 Phenotype
"Phenotype" 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.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
| Descriptor ID |
D010641
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| MeSH Number(s) |
G05.695
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Phenotype".
Below are MeSH descriptors whose meaning is more specific than "Phenotype".
This graph shows the total number of publications written about "Phenotype" by people in this website by year, and whether "Phenotype" 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 |
|---|
| 1995 | 0 | 1 | 1 | | 1996 | 0 | 1 | 1 | | 1997 | 0 | 1 | 1 | | 1998 | 1 | 4 | 5 | | 1999 | 0 | 6 | 6 | | 2000 | 0 | 2 | 2 | | 2002 | 0 | 3 | 3 | | 2003 | 0 | 3 | 3 | | 2004 | 0 | 9 | 9 | | 2005 | 1 | 2 | 3 | | 2006 | 0 | 3 | 3 | | 2007 | 0 | 6 | 6 | | 2008 | 1 | 10 | 11 | | 2009 | 0 | 4 | 4 | | 2010 | 0 | 16 | 16 | | 2011 | 0 | 10 | 10 | | 2012 | 0 | 7 | 7 | | 2013 | 0 | 15 | 15 | | 2014 | 0 | 8 | 8 | | 2015 | 0 | 7 | 7 | | 2016 | 2 | 8 | 10 | | 2017 | 2 | 9 | 11 | | 2018 | 0 | 8 | 8 | | 2019 | 2 | 7 | 9 | | 2020 | 1 | 11 | 12 | | 2021 | 0 | 13 | 13 | | 2022 | 0 | 7 | 7 | | 2023 | 0 | 6 | 6 | | 2024 | 3 | 7 | 10 |
To return to the timeline, click here.
Below are the most recent publications written about "Phenotype" by people in Profiles.
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Smail C, Ge B, Keever-Keigher MR, Schwendinger-Schreck C, Cheung WA, Johnston JJ, Barrett C, Feldman K, Cohen ASA, Farrow EG, Thiffault I, Grundberg E, Pastinen T. Complex trait associations in rare diseases and impacts on Mendelian variant interpretation. Nat Commun. 2024 Sep 18; 15(1):8196.
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Langlois AWR, Chenoweth MJ, Twesigomwe D, Scantamburlo G, Whirl-Carrillo M, Sangkuhl K, Klein TE, Nofziger C, Tyndale RF, Gaedigk A. PharmVar GeneFocus: CYP2A6. Clin Pharmacol Ther. 2024 Oct; 116(4):948-962.
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Alstrup M, Cesca F, Krawczun-Rygmaczewska A, L?pez-Men?ndez C, Pose-Utrilla J, Castberg FC, Bjerager MO, Finnila C, Kruer MC, Bakhtiari S, Padilla-Lopez S, Manwaring L, Keren B, Afenjar A, Galatolo D, Scalise R, Santorelli FM, Shillington A, Vezain M, Martinovic J, Stevens C, Gowda VK, Srinivasan VM, Thiffault I, Pastinen T, Baranano K, Lee A, Granadillo J, Glassford MR, Keegan CE, Matthews N, Saugier-Veber P, Iglesias T, ?stergaard E. Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases. Genet Med. 2024 Nov; 26(11):101219.
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Kobayashi ES, Lotan NS, Schejter YD, Makowski C, Kraus V, Ramchandar N, Meiner V, Thiffault I, Farrow E, Cakici J, Kingsmore S, Wagner M, Rieber N, Bainbridge M. Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes. J Pediatr. 2024 Nov; 274:114180.
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Prince EW, Apps JR, Jeang J, Chee K, Medlin S, Jackson EM, Dudley R, Limbrick D, Naftel R, Johnston J, Feldstein N, Prolo LM, Ginn K, Niazi T, Smith A, Kilburn L, Chern J, Leonard J, Lam S, Hersh DS, Gonzalez-Meljem JM, Amani V, Donson AM, Mitra SS, Bandopadhayay P, Martinez-Barbera JP, Hankinson TC. Unraveling the complexity of the senescence-associated secretory phenotype in adamantinomatous craniopharyngioma using multimodal machine learning analysis. Neuro Oncol. 2024 Jun 03; 26(6):1109-1123.
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Cohen S, Yerushalmy-Feler A, Rojas I, Phen C, Rudnick DA, Flahive CB, Erdman SH, Magen-Rimon R, Copova I, Attard T, Latchford A, Hyer W. Juvenile polyposis syndrome in children: The impact of SMAD4 and BMPR1A mutations on clinical phenotype and polyp burden. J Pediatr Gastroenterol Nutr. 2024 Jul; 79(1):161-167.
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Herbst C, Bothe V, Wegler M, Axer-Schaefer S, Audebert-Bellanger S, Gecz J, Cogne B, Feldman HB, Horn AHC, Hurst ACE, Kelly MA, Kruer MC, Kurolap A, Laquerriere A, Li M, Mark PR, Morawski M, Nizon M, Pastinen T, Polster T, Saugier-Veber P, SeSong J, Sticht H, Stieler JT, Thifffault I, van Eyk CL, Marcorelles P, Vezain-Mouchard M, Abou Jamra R, Oppermann H. Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly. Hum Genet. 2024 Mar; 143(3):455-469.
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Lee B, Nasanovsky L, Shen L, Maglinte DT, Pan Y, Gai X, Schmidt RJ, Raca G, Biegel JA, Roytman M, An P, Saunders CJ, Farrow EG, Shams S, Ji J. Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis. J Mol Diagn. 2024 May; 26(5):337-348.
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Baumel WT, Poweleit EA, Neptune Z, Schroeder HK, Ramsey LB, Mills J, Strawn JR. Letter to the Editor: The Impact of Adherence and CYP2C19 Phenotype on Escitalopram Exposure in Adolescents. J Child Adolesc Psychopharmacol. 2024 02; 34(1):67-69.
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Men X, Taylor ZL, Marshe VS, Blumberger DM, Karp JF, Kennedy JL, Lenze EJ, Reynolds CF, Stefan C, Mulsant BH, Ramsey LB, M?ller DJ. CYP2D6 Phenotype Influences Pharmacokinetic Parameters of Venlafaxine: Results from a Population Pharmacokinetic Model in Older Adults with Depression. Clin Pharmacol Ther. 2024 May; 115(5):1065-1074.
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