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 |
|---|
| 1996 | 0 | 2 | 2 | | 1997 | 0 | 1 | 1 | | 1998 | 1 | 4 | 5 | | 1999 | 0 | 5 | 5 | | 2000 | 0 | 2 | 2 | | 2001 | 0 | 1 | 1 | | 2002 | 0 | 4 | 4 | | 2003 | 0 | 4 | 4 | | 2004 | 0 | 10 | 10 | | 2005 | 1 | 3 | 4 | | 2006 | 0 | 6 | 6 | | 2007 | 0 | 6 | 6 | | 2008 | 1 | 10 | 11 | | 2009 | 0 | 4 | 4 | | 2010 | 0 | 15 | 15 | | 2011 | 0 | 11 | 11 | | 2012 | 0 | 9 | 9 | | 2013 | 1 | 17 | 18 | | 2014 | 0 | 9 | 9 | | 2015 | 0 | 9 | 9 | | 2016 | 2 | 9 | 11 | | 2017 | 2 | 12 | 14 | | 2018 | 2 | 10 | 12 | | 2019 | 2 | 11 | 13 | | 2020 | 2 | 15 | 17 | | 2021 | 0 | 21 | 21 | | 2022 | 0 | 10 | 10 | | 2023 | 0 | 8 | 8 | | 2024 | 4 | 14 | 18 | | 2025 | 0 | 6 | 6 |
To return to the timeline, click here.
Below are the most recent publications written about "Phenotype" by people in Profiles.
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Eadon MT, Hein DW, Andersen MA, Chapman AB, Cooper-DeHoff RM, Desta Z, Duarte JD, Elchynski AL, Gaedigk A, Karol SE, Limdi NA, Lteif C, Sosinski L, Zubiaur P, Whirl-Carrillo M, Klein TE, Caudle KE, Donnelly RS, Ag?ndez JAG. Clinical Pharmacogenetics Implementation Consortium Guideline for NAT2 Genotype and Hydralazine Therapy. Clin Pharmacol Ther. 2025 Dec; 118(6):1430-1436.
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Watts JL, Willeke L, Stottmann RW. Mouse variants in Taf1c result in reduced survival to birth. Dev Biol. 2025 Dec; 528:143-151.
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Vandriel SM, Li LT, She H, Wang JS, Loomes KM, Piccoli DA, Jankowska I, Czubkowski P, Gliwicz-Miedzinska D, D'Antiga L, Nicastro E, Lacaille F, Debray D, Sokal ?M, Demaret T, Fawaz RL, Nastasio S, Kim KM, Oh SH, Fischler B, Arnell H, Larson-Nath C, Hardikar W, Shankar S, Sundaram SS, Chaidez A, Bulut P, Calvo PL, Kasahara M, Blondet N, Lurz E, Kavallar AM, Gonzales EM, Jacquemin E, Bouligand J, Ebel NH, Feinstein JA, Siew SM, Stormon MO, Karpen SJ, Romero R, Jensen MK, Jaramillo C, Squires JE, Bedoyan SM, Kelly DA, Hartley J, Verkade HJ, Lee WS, Lertudomphonwanit C, Fischer RT, Lin HC, Rock N, Mozer-Glassberg Y, Roberts AJ, Evans HM, Karnsakul W, Nebbia G, Wolters VM, Valentino PL, Bernabeu JQ, Aqul AA, Arikan C, Tamara ML, Busoms CM, Sandahl TD, Indolfi G, Zizzo AN, Zellos A, Quiros-Tejeira RE, Santos-Silva E, Schwarz KB, Brecelj J, Sanchez MC, Cavalieri ML, Tzivinikos C, Wiecek S, Eshun J, Kerkar N, Mujawar Q, ?nal Z, Gon?alves C, Garcia J, Alam S, Jimenez-Rivera C, Bujanda L, Thompson RJ, Hansen BE, Spinner NB, Gilbert MA, Kamath BM. Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines. Liver Int. 2025 Sep; 45(9):e70251.
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Mattioli F, Fri?riksd?ttir R, Hebert A, Bassani S, Ibrahim N, Naz S, Chrast J, Pailler-Pradeau C, Oddsson ?, Sulem P, Halldorsson GH, Melsted P, Gu?bjartsson DF, Palombo F, Pippucci T, Nouri N, Seri M, Farrow EG, Saunders CJ, Guex N, Ansar M, Stefansson K, Reymond A. Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies. Genome Med. 2025 Apr 14; 17(1):38.
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Means JC, Martinez-Bengochea AL, Louiselle DA, Nemechek JM, Perry JM, Farrow EG, Pastinen T, Younger ST. Rapid and scalable personalized ASO screening in patient-derived organoids. Nature. 2025 Feb; 638(8049):237-243.
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Tucker MH, Kalamvoki M, Tilak K, Raje N, Sampath V. The immunogenetic basis of severe herpes simplex infections in neonates and children: a review. Pediatr Res. 2025 Mar; 97(4):1370-1380.
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Pehlivan D, Bengtsson JD, Bajikar SS, Grochowski CM, Lun MY, Gandhi M, Jolly A, Trostle AJ, Harris HK, Suter B, Aras S, Ramocki MB, Du H, Mehaffey MG, Park K, Wilkey E, Karakas C, Eisfeldt JJ, Pettersson M, Liu L, Shinawi MS, Kimonis VE, Wiszniewski W, Mckenzie K, Roser T, Vianna-Morgante AM, Cornier AS, Abdelmoity A, Hwang JP, Jhangiani SN, Muzny DM, Mitani T, Muramatsu K, Nabatame S, Glaze DG, Fatih JM, Gibbs RA, Liu Z, Lindstrand A, Sedlazeck FJ, Lupski JR, Zoghbi HY, Carvalho CMB. Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Med. 2024 Dec 18; 16(1):146.
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Sablik M, Sannier A, Raynaud M, Goutaudier V, Divard G, Astor BC, Weng P, Smith J, Garro R, Warady BA, Zahr RS, Twombley K, Dharnidharka VR, Dandamudi RS, Fila M, Huang E, Sellier-Leclerc AL, T?nshoff B, Rabant M, Verine J, Del Bello A, Berney T, Boyer O, Catar RA, Danger R, Giral M, Yoo D, Girardin FR, Alsadi A, Gourraud PA, Morelon E, Le Quintrec M, Try M, Villard J, Zhong W, Bestard O, Budde K, Chauveau B, Couzi L, Brouard S, Hogan J, Legendre C, Anglicheau D, Aubert O, Kamar N, Lefaucheur C, Loupy A. Microvascular Inflammation of Kidney Allografts and Clinical Outcomes. N Engl J Med. 2025 Feb 20; 392(8):763-776.
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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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Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, Zaki MS, Suri M, Dominguez R, Elbendary HM, Alavi S, Abdel-Hamid MS, Morsy H, Mau-Them FT, Nizon M, Tesner P, Ryba L, Zafar F, Rana N, Saadi NW, Firoozfar Z, Gencpinar P, Unay B, Ustun C, Bruel AL, Coubes C, Stefanich J, Sezer O, Agolini E, Novelli A, Vasco G, Lettori D, Milh M, Villard L, Zeidler S, Opperman H, Strehlow V, Issa MY, El Khassab H, Chand P, Ibrahim S, Rashidi-Nezhad A, Miryounesi M, Larki P, Morrison J, Cristian I, Thiffault I, Bertsch NL, Noh GJ, Pappas J, Moran E, Marinakis NM, Traeger-Synodinos J, Hosseini S, Abbaszadegan MR, Caumes R, Vissers LELM, Neshatdoust M, Montazer Zohour M, El Fahime E, Canavati C, Kamal L, Kanaan M, Askander O, Voinova V, Levchenko O, Haider S, Halbach SS, Elias Maia R, Mansoor S, Jain V, Tawde S, Challa VSR, Gowda VK, Srinivasan VM, Victor LA, Pinero-Banos B, Hague J, ElAwady HA, Maria de Miranda Henriques-Souza A, Cheema HA, Anjum MN, Idkaidak S, Alqarajeh F, Atawneh O, Mor-Shaked H, Harel T, Zifarelli G, Bauer P, Kok F, Kitajima JP, Monteiro F, Josahkian J, Lesca G, Chatron N, Ville D, Murphy D, Neul JL, Mullegama SV, Begtrup A, Herman I, Mitani T, Posey JE, Tay CG, Javed I, Carr L, Kanani F, Beecroft F, Hane L, Abdelkreem E, Macek M, Bispo L, Elmaksoud MA, Hashemi-Gorji F, Pehlivan D, Amor DJ, Jamra RA, Chung WK, Ghayoor Karimiani E, Campeau PM, Alkuraya FS, Pagnamenta AT, Gleeson JG, Lupski JR, Striano P, Moreno-De-Luca A, Lafontaine DLJ, Houlden H, Maroofian R. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genet Med. 2025 Apr; 27(4):101251.
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