Caroline F Wright, David R FitzPatrick, Helen V Firth. Nat Rev Genet 2018
Times Cited: 118
Times Cited: 118
Times Cited
Times Co-cited
Similarity
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
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Analysis of protein-coding genetic variation in 60,706 humans.
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Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
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A global reference for human genetic variation.
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Caroline F Wright, Tomas W Fitzgerald, Wendy D Jones, Stephen Clayton, Jeremy F McRae, Margriet van Kogelenberg, Daniel A King, Kirsty Ambridge, Daniel M Barrett, Tanya Bayzetinova,[...]. Lancet 2015
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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Anath C Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S Reuter, S Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam,[...]. Genet Med 2018
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GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Nara Sobreira, François Schiettecatte, David Valle, Ada Hamosh. Hum Mutat 2015
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Clinical exome sequencing for genetic identification of rare Mendelian disorders.
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A method and server for predicting damaging missense mutations.
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Genome sequencing identifies major causes of severe intellectual disability.
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Christian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, Maartje van de Vorst, Bregje W M van Bon, Marjolein H Willemsen, Michael Kwint, Irene M Janssen, Alexander Hoischen, Annette Schenck,[...]. Nature 2014
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Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
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The 100 000 Genomes Project: bringing whole genome sequencing to the NHS.
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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
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A general framework for estimating the relative pathogenicity of human genetic variants.
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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
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MutationTaster2: mutation prediction for the deep-sequencing age.
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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
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8
ClinVar: improving access to variant interpretations and supporting evidence.
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A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
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Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing.
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A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
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Exome Sequencing and the Management of Neurometabolic Disorders.
Maja Tarailo-Graovac, Casper Shyr, Colin J Ross, Gabriella A Horvath, Ramona Salvarinova, Xin C Ye, Lin-Hua Zhang, Amit P Bhavsar, Jessica J Y Lee, Britt I Drögemöller,[...]. N Engl J Med 2016
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The Human Phenotype Ontology in 2017.
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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
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Molecular findings among patients referred for clinical whole-exome sequencing.
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Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Rupendra Shrestha, Belinda Chong, Dean Phelan, Gemma R Brett, Emma Creed,[...]. JAMA Pediatr 2017
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Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.
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Sophie Nambot, Julien Thevenon, Paul Kuentz, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Anne-Laure Mosca-Boidron, Alice Masurel-Paulet, Daphné Lehalle, Nolwenn Jean-Marçais,[...]. Genet Med 2018
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Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.
Lauge Farnaes, Amber Hildreth, Nathaly M Sweeney, Michelle M Clark, Shimul Chowdhury, Shareef Nahas, Julie A Cakici, Wendy Benson, Robert H Kaplan, Richard Kronick,[...]. NPJ Genom Med 2018
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OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.
Joanna S Amberger, Carol A Bocchini, François Schiettecatte, Alan F Scott, Ada Hamosh. Nucleic Acids Res 2015
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Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.
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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
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ClinVar: public archive of interpretations of clinically relevant variants.
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The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
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The Matchmaker Exchange: a platform for rare disease gene discovery.
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REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
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Clinical application of whole-exome sequencing across clinical indications.
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Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
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The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.
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Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.
Stéphanie Nguengang Wakap, Deborah M Lambert, Annie Olry, Charlotte Rodwell, Charlotte Gueydan, Valérie Lanneau, Daniel Murphy, Yann Le Cam, Ana Rath. Eur J Hum Genet 2020
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The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.
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De novo mutations in regulatory elements in neurodevelopmental disorders.
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Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes.
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An integrative approach to predicting the functional effects of non-coding and coding sequence variation.
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A spectral approach integrating functional genomic annotations for coding and noncoding variants.
Iuliana Ionita-Laza, Kenneth McCallum, Bin Xu, Joseph D Buxbaum. Nat Genet 2016
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Exome sequencing as a tool for Mendelian disease gene discovery.
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5
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.