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ArticlesPeer ReviewedFull Text
Autophagy genes in biology and disease
Author / Creator:Yamamoto, Hayashi ; Zhang, Sidi ; Mizushima, Noboru
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2023-06, Vol.24 (6), p.382-400
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The genetics of obesity: from discovery to biology
Author / Creator:Loos, Ruth J. F. ; Yeo, Giles S. H.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2022-02, Vol.23 (2), p.120-133
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Disease variant prediction with deep generative models of evolutionary data
Author / Creator:Frazer, Jonathan ; Notin, Pascal ; Dias, Mafalda ; Gomez, Aidan ; Min, Joseph K. ; Brock, Kelly ; Gal, Yarin ; Marks, Debora S.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2021-11, Vol.599 (7883), p.91-95
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ArticlesPeer ReviewedFull Text
Benefits and limitations of genome-wide association studies
Author / Creator:Tam, Vivian ; Patel, Nikunj ; Turcotte, Michelle ; Bossé, Yohan ; Paré, Guillaume ; Meyre, David
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2019-08, Vol.20 (8), p.467-484
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ArticlesPeer ReviewedFull Text
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
Author / Creator:Comino-Méndez, Iñaki ; Gracia-Aznárez, Francisco J ; Schiavi, Francesca ; Landa, Iñigo ; Leandro-García, Luis J ; Letón, Rocío ; Honrado, Emiliano ; Ramos-Medina, Rocío ; Caronia, Daniela ; Pita, Guillermo ; Gómez-Graña, Álvaro ; de Cubas, Aguirre A ; Inglada-Pérez, Lucía ; Maliszewska, Agnieszka ; Taschin, Elisa ; Bobisse, Sara ; Pica, Giuseppe ; Loli, Paola ; Hernández-Lavado, Rafael ; Díaz, José A ; Gómez-Morales, Mercedes ; González-Neira, Anna ; Roncador, Giovanna ; Rodríguez-Antona, Cristina ; Benítez, Javier ; Mannelli, Massimo ; Opocher, Giuseppe ; Robledo, Mercedes ; Cascón, Alberto
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2011-07, Vol.43 (7), p.663-667
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ArticlesPeer ReviewedFull Text
Runs of homozygosity: windows into population history and trait architecture
Author / Creator:Ceballos, Francisco C. ; Joshi, Peter K. ; Clark, David W. ; Ramsay, Michèle ; Wilson, James F.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2018-04, Vol.19 (4), p.220-234
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ArticlesPeer ReviewedFull Text
Amyotrophic lateral sclerosis: translating genetic discoveries into therapies
Author / Creator:Akçimen, Fulya ; Lopez, Elia R. ; Landers, John E. ; Nath, Avindra ; Chiò, Adriano ; Chia, Ruth ; Traynor, Bryan J.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2023-09, Vol.24 (9), p.642-658
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ArticlesPeer ReviewedFull Text
Primary cilia as dynamic and diverse signalling hubs in development and disease
Author / Creator:Mill, Pleasantine ; Christensen, Søren T. ; Pedersen, Lotte B.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2023-07, Vol.24 (7), p.421-441
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ArticlesPeer ReviewedFull Text
Whole-genome sequencing of patients with rare diseases in a national health system
Author / Creator:Turro, Ernest ; Astle, William J. ; Megy, Karyn ; Gräf, Stefan ; Greene, Daniel ; Shamardina, Olga ; Allen, Hana Lango ; Sanchis-Juan, Alba ; Frontini, Mattia ; Thys, Chantal ; Stephens, Jonathan ; Mapeta, Rutendo ; Burren, Oliver S. ; Downes, Kate ; Haimel, Matthias ; Tuna, Salih ; Deevi, Sri V. V. ; Aitman, Timothy J. ; Bennett, David L. ; Calleja, Paul ; Carss, Keren ; Caulfield, Mark J. ; Chinnery, Patrick F. ; Dixon, Peter H. ; Gale, Daniel P. ; James, Roger ; Koziell, Ania ; Laffan, Michael A. ; Levine, Adam P. ; Maher, Eamonn R. ; Markus, Hugh S. ; Morales, Joannella ; Morrell, Nicholas W. ; Mumford, Andrew D. ; Ormondroyd, Elizabeth ; Rankin, Stuart ; Rendon, Augusto ; Richardson, Sylvia ; Roberts, Irene ; Roy, Noemi B. A. ; Saleem, Moin A. ; Smith, Kenneth G. C. ; Stark, Hannah ; Tan, Rhea Y. Y. ; Themistocleous, Andreas C. ; Thrasher, Adrian J. ; Watkins, Hugh ; Webster, Andrew R. ; Wilkins, Martin R. ; Williamson, Catherine ; Whitworth, James ; Humphray, Sean ; Bentley, David R. ; Kingston, Nathalie ; Walker, Neil ; Bradley, John R. ; Ashford, Sofie ; Penkett, Christopher J. ; Freson, Kathleen ; Stirrups, Kathleen E. ; Raymond, F. Lucy ; Ouwehand, Willem H.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2020-07, Vol.583 (7814), p.96-102
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ArticlesPeer ReviewedFull Text
Principles and methods for transferring polygenic risk scores across global populations
Author / Creator:Kachuri, Linda ; Chatterjee, Nilanjan ; Hirbo, Jibril ; Schaid, Daniel J. ; Martin, Iman ; Kullo, Iftikhar J. ; Kenny, Eimear E. ; Pasaniuc, Bogdan ; Witte, John S. ; Ge, Tian
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2024-01, Vol.25 (1), p.8-25
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ArticlesPeer ReviewedFull Text
A network-biology perspective of microRNA function and dysfunction in cancer
Author / Creator:Bracken, Cameron P. ; Scott, Hamish S. ; Goodall, Gregory J.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2016-12, Vol.17 (12), p.719-732
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Molecular mechanisms of environmental exposures and human disease
Author / Creator:Wu, Haotian ; Eckhardt, Christina M. ; Baccarelli, Andrea A.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2023-05, Vol.24 (5), p.332-344
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ArticlesPeer ReviewedFull Text
A census of human RNA-binding proteins
Author / Creator:Gerstberger, Stefanie ; Hafner, Markus ; Tuschl, Thomas
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2014-12, Vol.15 (12), p.829-845
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Epidemiology of the inherited cardiomyopathies
Author / Creator:McKenna, William J. ; Judge, Daniel P.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews cardiology, 2021-01, Vol.18 (1), p.22-36
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Structural variation in the 3D genome
Author / Creator:Spielmann, Malte ; Lupiáñez, Darío G. ; Mundlos, Stefan
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2018-07, Vol.19 (7), p.453-467
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ArticlesPeer ReviewedFull Text
Genetic studies in intellectual disability and related disorders
Author / Creator:Vissers, Lisenka E. L. M. ; Gilissen, Christian ; Veltman, Joris A.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2016-01, Vol.17 (1), p.9-18
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Mechanisms underlying structural variant formation in genomic disorders
Author / Creator:Carvalho, Claudia M. B. ; Lupski, James R.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2016-04, Vol.17 (4), p.224-238
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Tandem repeats mediating genetic plasticity in health and disease
Author / Creator:Hannan, Anthony J.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2018-05, Vol.19 (5), p.286-298
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
Author / Creator:Walsh, Roddy ; Thomson, Kate L. ; Ware, James S. ; Funke, Birgit H. ; Woodley, Jessica ; McGuire, Karen J. ; Mazzarotto, Francesco ; Blair, Edward ; Seller, Anneke ; Taylor, Jenny C. ; Minikel, Eric V. ; Exome Aggregation Consortium ; MacArthur, Daniel G. ; Farrall, Martin ; Cook, Stuart A. ; Watkins, Hugh
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2017-02, Vol.19 (2), p.192-203
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Comprehensive analysis of cancer-associated somatic mutations in class I HLA genes
Author / Creator:Shukla, Sachet A ; Rooney, Michael S ; Rajasagi, Mohini ; Tiao, Grace ; Dixon, Philip M ; Lawrence, Michael S ; Stevens, Jonathan ; Lane, William J ; Dellagatta, Jamie L ; Steelman, Scott ; Sougnez, Carrie ; Cibulskis, Kristian ; Kiezun, Adam ; Hacohen, Nir ; Brusic, Vladimir ; Wu, Catherine J ; Getz, Gad
Publisher:New York: Nature Publishing Group US
Journal title:Nature biotechnology, 2015-11, Vol.33 (11), p.1152-1158
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Showing 1 to 20 of 2,174 results

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Autophagy genes in biology and disease

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The genetics of obesity: from discovery to biology

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Disease variant prediction with deep generative models of evolutionary data

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Benefits and limitations of genome-wide association studies

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Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

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Runs of homozygosity: windows into population history and trait architecture

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Amyotrophic lateral sclerosis: translating genetic discoveries into therapies

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Primary cilia as dynamic and diverse signalling hubs in development and disease

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Whole-genome sequencing of patients with rare diseases in a national health system

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Principles and methods for transferring polygenic risk scores across global populations

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A network-biology perspective of microRNA function and dysfunction in cancer

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Molecular mechanisms of environmental exposures and human disease

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A census of human RNA-binding proteins

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Epidemiology of the inherited cardiomyopathies

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Structural variation in the 3D genome

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Genetic studies in intellectual disability and related disorders

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Mechanisms underlying structural variant formation in genomic disorders

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Tandem repeats mediating genetic plasticity in health and disease

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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

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Comprehensive analysis of cancer-associated somatic mutations in class I HLA genes

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