A method and server for predicting damaging missense mutations.

Cited by (1,113)

Items 201–300 of 1,113

1. Exome sequencing and the genetic basis of complex traits
   Kiezun, Adam, Garimella, Kiran, Do, Ron, Stitziel, Nathan O, Neale, Benjamin M, McLaren, Paul J, Gupta, Namrata, Sklar, Pamela, Sullivan, Patrick F, Moran, Jennifer L et al. · 2012 · Nature Genetics
2. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
   Lisette Stolk, John R. B. Perry, Daniel I. Chasman, Chunyan He, Massimo Mangino, Patrick Sulem, Maja Barbalić, Linda Broer, Enda M. Byrne, Florian D. Ernst et al. · 2012 · Nature Genetics
3. A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor
   Samantha Gadd, Vicki Huff, Amy L. Walz, Ariadne H.A.G. Ooms, Amy E. Armstrong, Daniela Se Gerhard, Malcolm Anders Smith, Jaime M. Guidry Auvil, Daoud M. Meerzaman, Qing-Rong Chen et al. · 2017 · Nature Genetics
4. Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia: association with progression and fludarabine-refractoriness
   Davide Rossi, Alessio Bruscaggin, Valeria Spina, Silvia Rasi, Hossein Khiabanian, Monica Messina, Marco Fangazio, Tiziana Vaisitti, Sara M. Monti, Sabina Chiaretti et al. · 2011 · Blood
5. Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
   Dimitri James Stavropoulos, Daniele Merico, Rebekah Kjerland Jobling, Sarah C. Bowdin, Nasim Monfared, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Giovanna Pellecchia, Ryan K. C. Yuen, Michael J. Szego et al. · 2016 · npj Genomic Medicine
6. Recurrent somatic mutation of FAT1 in multiple human cancers leads to aberrant Wnt activation
   Luc G.T. Morris, Andrew Kaufman, Yongxing Gong, Deepa Ramaswami, Logan A. Walsh, Şevin Turcan, Stephanie Eng, Kasthuri S. Kannan, Yilong Zou, Luke Peng et al. · 2013 · Nature Genetics
7. Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population
   iPSYCH-SSI-Broad Autism Group, Robinson, Elise B, St Pourcain, Beate, Anttila, Verneri, Kosmicki, Jack A, Bulik-Sullivan, Brendan, Grove, Jakob, Maller, Julian, Samocha, Kaitlin E, Sanders, Stephan J et al. · 2016 · Nature Genetics
8. The genomic landscape of nasopharyngeal carcinoma
   De‐Chen Lin, Xuan Meng, Masaharu Hazawa, Yasunobu Nagata, Ana Maria Varela, Liang Xu, Yusuke Sato, Lizhen Liu, Ling‐Wen Ding, Arjun Sharma et al. · 2014 · Nature Genetics
9. Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma
   Lu Jiang, Zhaohui Gu, Zi‐Xun Yan, Xia Zhao, Yinyin Xie, Ziguan Zhang, Chun‐Ming Pan, Yuan Hu, Changping Cai, Ying Dong et al. · 2015 · Nature Genetics
10. Saturation editing of genomic regions by multiplex homology-directed repair
    Findlay, Gregory M., Boyle, Evan A., Hause, Ronald J., Klein, Jason C., Shendure, Jay · 2014 · Nature
11. Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes
    The Meta-Analysis of Glucose and Insulin-Related Traits Consortium (MAGIC), Bonnefond, Amélie, Clément, Nathalie, Fawcett, Katherine, Yengo, Loïc, Vaillant, Emmanuel, Guillaume, Jean-Luc, Dechaume, Aurélie, Payne, Felicity, Roussel, Ronan et al. · 2012 · Nature Genetics
12. Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
    Gerasimos P. Sykiotis, Lacey Plummer, VIRGINIA A. HUGHES, Margaret Au, Sadia Durrani, Sadhana Nayak-Young, Andrew A. Dwyer, Richard Quinton, Janet Elizabeth Hall, James F. Gusella et al. · 2010 · Proceedings of the National Academy of Sciences
13. Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis
    Catherine T. Jordan, Li Hua Cao, Elisha D. O. Roberson, Shenghui Duan, Cynthia A. Helms, Rajan P. Nair, Kristina Callis Duffin, Philip E. Stuart, David E. Goldgar, Genki Hayashi et al. · 2012 · The American Journal of Human Genetics
14. Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease
    The UK-PSC Consortium, Ji, Sun-Gou, The International IBD Genetics Consortium, The International PSC Study Group, Juran, Brian D, Mucha, Sören, Folseraas, Trine, Jostins, Luke, Melum, Espen, Kumasaka, Natsuhiko et al. · 2017 · Nature Genetics
15. Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy
    Guillermo Luxán, Jesús C. Casanova, Beatriz Martı́nez-Poveda, Belén Prados, Gaetano D’Amato, Donal MacGrogan, Álvaro González-Rajal, David Dobarro, Carlos Torroja, Fernando Martínez et al. · 2013 · Nature Medicine
16. Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
    Milly S. Tedja, Robert Wojciechowski, Pirro G. Hysi, Nicholas Eriksson, Nicholas A. Furlotte, Virginie J. M. Verhoeven, Adriana I. Iglesias, Magda A. Meester‐Smoor, Stuart W. J. Tompson, Qiao Fan et al. · 2018 · Nature Genetics
17. The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity
    Grimm, Dominik G., Azencott, Chloé‐Agathe, Aicheler, Fabian, Gieraths, Udo, MacArthur, Daniel G., Samocha, Kaitlin E., Cooper, David N., Stenson, Peter D., Daly, Mark J., Smoller, Jordan W. et al. · 2015 · Human Mutation
18. Polar and brown bear genomes reveal ancient admixture and demographic footprints of past climate change
    Miller, Webb, Schuster, Stephan C., Welch, Andreanna J., Ratan, Aakrosh, Bedoya-Reina, Oscar C., Zhao, Fangqing, Kim, Hie Lim, Burhans, Richard C., Drautz, Daniela I., Wittekindt, Nicola E. et al. · 2012 · Proceedings of the National Academy of Sciences
19. Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior
    Ryan N. Doan, Byoung-Il Bae, Beatriz Cubelos, Cindy Y. Chang, Amer A. Hossain, Samira Al-Saad, Nahit Motavallı Mukaddes, Özgür Öner, Muna Al‐Saffar, Soher Balkhy et al. · 2016 · Cell
20. Structural variations in human ACE2 may influence its binding with SARS‐CoV‐2 spike protein
    Mushtaq Hussain, Nusrat Jabeen, Fozia Raza, Sanya Shabbir, Ayesha Baig, Anusha Amanullah, Basma Aziz · 2020 · Journal of Medical Virology
21. The impact of low-frequency and rare variants on lipid levels
    ENGAGE Consortium, Surakka, Ida, Horikoshi, Momoko, Mägi, Reedik, Sarin, Antti-Pekka, Mahajan, Anubha, Lagou, Vasiliki, Marullo, Letizia, Ferreira, Teresa, Miraglio, Benjamin et al. · 2015 · Nature Genetics
22. Regional missense constraint improves variant deleteriousness prediction
    Samocha, Kaitlin E., Kosmicki, Jack A., Karczewski, Konrad J., O’Donnell-Luria, Anne H., Pierce-Hoffman, Emma, MacArthur, Daniel G., Neale, Benjamin M., Daly, Mark J. · 2017
23. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study
    Manabu Funayama, Kenji Ohe, Taku Amo, Norihiko Furuya, Junji Yamaguchi, Shinji Saiki, Yuanzhe Li, Kotaro Ogaki, Maya Ando, Hiroyo Yoshino et al. · 2015 · The Lancet Neurology
24. PANTHER-PSEP: predicting disease-causing genetic variants using position-specific evolutionary preservation
    Haiming Tang, Paul D. Thomas · 2016 · Bioinformatics
25. Cancer Evolution: Mathematical Models and Computational Inference
    Niko Beerenwinkel, Roland F. Schwarz, Moritz Gerstung, Florian M. Markowetz · 2014 · Systematic Biology
26. Genome-wide association study reveals two new risk loci for bipolar disorder
    Mühleisen, Thomas W., Leber, Markus, Schulze, Thomas G., Strohmaier, Jana, Degenhardt, Franziska, Treutlein, Jens, Mattheisen, Manuel, Forstner, Andreas J., Schumacher, Johannes, Breuer, René et al. · 2014 · Nature Communications
27. Computational solutions for omics data
    Bonnie Berger, Jian Peng, Mona Singh · 2013 · Nature Reviews Genetics
28. Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration
    Johanna M. Seddon, Yi Yu, Elizabeth C Miller, Robyn C Reynolds, Perciliz L. Tan, Sivakumar Gowrisankar, Jacqueline I. Goldstein, Michael P. Triebwasser, Holly E. Anderson, Jennyfer Zerbib et al. · 2013 · Nature Genetics
29. Integrated Genomic Characterization Reveals Novel, Therapeutically Relevant Drug Targets in FGFR and EGFR Pathways in Sporadic Intrahepatic Cholangiocarcinoma
    Mitesh J. Borad, Mia D. Champion, Jan B. Egan, Winnie S. Liang, Rafaël Fonseca, Alan Haruo Bryce, Ann E. McCullough, Michael T. Barrett, Katherine S. Hunt, Maitray D. Patel et al. · 2014 · PLoS Genetics
30. Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
    Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Elizabeth K. Ruzzo, Yifan Lu, Keisha Melodi McSweeney, Bruria Ben‐Zeev, Andreea Nissenkorn, Yair Anikster, Danit Oz-Levi et al. · 2015 · Genetics in Medicine
31. Evolutionary History and Adaptation from High-Coverage Whole-Genome Sequences of Diverse African Hunter-Gatherers
    Joseph Lachance, Benjamin Vernot, Clara C. Elbers, Bart Ferwerda, Alain Froment, Jean-Marie Bodo, Godfrey Lema, Wenqing Fu, Thomas Nyambo, Timothy Richard Rebbeck et al. · 2012 · Cell
32. DICER1 Mutations in Familial Multinodular Goiter With and Without Ovarian Sertoli-Leydig Cell Tumors
    Thomas Rio Frio · 2011 · JAMA
33. De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability
    S E McCarthy, Jesse Gillis, Melissa Kramer, Jayon Lihm, Seungtai Chris Yoon, Yael Berstein, Meeta Mistry, Paul Pavlidis, R Solomon, Elena Ghiban et al. · 2014 · Molecular Psychiatry
34. Molecular Mechanisms of Disease-Causing Missense Mutations
    Shannon K. Stefl, Hafumi Nishi, Marharyta G. Petukh, Anna R. Panchenko, Emil G Alexov · 2013 · Journal of Molecular Biology
35. KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron
    Hélène Louis-Dit-Picard, Julien Barc, Daniel Trujillano, Stéphanie Miserey‐Lenkei, Nabila Bouatia‐Naji, Olena Pylypenko, Geneviève Beaurain, Amélie Bonnefond, Olivier Sand, Christophe Simian et al. · 2012 · Nature Genetics
36. Whole transcriptome sequencing reveals recurrent NOTCH1 mutations in mantle cell lymphoma
    Robert Kridel, Barbara Meissner, Sanja Rogić, Merrill Boyle, Adèle Telenius, Bruce W. Woolcock, Jay Gunawardana, Christopher R. Jenkins, Chris Cochrane, Susana Ben‐Neriah et al. · 2011 · Blood
37. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting
    Liat Samuelov, Ofer Sarig, Robert M. Harmon, Debora Rapaport, Akemi Ishida‐Yamamoto, Ofer Isakov, Jennifer Leigh Koetsier, Andrea Gat, Ilan Goldberg, Reuven Bergman et al. · 2013 · Nature Genetics
38. Making sense of cancer genomic data
    Lynda Chin, William C. Hahn, Gad A. Getz, Matthew M. Meyerson · 2011 · Genes & Development
39. Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism
    Kara E. Snider, Susan A. Becker, Linda Boyajian, Show‐Ling Shyng, Courtney MacMullen, N. Hughes, Karthik Ganapathy, Tricia R Bhatti, Charles A. Stanley, Arupa A. Ganguly · 2012 · The Journal of Clinical Endocrinology & Metabolism
40. Long Runs of Homozygosity Are Enriched for Deleterious Variation
    Zachary A. Szpiech, Jishu Xu, Trevor J. Pemberton, Weiping Peng, Sebastian K. Zöllner, Noah A. Rosenberg, Jun Z. Li · 2013 · The American Journal of Human Genetics
41. Genomic Profiling of Adult and Pediatric B-cell Acute Lymphoblastic Leukemia
    Yuan-Fang Liu, Bai-Yan Wang, Wei-Na Zhang, Jin-Yan Huang, Ben-shang Li, Ming Zhang, Lu Jiang, Jian-Feng Li, Mingjie Wang, Yu-Jun Dai et al. · 2016 · EBioMedicine
42. Bottlenecks and Selective Sweeps during Domestication Have Increased Deleterious Genetic Variation in Dogs
    Marsden, Clare D., Ortega-Del Vecchyo, Diego, O’Brien, Dennis P., Taylor, Jeremy F., Ramirez, Oscar, Vilà, Carles, Marques-Bonet, Tomas, Schnabel, Robert D., Wayne, Robert K., Lohmueller, Kirk E. · 2016 · Proceedings of the National Academy of Sciences
43. A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
    Kornelia Neveling, Ilse Feenstra, Christian Gilissen, Lies H. Hoefsloot, Erik‐Jan Kamsteeg, Arjen R. Mensenkamp, Richard J. Rodenburg, Helger G. Yntema, Liesbeth Spruijt, Sascha Vermeer et al. · 2013 · Human Mutation
44. Functional impact bias reveals cancer drivers
    Abel González-Pérez, Núria López-Bigas · 2012 · Nucleic Acids Research
45. Targeted next generation sequencing as a diagnostic tool in epileptic disorders
    Johannes R. Lemke, Erik Riesch, Tim Scheurenbrand, Max Schubach, Christian Wilhelm, Isabelle Steiner, Jörg Hansen, Carolina Courage, Sabina Gallati, Sarah Elisabeth Bürki et al. · 2012 · Epilepsia
46. Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
    Caroline Fiona Wright, Jeremy F. McRae, Stephen Clayton, Giuseppe Gallone, Stuart Aitken, Tomas W. Fitzgerald, Philip Jones, Elena Prigmore, Diana Rajan, Jenny Lord et al. · 2018 · Genetics in Medicine
47. Somatic Mutations in MLH1 and MSH2 Are a Frequent Cause of Mismatch-Repair Deficiency in Lynch Syndrome-Like Tumors
    Arjen R. Mensenkamp, Ingrid P. Vogelaar, Wendy A.G. van Zelst–Stams, Monique Goossens, Hicham Ouchene, Sandra J. B. Hendriks-Cornelissen, Michael P. Kwint, Nicoline Hoogerbrugge, Irıs D. Nagtegaal, Marjolijn J. L. Ligtenberg · 2013 · Gastroenterology
48. The mutation significance cutoff: gene-level thresholds for variant predictions
    Yuval Itan, Lei Shang, Bertrand Boisson, Michael J. Ciancanelli, Janet Markle, Rubén Martínez‐Barricarte, Eric Scott, Ishaan Shah, Peter D. Stenson, Joseph G. Gleeson et al. · 2016 · Nature Methods
49. Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
    G. David Poznik, Yali Xue, Fernando Luis Mendez, Thomas Willems, Andrea Massaia, Melissa A. Wilson, Qasim Ayub, Shane McCarthy, Apurva Narechania, Seva Kashin et al. · 2016 · Nature Genetics
50. Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population
    Honglin Song, Ed Dicks, Susan J. Ramus, Jonathan P. Tyrer, Maria P. Intermaggio, Jane D. Hayward, Christopher K. Edlund, David V. Conti, Patricia A. Harrington, Lindsay Sarah Macduff Fraser et al. · 2015 · Journal of Clinical Oncology
51. SMAD2 , SMAD3 and SMAD4 Mutations in Colorectal Cancer
    Nicholas I. Fleming, Robert N. Jorissen, Dmitri Mouradov, Michael Christie, Anuratha Sakthianandeswaren, Michelle Palmieri, Fiona Lee Day, Shan Li, Cary Tsui, Lara Rachel Lipton et al. · 2012 · Cancer Research
52. Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease
    DemGene, Steinberg, Stacy, Stefansson, Hreinn, Jonsson, Thorlakur, Johannsdottir, Hrefna, Ingason, Andres, Helgason, Hannes, Sulem, Patrick, Magnusson, Olafur Th, Gudjonsson, Sigurjon A et al. · 2015 · Nature Genetics
53. Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer’s disease families
    Cruchaga, Carlos, Chakraverty, Sumitra, Mayo, Kevin, Vallania, Francesco L. M., Mitra, Robi D., Faber, Kelley, Williamson, Jennifer, Bird, Tom, Diaz-Arrastia, Ramon, Foroud, Tatiana M. et al. · 2012 · PLoS ONE
54. On the accumulation of deleterious mutations during range expansions
    Stephan Peischl, Isabelle Dupanloup, Mark Kirkpatrick, Laurent Excoffier · 2013 · Molecular Ecology
55. Mutations in EZH2 Cause Weaver Syndrome
    William T. Gibson, Rebecca L. Hood, Shing H. Zhan, Dennis E. Bulman, Anthony P. Fejes, Richard A. Moore, Andrew J. J. Mungall, Patrice Eydoux, Riyana Babul‐Hirji, Jianghong An et al. · 2011 · The American Journal of Human Genetics
56. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1
    Immacolata Andolfo, Seth L. Alper, Lucia De Franceschi, Carla Auriemma, Roberta Russo, Luigia De Falco, Fara Vallefuoco, Maria Rosaria Esposito, David H. Vandorpe, Boris E. Shmukler et al. · 2013 · Blood
57. Mitochondrial fragmentation limits NK cell-based tumor immunosurveillance
    Zheng, Xiaohu, Qian, Yeben, Fu, Binqing, Jiao, Defeng, Jiang, Yong, Chen, Peng, Shen, Yiqing, Zhang, Huafeng, Sun, Rui, Tian, Zhigang et al. · 2019 · Nature Immunology
58. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
    Arkadiusz Piotrowski, Jing Xie, Ying F Liu, Andrzej Brunon Poplawski, Alicia Gomes, Piotr Madanecki, Chuanhua Fu, Michael R. Crowley, David K. Crossman, Linlea Armstrong et al. · 2013 · Nature Genetics
59. Impact of deleterious passenger mutations on cancer progression
    Christopher D. McFarland, Kirill S. Korolev, Gregory V. Kryukov, Shamil R. Sunyaev, Leonid A. Mirny · 2013 · Proceedings of the National Academy of Sciences
60. Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders
    Holly N. Cukier, Nicole Dueker, Susan H. Slifer, Joycelyn M. Lee, Patrice L. Whitehead, Eminisha Lalanne, Natalia Leyva, Ioanna Konidari, Ryan C Gentry, William F. Hulme et al. · 2014 · Molecular Autism
61. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
    Andrea Legati, Donatella Giovannini, Gaël Nicolas, Uriel López-Sánchez, Beatriz Quintáns, João Ricardo Mendes de Oliveira, Renee Sears, Eliana Marisa Ramos, Elizabeth Spiteri, María‐Jesús Sobrido et al. · 2015 · Nature Genetics
62. The tiger genome and comparative analysis with lion and snow leopard genomes
    Cho, Yun Sung, Hu, Li, Hou, Haolong, Lee, Hang, Xu, Jiaohui, Kwon, Soowhan, Oh, Sukhun, Kim, Hak-Min, Jho, Sungwoong, Kim, Sangsoo et al. · 2013 · Nature Communications
63. Minimal functional driver gene heterogeneity among untreated metastases
    Johannes G. Reiter, Alvin P. Makohon-Moore, Jeffrey M. Gerold, Alexander Heyde, Marc A. Attiyeh, Zachary A. Kohutek, Collin J. Tokheim, Alexia Brown, Rayne M. DeBlasio, Juliana Niyazov et al. · 2018 · Science
64. SNiPA: an interactive, genetic variant-centered annotation browser
    Matthias Arnold, Johannes Raffler, Arne Pfeufer, Karsten Suhre, Gabi Kastenmüller · 2014 · Bioinformatics
65. Prevalence of mutations in LEP, LEPR, and MC4R genes in individuals with severe obesity
    Barbara Paolini, Paolo Enrico Maltese, Irene Del Ciondolo, Daniela Tavian, Sara Missaglia, Cristina Ciuoli, Monia Zuntini, Stefano Cecchin, Matteo Bertelli, Giuseppe Pompucci · 2016 · Genetics and Molecular Research
66. Hereditary angioedema with a mutation in the plasminogen gene
    Konrad Bork, Karin Wulff, Lars Steinmüller‐Magin, Ingrid Brænne, Petra Staubach, Guenther Witzke, J. Hardt · 2017 · Allergy
67. Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease
    Satoko Miyatake, Noriko Miyake, Hajime Touho, A. Nishimura-Tadaki, Y. Kondo, I. Okada, Yoshinori Tsurusaki, Hiroshi Doi, H. Sakai, Hirotomo Saitsu et al. · 2012 · Neurology
68. Translating cancer genomics into precision medicine with artificial intelligence: applications, challenges and future perspectives
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69. BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia
    Whitney L. Wooderchak‐Donahue, Jamie McDonald, Brendan D. O’Fallon, Paul D. Upton, Wei Li, Beth L. Roman, Sarah Young, Parker Plant, Gyula T. Fülöp, Carmen Langa et al. · 2013 · The American Journal of Human Genetics
70. Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia
    Viktor Lukacs, Jayanti Mathur, Rong Mao, Pınar Bayrak‐Toydemir, Melinda Procter, Stuart M. Cahalan, Helen J. Kim, Michael Bandell, Nicola Longo, Ronald W. Day et al. · 2015 · Nature Communications
71. Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes
    He, Xin, Sanders, Stephan J., Liu, Li, De Rubeis, Silvia, Lim, Elaine T., Sutcliffe, James S., Schellenberg, Gerard D., Gibbs, Richard A., Daly, Mark J., Buxbaum, Joseph D. et al. · 2013 · PLoS Genetics
72. Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella
    Tang, Shuyan, Wang, Xiong, Li, Weiyu, Yang, Xiaoyu, Li, Zheng, Liu, Wangjie, Li, Caihua, Zhu, Zijue, Wang, Lingxiang, Wang, Jiaxiong et al. · 2017 · The American Journal of Human Genetics
73. Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk
    Oddgeir L. Holmen, He Zhang, Yanbo Fan, Daniel H. Hovelson, Ellen M. Schmidt, Wei Zhou, Yanhong Guo, Ji Zhang, Arnulf Langhammer, Maja‐Lisa Løchen et al. · 2014 · Nature Genetics
74. Human genetic variation database, a reference database of genetic variations in the Japanese population
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75. Genomic Landscape and Mutational Signatures of Deafness-Associated Genes
    Héla Azaiez, Kevin T. A. Booth, Sean S. Ephraim, Bradley Crone, E. Ann Black-Ziegelbein, Robert J. Marini, Aiden Eliot Shearer, Christina Sloan-Heggen, Diana L. Kolbe, Thomas L. Casavant et al. · 2018 · The American Journal of Human Genetics
76. Germline BRCA1 mutations increase prostate cancer risk
    The UKGPCS Collaborators, Daniel A. Leongamornlert, Nadiya Mahmud, Malgorzata Tymrakiewicz, Edward J. Saunders, Tokhir Dadaev, Elena Castro, Chee Leng Goh, Koveela Govindasami, Michelle Guy et al. · 2012 · British Journal of Cancer
77. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
    Hao Hu, Stefan A. Haas, Jamel Chelly, Hilde Van Esch, Martine Raynaud, Arjan P.M. de Brouwer, Stefanie Weinert, Guy Froyen, Suzanna G.M. Frints, Frédéric Laumonnier et al. · 2015 · Molecular Psychiatry
78. Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification
    Dapas, Matthew, Dunaif, Andrea · 2022 · Endocrine Reviews
79. Massively Parallel Functional Analysis of BRCA1 RING Domain Variants
    Lea M. Starita, David L Young, Muhtadi M. Islam, Jacob Otto Kitzman, Justin Gullingsrud, Ronald J. Hause, Douglas M. Fowler, Jeffrey D. Parvin, Jay Shendure, Stanley Fields · 2015 · Genetics
80. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
    Mikko Muona, Samuel Frank Berkovic, Leanne M. Dibbens, Karen L. Oliver, Snezana Maljevic, Marta A. Bayly, Tarja H. Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci et al. · 2014 · Nature Genetics
81. Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing
    Magdalena Ewa Tyburczy, Kira A. Dies, Jennifer Glass, Susana E. Camposano, Yvonne I. Chekaluk, Aaron R. Thorner, Ling Lin, Darcy A. Krueger, David Neal Franz, Elizabeth Anne Thiele et al. · 2015 · PLoS Genetics
82. Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes
    Karczewski, Konrad J., Solomonson, Matthew, Chao, Katherine R., Goodrich, Julia K., Tiao, Grace, Lu, Wenhan, Riley-Gillis, Bridget M., Tsai, Ellen A., Kim, Hye In, Zheng, Xiuwen et al. · 2022 · Cell Genomics
83. Integrated analysis of germline and somatic variants in ovarian cancer
    Krishna Kanchi, Kimberly J. Johnson, Charles Lu, Michael D. McLellan, Mark D.M. Leiserson, Michael C. Wendl, Qunyuan Zhang, Daniel C. Koboldt, Mingchao Xie, Cyriac Kandoth et al. · 2014 · Nature Communications
84. Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation
    Javier A. Couto, August Yue Huang, Dennis J. Konczyk, Jeremy A. Goss, Steven J. Fishman, John Butler Mulliken, Matthew L. Warman, Arin K. Greene · 2017 · The American Journal of Human Genetics
85. Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals
    Kaixiong Ye, Jian Lü, Fei Ma, Alon Keinan, Zhenglong Gu · 2014 · Proceedings of the National Academy of Sciences
86. Relapse-specific mutations in NT5C2 in childhood acute lymphoblastic leukemia
    Julia A. Meyer, Jinhua Wang, Laura E. Hogan, Jun J.J. Yang, Smita C. Dandekar, Jay P. Patel, Zuojian Tang, Paul Zumbo, Shengbo Li, Jiří Zavadil et al. · 2013 · Nature Genetics
87. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
    Krishna R. Veeramah, Laurel M. Johnstone, Tatiana M. Karafet, Daniel Wolf, Ryan S. Sprissler, John Salogiannis, Asa Barth‐Maron, Michael E. Greenberg, Till Stuhlmann, Stefanie Weinert et al. · 2013 · Epilepsia
88. The Role of Balanced Training and Testing Data Sets for Binary Classifiers in Bioinformatics
    Qiong Wei, Roland L. Dunbrack · 2013 · PLoS ONE
89. Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas
    Adam M. Fontebasso, Jeremy Schwartzentruber, Dong-Anh Khuong-Quang, Xiao-Yang Liu, Dominik Sturm, Andrey Korshunov, David Jones, Hendrik Witt, Marcel Kool, Steffen Albrecht et al. · 2013 · Acta Neuropathologica
90. Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing
    Lisa R. Susswein, Megan L. Marshall, Rachel H. Nusbaum, Kristen J. Vogel Postula, Scott M. Weissman, Lauren Yackowski, Erica M. Vaccari, Jeffrey Bissonnette, Jessica K. Booker, Mattia Cremona et al. · 2015 · Genetics in Medicine
91. The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits
    Sanghoon Moon, Young Jin Kim, Sohee Han, Mi Yeong Hwang, Dong Mun Shin, Min Young Park, Yontao Lu, Kyungheon Yoon, Hye-Mi Jang, Yun Kyoung Kim et al. · 2019 · Scientific Reports
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