 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 |
|---|
| 1993 | 0 | 1 | 1 | | 1995 | 0 | 2 | 2 | | 1996 | 0 | 2 | 2 | | 1997 | 0 | 3 | 3 | | 1998 | 1 | 4 | 5 | | 1999 | 0 | 7 | 7 | | 2000 | 0 | 3 | 3 | | 2002 | 0 | 3 | 3 | | 2003 | 0 | 3 | 3 | | 2004 | 0 | 10 | 10 | | 2005 | 1 | 2 | 3 | | 2006 | 0 | 2 | 2 | | 2007 | 0 | 4 | 4 | | 2008 | 0 | 8 | 8 | | 2009 | 0 | 3 | 3 | | 2010 | 0 | 10 | 10 | | 2011 | 0 | 7 | 7 | | 2012 | 0 | 2 | 2 | | 2013 | 0 | 13 | 13 | | 2014 | 0 | 6 | 6 | | 2015 | 0 | 6 | 6 | | 2016 | 2 | 7 | 9 | | 2017 | 1 | 8 | 9 | | 2018 | 0 | 8 | 8 | | 2019 | 2 | 4 | 6 | | 2020 | 0 | 9 | 9 | | 2021 | 0 | 12 | 12 | | 2022 | 0 | 7 | 7 | | 2023 | 0 | 2 | 2 |
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Below are the most recent publications written about "Phenotype" by people in Profiles.
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Calame DG, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Torres RJ, Prior C, G?mez-Gonz?lez C, Biskup S, Lupski JR, Maric D, Holmgren M, Regier D, Yano ST. Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023 08 01; 146(8):3162-3171.
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Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, K?ry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ. Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. Am J Med Genet A. 2023 07; 191(7):1900-1910.
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Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Qu?lin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Uma?a LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. Am J Hum Genet. 2023 02 02; 110(2):215-227.
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Del Viso F, Zhou D, Thiffault I, Lawson C, Cross L, Jenkins J, Rush E, Saunders C. Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia. Am J Med Genet A. 2023 01; 191(1):259-264.
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Leeder JS, Gaedigk A, Wright KJ, Staggs VS, Soden SE, Lin YS, Pearce RE. A longitudinal study of cytochrome P450 2D6 (CYP2D6) activity during adolescence. Clin Transl Sci. 2022 Oct; 15(10):2514-2527.
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Cadieux-Dion M, Farrow E, Thiffault I, Cohen ASA, Welsh H, Bartik L, Schwager C, Engleman K, Zhou D, Zhang L, Repnikova E, Amudhavalli SM, Saunders CJ. Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series. Clin Genet. 2022 08; 102(2):136-141.
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Smail C, Ferraro NM, Hui Q, Durrant MG, Aguirre M, Tanigawa Y, Keever-Keigher MR, Rao AS, Justesen JM, Li X, Gloudemans MJ, Assimes TL, Kooperberg C, Reiner AP, Huang J, O'Donnell CJ, Sun YV, Rivas MA, Montgomery SB. Integration of rare expression outlier-associated variants improves polygenic risk prediction. Am J Hum Genet. 2022 06 02; 109(6):1055-1064.
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Kundu K, Tardaguila M, Mann AL, Watt S, Ponstingl H, Vasquez L, Von Schiller D, Morrell NW, Stegle O, Pastinen T, Sawcer SJ, Anderson CA, Walter K, Soranzo N. Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases. Nat Genet. 2022 03; 54(3):251-262.
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Tayeh MK, Gaedigk A, Goetz MP, Klein TE, Lyon E, McMillin GA, Rentas S, Shinawi M, Pratt VM, Scott SA. Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022 04; 24(4):759-768.
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Dinh JC, Boone EC, Staggs VS, Pearce RE, Wang WY, Gaedigk R, Leeder JS, Gaedigk A. The Impact of the CYP2D6 "Enhancer" Single Nucleotide Polymorphism on CYP2D6 Activity. Clin Pharmacol Ther. 2022 03; 111(3):646-654.
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