Adrián Mosquera Orgueira, Miguel Cid López, Andrés Peleteiro Raíndo, José Ángel Díaz Arias, Beatriz Antelo Rodríguez, Laura Bao Pérez, Natalia Alonso Vence, Ángeles Bendaña López, Aitor Abuin Blanco, Paula Melero Valentín, Roi Ferreiro Ferro, Carlos Aliste Santos, Máximo Francisco Fraga Rodríguez, Marta Sonia González Pérez, Manuel Mateo Pérez Encinas, José Luis Bello López. Cancers (Basel) 2021
Times Cited: 4
Times Cited: 4
Times Cited
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A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
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Rare variant contribution to human disease in 281,104 UK Biobank exomes.
Quanli Wang, Ryan S Dhindsa, Keren Carss, Andrew R Harper, Abhishek Nag, Ioanna Tachmazidou, Dimitrios Vitsios, Sri V V Deevi, Alex Mackay, Daniel Muthas,[...]. Nature 2021
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SIFT web server: predicting effects of amino acid substitutions on proteins.
Ngak-Leng Sim, Prateek Kumar, Jing Hu, Steven Henikoff, Georg Schneider, Pauline C Ng. Nucleic Acids Res 2012
Ngak-Leng Sim, Prateek Kumar, Jing Hu, Steven Henikoff, Georg Schneider, Pauline C Ng. Nucleic Acids Res 2012
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ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.
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Rare germline variants in ATM are associated with chronic lymphocytic leukemia.
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Protein-altering germline mutations implicate novel genes related to lung cancer development.
Xuemei Ji, Semanti Mukherjee, Maria Teresa Landi, Yohan Bosse, Philippe Joubert, Dakai Zhu, Ivan Gorlov, Xiangjun Xiao, Younghun Han, Olga Gorlova,[...]. Nat Commun 2020
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Non-coding recurrent mutations in chronic lymphocytic leukaemia.
Xose S Puente, Silvia Beà, Rafael Valdés-Mas, Neus Villamor, Jesús Gutiérrez-Abril, José I Martín-Subero, Marta Munar, Carlota Rubio-Pérez, Pedro Jares, Marta Aymerich,[...]. Nature 2015
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Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia.
Adrien Georges, Juliette Albuisson, Takiy Berrandou, Délia Dupré, Aurélien Lorthioir, Valentina D'Escamard, Antonio F Di Narzo, Daniella Kadian-Dodov, Jeffrey W Olin, Ewa Warchol-Celinska,[...]. Cardiovasc Res 2021
Adrien Georges, Juliette Albuisson, Takiy Berrandou, Délia Dupré, Aurélien Lorthioir, Valentina D'Escamard, Antonio F Di Narzo, Daniella Kadian-Dodov, Jeffrey W Olin, Ewa Warchol-Celinska,[...]. Cardiovasc Res 2021
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Enhancements to the ADMIXTURE algorithm for individual ancestry estimation.
David H Alexander, Kenneth Lange. BMC Bioinformatics 2011
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Population Stratification in Genetic Association Studies.
Jacklyn N Hellwege, Jacob M Keaton, Ayush Giri, Xiaoyi Gao, Digna R Velez Edwards, Todd L Edwards. Curr Protoc Hum Genet 2017
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Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
Andrea Messina, Kristiina Pulli, Sara Santini, James Acierno, Johanna Känsäkoski, Daniele Cassatella, Cheng Xu, Filippo Casoni, Samuel A Malone, Gaetan Ternier,[...]. Am J Hum Genet 2020
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Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data.
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The mutational constraint spectrum quantified from variation in 141,456 humans.
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Evaluating drug targets through human loss-of-function genetic variation.
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Population stratification confounds genetic association studies among Latinos.
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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
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Insights into human genetic variation and population history from 929 diverse genomes.
Anders Bergström, Shane A McCarthy, Ruoyun Hui, Mohamed A Almarri, Qasim Ayub, Petr Danecek, Yuan Chen, Sabine Felkel, Pille Hallast, Jack Kamm,[...]. Science 2020
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Association between Paraoxonase-1 p.Q192R Polymorphism and Coronary Artery Disease susceptibility in the Colombian Population.
David Corredor-Orlandelli, Santiago Sambracos-Parrado, Santiago Mantilla-García, Josué Tovar-Tirado, Valentina Vega-Ramírez, Santiago David Mendoza-Ayús, Laura Catalina Peña, María Fernanda Leal, Juliana Rodríguez-Carrillo, Juanita León-Torres,[...]. Vasc Health Risk Manag 2021
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Comparison of Sociodemographic and Health-Related Characteristics of UK Biobank Participants With Those of the General Population.
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Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription.
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Cohort Profile: Estonian Biobank of the Estonian Genome Center, University of Tartu.
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Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.
Xihao Li, Zilin Li, Hufeng Zhou, Sheila M Gaynor, Yaowu Liu, Han Chen, Ryan Sun, Rounak Dey, Donna K Arnett, Stella Aslibekyan,[...]. Nat Genet 2020
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Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity.
Parsa Akbari, Ankit Gilani, Olukayode Sosina, Jack A Kosmicki, Lori Khrimian, Yi-Ya Fang, Trikaldarshi Persaud, Victor Garcia, Dylan Sun, Alexander Li,[...]. Science 2021
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Hidden concerns of sharing research data by low/middle-income country scientists.
Louise Bezuidenhout, Ereck Chakauya. Glob Bioeth 2018
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Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients.
Luke Hebert, Paul Hillman, Craig Baker, Michael Brown, Allison Ashley-Koch, James E Hixson, Alanna C Morrison, Hope Northrup, Kit Sing Au. PLoS One 2020
Luke Hebert, Paul Hillman, Craig Baker, Michael Brown, Allison Ashley-Koch, James E Hixson, Alanna C Morrison, Hope Northrup, Kit Sing Au. PLoS One 2020
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Million Veteran Program: A mega-biobank to study genetic influences on health and disease.
John Michael Gaziano, John Concato, Mary Brophy, Louis Fiore, Saiju Pyarajan, James Breeling, Stacey Whitbourne, Jennifer Deen, Colleen Shannon, Donald Humphries,[...]. J Clin Epidemiol 2016
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Rare-variant collapsing analyses for complex traits: guidelines and applications.
Gundula Povysil, Slavé Petrovski, Joseph Hostyk, Vimla Aggarwal, Andrew S Allen, David B Goldstein. Nat Rev Genet 2019
Gundula Povysil, Slavé Petrovski, Joseph Hostyk, Vimla Aggarwal, Andrew S Allen, David B Goldstein. Nat Rev Genet 2019
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Indicators of mental disorders in UK Biobank-A comparison of approaches.
Katrina A S Davis, Breda Cullen, Mark Adams, Anamaria Brailean, Gerome Breen, Jonathan R I Coleman, Alexandru Dregan, Héléna A Gaspar, Christopher Hübel, William Lee,[...]. Int J Methods Psychiatr Res 2019
Katrina A S Davis, Breda Cullen, Mark Adams, Anamaria Brailean, Gerome Breen, Jonathan R I Coleman, Alexandru Dregan, Héléna A Gaspar, Christopher Hübel, William Lee,[...]. Int J Methods Psychiatr Res 2019
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Bayesian model comparison for rare-variant association studies.
Guhan Ram Venkataraman, Christopher DeBoever, Yosuke Tanigawa, Matthew Aguirre, Alexander G Ioannidis, Hakhamanesh Mostafavi, Chris C A Spencer, Timothy Poterba, Carlos D Bustamante, Mark J Daly,[...]. Am J Hum Genet 2021
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CSVS, a crowdsourcing database of the Spanish population genetic variability.
María Peña-Chilet, Gema Roldán, Javier Perez-Florido, Francisco M Ortuño, Rosario Carmona, Virginia Aquino, Daniel Lopez-Lopez, Carlos Loucera, Jose L Fernandez-Rueda, Asunción Gallego,[...]. Nucleic Acids Res 2021
María Peña-Chilet, Gema Roldán, Javier Perez-Florido, Francisco M Ortuño, Rosario Carmona, Virginia Aquino, Daniel Lopez-Lopez, Carlos Loucera, Jose L Fernandez-Rueda, Asunción Gallego,[...]. Nucleic Acids Res 2021
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RFMix: a discriminative modeling approach for rapid and robust local-ancestry inference.
Brian K Maples, Simon Gravel, Eimear E Kenny, Carlos D Bustamante. Am J Hum Genet 2013
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Statistical power and significance testing in large-scale genetic studies.
Pak C Sham, Shaun M Purcell. Nat Rev Genet 2014
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Second-generation PLINK: rising to the challenge of larger and richer datasets.
Christopher C Chang, Carson C Chow, Laurent Cam Tellier, Shashaank Vattikuti, Shaun M Purcell, James J Lee. Gigascience 2015
Christopher C Chang, Carson C Chow, Laurent Cam Tellier, Shashaank Vattikuti, Shaun M Purcell, James J Lee. Gigascience 2015
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jMorp updates in 2020: large enhancement of multi-omics data resources on the general Japanese population.
Shu Tadaka, Eiji Hishinuma, Shohei Komaki, Ikuko N Motoike, Junko Kawashima, Daisuke Saigusa, Jin Inoue, Jun Takayama, Yasunobu Okamura, Yuichi Aoki,[...]. Nucleic Acids Res 2021
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Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank.
Joseph D Szustakowski, Suganthi Balasubramanian, Erika Kvikstad, Shareef Khalid, Paola G Bronson, Ariella Sasson, Emily Wong, Daren Liu, J Wade Davis, Carolina Haefliger,[...]. Nat Genet 2021
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GenoPheno: cataloging large-scale phenotypic and next-generation sequencing data within human datasets.
Alba Gutiérrez-Sacristán, Carlos De Niz, Cartik Kothari, Sek Won Kong, Kenneth D Mandl, Paul Avillach. Brief Bioinform 2021
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Summix: A method for detecting and adjusting for population structure in genetic summary data.
Ian S Arriaga-MacKenzie, Gregory Matesi, Samuel Chen, Alexandria Ronco, Katie M Marker, Jordan R Hall, Ryan Scherenberg, Mobin Khajeh-Sharafabadi, Yinfei Wu, Christopher R Gignoux,[...]. Am J Hum Genet 2021
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Gene Expression Analysis in Patients with Cocaine-Induced Midline Destructive Lesions.
Matteo Trimarchi, Giacomo Bertazzoni, Alessandro Vinciguerra, Celia Pardini, Fabio Simeoni, Davide Cittaro, Mario Bussi, Dejan Lazarevic. Medicina (Kaunas) 2021
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Overvaluing individual consent ignores risks to tribal participants.
Krystal S Tsosie, Joseph M Yracheta, Donna Dickenson. Nat Rev Genet 2019
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Enrichment of damaging missense variants in genes related with axonal guidance signalling in sporadic Meniere's disease.
Alvaro Gallego-Martinez, Teresa Requena, Pablo Roman-Naranjo, Patrick May, Jose A Lopez-Escamez. J Med Genet 2020
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Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space.
Michael C Schatz, Anthony A Philippakis, Enis Afgan, Eric Banks, Vincent J Carey, Robert J Carroll, Alessandro Culotti, Kyle Ellrott, Jeremy Goecks, Robert L Grossman,[...]. Cell Genom 2022
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Sequencing-based genome-wide association studies reporting standards.
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An Icelandic example of the impact of population structure on association studies.
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Principal component analysis of genetic data.
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Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
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Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network.
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Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
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The NCBI dbGaP database of genotypes and phenotypes.
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ClinGen--the Clinical Genome Resource.
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.