 Exome
"Exome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.
| Descriptor ID |
D059472
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| MeSH Number(s) |
G05.360.340.011
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Exome".
Below are MeSH descriptors whose meaning is more specific than "Exome".
This graph shows the total number of publications written about "Exome" by people in this website by year, and whether "Exome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2011 | 0 | 1 | 1 | | 2012 | 3 | 7 | 10 | | 2013 | 3 | 12 | 15 | | 2014 | 4 | 8 | 12 | | 2015 | 5 | 9 | 14 | | 2016 | 5 | 14 | 19 | | 2017 | 1 | 5 | 6 | | 2018 | 3 | 3 | 6 | | 2019 | 1 | 1 | 2 | | 2020 | 1 | 1 | 2 | | 2021 | 1 | 1 | 2 |
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Below are the most recent publications written about "Exome" by people in Profiles.
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Haverfield EV, Esplin ED, Aguilar SJ, Hatchell KE, Ormond KE, Hanson-Kahn A, Atwal PS, Macklin-Mantia S, Hines S, Sak CW, Tucker S, Bleyl SB, Hulick PJ, Gordon OK, Velsher L, Gu JYJ, Weissman SM, Kruisselbrink T, Abel C, Kettles M, Slavotinek A, Mendelsohn BA, Green RC, Aradhya S, Nussbaum RL. Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study. BMC Med. 2021 08 18; 19(1):199.
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Nabais Sá MJ, Olson AN, Yoon G, Nimmo GAM, Gomez CM, Willemsen MA, Millan F, Schneider A, Pfundt R, de Brouwer APM, Dinman JD, de Vries BBA. De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus. Hum Mol Genet. 2021 02 25; 29(24):3892-3899.
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Mochel F, Rastetter A, Ceulemans B, Platzer K, Yang S, Shinde DN, Helbig KL, Lopergolo D, Mari F, Renieri A, Benetti E, Canitano R, Waisfisz Q, Plomp AS, Huisman SA, Wilson GN, Cathey SS, Louie RJ, Gaudio DD, Waggoner D, Kacker S, Nugent KM, Roeder ER, Bruel AL, Thevenon J, Ehmke N, Horn D, Holtgrewe M, Kaiser FJ, Kamphausen SB, Abou Jamra R, Weckhuysen S, Dalle C, Depienne C. Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. Brain. 2020 12 01; 143(12):3564-3573.
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Schoch K, Tan QK, Stong N, Deak KL, McConkie-Rosell A, McDonald MT. Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses. Genet Med. 2020 07; 22(7):1269-1275.
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Wang S, Pitt JJ, Zheng Y, Yoshimatsu TF, Gao G, Sanni A, Oluwasola O, Ajani M, Fitzgerald D, Odetunde A, Khramtsova G, Hurley I, Popoola A, Falusi A, Ogundiran T, Obafunwa J, Ojengbede O, Ibrahim N, Barretina J, White KP, Huo D, Olopade OI. Germline variants and somatic mutation signatures of breast cancer across populations of African and European ancestry in the US and Nigeria. Int J Cancer. 2019 12 15; 145(12):3321-3333.
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Flannick J, Mercader JM, Fuchsberger C, Udler MS, Mahajan A, Wessel J, Teslovich TM, Caulkins L, Koesterer R, Barajas-Olmos F, Blackwell TW, Boerwinkle E, Brody JA, Centeno-Cruz F, Chen L, Chen S, Contreras-Cubas C, Córdova E, Correa A, Cortes M, DeFronzo RA, Dolan L, Drews KL, Elliott A, Floyd JS, Gabriel S, Garay-Sevilla ME, García-Ortiz H, Gross M, Han S, Heard-Costa NL, Jackson AU, Jørgensen ME, Kang HM, Kelsey M, Kim BJ, Koistinen HA, Kuusisto J, Leader JB, Linneberg A, Liu CT, Liu J, Lyssenko V, Manning AK, Marcketta A, Malacara-Hernandez JM, Martínez-Hernández A, Matsuo K, Mayer-Davis E, Mendoza-Caamal E, Mohlke KL, Morrison AC, Ndungu A, Ng MCY, O'Dushlaine C, Payne AJ, Pihoker C. Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. Nature. 2019 06; 570(7759):71-76.
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Watanabe Y, Bruellman RJ, Ebrhim RS, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE. Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid. 2019 02; 29(2):302-304.
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Pitt JJ, Riester M, Zheng Y, Yoshimatsu TF, Sanni A, Oluwasola O, Veloso A, Labrot E, Wang S, Odetunde A, Ademola A, Okedere B, Mahan S, Leary R, Macomber M, Ajani M, Johnson RS, Fitzgerald D, Grundstad AJ, Tuteja JH, Khramtsova G, Zhang J, Sveen E, Hwang B, Clayton W, Nkwodimmah C, Famooto B, Obasi E, Aderoju V, Oludara M, Omodele F, Akinyele O, Adeoye A, Ogundiran T, Babalola C, MacIsaac K, Popoola A, Morrissey MP, Chen LS, Wang J, Olopade CO, Falusi AG, Winckler W, Haase K, Van Loo P, Obafunwa J, Papoutsakis D, Ojengbede O, Weber B, Ibrahim N, White KP, Huo D, Olopade OI, Barretina J. Characterization of Nigerian breast cancer reveals prevalent homologous recombination deficiency and aggressive molecular features. Nat Commun. 2018 10 16; 9(1):4181.
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Esplin ED, Haverfield E, Yang S, Aradhya S, Nussbaum RL. Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine. Genet Med. 2019 05; 21(5):1250-1251.
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Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Warman-Chardon J, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S. Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genet Med. 2019 01; 21(1):195-206.
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