mimi N. Chandrabose, Andrew Cree, Marvin Dao, Huyen H Dinh, R. Gerald Fowler, Ramatu Ayiesha Gabisi et al. · 2014 · Nature Genetics
28. The landscape of sex-differential transcriptome and its consequent selection in human adults
    Moran Gershoni, Shmuel Pietrokovski · 2017 · BMC Biology
29. Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale
    Xihao Li, Zilin Li, Hufeng Zhou, Sheila M. Gaynor, Yaowu Liu, Han Chen, Ryan Sun, Rounak Dey, Donna K. Arnett, Stella W. Aslibekyan et al. · 2020 · Nature Genetics
30. Mutations in<i>SYNGAP1</i>Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency
    Berryer, Martin H., Hamdan, Fadi F., Klitten, Laura L., Møller, Rikke S., Carmant, Lionel, Schwartzentruber, Jeremy, Patry, Lysanne, Dobrzeniecka, Sylvia, Rochefort, Daniel, Neugnot-Cerioli, Mathilde et al. · 2013 · Human Mutation
31. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm
    Alexander J Doyle, Jefferson James Doyle, Seneca L. Bessling, Samantha Maragh, Mark Evan Lindsay, Dorien Schepers, Elisabeth Gillis, Geert R. Mortier, Tessa Homfray, Kimberly Sauls et al. · 2012 · Nature Genetics
32. VarElect: the phenotype-based variation prioritizer of the GeneCards Suite
    Gil Stelzer, Inbar Plaschkes, Danit Oz-Levi, Anna Alkelai, Tsviya Olender, Shahar Zimmerman, Michal Twik, Frida Belinky, Simon Fishilevich, Ron Nudel et al. · 2016 · BMC Genomics
33. POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance
    Fernando Bellido, Marta Pineda, Gemma Aiza, Rafael Valdés‐Mas, Matilde Navarro, Diana A. Puente, Tirso Pons, Sara González, Silvia L. Iglesias, Esther Darder et al. · 2015 · Genetics in Medicine
34. Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways
    Hudson H. Freeze, Jessica X. Chong, Michael J. Bamshad, Bobby G. Ng · 2014 · The American Journal of Human Genetics
35. Coevolutionary Landscape Inference and the Context-Dependence of Mutations in Beta-Lactamase TEM-1
    Matteo Figliuzzi, Hervé Jacquier, Alexander H. Schug, Olivier Tenaillon, Martin Weigt · 2015 · Molecular Biology and Evolution
36. PharmGKB summary
    Stuart Alexander Scott, Katrin Sangkuhl, Alan R. Shuldiner, Jean‐Sébastien Hulot, Caroline F. Thorn, Russ Biagio Altman, Teri E. Klein · 2011 · Pharmacogenetics and Genomics
37. Landscape of TET2 mutations in acute myeloid leukemia
    Sandra Weißmann, Tamara Alpermann, Vera Grossmann, Andreas Kowarsch, Niroshan Nadarajah, Christiane Eder, Frank Dicker, Annette Fasan, Claudia Haferlach, Torsten Haferlach et al. · 2011 · Leukemia
38. The impact of rare variation on gene expression across tissues
    Xin Li, Yungil Kim, Emily K. Tsang, Joe R. Davis, Farhan N. Damani, Colby Chiang, Gaelen T. Hess, Zachary Zappala, Benjamin J. Strober, Alexandra J. Scott et al. · 2017 · Nature
39. Spatial intratumoral heterogeneity and temporal clonal evolution in esophageal squamous cell carcinoma
    Jia‐Jie Hao, De‐Chen Lin, Huy Q. Dinh, Anand Mayakonda, Yan‐Yi Jiang, Chang Chen, Ye Jiang, Chenchen Lü, Zhi‐Zhou Shi, Xin Xu et al. · 2016 · Nature Genetics
40. Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition
    Laura B. Ramsey, Gitte Hoffmann Bruun, Wenjian Yang, Lisa R. Treviño, Selina Vattathil, Paul A. Scheet, Cheng Cheng, Gary L. Rosner, Kathleen M. Giacomini, Yiping Fan et al. · 2011 · Genome Research
41. A specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors
    Iacopo Petrini, Paul S. Meltzer, In‐Kyu Kim, Marco Lucchi, Kang-Seo Park, Gabriella Fontanini, James Gao, Paolo Andrea Zucali, Fiorella Calabrese, Adolfo Gino Favaretto et al. · 2014 · Nature Genetics
42. Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity
    Tomokazu Souma, Stuart W. J. Tompson, Benjamin R. Thomson, Owen M. Siggs, Krishnakumar Kizhatil, Shinji Yamaguchi, Liang Feng, Vachiranee Limviphuvadh, Kristina N. Whisenhunt, Sebastian Maurer‐Stroh et al. · 2016 · Journal of Clinical Investigation
43. SPEACH_AF: Sampling protein ensembles and conformational heterogeneity with Alphafold2
    Stein, Richard A., Mchaourab, Hassane S. · 2022 · PLOS Computational Biology
44. Exome Sequencing Can Improve Diagnosis and Alter Patient Management
    Tracy J. Dixon-Salazar, J. Silhavy, Nitin Udpa, J. Schroth, Stephanie L. Bielas, A. Schaffer, Jesus Olvera, V. Bafna, M. Zaki, G. Abdel-Salam et al. · 2012 · Science Translational Medicine
45. Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies
    Jean‐Laurent Casanova, Mary Ellen Conley, Stephen J. Seligman, Laurent Abel, Luigi Daniele Notarangelo · 2014 · The Journal of Experimental Medicine
46. Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
    Tomasz Żemojtel, Sebastian Köhler, Luisa Mackenroth, Marten Jäger, Jochen Hecht, Peter Michael Krawitz, Luitgard Margarete Graul-Neumann, Sandra C. Doelken, Nadja Ehmke, Malte Spielmann et al. · 2014 · Science Translational Medicine
47. Targeted sequencing of refractory myeloma reveals a high incidence of mutations in CRBN and Ras pathway genes
    Kortüm, K. Martin, Mai, Elias K., Hanafiah, Nur H., Shi, Chang-Xi, Zhu, Yuan-Xiao, Bruins, Laura, Barrio, Santiago, Jedlowski, Patrick, Merz, Maximilian, Xu, Jing et al. · 2016 · Blood
48. Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis
    Christine Gast, Reuben J. Pengelly, Matthew Lyon, David J. Bunyan, Eleanor G. Seaby, Nikki J. Graham, Gopalakrishnan Venkat‐Raman, Sarah Ennis · 2015 · Nephrology Dialysis Transplantation
49. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans
    Anaïs Grall, Éric Guaguère, Sandrine Planchais, Susanne Grond, Emmanuelle Bourrat, Ingrid Haußer, Christophe Hitte, Matthieu Le Gallo, Céline Derbois, Gwang-Jin Kim et al. · 2012 · Nature Genetics
50. Sequencing studies in human genetics: design and interpretation
    David B. Goldstein, Andrew S. Allen, Jon Keebler, Elliott H. Margulies, Steven Petrou, Slavé Petrovski, Shamil R. Sunyaev · 2013 · Nature Reviews Genetics
51. PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update
    V. López-Ferrando, A. Gazzo, X. de la Cruz, M. Orozco, J. Gelpí · 2017 · Nucleic Acids Res.
52. A novel hierarchical prognostic model of AML solely based on molecular mutations
    Vera Grossmann, Susanne Schnittger, Alexander Kohlmann, Christiane Eder, Andreas Roller, Frank Dicker, Christoph Schmid, Clemens‐Martin Wendtner, Peter Staib, Hubert L. Serve et al. · 2012 · Blood
53. Capturing the mutational landscape of the beta-lactamase TEM-1
    Hervé Jacquier, André Birgy, Hervé Le Nagard, Yves Méchulam, Emmanuelle Schmitt, Jérémy Glodt, Béatrice Berçot, Emmanuelle Petit, Julie Poulain, Guilène Barnaud et al. · 2013 · Proceedings of the National Academy of Sciences
54. A High Degree of LINE-1 Hypomethylation Is a Unique Feature of Early-Onset Colorectal Cancer
    Marina Antelo, Francesc Balaguer, Jinru Shia, Yan Shen, Keun Hur, Leticia Moreira, Míriam Cuatrecasas, Luís Bujanda, Maria Dolores Giraldez, Masanobu Takahashi et al. · 2012 · PLoS ONE
55. Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells
    Brock A. Peters, Bahram Ghaffarzadeh Kermani, Andrew B. Sparks, Oleg Alferov, Peter Hong, Andrei Alexeev, Yuan Jiang, Fredrik Dahl, Y. Tom Tang, Juergen Haas et al. · 2012 · Nature
56. Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine
    Paul Bastard, Eleftherios Michailidis, Hans-Heinrich Hoffmann, Marwa Chbihi, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Yoann Seeleuthner, Adrian Gervais, Marie Materna et al. · 2021 · The Journal of Experimental Medicine
57. Mismatch Repair Genes Mlh1 and Mlh3 Modify CAG Instability in Huntington's Disease Mice: Genome-Wide and Candidate Approaches
    Pinto, Ricardo Mouro, Dragileva, Ella, Kirby, Andrew, Lloret, Alejandro, Lopez, Edith, St. Claire, Jason, Panigrahi, Gagan B., Hou, Caixia, Holloway, Kim, Gillis, Tammy et al. · 2013 · PLoS Genetics
58. Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
    Hayflick, Susan J., Kruer, Michael C., Gregory, Allison, Haack, Tobias B., Kurian, Manju A., Houlden, Henry H., Anderson, James, Boddaert, Nathalie, Sanford, Lynn, Harik, Sami I. et al. · 2013 · Brain
59. Rare variant association studies: considerations, challenges and opportunities
    Paul Livermore Auer, Guillaume Lettre · 2015 · Genome Medicine
60. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder
    Talkowski, Michael E., Mullegama, Sureni V., Rosenfeld, Jill A., van Bon, Bregje W.M., Shen, Yiping, Repnikova, Elena A., Gastier-Foster, Julie, Thrush, Devon Lamb, Kathiresan, Sekar, Ruderfer, Douglas M. et al. · 2011 · The American Journal of Human Genetics
61. GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome
    Amy P. Hsu, Kirby D. Johnson, Emilia Liana Falcone, Rajendran Sanalkumar, Lauren A. Sanchez, Dennis D. Hickstein, Jennifer Cuellar‐Rodríguez, Jacob E. Lemieux, Christa S. Zerbe, Emery H. Bresnick et al. · 2013 · Blood
62. Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set
    J. Khadake, Birgit Meldal, Simona Panni, David Thorneycroft, K. Van Roey, Sara Abbani, Łukasz Salwiński, Matteo A. Pellegrini, Marta Iannuccelli, Luana Licata et al. · 2018 · Nature Communications
63. Patterns of coding variation in the complete exomes of three Neandertals
    Castellano, Sergi, Parra, Genís, Sánchez-Quinto, Federico A., Racimo, Fernando, Kuhlwilm, Martin, Kircher, Martin, Sawyer, Susanna, Fu, Qiaomei, Heinze, Anja, Nickel, Birgit et al. · 2014 · Proceedings of the National Academy of Sciences
64. Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
    Saima Riazuddin, Inna A. Belyantseva, Arnaud P. J. Giese, Kwanghyuk Danny Lee, Artur A. Indzhykulian, Sri Pratima Nandamuri, Rizwan Yousaf, Ghanshyam P. Sinha, Sue Lee, David Terrell et al. · 2012 · Nature Genetics
65. SuSPect: Enhanced Prediction of Single Amino Acid Variant (SAV) Phenotype Using Network Features
    Christopher M. Yates, Ioannis Filippis, Lawrence A. Kelley, Michael J.E. Sternberg · 2014 · Journal of Molecular Biology
66. A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases
    Miaoxin Li, Hongsheng Gui, Johnny S. H. Kwan, Suying Bao, Pak Chung Sham · 2012 · Nucleic Acids Research
67. Mutations in the mammalian target of rapamycin pathway regulators <i>NPRL2</i> and <i>NPRL3</i> cause focal epilepsy
    Ricos, Michael G., Hodgson, Bree L., Pippucci, Tommaso, Saidin, Akzam, Ong, Yeh Sze, Heron, Sarah E., Licchetta, Laura, Bisulli, Francesca, Bayly, Marta A., Hughes, James et al. · 2016 · Annals of Neurology
68. Exploring the genetic basis of chronic periodontitis: a genome-wide association study
    Kimon Divaris, K. L. Monda, Kari E. North, A. F. Olshan, Lindsay M. Reynolds, W.-C. Hsueh, E. M. Lange, KEVIN L. MOSS, S. P. Barros, Robert J. Weyant et al. · 2013 · Human Molecular Genetics
69. IL-10R Polymorphisms Are Associated with Very-early-onset Ulcerative Colitis
    Christopher J. Moran, Thomas D. Walters, Conghui Guo, Subra Kugathasan, Christoph Klein, Dan Turner, Victorien M. Wolters, Robert Bandsma, Marialena Mouzaki, Mary Zachos et al. · 2012 · Inflammatory Bowel Diseases
70. Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human
    Coutton, Charles, Vargas, Alexandra S., Amiri-Yekta, Amir, Kherraf, Zine-Eddine, Ben Mustapha, Selima Fourati, Le Tanno, Pauline, Wambergue-Legrand, Clémentine, Karaouzène, Thomas, Martinez, Guillaume, Crouzy, Serge et al. · 2018 · Nature Communications
71. Unraveling tumor–immune heterogeneity in advanced ovarian cancer uncovers immunogenic effect of chemotherapy
    Alejandro Jiménez-Sánchez, Paulina Cybulska, Katherine LaVigne Mager, Simon Koplev, Oliver M. Cast, Dominique‐Laurent Couturier, Danish Memon, Pier Selenica, Ines Nikolovski, Yousef Mazaheri et al. · 2020 · Nature Genetics
72. Genome- and transcriptome-wide association studies provide insights into the genetic basis of natural variation of seed oil content in Brassica napus
    Shan Tang, Hu Zhao, Shaoping Lu, Liangqian Yu, Guofang Zhang, Yuting Zhang, Qingyong Yang, Yongming Zhou, Xuemin Wang, Wei Ma et al. · 2020 · Molecular Plant
73. Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
    Luís Rocha Lopes, Anna Zekavati, Petros Syrris, Michael J.F. Hubank, Claudia Giambartolomei, Chrysoula Dalageorgou, Sharon A. Jenkins, William John McKenna, Vincent Plagnol, Perry M Elliot · 2013 · Journal of Medical Genetics
74. Somatic Mutation Profiles of MSI and MSS Colorectal Cancer Identified by Whole Exome Next Generation Sequencing and Bioinformatics Analysis
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75. An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis
    Slavé Petrovski, Jamie L. Todd, Michael T. Durheim, Quanli Wang, Jason W. Chien, Fran L. Kelly, Courtney W. Frankel, Caroline M. Mebane, Zhong Ren, Joshua Bridgers et al. · 2017 · American Journal of Respiratory and Critical Care Medicine
76. Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing
    Joke Reumers, Peter De Rijk, Hui Zhao, Anthony M. L. Liekens, Dominiek Smeets, John Cleary, Peter Van Loo, Maarten J. A. Van Den Bossche, Kirsten Catthoor, Bernard Sabbe et al. · 2011 · Nature Biotechnology
77. Role of Cytochrome P450 2C8 in Drug Metabolism and Interactions
    Janne T. Backman, Anne M. Filppula, Mikko Niemi, Pertti J. Neuvonen · 2016 · Pharmacological Reviews
78. LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy
    Kevin M. Flanigan, Ermelinda Ceco, Kay‐Marie Lamar, Yuuki Kaminoh, Diane Marie Dunn, Jerry R. Mendell, Wendy M. King, Alan Pestronk, Julaine M Florence, Katherine D. Mathews et al. · 2012 · Annals of Neurology
79. The Effects of Non-Synonymous Single Nucleotide Polymorphisms (nsSNPs) on Protein–Protein Interactions
    Christopher M. Yates, Michael J.E. Sternberg · 2013 · Journal of Molecular Biology
80. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita
    Bari J. Ballew, Meredith Yeager, Kevin B. Jacobs, Neelam Giri, Joseph F. Boland, Laurie A. Burdett, Blanche P. Alter, Sharon A. Savage · 2013 · Human Genetics
81. Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8
    Kym M. Boycott, Chandree L. Beaulieu, Kristin D. Kernohan, Ola Hosny Gebril, Aizeddin A. Mhanni, Albert E. Chudley, David Redl, Wen Qin, Sarah Hampson, Sébastien Küry et al. · 2015 · The American Journal of Human Genetics
82. Pharmacogenetics: Implications of race and ethnicity on defining genetic profiles for personalized medicine
    Ortega, Victor E., Meyers, Deborah A. · 2014 · Journal of Allergy and Clinical Immunology
83. Simultaneous Identification of Multiple Driver Pathways in Cancer
    Mark D.M. Leiserson, Dima Blokh, Roded Sharan, Benjamin J. Raphael · 2013 · PLoS Computational Biology
84. Genomic and Transcriptomic Characterization of Natural Killer T Cell Lymphoma
    Jie Xiong, Bowen Cui, Nan Wang, Yu-Ting Dai, Hao Zhang, Chao‐Fu Wang, Huijuan Zhong, Shu Cheng, Binshen Ouyang, Yu Hu et al. · 2020 · Cancer Cell
85. Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia
    Brent L. Fogel, Hane Lee, Joshua L. Deignan, Samuel P. Strom, Sibel Kantarci, Xizhe Wang, Fabiola Quintero‐Rivera, Eric J. N. Vilain, Wayne W. Grody, Susan Perlman et al. · 2014 · JAMA Neurology
86. Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
    Ghosh, Rajarshi, Oak, Ninad, Plon, Sharon E. · 2017 · Genome biology
87. Whole exome sequencing of suspected mitochondrial patients in clinical practice
    Wortmann, Saskia B., Koolen, David A., Smeitink, Jan A., den van Heuvel, Lambert, Rodenburg, Richard J. · 2015 · Journal of Inherited Metabolic Disease
88. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
    David Coelho, Jaeseung C. Kim, Isabelle Racine Miousse, Stephen Fung, Marcel du Moulin, Insa Buers, Terttu Suormala, Patricie Burda, Michele Frapolli, Martin Stucki et al. · 2012 · Nature Genetics
89. Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature
    Rami Abou Jamra, Orianne Philippe, Annick Raas‐Rothschild, Sebastian H. Eck, Elisabeth Graf, Rebecca Buchert, Guntram Borck, Arif Bülent Ekici, Felix F. Brockschmidt, Markus Maria Nöthen et al. · 2011 · The American Journal of Human Genetics
90. DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation
    Eugene Bragin, Eleni Anthippi Chatzimichali, Caroline Fiona Wright, Matthew E. Hurles, Helen V. Firth, A. Paul Bevan, Ganesh Jawahar Swaminathan · 2013 · Nucleic Acids Research
91. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome
    Jillian K. Warejko, Weizhen Tan, Ankana Daga, David Schapiro, Jennifer A. Lawson, Shirlee Shril, Svjetlana Lovric, Shazia Ashraf, Jia Rao, Tobias F. Hermle et al. · 2017 · Clinical Journal of the American Society of Nephrology
92. IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes
    Yukihide Momozawa, Julia Dmitrieva, Emilie Théâtre, Valérie Deffontaine, Souad Rahmouni, Benoît Charloteaux, François Crins, Elisa Docampo, Mahmoud Elansary, Ann-Stephan Gori et al. · 2018 · Nature Communications
93. Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
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