A method and server for predicting damaging missense mutations.

Cited by (1,113)

Items 901–1,000 of 1,113

1. Germline Mutations in <i>CIDEB</i> and Protection against Liver Disease
   Verweij, Niek, Haas, Mary E., Nielsen, Jonas B., Sosina, Olukayode A., Kim, Minhee, Akbari, Parsa, De, Tanima, Hindy, George, Bovijn, Jonas, Persaud, Trikaldarshi et al. · 2022 · New England Journal of Medicine
2. Thematic Review Series: Phospholipases: Central Role in Lipid Signaling and Disease
   Rochelle K. Nelson, Michael A. Frohman · 2015 · Journal of Lipid Research
3. Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model
   Maria M. Alves, Yunia Sribudiani, Rutger W. W. Brouwer, Jeanne Amiel, Guillermo Antiñolo, Salud Borrego, Isabella Ceccherini, Aravinda Chakravarti, Raquel M. Fernández, María-Mercé García-Barceló et al. · 2013 · Developmental Biology
4. Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele
   Adrienne Tin, Owen M. Woodward, Wen Hong Linda Kao, Ching‐Ti Liu, Xiaoning Lu, Mike A. Nalls, Daniel Shriner, Mariam Semmo, Ermeg L. Akylbekova, Sharon B. Wyatt et al. · 2011 · Human Molecular Genetics
5. Phenotypic Profiling of DPYD Variations Relevant to 5-Fluorouracil Sensitivity Using Real-time Cellular Analysis and In Vitro Measurement of Enzyme Activity
   Steven M. Offer, Natalie J. Wegner, Croix C. Fossum, Kangsheng Wang, Robert B. Diasio · 2013 · Cancer Research
6. Novel mutations expand the clinical spectrum of DYNC1H1 -associated spinal muscular atrophy
   Mariacristina Scoto, Alexander Martin Rossor, Matthew B. Harms, Sebahattin Çırak, Mattia Calissano, Stephanie Ann Robb, Adnan Yousaf Manzur, Amaia Martínez Arroyo, Aida Rodriguez Sanz, Sahar Mansour et al. · 2015 · Neurology
7. Helios is a key transcriptional regulator of outer hair cell maturation
   Lauren Chessum, Maggie S. Matern, Michael C. Kelly, Stuart L. Johnson, Yoko Ogawa, Beatrice C. Milon, Mark McMurray, Elizabeth Carroll Driver, Andrew J. Parker, Yang Song et al. · 2018 · Nature
8. Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci
   Abdullah Mesut Erzurumluoglu, Mengzhen Liu, Victoria E. Jackson, Daniel R. Barnes, Gargi Datta, Carl Melbourne, Robin Young, Chiara Batini, Praveen Surendran, Tao Jiang et al. · 2019 · Molecular Psychiatry
9. CHASMplus Reveals the Scope of Somatic Missense Mutations Driving Human Cancers
   Collin J. Tokheim, Rachel Karchin · 2019 · Cell Systems
10. Clinical Analysis and Interpretation of Cancer Genome Data
    Eliezer M. Van Allen, Nikhil Wagle, Mia Alyce Levy · 2013 · Journal of Clinical Oncology
11. Quantitative and Qualitative Proteome Characteristics Extracted from In-Depth Integrated Genomics and Proteomics Analysis
    Teck Yew Low, Sebastiaan van Heesch, Henk van den Toorn, Piero Giansanti, Alba Cristobal, Pim W. Toonen, Sebastian Schäfer, Norbert Hübner, Bas van Breukelen, Shabaz Mohammed et al. · 2013 · Cell Reports
12. EASE-MM: Sequence-Based Prediction of Mutation-Induced Stability Changes with Feature-Based Multiple Models
    Lukas Folkman, Bela Stantić, Abdul Sattar, Yaoqi Zhou · 2016 · Journal of Molecular Biology
13. mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural Proteome
    Michael J. Meyer, Ryan Lapcevic, Alfonso E. Romero, Mark Yoon, Jishnu Das, Juan Felipe Beltrán, Matthew E. Mort, Peter D. Stenson, D.N. Cooper, Alberto Paccanaro et al. · 2016 · Human Mutation
14. Variation Interpretation Predictors: Principles, Types, Performance, and Choice
    Abhishek Niroula, Mauno Vihinen · 2016 · Human Mutation
15. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis
    Sheng Wang, Jeffrey D. Mandell, Yogesh Kumar, Nawei Sun, Montana T. Morris, Juan Arbelaez, Cara Nasello, Shan Dong, Clif Duhn, Xin Zhao et al. · 2018 · Cell Reports
16. Rare Protein-Altering Telomere-related Gene Variants in Patients with Chronic Hypersensitivity Pneumonitis
    Brett Ley, Dara G. Torgerson, Justin M. Oldham, Ayodeji Adegunsoye, Shuo Liu, Jie Li, Brett M. Elicker, Travis S. Henry, Jeffrey Alan Golden, Kirk D. Jones et al. · 2019 · American Journal of Respiratory and Critical Care Medicine
17. Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability
    Lam Son Nguyen, Lachlan A. Jolly, Cheryl Shoubridge, Wai-Kin Chan, Lulu Huang, Frédéric Laumonnier, Martine Raynaud, Anna Hackett, Michael J. Field, Jayson D. Rodriguez et al. · 2011 · Molecular Psychiatry
18. Genome-wide association study of CSF levels of 59 Alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation
    Kauwe, John S. K., Bailey, Matthew H., Ridge, Perry G., Perry, Rachel, Wadsworth, Mark E., Hoyt, Kaitlyn L., Staley, Lyndsay A., Karch, Celeste M., Harari, Oscar, Cruchaga, Carlos et al. · 2014 · PLoS Genetics
19. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism
    Chahrour, Maria H., Yu, Timothy W., Lim, Elaine T., Ataman, Bulent, Coulter, Michael E., Hill, R. Sean, Stevens, Christine R., Schubert, Christian R., ARRA Autism Sequencing Collaboration, Greenberg, Michael E. et al. · 2012 · PLoS Genetics
20. Human germline heterozygous gain-of-function <i>STAT6</i> variants cause severe allergic disease
    Sharma, Mehul, Leung, Daniel, Momenilandi, Mana, Jones, Lauren C.W., Pacillo, Lucia, James, Alyssa E., Murrell, Jill R., Delafontaine, Selket, Maimaris, Jesmeen, Vaseghi-Shanjani, Maryam et al. · 2023 · Journal of Experimental Medicine
21. Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia
    Nancy D. Merner, Madison R. Chandler, Cynthia V. Bourassa, Bo Liang, Arjun R. Khanna, Patrick A. Dion, Guy Armand Rouleau, Kristopher Thomas Kahle · 2015 · Frontiers in Cellular Neuroscience
22. Genomic variations of the mevalonate pathway in porokeratosis
    Zhenghua Zhang, Caihua Li, Fei Wu, Ruixiao Ma, Jing Yuan Luan, Feng Juan Yang, Weida Liu, Lı Wang, Shoumin Zhang, Yan Liu et al. · 2015 · eLife
23. Next generation sequencing in cancer research and clinical application
    Derek Shyr, Qi Liu · 2013 · Biological Procedures Online
24. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
    Gavin Arno, Smriti A. Agrawal, Aiden Eblimit, James Bellingham, Mingchu Xu, Feng Wang, Christina F. Chakarova, David A. Parfitt, Amelia Lane, Thomas Burgoyne et al. · 2016 · The American Journal of Human Genetics
25. The Contribution of Missense Mutations in Core and Rim Residues of Protein–Protein Interfaces to Human Disease
    Alessia David, Michael J.E. Sternberg · 2015 · Journal of Molecular Biology
26. BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome
    Alejandro Estrada‐Cuzcano, Robert Karel Koenekoop, Audrey Sénéćhal, Elfride B. W. De Baere, Thomy J.L. de Ravel, Sandro Banfi, Susanne Kohl, Carmen Ayuso, Dror Sharon, Carel B. Hoyng et al. · 2012 · Archives of Ophthalmology
27. Identification of cis-suppression of human disease mutations by comparative genomics
    Task Force for Neonatal Genomics, Jordan, Daniel M., Frangakis, Stephan G., Golzio, Christelle, Cassa, Christopher A., Kurtzberg, Joanne, Davis, Erica E., Sunyaev, Shamil R., Katsanis, Nicholas · 2015 · Nature
28. Variants in saposin D domain of prosaposin gene linked to Parkinson’s disease
    Oji, Yutaka, Hatano, Taku, Ueno, Shin-Ichi, Funayama, Manabu, Ishikawa, Kei-ichi, Okuzumi, Ayami, Noda, Sachiko, Sato, Shigeto, Satake, Wataru, Toda, Tatsushi et al. · 2020 · Brain
29. Expanding the Clinical Phenotype Associated With<i>ELOVL4</i>Mutation: Study of a Large French-Canadian Family With Autosomal Dominant Spinocerebellar Ataxia and Erythrokeratodermia
    Cadieux-Dion, Maxime, Turcotte-Gauthier, Maude, Noreau, Anne, Martin, Caroline, Meloche, Caroline, Gravel, Micheline, Drouin, Christian Allen, Rouleau, Guy A., Nguyen, Dang Khoa, Cossette, Patrick · 2014 · JAMA Neurology
30. CYP2R1Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency
    Tom D. Thacher, Philip R. Fischer, Ravinder Jit Singh, Jeffrey D. Roizen, Michael A. Levine · 2015 · The Journal of Clinical Endocrinology & Metabolism
31. De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy
    Sahar Esmaeeli Nieh, Maura R.Z. Madou, Minhajuddin Sirajuddin, Brieana Fregeau, Dianalee McKnight, Katrina W. Lexa, Jonathan B. Strober, Christine G. Spaeth, Barbara E. Hallinan, Nizar Smaoui et al. · 2015 · Annals of Clinical and Translational Neurology
32. A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip
    Εvangelos Εvangelou, Hanneke J. M. Kerkhof, Unnur Styrkársdóttir, Evangelia Ntzani, Steffan D. Bos, Tõnu Esko, Daniel S. Evans, Sarah Metrustry, Kalliope Panoutsopoulou, Y.F. Ramos et al. · 2013 · Annals of the Rheumatic Diseases
33. Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes
    Sze Chern Lim, Martin Friemel, Justine E. Marum, Elena J. Tucker, Damien L. Bruno, Lisa G. Riley, John Christodoulou, Edwin Philip Kirk, Avihu Boneh, Christine M. DeGennaro et al. · 2013 · Human Molecular Genetics
34. LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner
    Bisei Ohkawara, Macarena Cabrera‐Serrano, Tomohiko Nakata, Margherita Milone, Nobuyuki Asai, Kenyu Ito, Mikako Ito, Akio Masuda, Yasutomo Ito, Andrew G. Engel et al. · 2013 · Human Molecular Genetics
35. Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels
    David Kavanagh, Y. Yu, Elizabeth C. Schramm, Michael P. Triebwasser, Erin K. Wagner, Soumya Raychaudhuri, Mark J. Daly, John P. Atkinson, Johanna M. Seddon · 2015 · Human Molecular Genetics
36. Mucosa-associated microbiota signature in colorectal cancer
    Renyuan Gao, Cheng Kong, L. Huang, Hanzeng Li, X. Qu, Z. Liu, Ping Lan, Jing Wang, Huanlong Qin · 2017 · European Journal of Clinical Microbiology & Infectious Diseases
37. DUX4 Suppresses MHC Class I to Promote Cancer Immune Evasion and Resistance to Checkpoint Blockade
    Guo-Liang Chew, Amy E. Campbell, Emma De Neef, Nicholas A. Sutliff, Sean C. Shadle, Stephen J. Tapscott, Robert K. Bradley · 2019 · Developmental Cell
38. Mutations in G Protein–Coupled Receptors: Mechanisms, Pathophysiology and Potential Therapeutic Approaches
    Torsten Schöneberg, Ines Liebscher · 2020 · Pharmacological Reviews
39. Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
    Lisa Ewans, André E. Minoche, DEBORAH J. SCHOFIELD, Rupendra N. Shrestha, Clare Puttick, Ying Zhu, Alexander P. Drew, Velimir Gayevskiy, George Elakis, Corrina Walsh et al. · 2022 · European Journal of Human Genetics
40. Towards precision medicine: advances in computational approaches for the analysis of human variants
    Peterson, Thomas A., Doughty, Emily, Kann, Maricel G. · 2013 · Journal of Molecular Biology
41. Whole-genome and whole-exome sequencing in neurological diseases
    Jia Nee Foo, Jianjun Liu, Eng‐King Tan · 2012 · Nature Reviews Neurology
42. Variants in Nicotinamide Adenine Dinucleotide Phosphate Oxidase Complex Components Determine Susceptibility to Very Early Onset Inflammatory Bowel Disease
    Sandeep S. Dhillon, Ramzi Fattouh, Abdul Aziz Elkadri, Wei Xu, Ryan Murchie, Thomas D. Walters, Conghui Guo, David R. Mack, Hien Quoc Huynh, Shairaz Baksh et al. · 2014 · Gastroenterology
43. Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta
    David A. Parry, James A. Poulter, Clare V. Logan, Steven Joseph Brookes, Hussain Jafri, Christopher H. Ferguson, Babra M. Anwari, Yasmin Abdul Rashid, Haiqing Zhao, Colin A. Johnson et al. · 2013 · The American Journal of Human Genetics
44. Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes
    Robert B. Hufnagel, Gavin Arno, Nichole D. Hein, Joshua Hersheson, Megana K. Prasad, Yvonne C. Anderson, Laura A Krueger, Louise Cheryl Gregory, Corinne Stoetzel, Thomas J. Jaworek et al. · 2014 · Journal of Medical Genetics
45. Predicting the effects of frameshifting indels
    Jing Hu, Pauline C. Ng · 2012 · Genome biology
46. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
    Malin Kvarnung, Daniel Nilsson, Anna Lindstrand, Georg Christoph Korenke, Samuel C. C. Chiang, Elisabeth Blennow, Markus Bergmann, Tommy Stödberg, Outi Mäkitie, Britt‐Marie Anderlid et al. · 2013 · Journal of Medical Genetics
47. Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology
    Kevin K. Ogden, Wenjuan Chen, Sharon A. Swanger, Miranda J. McDaniel, Linlin Z. Fan, Chun Hu, Anel Tankovic, Hirofumi Kusumoto, Gabrielle J. Kosobucki, Anthony J. Schulien et al. · 2017 · PLoS Genetics
48. How chromosomal inversions reorient the evolutionary process
    Emma L. Berdan, Nick Barton, Roger Kenneth Butlin, Brian Charlesworth, Rui Faria, Inês Fragata, Kimberly J. Gilbert, Paul Jay, Martin Kapun, Katie E. Lotterhos et al. · 2023 · Journal of Evolutionary Biology
49. Correction: Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture
    Stuart K. Kim · 2019 · PLoS ONE
50. CanDrA: Cancer-Specific Driver Missense Mutation Annotation with Optimized Features
    Yong Mao, Han Chen, Han Liang, Funda Meric‐Bernstam, Gordon Brent Mills, Ken Chen · 2013 · PLoS ONE
51. Novel genomic techniques open new avenues in the analysis of monogenic disorders
    Gregor Kuhlenbäumer, Julia Hullmann, Silke Appenzeller · 2010 · Human Mutation
52. Activating Mutations in PTPN3 Promote Cholangiocarcinoma Cell Proliferation and Migration and Are Associated With Tumor Recurrence in Patients
    Qiang Gao, Yingjun Zhao, Xiaoying Wang, Weijie Guo, Song Gao, Lin Wei, Jie-Yi Shi, Guo‐Ming Shi, Zhichao Wang, Yuannv Zhang et al. · 2014 · Gastroenterology
53. Clinical and Molecular Analysis of Stargardt Disease With Preserved Foveal Structure and Function
    Kaoru Fujinami, Panagiotis I. Sergouniotis, Alice E. Davidson, Genevieve Wright, Ravinder K. Chana, Kazushige Tsunoda, Kazuo Tsubota, Catherine A. Egan, Anthony G. Robson, Anthony T. Moore et al. · 2013 · American Journal of Ophthalmology
54. Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals
    Sorahia Domenice, Aline Zamboni Machado, Frederico Moraes Ferreira, Bruno Ferraz‐de‐Souza, Antônio Marcondes Lerário, Lin Lin, Mirian Yumie Nishi, Nathália Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva et al. · 2016 · Birth Defects Research Part C Embryo Today Reviews
55. Unravelling the genetics of inherited retinal dystrophies: Past, present and future
    Suzanne Broadgate, Jing Yu, Susan M. Downes, Stephanie Halford · 2017 · Progress in Retinal and Eye Research
56. The contributions of rare inherited and polygenic risk to ASD in multiplex families
    Matilde Cirnigliaro, Timothy S. Chang, Stephanie A. Arteaga, Laura Pérez‐Cano, Elizabeth K. Ruzzo, Aaron Gordon, Lucy K. Bicks, Jae-Yoon Jung, Jennifer K. Lowe, Dennis Paul Wall et al. · 2023 · Proceedings of the National Academy of Sciences
57. Value of systematic genetic screening of patients with amyotrophic lateral sclerosis
    Shepheard, Stephanie R, Parker, Matthew D, Cooper-Knock, Johnathan, Verber, Nick S, Tuddenham, Lee, Heath, Paul, Beauchamp, Nick, Place, Elsie, Sollars, Elizabeth S A, Turner, Martin R et al. · 2021 · Journal of Neurology, Neurosurgery &amp; Psychiatry
58. Ancestry-driven recalibration of tumor mutational burden and disparate clinical outcomes in response to immune checkpoint inhibitors
    Nassar, Amin H., Adib, Elio, Abou Alaiwi, Sarah, El Zarif, Talal, Groha, Stefan, Akl, Elie W., Nuzzo, Pier Vitale, Mouhieddine, Tarek H., Perea-Chamblee, Tomin, Taraszka, Kodi et al. · 2022 · Cancer Cell
59. RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
    Susan J. Hassed, Graham B. Wiley, Shaofeng Wang, Ji-Yun Lee, Shibo Li, Weihong Xu, Zhizhuang Joe Zhao, John Joseph Mulvihill, James A. Robertson, James Warner et al. · 2012 · The American Journal of Human Genetics
60. Targeted next-generation sequencing panel (GlioSeq) provides comprehensive genetic profiling of central nervous system tumors
    Marina N. Nikiforova, Abigail I. Wald, Melissa A. Melan, Somak Roy, Shan Zhong, Ronald L. Hamilton, Frank Scott Lieberman, Jan Drappatz, Nduka Amankulor, Ian F. Pollack et al. · 2015 · Neuro-Oncology
61. SZDB: A Database for Schizophrenia Genetic Research
    Yong Wu, Yong‐Gang Yao, Xiong‐Jian Luo · 2016 · Schizophrenia Bulletin
62. Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations
    Yi Wang, Cindy S. Ma, Yun Ling, Aziz A. Bousfiha, Yıldız Çamcıoğlu, Serge Jacquot, Kathryn J. Payne, Elena Crestani, Romain Roncagalli, Aziz Belkadi et al. · 2016 · The Journal of Experimental Medicine
63. Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies
    Junjun Wang, Qingyun Liu, Shuai Yuan, Weijia Xie, Yuan Liu, Ying Xiang, Na Wu, Long Wu, Xiangyu Ma, Tongjian Cai et al. · 2017 · Scientific Reports
64. Germline breast cancer susceptibility gene mutations and breast cancer outcomes
    Yong Alison Wang, Jhih-Wei Jian, Chen‐Fang Hung, Hung‐Pin Peng, Chi‐Fan Yang, Skye Hung‐Chun Cheng, An‐Suei Yang · 2018 · BMC Cancer
65. Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella
    Guillaume Martinez, Zine‐Eddine Kherraf, Raoudha Zouari, Sélima Fourati Ben Mustapha, Antoine Saut, Karin Pernet‐Gallay, Anne Bertrand, Marie Bidart, Jean Pascal Hograindleur, Amir Amiri‐Yekta et al. · 2018 · Human Reproduction
66. Predicting and interpreting large-scale mutagenesis data using analyses of protein stability and conservation
    Magnus Haraldson Høie, Matteo Cagiada, Anders Haagen Beck Frederiksen, Amelie Stein, Kresten Lindorff‐Larsen · 2022 · Cell Reports
67. Combining Highly Multiplexed PCR with Semiconductor-Based Sequencing for Rapid Cancer Genotyping
    Carol Beadling, Tanaya L. Neff, Michael Charles Heinrich, Katherine Rhodes, Michael Thornton, John H. Leamon, Mark Andersen, Christopher L. Corless · 2012 · Journal of Molecular Diagnostics
68. Functional annotation of colon cancer risk SNPs
    Lijing Yao, Yu Gyoung Tak, Benjamin P. Berman, Peggy Farnham · 2014 · Nature Communications
69. Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome
    Amélie Bonnefond, Emmanuelle Durand, Olivier Sand, Franck De Graeve, Sophie Gallina, Kanetee Busiah, Stéphane Lobbens, Albane Simon, Christine Bellanné‐Chantelot, Louis Létourneau et al. · 2010 · PLoS ONE
70. Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes
    Katja Christodoulou, Anthony Edward Wiskin, Jane Gibson, William Tapper, Claire Willis, Nadeem Ahmad Afzal, Rosanna Upstill‐Goddard, John W. Holloway, Michael A. Simpson, R Mark Beattie et al. · 2012 · Gut
71. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)
    Natassia Moreira Vieira, Michel Satya Naslavsky, Luciana Licínio, Fernando Kok, David Schlesinger, Mariz Vainzof, Nury Sanchez, João Paulo Kitajima, Lihi Gal, Natale Cavaçana et al. · 2014 · Human Molecular Genetics
72. Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation
    Eline M. C. Hamilton, Emiel Polder, Adeline L. Vanderver, Sakkubai Naidu, Raphael Schiffmann, Kate Fisher, Ana Boban Raguž, Lubov Blumkin, Carola G.M. van Berkel, Quinten Waisfisz et al. · 2014 · Brain
73. Next Generation Sequencing of Circulating Cell-Free DNA for Evaluating Mutations and Gene Amplification in Metastatic Breast Cancer
    Karen Page, David S. Guttery, Daniel Fernández-García, Allison Hills, Robert K. Hastings, Jinli Luo, Kate S. Goddard, Vedia Shahin, Laura Woodley-Barker, Brenda Maria Rosales et al. · 2016 · Clinical Chemistry
74. m7GHub: deciphering the location, regulation and pathogenesis of internal mRNA N7-methylguanosine (m7G) sites in human
    Bowen Song, Yujiao Tang, Kunqi Chen, Zhen Cheng Wei, Rong Rong, Zhi-Liang Lu, Jionglong Su, João Pedro de Magalhães, Daniel John Rigden, Jia Meng · 2020 · Bioinformatics
75. Identification of Deleterious NOTCH Mutation as Novel Predictor to Efficacious Immunotherapy in NSCLC
    Kai Zhang, Xiaohua Hong, Zhengbo Song, Yu Xu, Chengcheng Li, Guoqiang Wang, Yuzi Zhang, Xiaochen Zhao, Zhengyi Zhao, Jing Zhao et al. · 2020 · Clinical Cancer Research
76. Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants
    Sumaiya Iqbal, Eduardo Pérez‐Palma, Jakob Berg Jespersen, Patrick May, David Hoksza, Henrike Heyne, Shehab Sarar Ahmed, Zaara T. Rifat, M. Sohel Rahman, Kasper Lage et al. · 2020 · Proceedings of the National Academy of Sciences
77. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis
    Smith, K. R., Dahl, H.-H. M., Canafoglia, L., Andermann, E., Damiano, J., Morbin, M., Bruni, A. C., Giaccone, G., Cossette, P., Saftig, P. et al. · 2013 · Human Molecular Genetics
78. An ancient protein-DNA interaction underlying metazoan sex determination
    Mark W. Murphy, John K. Lee, Sandra Rojo, Micah D. Gearhart, Kayo Kurahashi, Surajit Banerjee, Guy‐André Loeuille, Anu Bashamboo, Ken McElreavey, David A. Zarkower et al. · 2015 · Nature Structural & Molecular Biology
79. Phenotype-driven strategies for exome prioritization of human Mendelian disease genes
    Damian P. Smedley, Peter N. Robinson · 2015 · Genome Medicine
80. A Systematic Study of Gene Mutations in Urothelial Carcinoma; Inactivating Mutations in TSC2 and PIK3R1
    Gottfrid Sjödahl, Martin Lauss, Sigurður Guðjónsson, Fredrik Liedberg, Christer Halldén, Gunilla Chebil, Wiking Månsson, Mattias Höglund, David Lindgren · 2011 · PLoS ONE
81. Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder
    Liang Zong, Jing Guan, Megan Ealy, Qiujing Zhang, Dayong Wang, Hongyang Wang, Yali Zhao, Zhirong Shen, Colleen A. Campbell, Fengchao Wang et al. · 2015 · Journal of Medical Genetics
82. Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes
    Vivek Appadurai, Andrea E. DeBarber, Pei-Wen Chiang, Shailendra B. Patel, Robert D. Steiner, Charles R. Tyler, Penelope E. Bonnen · 2015 · Molecular Genetics and Metabolism
83. Evaluating Pathogenicity of Rare Variants From Dilated Cardiomyopathy in the Exome Era
    Nadine Norton, Peggy D. Robertson, Mark J. Rieder, Stephan L. Zuchner, Evadnie Rampersaud, Eden R. Martin, Duanxiang Li, Deborah A. Nickerson, Ray E. Hershberger · 2012 · Circulation Cardiovascular Genetics
84. MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease
    Monique Stoffels, Agata Szperl, Anna Simon, Mihai Gheorghe Netea, Theo S. Plantinga, Marcel van Deuren, Sylvia Kamphuis, Helen Jane Lachmann, Edwin P. J. G. Cuppen, Wigard P. Kloosterman et al. · 2013 · Annals of the Rheumatic Diseases
85. RNF43 is a tumour suppressor gene mutated in mucinous tumours of the ovary
    Georgina L. Ryland, Sally M. Hunter, Maria Doyle, Simone M. Rowley, Michael Christie, Prue E. Allan, David D.L. Bowtell, Georgia Chenevix‐Trench, Kylie L. Gorringe, Ian Campbell · 2012 · The Journal of Pathology
86. Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium
    Maggie C.Y. Ng, Mariaelisa Graff, Yingchang Lu, Anne E. Justice, Poorva Mudgal, Ching‐Ti Liu, Kristin L. Young, Lisa R. Yanek, Mary Furlan Feitosa, Mary K. Wojczynski et al. · 2017 · PLoS Genetics
87. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia
    Esther A. R. Nibbeling, Anna Duarri, Corien C. Verschuuren‐Bemelmans, Michiel R. Fokkens, Juha M Karjalainen, Cleo J. L. M. Smeets, Jelkje J. de Boer-Bergsma, Gerben B. van der Vries, Dennis Dooijes, Giovana Bampi et al. · 2017 · Brain
88. BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome
    Linda M. Reis, Rebecca C. Tyler, Kala F. Schilter, Omar A Abdul-Rahman, Jeffrey W. Innis, Beth A. Kozel, Adele S. Schneider, Tanya Bardakjian, Edward J. Lose, Donna M. Martin et al. · 2011 · Human Genetics
89. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
    Janneke H. M. Schuurs-Hoeijmakers, Anneke T. Vulto‐van Silfhout, Lisenka E.L.M. Vissers, Ilse I.G.M. van de Vondervoort, Bregje W.M. van Bon, Joep de Ligt, Christian Gilissen, Jayne Y. Hehir‐Kwa, Kornelia Neveling, Marisol del Rosario et al. · 2013 · Journal of Medical Genetics
90. An extended set of yeast-based functional assays accurately identifies human disease mutations
    Song Sun, Fan Yang, Guihong Tan, Michael Costanzo, Rose Oughtred, Jodi Hirschman, Chandra L. Theesfeld, Pritpal Bansal, Nidhi Sahni, S. Stephen Yi et al. · 2016 · Genome Research
91. Exome sequencing of lymphomas from three dog breeds reveals somatic mutation patterns reflecting genetic background
    Ingegerd Elvers, Jason Turner-Maier, Ross Swofford, Michele Koltookian, Jeremy Johnson, Chip Stewart, Cheng-Zhong Zhang, Steven E. Schumacher, Rameen Beroukhim, Mara W. Rosenberg et al. · 2015 · Genome Research
92. Genetics of schizophrenia in the South African Xhosa
    Gulsuner, S., Stein, D. J., Susser, E. S., Sibeko, G., Pretorius, A., Walsh, T., Majara, L., Mndini, M. M., Mqulwana, S. G., Ntola, O. A. et al. · 2020 · Science
93. Loss of SDHA Expression Identifies SDHA Mutations in Succinate Dehydrogenase–deficient Gastrointestinal Stromal Tumors
    Trisha Dwight, Diana E. Benn, Adele Clarkson, Ricardo E. Vilain, Lara Rachel Lipton, Bruce G. Robinson, Roderick John Clifton-Bligh, Anthony James Gill · 2012 · The American Journal of Surgical Pathology
94. Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man
    Patricia E. Burrows, Manuel L. Gonzalez‐Garay, John C. Rasmussen, Melissa B. Aldrich, Renie Guilliod, Erik Alberto Maus, Caroline E. Fife, Sunkuk Kwon, Philip Edward Lapinski, Philip D. King et al. · 2013 · Proceedings of the National Academy of Sciences
95. Cancer Missense Mutations Alter Binding Properties of Proteins and Their Interaction Networks
    Hafumi Nishi, Manoj G Tyagi, Shaolei Teng, Benjamin A. Shoemaker, Kosuke Hashimoto, Emil G Alexov, Stefan Wuchty, Anna R. Panchenko · 2013 · PLoS ONE
96. Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci
    Daphna Weissglas‐Volkov, Carlos Alberto Aguilar-Salinas, Elina Nikkola, Kerry A Deere, Ivette Cruz‐Bautista, Olimpia Arellano‐Campos, Linda Liliana Muñóz-Hernández, Lizeth Gómez-Munguía, María Luisa Ordóñez-Sánchez, Prasad M. V. Linga Reddy et al. · 2013 · Journal of Medical Genetics
97. Pan-Cancer Analysis of Mutation Hotspots in Protein Domains
    Martin L. Miller, Ed Reznik, Nicholas Paul Gauthier, Bülent Arman Aksoy, Anil Korkut, Jianjiong Gao, Giovanni Ciriello, Nikolaus D. Schultz, Chris Sander · 2015 · Cell Systems
98. Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2
    Cornelia S. Kraus, Juliane Hoyer, Georgia Vasileiou, Marius Wunderle, Michael Patrick Lux, Peter Andreas Fasching, Mandy Krumbiegel, Steffen Uebe, Miriam S. Reuter, Matthias W. Beckmann et al. · 2016 · International Journal of Cancer
99. Somatic mutations in clonally expanded cytotoxic T lymphocytes in patients with newly diagnosed rheumatoid arthritis
    Paula Savola, Tiina Kelkka, Hanna L. M. Rajala, Antti Kuuliala, Krista Kuuliala, Samuli Eldfors, Pekka Ellonen, Sonja Lagström, Maija Lepistö, Tiina Hannunen et al. · 2017 · Nature Communications
100. Targeted Molecular Analysis in Adrenocortical Carcinomas: A Strategy Toward Improved Personalized Prognostication
     Juliane Lippert, Silke Appenzeller, Raimunde Liang, Silviu Sbiera, Stefan Kircher, Barbara Altieri, Indrajit Nanda, Isabel Weigand, Andrea Gehrig, Sonja Steinhauer et al. · 2018 · The Journal of Clinical Endocrinology & Metabolism