A method and server for predicting damaging missense mutations.

Cited by (1,113)

Items 801–900 of 1,113

1. Short Stature, Accelerated Bone Maturation, and Early Growth Cessation Due to Heterozygous Aggrecan Mutations
   Ola Nilsson, Michael H. Guo, Nancy Dunbar, Jadranka Popovic, Daniel Flynn, Christina M. Jacobsen, Julian C. K. Lui, Joel N. Hirschhorn, Jeffrey Baron, Andrew Nahum Dauber · 2014 · The Journal of Clinical Endocrinology & Metabolism
2. A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation
   Nathan Orr, Rima Arnaout, Lorne J. Gula, DANNA A. SPEARS, Peter Leong‐Sit, Qiuju Li, Wadea M. Tarhuni, Sven Reischauer, Vijay S. Chauhan, Matthew M. Borkovich et al. · 2016 · Nature Communications
3. Comparison of carnivore, omnivore, and herbivore mammalian genomes with a new leopard assembly
   Soonok Kim, Yun Sung Cho, Hak‐Min Kim, Oksung Chung, Hyunho Kim, Sungwoong Jho, Hong Seomun, Jeongho Kim, Woo Young Bang, Changmu Kim et al. · 2016 · Genome biology
4. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations
   Alexandra Gkourogianni, Melissa Andrew, Leah Tyzinski, Melissa K. Crocker, Jessica Douglas, Nancy Dunbar, Jan M. Fairchild, Mariana F.A. Funari, Karen Elise Heath, Alexander A.L. Jorge et al. · 2016 · The Journal of Clinical Endocrinology & Metabolism
5. An optimized prediction framework to assess the functional impact of pharmacogenetic variants
   Yitian Zhou, Souren Mkrtchian, Masaki Kumondai, Masahiro Hiratsuka, Volker Martin Lauschke · 2018 · The Pharmacogenomics Journal
6. Single nucleotide variations: Biological impact and theoretical interpretation
   Panagiotis Katsonis, A. Koire, Stephen J. Wilson, Teng-Kuei Hsu, R. Lua, A. Wilkins, O. Lichtarge · 2014 · Protein Science
7. Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population
   Myriam Srour, Jeremy Schwartzentruber, Fadi F. Hamdan, Luis H. Ospina, Lysanne Patry, Damian Labuda, Christine Massicotte, Sylvia Dobrzeniecka, José‐Mario Capo‐Chichi, Simon Papillon‐Cavanagh et al. · 2012 · The American Journal of Human Genetics
8. The Wilms Tumor Gene, Wt1, Is Critical for Mouse Spermatogenesis via Regulation of Sertoli Cell Polarity and Is Associated with Non-Obstructive Azoospermia in Humans
   Xiao Na Wang, Ze Song Li, Yu Ren, Tao Jiang, Ya Qing Wang, Min Chen, Jun Zhang, Jian Xiu Hao, Yan Bo Wang, Ri Na Sha et al. · 2013 · PLoS Genetics
9. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia
   Mark E. Samuels, Jacek Majewski, Najmeh Alirezaie, Isabel Fernández, Ferrán Casals, Natacha Patey, Hélène Decaluwe, Isabelle Gosselin, Élie Haddad, Alan Hodgkinson et al. · 2013 · Journal of Medical Genetics
10. Marked differences in neurochemistry and aggregates despite similar behavioural and neuropathological features of Huntington disease in the full-length BACHD and YAC128 mice
    Mahmoud A. Pouladi, Lisa M. Stanek, Yuanyun Xie, Sonia Franciosi, Amber L. Southwell, Yu Deng, Stefanie L. Butland, Wei Zhang, Shuk Han Cheng, Lamya S. Shihabuddin et al. · 2012 · Human Molecular Genetics
11. IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty
    Sasha Rose Howard, Leonardo Guasti, Gerard Ruiz‐Babot, Alessandra Mancini, Alessia David, Helen Louise Storr, Louise Metherell, Michael J.E. Sternberg, Claudia Cabrera, Helen R. Warren et al. · 2016 · EMBO Molecular Medicine
12. High-Throughput Genomic Profiling of Adult Solid Tumors Reveals Novel Insights into Cancer Pathogenesis
    Ryan James Hartmaier, Lee A. Albacker, Juliann Chmielecki, Mark Bailey, Jie He, Michael E. Goldberg, Shakti H Ramkissoon, James H. Suh, Julia Andrea Elvin, Sam Chiacchia et al. · 2017 · Cancer Research
13. A formal perturbation equation between genotype and phenotype determines the evolutionary action of protein-coding variations on fitness
    Katsonis, Panagiotis, Lichtarge, Olivier · 2014 · Genome Research
14. Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease
    Michael R. Johnson, Kirill Shkura, Sarah R. Langley, Andrée Delahaye‐Duriez, Prashant Kumar Srivastava, William David Hill, Owen J. L. Rackham, Gail Davies, Sarah E. Harris, Aida Moreno‐Moral et al. · 2015 · Nature Neuroscience
15. Novel genetic and epigenetic factors of importance for inter-individual differences in drug disposition, response and toxicity
    Volker Martin Lauschke, Yitian Zhou, Magnus Ingelman‐Sundberg · 2019 · Pharmacology & Therapeutics
16. Pharmacogenomics of GLP-1 receptor agonists: a genome-wide analysis of observational data and large randomised controlled trials
    Adem Y. Dawed, Andrea Mari, Andrew Anand Brown, Timothy James McDonald, Lin Li, Shuaicheng Wang, Mun‐Gwan Hong, Sapna Sharma, Neil R. Robertson, Anubha Mahajan et al. · 2022 · The Lancet Diabetes & Endocrinology
17. Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes
    Flannick, Jason, Beer, Nicola L, Bick, Alexander G, Agarwala, Vineeta, Molnes, Janne, Gupta, Namrata, Burtt, Noël P, Florez, Jose C, Meigs, James B, Taylor, Herman et al. · 2013 · Nature Genetics
18. Two rare <i>AKAP9</i> variants are associated with Alzheimer's disease in African Americans
    Logue, Mark W., Schu, Matthew, Vardarajan, Badri N., Farrell, John, Bennett, David A., Buxbaum, Joseph D., Byrd, Goldie S., Ertekin‐Taner, Nilufer, Evans, Denis, Foroud, Tatiana et al. · 2014 · Alzheimer's &amp; Dementia
19. Mutations in CIZ1 cause adult onset primary cervical dystonia
    Jianfeng Xiao, Ryan J. Uitti, Yu Zhao, Satya R. Vemula, Joel S. Perlmutter, Zbigniew K. Wszołek, Demetrius M. Maraganore, Georg W. J. Auburger, Barbara Leube, Katja Lehnhoff et al. · 2012 · Annals of Neurology
20. Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60
    Aideen M McInerney-Leo, Miriam Schmidts, Claudio R. Cortés, Paul J. Leo, Blanca Gener, Andrew D. Courtney, Brooke Gardiner, Jessica A. Harris, Yeping Lu, Mhairi S. Marshall et al. · 2013 · The American Journal of Human Genetics
21. Genetic spectrum of hereditary neuropathies with onset in the first year of life
    J. Baets, T. Deconinck, E. De Vriendt, M. Zimon, L. Yperzeele, K. Van Hoorenbeeck, K. Peeters, R. Spiegel, Y. Parman, B. Ceulemans et al. · 2011 · Brain : a journal of neurology
22. Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome
    Solena Le Scouarnec, Matilde Karakachoff, Jean‐Baptiste Gourraud, Pierre Lindenbaum, Stéphanie Bonnaud, Vincent Portero, Laëtitia Duboscq-Bidot, Xavier Daumy, Floriane Simonet, Raluca Teusan et al. · 2015 · Human Molecular Genetics
23. Alpha Helices Are More Robust to Mutations than Beta Strands
    György Abrusán, Joseph A. Marsh · 2016 · PLoS Computational Biology
24. Mutation Hotspots in the β-Catenin Gene: Lessons from the Human Cancer Genome Databases.
    Sewoon Kim, Sunjoo Jeong-Yu · 2019 · Europe PMC (PubMed Central)
25. Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls
    Liu, Li, Sabo, Aniko, Neale, Benjamin M., Nagaswamy, Uma, Stevens, Christine, Lim, Elaine, Bodea, Corneliu A., Muzny, Donna, Reid, Jeffrey G., Banks, Eric et al. · 2013 · PLoS Genetics
26. DNM1L-related mitochondrial fission defect presenting as refractory epilepsy
    Care4Rare Consortium, Vanstone, Jason R, Smith, Amanda M, McBride, Skye, Naas, Turaya, Holcik, Martin, Antoun, Ghadi, Harper, Mary-Ellen, Michaud, Jean, Sell, Erick et al. · 2016 · European Journal of Human Genetics
27. Clinical and pathological impact of VHL, PBRM1, BAP1, SETD2, KDM6A, and JARID1c in clear cell renal cell carcinoma
    Lucy Gossage, Muhammed Murtaza, Andrew F. Slatter, Conrad Paul Lichtenstein, Anne Yvonne Warren, Beverley Haynes, Francesco Marass, Ian Roberts, Susan J. Shanahan, Andreas Claas et al. · 2013 · Genes Chromosomes and Cancer
28. Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease
    Morag E. Shanks, Susan M. Downes, Richard R. Copley, Stefano Lise, John Broxholme, K Hudspith, Alexandra Kwasniewska, Wayne I. L. Davies, Mark W. Hankins, Emily R Packham et al. · 2012 · European Journal of Human Genetics
29. Inactivating CUX1 mutations promote tumorigenesis
    Chi C Wong, Sancha Martin, Alistair G. Rust, Mamunur Rashid, Constantine Alifrangis, Ludmil B. Alexandrov, Jessamy C. Tiffen, Christina Kober, Anthony Richard Green, Charles E. Massie et al. · 2013 · Nature Genetics
30. DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics
    Li Liu, Jing Lei, Stephan Sanders, Arthur Jeremy Willsey, Yan Kou, Abdullah Ercument Cicek, Lambertus Klei, Cong Lu, Xin He, Mingfeng Li et al. · 2014 · Molecular Autism
31. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
    Megana K. Prasad, Véronique Geoffroy, Serge Vicaire, Bernard Jost, Michaël Dumas, Stéphanie Le Gras, Marzena Switala, Barbara Gasse, Virginie Laugel-Haushalter, Marie Paschaki et al. · 2015 · Journal of Medical Genetics
32. SCN8A encephalopathy: Research progress and prospects
    Miriam H. Meisler, Guy Helman, Michael F. Hammer, Brandy E. Fureman, William Davis Gaillard, Alan L. Goldin, Shinichi Hirose, Atsushi Ishii, Barbara L. Kroner, Christoph Lossin et al. · 2016 · Epilepsia
33. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
    Vincenzo Alessandro Gennarino, Elizabeth E. Palmer, Laura M. McDonell, Li Wang, Carolyn J. Adamski, Amanda M. Koire, Lauren See, Chun‐An Chen, Christian Patrick Schaaf, Jill Anne Rosenfeld et al. · 2018 · Cell
34. The lysine‐specific methyltransferase KMT2C/MLL3 regulates DNA repair components in cancer
    Theodoros N Rampias, Dimitris Karagiannis, Margaritis Avgeris, Alexander Polyzos, Antonis Kokkalis, Zoi Kanaki, Evgenia Kousidou, Maria Tzetis, Emmanouil Kanavakis, KONSTANTINOS G. STRAVODIMOS et al. · 2019 · EMBO Reports
35. Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion
    Onur Emre Onat, Süleyman Gülsüner, Kaya Bilgüvar, A. Nazlı Başak, Haluk Topaloğlu, Meli̇ha Tan, Üner Tan, Murat Günel, Tayfun Özçelık · 2012 · European Journal of Human Genetics
36. Mutations of epigenetic regulatory genes are common in thymic carcinomas
    Yisong Wang, Anish Thomas, Christopher C. Lau, Arun Rajan, Yuelin Jack Zhu, J. Keith Killian, Iacopo Petrini, Trung C. Pham, Betsy Morrow, Xiaogang Zhong et al. · 2014 · Scientific Reports
37. Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A
    Chundi Vinay Kumar, Rayapadi G. Swetha, Anand Anbarasu, Sudha Ramaiah · 2014 · Advances in Bioinformatics
38. Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease
    Hilal Ünal Gülsüner, Süleyman Gülsüner, Fatma Nazlı Mercan, Onur Emre Onat, Tom Walsh, Hashem Shahin, Ming K. Lee, Okan Doğu, Tülay Kansu, Haluk Topaloğlu et al. · 2014 · Proceedings of the National Academy of Sciences
39. Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
    Charlotte L. Alston, James E. Davison, Francesca Meloni, Francois Hendrikus van der Westhuizen, Langping He, Hue‐Tran Hornig‐Do, Andrew C. Peet, Paul Gissen, Paola Goffrini, Ileana Ferrero et al. · 2012 · Journal of Medical Genetics
40. Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity
    Prithvi Raj, Ekta Rai, Ran Song, Shaheen Khan, Benjamin Wakeland, Kasthuribai Viswanathan, Carlos Arana, Chaoying Liang, Bo Zhang, Igor M. Dozmorov et al. · 2016 · eLife
41. Molecular basis of Leigh syndrome: a current look
    Manuela Schubert Baldo, Laura Vilarinho · 2020 · Orphanet Journal of Rare Diseases
42. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
    Vivien Béziat, Simon Jan Tavernier, Yin‐Huai Chen, Cindy S. Ma, Marie Materna, Arian D. J. Laurence, Jens Staal, Dominik Aschenbrenner, Lisa Roels, Lisa Worley et al. · 2020 · The Journal of Experimental Medicine
43. Assessing performance of pathogenicity predictors using clinically relevant variant datasets
    Adam C. Gunning, Verity Fryer, James Fasham, Andrew H. Crosby, Sian Ellard, Emma L. Baple, Caroline Fiona Wright · 2020 · Journal of Medical Genetics
44. Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease
    Miriam Schmidts, Valeska Frank, Tobias Eisenberger, Saeed H. Al Turki, Albane A. Bizet, Dinu Antony, Suzanne Rix, Christian Decker, Nadine Bachmann, Martin Bald et al. · 2013 · Human Mutation
45. DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia
    You Li, Hisato Yagi, E. Onuoha, R. Damerla, Richard Francis, Y. Furutani, M. Tariq, S. King, G. Hendricks, Cheng Cui et al. · 2016 · PLoS Genetics
46. Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
    Zhimiao Lin, Shuo Li, Cheng Feng, Shang Yang, Huijun Wang, Danhui Ma, Jing Zhang, Mengting Gou, Dingfang Bu, Tengjiang Zhang et al. · 2016 · Nature Genetics
47. A human immunodeficiency syndrome caused by mutations in CARMIL2
    Tilmann Schober, Thomas Magg, Melanie Laschinger, Meino Rohlfs, Natália D. Linhares, Jacek Puchałka, Tanja Weißer, Karin Fehlner, Josef Mautner, Christoph Walz et al. · 2017 · Nature Communications
48. Spontaneous mutations in the single TTN gene represent high tumor mutation burden
    Ji‐Hye Oh, Se Jin Jang, Jihun Kim, Insuk Sohn, Ji‐Young Lee, Eun Jeong Cho, Sung‐Min Chun, Chang Ohk Sung · 2020 · npj Genomic Medicine
49. Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk
    Xiaoyan Jia, Bala Bharathi Burugula, Victor Chen, Rosemary M. Lemons, Sajini Jayakody, Mariam Maksutova, Jacob Otto Kitzman · 2020 · The American Journal of Human Genetics
50. A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency
    Buchert, Rebecca, Tawamie, Hasan, Smith, Christopher, Uebe, Steffen, Innes, A. Micheil, Al Hallak, Bassam, Ekici, Arif B., Sticht, Heinrich, Schwarze, Bernd, Lamont, Ryan E. et al. · 2014 · The American Journal of Human Genetics
51. Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders
    Marta Codina‐Solà, Benjamín Rodríguez‐Santiago, Aïda Homs, Javier Santoyo‐López, Maria Rigau, Gemma Aznar Laín, Miguel Del Campo, Blanca Gener, Elisabeth Gabau, Maria Pilar Botella et al. · 2015 · Molecular Autism
52. Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects
    Matthew Gordon Sampson, Catherine C. Robertson, Sebastian Martini, Laura H. Mariani, Kevin V. Lemley, Christopher E. Gillies, Edgar A. Otto, Jeffrey B. Kopp, A. G. Randolph, Virginia Vega-Warner et al. · 2015 · Journal of the American Society of Nephrology
53. Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing
    Alan S. Ma, John Grigg, Gladys Ho, Ivan Prokudin, Elizabeth Farnsworth, Katherine J. Holman, Anson Cheng, Frank A. Billson, Frank Joseph Martin, Clare L. Fraser et al. · 2015 · Human Mutation
54. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
    Christopher T. Gordon, Shifeng Xue, Gökhan Yigit, Hicham Filali, Kelan Chen, Nadine Rosin, Koh-ichiro Yoshiura, Myriam Oufadem, Tamara J Beck, Ruth McGowan et al. · 2017 · Nature Genetics
55. Bioinformatics in translational drug discovery
    Sarah K. Wooller, Graeme Benstead-Hume, Xiangrong Chen, Yusuf Ali, Frances M. G. Pearl · 2017 · Bioscience Reports
56. Genomic effects of population collapse in a critically endangered ironwood tree Ostrya rehderiana
    Yongzhi Peter Yang, Tao Ma, Zefu Wang, Zhiqiang Lu, Ying Li, Chengxin Fu, Xiaoyong Chen, Mingshui Zhao, Matthew S. Olson, Jianquan Liu · 2018 · Nature Communications
57. High-Throughput Reclassification of SCN5A Variants
    Andrew Michael Glazer, Yuko Wada, Bian Li, Ayesha Muhammad, Olivia R. Kalash, Matthew J. O’Neill, Tiffany Shields, Lynn D. Hall, Laura L Short, Marcia A. Blair et al. · 2020 · The American Journal of Human Genetics
58. One gene, many neuropsychiatric disorders: lessons from Mendelian diseases
    Zhu, Xiaolin, Need, Anna C, Petrovski, Slavé, Goldstein, David B · 2014 · Nature Neuroscience
59. DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics
    Dimitre R. Simeonov, Xinjing Wang, Chen Wang, Yuri V. Sergeev, Monika B. Dolinska, Matthew Bower, Roxanne E. Fischer, David Winer, Genia Dubrovsky, Joan Z. Balog et al. · 2013 · Human Mutation
60. CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
    Saskia B. Wortmann, Szymon Ziętkiewicz, Maria Kousi, Radek Szklarczyk, Tobias B. Haack, Søren W. Gersting, Ania Carolina Muntau, Aleksandar Raković, G. Herma Renkema, Richard J. Rodenburg et al. · 2015 · The American Journal of Human Genetics
61. Mapping Rare and Common Causal Alleles for Complex Human Diseases
    Soumya Raychaudhuri · 2011 · Cell
62. 1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data
    Jie Huang, David Ellinghaus, André Franke, Bryan Howie, Yun Li · 2012 · European Journal of Human Genetics
63. Early-onset Crohn’s disease and autoimmunity associated with a variant in CTLA-4
    Sebastian Zeißig, Britt‐Sabina Petersen, Michal F. Tomczak, Espen Melum, Emilie Huc‐Claustre, Stephanie K. Dougan, Jon K. Laerdahl, Björn Stade, Michael Förster, Stefan Schreiber et al. · 2014 · Gut
64. Genome-wide association study identifies multiple susceptibility loci for glioma
    Ben Kinnersley, Marianne Labussière, Amy Holroyd, Anna Luisa Di Stefano, Peter Broderick, Jayaram Vijayakrishnan, Karima Mokhtari, Jean‐Yves Delattre, Konstantinos Gousias, Johannes Schramm et al. · 2015 · Nature Communications
65. Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration
    Vandana Shashi, Maria M. Magiera, Dennis Klein, Maha Saad Zaki, Kelly Schoch, Sabine Rudnik‐Schöneborn, Andrew M. Norman, Osório Lopes Abath Neto, Marina Dusl, Xidi Yuan et al. · 2018 · The EMBO Journal
66. Review: Precision medicine and driver mutations: Computational methods, functional assays and conformational principles for interpreting cancer drivers
    Ruth Nussinov, Hyunbum Jang, Chung‐Jung Tsai, Feixiong Cheng · 2019 · PLoS Computational Biology
67. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
    Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere et al. · 2020 · Genetics in Medicine
68. The genomic landscape of 85 advanced neuroendocrine neoplasms reveals subtype-heterogeneity and potential therapeutic targets
    Job van Riet, Harmen J.G. van de Werken, Edwin P. J. G. Cuppen, Ferry A.L.M. Eskens, Margot E. T. Tesselaar, Linde M. van Veenendaal, Heinz‐Josef Klümpen, Marcus Wouter Dercksen, Gerlof Dirk Valk, Martijn P. Lolkema et al. · 2021 · Nature Communications
69. A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions
    Chong, Rockie, Insigne, Kimberly D., Yao, David, Burghard, Christina P., Wang, Jeffrey, Hsiao, Yun-Hua E., Jones, Eric M., Goodman, Daniel B., Xiao, Xinshu, Kosuri, Sriram · 2019 · Molecular Cell
70. Genetic variation in the human cytochrome P450 supergene family
    Kohei Fujikura, Magnus Ingelman‐Sundberg, Volker Martin Lauschke · 2015 · Pharmacogenetics and Genomics
71. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study
    Matthis Synofzik, Katrien Smets, Martial Mallaret, Daniela Di Bella, Constanze Gallenmüller, Jonathan Baets, Martin Schulze, Stefania Magri, Elisa Sarto, Mona Mustafa et al. · 2016 · Brain
72. Exome Sequencing of African-American Prostate Cancer Reveals Loss-of-Function ERF Mutations
    Franklin W. Huang, Juan Miguel Mosquera, Andrea Garofalo, Coyin Oh, Maria B. Baco, Ali Amin‐Mansour, Bokang Rabasha, Samira Bahl, Stephanie Anne Mullane, Brian D. Robinson et al. · 2017 · Cancer Discovery
73. Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures
    Daniele Cassatella, Sasha Rose Howard, James S. Acierno, Cheng Xu, Georgios E. Papadakis, Federico Andrea Santoni, Andrew A. Dwyer, Sara Santini, Gerasimos P. Sykiotis, Caroline Chambion et al. · 2018 · European Journal of Endocrinology
74. Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance
    Kristien Peeters, Ivan Litvinenko, Bob Asselbergh, Le­onardo Almeida-Souza, Teodora Chamova, Thomas Geuens, Elke Ydens, M. Zimoń, Joy Irobi, Els De Vriendt et al. · 2013 · The American Journal of Human Genetics
75. NovelFOXF1Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
    Partha Sen, Yaping Yang, Colby Navarro, Iris A. L. Silva, Przemysław Szafrański, Katarzyna E. Kołodziejska, Avinash V. Dharmadhikari, Hasnaa R. Mostafa, Harry P. Kozakewich, Debra Lynn Kearney et al. · 2013 · Human Mutation
76. Melanesian Blond Hair Is Caused by an Amino Acid Change in TYRP1
    Eimear E. Kenny, Nicholas John Timpson, Martin Sikora, Muh‐Ching Yee, Andrés Moreno‐Estrada, Celeste S. Eng, Scott Huntsman, Esteban G. Burchard, Mark Stoneking, Carlos D. Bustamante et al. · 2012 · Science
77. Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder
    Rong Fu, Irène Ceballos-Picot, Rosa J. Torres, Laura E. Laróvere, Yasukazu Yamada, Khue Vu Nguyen, Madhuri Hegde, Jasper E. Visser, David J. Schretlen, William L. Nyhan et al. · 2013 · Brain
78. Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS
    Takuya Konno, Masayoshi Tada, Mari Tada, Akihide Koyama, Hiroaki Nozaki, Yasuo Harigaya, Jin Nishimiya, Akiko Matsunaga, Nobuaki Yoshikura, Kenji Ishihara et al. · 2013 · Neurology
79. Genome-wide association study using high-density single nucleotide polymorphism arrays and whole-genome sequences for clinical mastitis traits in dairy cattle
    Goutam Sahana, Bernt Guldbrandtsen, Bo Thomsen, Lars‐Erik Holm, F. Panitz, Rasmus Froberg Brøndum, Christian Bendixen, Mogens Sandø Lund · 2014 · Journal of Dairy Science
80. The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes
    Ayal B. Gussow, Slavé Petrovski, Quanli Wang, Andrew S. Allen, David B. Goldstein · 2016 · Genome biology
81. Phenotypic insights into ADCY5‐associated disease
    Florence Chang, Ana Westenberger, Russell Clive Dale, Martin J. Smith, Hardev Pall, Belén Pérez‐Dueñas, Padraic J. Grattan‐Smith, Robert Ouvrier, Neil Mahant, Bernadette C. Hanna et al. · 2016 · Movement Disorders
82. The Qatar genome: a population-specific tool for precision medicine in the Middle East
    Khalid A Fakhro, Michelle R Staudt, Monica Denise Ramstetter, Amal Robay, Joel A Malek, Ramin Badii, Ajayeb Al-Nabet Al-Marri, Charbel Abi Khalil, Alya Al-Shakaki, Omar Chidiac et al. · 2016 · Human Genome Variation
83. Protein–protein interactions: scoring schemes and binding affinity
    M. Michael Gromiha, Kumar Yugandhar, Sherlyn Jemimah · 2016 · Current Opinion in Structural Biology
84. Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies
    Wenjuan Zhang, S. Paige Taylor, Hayley A. Ennis, Kimberly N. Forlenza, Iván Durán, Bing Li, Jorge A. Ortiz Sanchez, Lisette Nevarez, Deborah A. Nickerson, Michael J. Bamshad et al. · 2017 · Human Mutation
85. The genetic landscape of the human solute carrier (SLC) transporter superfamily
    Lena Schaller, Volker Martin Lauschke · 2019 · Human Genetics
86. Novel hereditary angioedema linked with a heparan sulfate 3-O-sulfotransferase 6 gene mutation
    Konrad Bork, Karin Wulff, Britta S. Möhl, Lars Steinmüller‐Magin, Günther Witzke, Jochen Hardt, Peter Meinke · 2021 · Journal of Allergy and Clinical Immunology
87. Admixture’s impact on Brazilian population evolution and health
    Kelly Nunes, Marcos Araújo Castro e Silva, Maira Ribeiro Rodrigues, Renan Barbosa Lemes, Patricio Pezo, Lilian Kimura, Lucas Schenatto Sena, José Eduardo Krieger, Margareth Catoia Varela, Luiz Otávio Azevedo et al. · 2025 · Science
88. Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1
    Hande Koçak, Bari J. Ballew, Kamlesh Kumar Bisht, Rebecca Eggebeen, Belynda D. Hicks, Shalabh Suman, Adri O’Neil, Neelam Giri, NCI DCEG Cancer Sequencing Working Group, Ivan P. Maillard et al. · 2014 · Genes & Development
89. Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “ de novo ” SCN1A Mutations in Children with Dravet Syndrome
    Xiaojing Xu, Xiaoxu Yang, Qixi Wu, Aijie Liu, Xiaoling Yang, Adam Yongxin Ye, August Yue Huang, Jiarui Li, Meng Wang, Zhe Yu et al. · 2015 · Human Mutation
90. Simultaneous DNA and RNA Mapping of Somatic Mitochondrial Mutations across Diverse Human Cancers
    James Bruce Stewart, Babak Alaei-Mahabadi, Radhakrishnan Sabarinathan, Tore Samuelsson, Jan Gorodkin, Claes M. Gustafsson, Erik Larsson · 2015 · PLoS Genetics
91. High prevalence of genetic variants previously associated with LQT syndrome in new exome data
    Lena Refsgaard, Anders Gaarsdal Holst, Golnaz Sadjadieh, Stig Haunsø, Jonas Bille Nielsen, MORTEN SALLING OLESEN · 2012 · European Journal of Human Genetics
92. Metastatic tumor evolution and organoid modeling implicate TGFBR2as a cancer driver in diffuse gastric cancer
    Lincoln D. Nadauld, Sarah Garcia, Georges Natsoulis, John Bell, Laura K. Miotke, Erik S. Hopmans, Hua Xu, Reetesh K. Pai, Curt Palm, John F. Regan et al. · 2014 · Genome biology
93. TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
    Jason O'Rawe, Yiyang Wu, Max Johannes Dörfel, Alan F. Rope, Ping Yee Billie Au, Jillian S. Parboosingh, Sungjin Moon, Maria Kousi, Konstantina Kosma, Christopher Smith et al. · 2015 · The American Journal of Human Genetics
94. CADmutations and uridine-responsive epileptic encephalopathy
    Johannes Koch, Johannes Adalbert Mayr, Bader Alhaddad, Christian Rauscher, Jörgen Bierau, Réka Kovács-Nagy, Karlien L. M. Coene, Ingrid Bader, Monika Holzhacker, Holger Prokisch et al. · 2016 · Brain
95. Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains
    Wei Wei, Michael John Keogh, Ian Wilson, Jonathan M Coxhead, Sarah Ryan, Sara J. Rollinson, Helen R Griffin, Marzena Kurzawa‐Akanbi, Mauro Santibanez‐Koref, Kevin Talbot et al. · 2017 · Acta Neuropathologica Communications
96. Genome-wide association study identifies multiple risk loci for renal cell carcinoma
    Ghislaine Scélo, Mark P. Purdue, Kevin M. Brown, Mattias Johansson, Zhaoming Wang, Jeanette E. Eckel‐Passow, Yuanqing Ye, Jonathan N. Hofmann, Jiyeon Choi, Matthieu Foll et al. · 2017 · Nature Communications
97. Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities.
    Chiara Di Resta, Silvia Galbiati, Paola Carrera, Maurizio Ferrari · 2018 · Europe PMC (PubMed Central)
98. Integrated multi-omics profiling to dissect the spatiotemporal evolution of metastatic hepatocellular carcinoma
    Yun‐Fan Sun, Pin Wu, Zefan Zhang, Zejian Wang, Kaiqian Zhou, Minfang Song, Yuan Ji, Fenglin Zang, Limu Lou, Keqiang Rao et al. · 2023 · Cancer Cell
99. Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma
    David H. Gutmann, Michael D. McLellan, Ibrahim Hussain, John W. Wallis, Lucinda Fulton, Robert S. Fulton, Vincent J. Magrini, Ryan Demeter, Todd Wylie, Cyriac Kandoth et al. · 2012 · Genome Research
100. Recessive mutations in <i>VPS13D</i> cause childhood onset movement disorders
     Gauthier, Julie, Meijer, Inge A., Lessel, Davor, Mencacci, Niccolò E., Krainc, Dimitri, Hempel, Maja, Tsiakas, Konstantinos, Prokisch, Holger, Rossignol, Elsa, Helm, Margaret H. et al. · 2018 · Annals of Neurology