 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 | 9 | 10 | | 2018 | 0 | 9 | 9 | | 2019 | 2 | 4 | 6 | | 2020 | 0 | 9 | 9 | | 2021 | 0 | 12 | 12 | | 2022 | 0 | 4 | 4 |
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Below are the most recent publications written about "Phenotype" by people in Profiles.
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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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Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, Chioza BA, Rawlins LE, Wenger OK, Gunning AC, Pizzi S, Onesimo R, Zampino G, Barker E, Osawa N, Rodriguez MC, Neuhann TM, Zackai EH, Keena B, Capasso J, Levin AV, Bhoj E, Li D, Hakonarson H, Wentzensen IM, Jackson A, Chandler KE, Coban-Akdemir ZH, Posey JE, Banka S, Lupski JR, Sheppard SE, Tartaglia M, Triggs-Raine B, Crosby AH, Baple EL. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med. 2022 03; 24(3):631-644.
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Lansdon LA, Chen D, Rush ET, Engleman K, Zhang L, Saunders CJ, Oroszi G. A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome. Cold Spring Harb Mol Case Stud. 2021 10; 7(5).
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Sharma S, Repnikova E, Noel-MacDonnell JR, LePichon JB. Diagnostic yield of genetic testing in 324 infants with hypotonia. Clin Genet. 2021 12; 100(6):752-757.
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Ramsey LB, Gaedigk A. CYP2D6*9 and *41: Does the Activity Value Assigned to these Alleles Need to be Reduced to more Accurately Predict Phenotype? Clin Pharmacol Ther. 2022 06; 111(6):1208-1211.
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Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P, Rush E, Pitt GS, Au PYB, Shashi V. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 10; 23(10):1922-1932.
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