A method and server for predicting damaging missense mutations.

Cited by (1,113)

Items 601–700 of 1,113

1. Identification of Variant-Specific Functions of PIK3CA by Rapid Phenotyping of Rare Mutations
   Turgut Dogruluk, Yiu Huen Tsang, Maribel Espitia, Fengju Chen, Tenghui Chen, Zechen Chong, Vivek Appadurai, Armel Dogruluk, Karina Agda Eterovic, Penelope E. Bonnen et al. · 2015 · Cancer Research
2. Systematic Functional Interrogation of Rare Cancer Variants Identifies Oncogenic Alleles
   Eejung Kim, Nina Ilić, Yashaswi Shrestha, Lihua Zou, Atanas Kamburov, Cong Zhu, Xiaoping Yang, Rakela Lubonja, Nancy H. Tran, Cindy Nguyen et al. · 2016 · Cancer Discovery
3. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes
   Sushree Sangita Sahoo, Victor B. Pastor, Charnise Goodings, Rebecca K. Voss, Emilia J. Kozyra, Enikoe Amina Szvetnik, Peter Noellke, Michael Norbert Dworzak, Jan Starý, Franco Locatelli et al. · 2021 · Nature Medicine
4. Targeted Gene Correction Minimally Impacts Whole-Genome Mutational Load in Human-Disease-Specific Induced Pluripotent Stem Cell Clones
   Suzuki, Keiichiro, Yu, Chang, Qu, Jing, Li, Mo, Yao, Xiaotian, Yuan, Tingting, Goebl, April, Tang, Senwei, Ren, Ruotong, Aizawa, Emi et al. · 2014 · Cell Stem Cell
5. FLAGS, frequently mutated genes in public exomes
   Casper Shyr, Maja Tarailo‐Graovac, Michael Gottlieb, Jessica J. Y. Lee, Clara van Karnebeek, Wyeth W. Wasserman · 2014 · BMC Medical Genomics
6. Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis
   Debayan Dasgupta, Mark J. Wee, Monica Reyes, Yuwen Li, Peter J. Simm, Amita Sharma, Karl P. Schlingmann, Marco Janner, Andrew Biggin, Joanna Lazier et al. · 2014 · Journal of the American Society of Nephrology
7. Protein-protein interaction sites are hot spots for disease-associated nonsynonymous SNPs
   Alessia David, Rozaimi Razali, Mark N. Wass, Michael J.E. Sternberg · 2011 · Human Mutation
8. Inherited CARD9 Deficiency: Invasive Disease Caused by Ascomycete Fungi in Previously Healthy Children and Adults
   Emilie Corvilain, Jean‐Laurent Casanova, Anne Puel · 2018 · Journal of Clinical Immunology
9. Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations
   Benjamin Livesey, Joseph A. Marsh · 2020 · Molecular Systems Biology
10. Genome-wide signals of positive selection in human evolution
    David Enard, Philipp W. Messer, Dmitri A. Petrov · 2014 · Genome Research
11. Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways
    Candice K. Silversides, Anath Christopher Lionel, Gregory Costain, Daniele Merico, Ohsuke Migita, Ben Liu, Tracy Yuen, Jessica Rickaby, Bhooma Thiruvahindrapuram, Christian R. Marshall et al. · 2012 · PLoS Genetics
12. Risk for myasthenia gravis maps to a 151 Pro→Ala change in TNIP1 and to human leukocyte antigen‐B*08
    Peter K. Gregersen, Roman Kosoy, Annette T. Lee, Janine A. Lamb, Jon D. Sussman, David McKee, Kim R. Simpfendorfer, Ritva Pirskanen, Fredrik Piehl, Qiang Pan‐Hammarström et al. · 2012 · Annals of Neurology
13. A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51
    Najim Ameziane, Patrick May, Anneke Haitjema, Henri J. van de Vrugt, Sari E. van Rossum-Fikkert, Dejan Ristić, Gareth J. Williams, Jesper A. Balk, Davy Rockx, Hong Li et al. · 2015 · Nature Communications
14. A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome
    Rasika A. Mathias, Margaret A. Taub, Christopher R. Gignoux, Wenqing Fu, Shaila A. Musharoff, Timothy D. O’Connor, Candelaria Vergara, Dara G. Torgerson, Maria del Mar Pino-Yanes, Suyash Shringarpure et al. · 2016 · Nature Communications
15. New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)
    Marielle E van Gijn, Isabella Ceccherini, Yael Shinar, Ellen C. Carbo, Mariska K. Slofstra, Juan I. Aróstegui, Guillaume Sarrabay, Dorota M. Rowczenio, Ebun Omoyımnı, Banu Balcı‐Peynircioğlu et al. · 2018 · Journal of Medical Genetics
16. A brain somatic RHEB doublet mutation causes focal cortical dysplasia type II
    Shanshan Zhao, Zhenghui Li, Muxian Zhang, Lingliang Zhang, Honghua Zheng, Jinhuan Ning, Yanyan Wang, Fengpeng Wang, Xiaobin Zhang, Hexia Gan et al. · 2019 · Experimental & Molecular Medicine
17. Improved pathogenicity prediction for rare human missense variants
    Yingzhou Wu, Hanqing Liu, Roujia Li, Song Sun, Jochen Weile, Frederick P. Roth · 2021 · The American Journal of Human Genetics
18. Polygenic architecture of rare coding variation across 394,783 exomes
    Daniel J. Weiner, Ajay Nadig, Karthik A. Jagadeesh, Kushal K. Dey, Benjamin M. Neale, Elise Robinson, Konrad J. Karczewski, Luke Jen O’Connor · 2023 · Nature
19. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield
    Arunkanth Ankala, Cristina da Silva, Francesca Gualandi, Alessandra Ferlini, Lora Jh Bean, Christin D. Collins, Alice K. Tanner, Madhuri Hegde · 2014 · Annals of Neurology
20. The diversity of mutations and clinical outcomes for ELANE-associated neutropenia
    Vahagn Makaryan, Cornelia Zeidler, Audrey Anna Bolyard, Julia Skokowa, Elin Rodger, Merideth L. Kelley, Laurence A. Boxer, Mary Ann Bonilla, Peter E. Newburger, Akiko Shimamura et al. · 2014 · Current Opinion in Hematology
21. Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy
    Elizabeth K. Ruzzo, José‐Mario Capo‐Chichi, Bruria Ben‐Zeev, David A. Chitayat, Hanqian Mao, Andrea L. Pappas, Yuki Hitomi, Yifan Lu, Xiaodi Yao, Fadi F. Hamdan et al. · 2013 · Neuron
22. The Accumulation of Deleterious Mutations as a Consequence of Domestication and Improvement in Sunflowers and Other Compositae Crops
    Sébastien Renaut, Loren H. Rieseberg · 2015 · Molecular Biology and Evolution
23. BRAF Mutant Gastrointestinal Stromal Tumor: First report of regression with BRAF inhibitor dabrafenib (GSK2118436) and whole exomic sequencing for analysis of acquired resistance
    Gerald Steven Falchook, Jonathan C. Trent, Michael Charles Heinrich, Carol Beadling, J. Patterson, Christel C. Bastida, S Blackman, Razelle Kurzrock · 2013 · Oncotarget
24. Acute Intermittent Porphyria: Predicted Pathogenicity ofHMBSVariants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease
    Brenden Chen, Constanza Solis‐Villa, Jörg Hakenberg, Wanqiong Qiao, Ramakrishnan Rajaram Srinivasan, Makiko Yasuda, Manisha Balwani, Dana O. Doheny, Inga Peter, Rong Chen et al. · 2016 · Human Mutation
25. Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella
    Ying Shen, Feng Zhang, Fuping Li, Xiaohui Jiang, Yihong Yang, Xiaoliang Li, Weiyu Li, Xiang Wang, Juan Cheng, Mohan Liu et al. · 2019 · Nature Communications
26. Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls
    Bellenguez, Céline, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Le Guennec, Kilan, Nicolas, Gaël, Chauhan, Ganesh, Wallon, David, Rousseau, Stéphane, Richard, Anne Claire et al. · 2017 · Neurobiology of Aging
27. Macronodular Adrenal Hyperplasia due to Mutations in an Armadillo Repeat Containing 5 (<i>ARMC5</i>) Gene: A Clinical and Genetic Investigation
    Faucz, Fabio R., Zilbermint, Mihail, Lodish, Maya B., Szarek, Eva, Trivellin, Giampaolo, Sinaii, Ninet, Berthon, Annabel, Libé, Rossella, Assié, Guillaume, Espiard, Stéphanie et al. · 2014 · The Journal of Clinical Endocrinology &amp; Metabolism
28. MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing
    Matthew E. Mort, Timothy Sterne-Weiler, Biao Li, Edward V. Ball, D.N. Cooper, Predrag Radivojac A, Jeremy R. Sanford, Sean David Mooney · 2014 · Genome biology
29. Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility
    Masaki Takeuchi, Nobuhisa Mizuki, Akira Meguro, Michael J. Ombrello, Yohei Kirino, Colleen Satorius, Julie Le, Mary Blake, Burak Erer, Tatsukata Kawagoe et al. · 2017 · Nature Genetics
30. Concurrent TP53 Mutations Facilitate Resistance Evolution in EGFR-Mutant Lung Adenocarcinoma
    Natalie I. Vokes, Emily S. Chambers, Tom T. Nguyen, Alexis Coolidge, Christine Lydon, Xiuning Le, Lynette Marie Sholl, John Victor Heymach, Mizuki Nishino, Eliezer M. Van Allen et al. · 2022 · Journal of Thoracic Oncology
31. Clinical and biochemical features of different molecular etiologies of familial chylomicronemia
    Hegele, Robert A., Berberich, Amanda J., Ban, Matthew R., Wang, Jian, Digenio, Andres, Alexander, Veronica J., D'Erasmo, Laura, Arca, Marcello, Jones, Alan, Bruckert, Eric et al. · 2018 · Journal of Clinical Lipidology
32. Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors
    Georgia Chenevix‐Trench, Georgina L. Ryland, Sally M. Hunter, Maria Doyle, Franco Caramia, Jason Li, Simone M. Rowley, Michael Christie, Prue E. Allan, Andrew N. Stephens et al. · 2015 · Genome Medicine
33. The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism
    Arnaud Besse, Ping Chun Wu, Francesco Bruni, Taraka Donti, Brett H. Graham, William James Craigen, Robert McFarland, Paolo M. Moretti, Seema R. Lalani, Kenneth L. Scott et al. · 2015 · Cell Metabolism
34. Analyzing Effects of Naturally Occurring Missense Mutations
    Zhe Zhang, Maria A. Miteva, Lin Wang, Emil G Alexov · 2012 · Computational and Mathematical Methods in Medicine
35. Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia
    Taneli Raivio, Magdalena Avbelj Stefanija, Mark James McCabe, Christopher Joseph Romero, Andrew A. Dwyer, Johanna Tommiska, Gerasimos P. Sykiotis, Louise Cheryl Gregory, Daniel Diaczok, Vaitsa Tziaferi et al. · 2012 · The Journal of Clinical Endocrinology & Metabolism
36. Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups
    Simon Rothwell, Robert G Cooper, Ingrid E. Lundberg, Frederick W. Miller, Peter K. Gregersen, John Bowes, Jiří Vencovský, Katalin Dankó, Vidya Sadanand Limaye, Albert Selva-O’Callaghan et al. · 2016 · Annals of the Rheumatic Diseases
37. Loss-of-function mutations in theATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)
    Alejandro Estrada‐Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet Maria De Rycke, Dae-In Chang et al. · 2016 · Brain
38. Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6
    Todor Arsov, Katherine R. Smith, John A. Damiano, Silvana Franceschetti, Laura Canafoglia, Catherine J. Bromhead, Eva Andermann, Danya F. Vears, Patrick Cossette, Sulekha Rajagopalan et al. · 2011 · The American Journal of Human Genetics
39. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias
    Rui Chen, Silvia Clara Giliani, Gaetana Lanzi, George I. Mias, Silvia Lonardi, Kerry Dobbs, John P. Manis, Hogune Im, Jennifer E. G. Gallagher, Douglas H. Phanstiel et al. · 2013 · Journal of Allergy and Clinical Immunology
40. TLR3 deficiency in herpes simplex encephalitis
    Hye Kyung Lim, Mikko R. J. Seppänen, Timo Hautala, Michael J. Ciancanelli, Yuval Itan, Fabien G. Lafaille, William Dell, Lazaro Lorenzo, Minji Byun, Elodie Pauwels et al. · 2014 · Neurology
41. Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa
    Stephan L. Zuchner, Julia E. Dallman, Rong Wen, Gary W. Beecham, Adam Christian Naj, Amjad Farooq, Martin A. Kohli, Patrice L. Whitehead, William F. Hulme, Ioanna Konidari et al. · 2011 · The American Journal of Human Genetics
42. Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome
    Fuxi Zhu, Fengsong Wang, Xiaoyu Yang, Jingjing Zhang, Huan Wu, Zhou Zhang, Zhiguo Zhang, Xiaojin He, Ping Zhou, Zhaolian Wei et al. · 2016 · The American Journal of Human Genetics
43. Neural networks to learn protein sequence–function relationships from deep mutational scanning data
    Sam Gelman, Sarah A. Fahlberg, Pete Heinzelman, Philip A. Romero, Anthony Gitter · 2021 · Proceedings of the National Academy of Sciences
44. YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction
    Gabriele, Michele, Vulto-van Silfhout, Anneke T., Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita et al. · 2017 · The American Journal of Human Genetics
45. Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations
    Gazal, Steven, Loh, Po-Ru, Finucane, Hilary K., Ganna, Andrea, Schoech, Armin, Sunyaev, Shamil, Price, Alkes L. · 2018 · Nature Genetics
46. Network-Based Multiple Sclerosis Pathway Analysis with GWAS Data from 15,000 Cases and 30,000 Controls
    Sergio E. Baranzini, Pouya Khankhanian, Nikolaos A. Patsopoulos, Michael Li, Jim M. Stankovich, Chris J. Cotsapas, Helle Bach Søndergaard, Maria Ban, Nadia Barizzone, Laura Bergamaschi et al. · 2013 · The American Journal of Human Genetics
47. Meta-analysis identifies four new loci associated with testicular germ cell tumor
    Charles C. Chung, Peter A. Kanetsky, Zhaoming Wang, Michelle A.T. Hildebrandt, Roelof Koster, Rolf Inge Skotheim, Christian Peter Kratz, Clare Turnbull, Victoria Kristence Cortessis, Anne Cathrine Bakken et al. · 2013 · Nature Genetics
48. De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy
    Jae-Ran Lee, Myriam Srour, Doyoun Kim, Fadi F. Hamdan, So-Hee Lim, Catherine Brunel‐Guitton, Jean‐Claude Décarie, Elsa Rossignol, Grant A. Mitchell, Allison Schreiber et al. · 2014 · Human Mutation
49. Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length
    Katja‐Martina Eckl, Rotem Tidhar, Holger Thiele, Vinzenz Oji, Ingrid Haußer, Susanne Brodesser, Marie‐Luise Preil, Aysel Önal-Akan, Friedrich Stock, Dietmar Müller et al. · 2013 · Journal of Investigative Dermatology
50. Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations
    Ellen S. Regalado, Dongchuan Guo, Siddharth K. Prakash, Tracy A Bensend, Kelly Flynn, Anthony L. Estrera, Hazim J. Safi, David H. Liang, James C. Hyland, Anne H. Child et al. · 2015 · Circulation Cardiovascular Genetics
51. eXtasy: variant prioritization by genomic data fusion
    Alejandro Sifrim, Dusan Dj. Popovic, Léon-Charles Tranchevent, Amin Ardeshirdavani, Ryo Sakai, Peter Könings, Joris Robert Vermeesch, Jan A Aerts, Bart De Moor, Yves Moreau · 2013 · Nature Methods
52. Genomics and the Contrasting Dynamics of Annual and Perennial Domestication
    Brandon S. Gaut, Concepción M. Díez, Peter Laurent Morrell · 2015 · Trends in Genetics
53. Molecular findings from 537 individuals with inherited retinal disease
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54. Interactome INSIDER: a structural interactome browser for genomic studies
    Michael J. Meyer, Juan Felipe Beltrán, Siqi Liang, Robert Fragoza, Aaron Rumack, Jin Hua Liang, Xiaomu Wei, Haiyuan Yu · 2018 · Nature Methods
55. Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis
    Caroline Kannengiesser, Raphaël Borie, Christelle Ménard, Marion Réocreux, Patrick Nitschké, Steven Gazal, Hervé Mal, Camille Taillé, Jacques L. Cadranel, Hilario Nunès et al. · 2015 · European Respiratory Journal
56. DGAT1 mutation is linked to a congenital diarrheal disorder
    Joel T. Haas, Harland S. Winter, Elaine T. Lim, Andrew W. Kirby, Brendan S. Blumenstiel, Matthew T. DeFelice, Stacey Gabriel, Chaim Jalas, David Branski, Carrie A. Grueter et al. · 2012 · Journal of Clinical Investigation
57. The mutational landscape of phosphorylation signaling in cancer
    Jüri Reimand, Omar Wagih, Gary D. Bader · 2013 · Scientific Reports
58. Loss of SUFU Function in Familial Multiple Meningioma
    Mervi Aavikko, Song-Ping Li, Silva Saarinen, Pia Alhopuro, Eevi Kaasinen, Ekaterina Yu. Morgunova, Yilong Li, Kari Vesanen, Miriam Jane Smith, D. Gareth Evans et al. · 2012 · The American Journal of Human Genetics
59. Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease
    Yohei Kirino, Qing Zhou, Yoshiaki Ishigatsubo, Nobuhisa Mizuki, İlknur Tuğal-Tutkun, Emire Seyahi, Yılmaz Özyazgan, Serdal Uğurlu, Burak Erer, Neslihan Abacı et al. · 2013 · Proceedings of the National Academy of Sciences
60. Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease
    Jan Lukáš, Anne‐Katrin Giese, Arseni Markoff, Ulrike Grittner, E. H. Kolodny, Hermann J. Mascher, Karl Johannes Lackner, Wolfgang T. Meyer, Phillip Wree, Viatcheslav Saviouk et al. · 2013 · PLoS Genetics
61. Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease
    Young‐Hwan Hwang, John Conklin, Winnie Chan, Nicole M. Roslin, Jannel Liu, Ning He, Kairong Wang, Jamie L. Sundsbak, Christina M. Heyer, Masoom A. Haider et al. · 2015 · Journal of the American Society of Nephrology
62. MUFFINN: cancer gene discovery via network analysis of somatic mutation data
    Ara Cho, Jung Eun Shim, Eiru Kim, Fran Supek, Ben Lehner, Insuk Lee · 2016 · Genome biology
63. A review of deep learning applications in human genomics using next-generation sequencing data
    W. Alharbi, Mamoon Rashid · 2022 · Human Genomics
64. Detecting false-positive signals in exome sequencing
    Karin V. Fuentes Fajardo, David R. Adams, NISC Comparative Sequencing Program, Christopher E. Mason, Murat Sincan, Cynthia J. Tifft, Camilo Toro, Cornelius F. Boerkoel, William Allen Gahl, Thomas C. Markello · 2012 · Human Mutation
65. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis
    Laura Valle, Eva Hernández‐Illán, Fernando Bellido, Gemma Aiza, Adela Castillejo, M.I. Castillejo, Matilde Navarro, Núria Seguí, Gardenia Vargas‐Parra, Carla Guarinós et al. · 2014 · Human Molecular Genetics
66. The keratoconus enigma: A review with emphasis on pathogenesis
    Giulio Ferrari, Paolo Rama · 2020 · The Ocular Surface
67. Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots
    Saaket Agrawal, Minxian Wang, Marcus D. R. Klarqvist, Kirk Smith, Joseph H. Shin, Hesam Dashti, Nathaniel Diamant, Seung Hoan Choi, Sean Joseph Jurgens, Patrick T. Ellinor et al. · 2022 · Nature Communications
68. Recessive gene disruptions in autism spectrum disorder
    Autism Sequencing Consortium, Doan, Ryan N., Lim, Elaine T., De Rubeis, Silvia, Betancur, Catalina, Cutler, David J., Chiocchetti, Andreas G., Overman, Lynne M., Soucy, Aubrie, Goetze, Susanne et al. · 2019 · Nature Genetics
69. SIFT Indel: Predictions for the Functional Effects of Amino Acid Insertions/Deletions in Proteins
    Jing Hu, Pauline C. Ng · 2013 · PLoS ONE
70. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing
    Wang, Xia, Wang, Hui, Sun, Vincent, Tuan, Han-Fang, Keser, Vafa, Wang, Keqing, Ren, Huanan, Lopez, Irma, Zaneveld, Jacques E, Siddiqui, Sorath et al. · 2013 · Journal of Medical Genetics
71. Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome
    Kinga M. Bujakowska, Qi Zhang, Anna M. Siemiatkowska, Qin Liu, Emily Place, Marni J. Falk, Mark B. Consugar, Marie‐Elise Lancelot, Aline Antonio, Christine Lonjou et al. · 2014 · Human Molecular Genetics
72. Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation
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73. Pharmacogenomic Biomarkers for Improved Drug Therapy—Recent Progress and Future Developments
    Volker Martin Lauschke, Lili A. Milani, Magnus Ingelman‐Sundberg · 2017 · The AAPS Journal
74. Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1
    Jie Zhou, Marcel Tawk, Francesco Danilo Tiziano, Julien Veillet, Mónica Bayés, Flora Nolent, Virginie Garcia, Serenella Servidei, Enrico Bertini, Francesc Castro-Giner et al. · 2012 · The American Journal of Human Genetics
75. A patient tumor transplant model of squamous cell cancer identifies PI3K inhibitors as candidate therapeutics in defined molecular bins
    Stephen B. Keysar, David P. Astling, Ryan T. Anderson, Brian W. Vogler, Daniel W. Bowles, J. Jason Morton, Jeramiah J. Paylor, Magdalena J. Glogowska, Phuong N. Le, Justin R. Eagles-Soukup et al. · 2013 · Molecular Oncology
76. Identification of the VERNALIZATION 4 gene reveals the origin of spring growth habit in ancient wheats from South Asia
    Néstor Kippes, Juan Manuel Debernardi, Hans A. Vasquez-Gross, Bala Anı Akpınar, Hikmet Budak, Kenji Kato, Shiaoman Chao, Eduard Akhunov, Jorge Dubcovsky · 2015 · Proceedings of the National Academy of Sciences
77. Defects in Nicotinamide-adenine Dinucleotide Phosphate Oxidase Genes NOX1 and DUOX2 in Very Early Onset Inflammatory Bowel Disease
    Patti Hayes, Sandeep Dhillon, Kim O’Neill, Cornelia E. Thoeni, Ken Y. Hui, Abdul Aziz Elkadri, Conghui Guo, Lidija Kovačič, Gabriella Aviello, Luis Álvarez et al. · 2015 · Cellular and Molecular Gastroenterology and Hepatology
78. Disease-Associated Mutations Disrupt Functionally Important Regions of Intrinsic Protein Disorder
    Vladimir Vacic, Phineus R. L. Markwick, Christopher J. Oldfield, Xiaoyue Zhao, Chad A. Haynes, Vladimir Nikolaevich Uversky, Lilia M. Iakoucheva · 2012 · PLoS Computational Biology
79. Point-of-care whole-exome sequencing of idiopathic male infertility
    Khalid Adnan Fakhro, Haitham Elbardisi, Mohamed Mostafa Arafa, Amal Robay, Juan L. Rodríguez-Flores, Jason G. Mezey, Ronald G. Crystal, Alya Al-Shakaki, Najeeb Syed, Charbel Abi Khalil et al. · 2018 · Genetics in Medicine
80. A DNAH17 missense variant causes flagella destabilization and asthenozoospermia
    Beibei Zhang, Hui Ma, Teka Khan, Ao Ma, Tao Li, Huan Zhang, Jianing Gao, Jianteng Zhou, Yang Li, Changping Yu et al. · 2019 · The Journal of Experimental Medicine
81. A Longitudinal Study of Stargardt Disease: Quantitative Assessment of Fundus Autofluorescence, Progression, and Genotype Correlations
    Kaoru Fujinami, Noemi Lois, Rajarshi Mukherjee, Vikki A. McBain, Kazushige Tsunoda, Kazuo Tsubota, Edwin M. Stone, Frederick W. Fitzke, Catey Bunce, Anthony T. Moore et al. · 2013 · Investigative Ophthalmology & Visual Science
82. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database
    Matthew Bower, Rémi Salomon, Judith E Allanson, Corinne Antignac, Francesco Benedicenti, Elisa Benetti, Gil Binenbaum, Uffe Birk Jensen, Pierre Cochat, Stéphane Decramer et al. · 2011 · Human Mutation
83. Elephantid Genomes Reveal the Molecular Bases of Woolly Mammoth Adaptations to the Arctic
    Vincent J. Lynch, Oscar C. Bedoya-Reina, Aakrosh Ratan, Michael A. Sulak, Daniela I. Drautz‐Moses, George H. Perry, Webb Miller, Stephan Christoph Schuster · 2015 · Cell Reports
84. Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema
    Åsa Johansson, Mathias Rask‐Andersen, Torgny Karlsson, Weronica E. Ek · 2019 · Human Molecular Genetics
85. SMARCA4 and Other SWItch/Sucrose NonFermentable Family Genomic Alterations in NSCLC: Clinicopathologic Characteristics and Outcomes to Immune Checkpoint Inhibition
    Joao V. Alessi, Biagio Ricciuti, Liam Flinn Spurr, Hersh V. Gupta, Yvonne Y. Li, Carolyn Glass, Mizuki Nishino, Andrew D. Cherniack, James R. Lindsay, Bijaya Sharma et al. · 2021 · Journal of Thoracic Oncology
86. Germline TP53 Variants and Susceptibility to Osteosarcoma
    Mirabello, Lisa, Yeager, Meredith, Mai, Phuong L., Gastier-Foster, Julie M., Gorlick, Richard, Khanna, Chand, Patiño-Garcia, Ana, Sierrasesúmaga, Luis, Lecanda, Fernando, Andrulis, Irene L. et al. · 2015 · JNCI Journal of the National Cancer Institute
87. Mutation of the ATP-gated P2X 2 receptor leads to progressive hearing loss and increased susceptibility to noise
    Denise Lu Shun Yan, Yan Zhu, Tom Walsh, Dinghua Xie, Huijun Yuan, Aslı Sırmacı, Taro Fujikawa, Ann Chi Yan Wong, Tze Ling Loh, Lilin Du et al. · 2013 · Proceedings of the National Academy of Sciences
88. Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course
    Núria Setó‐Salvia, Javier Pagonabarraga, Henry Houlden, Berta Pascual‐Sedano, Oriol Dols‐Icardo, Arianna Tucci, Coro Paisán‐Ruiz, Antònia Campolongo, Sofía Antón‐Aguirre, I Rodríguez Martín et al. · 2011 · Movement Disorders
89. Alström Syndrome: Mutation Spectrum of ALMS1
    Jan D. Marshall, Jean Muller, Gayle B. Collin, Gabriella Milan, Stephen Francis Kingsmore, Darrell Lee Dinwiddie, Emily Farrow, Neil Miller, Francesca Favaretto, Pietro Maffei et al. · 2015 · Human Mutation
90. RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease
    Alana C. Cecchi, Dongchuan Guo, Zhao Ren, Kelly Flynn, Regie Lyn P. Santos‐Cortez, Suzanne M. Leal, Gao T. Wang, Ellen S. Regalado, Gary Kenneth Steinberg, Jay Shendure et al. · 2014 · Stroke
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