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Phenotypic Variation

MedGen UID:
324814
Concept ID:
C1837514
Finding
Synonyms: Phenotypic Variabilities; Phenotypic Variability; Phenotypic Variations; Variabilities, Phenotypic; Variability, Phenotypic; Variation, Phenotypic; Variations, Phenotypic

Professional guidelines

PubMed

Nishio H, Niba ETE, Saito T, Okamoto K, Takeshima Y, Awano H
Int J Mol Sci 2023 Jul 26;24(15) doi: 10.3390/ijms241511939. PMID: 37569314Free PMC Article
Tinker RJ, Lim AZ, Stefanetti RJ, McFarland R
Mol Diagn Ther 2021 Mar;25(2):181-206. Epub 2021 Mar 1 doi: 10.1007/s40291-020-00510-6. PMID: 33646563Free PMC Article
Kritharis A, Al-Samkari H, Kuter DJ
Haematologica 2018 Sep;103(9):1433-1443. Epub 2018 May 24 doi: 10.3324/haematol.2018.193003. PMID: 29794143Free PMC Article

Recent clinical studies

Etiology

Marya S, Tambe AD, Millner PA, Tsirikos AI
Bone Joint J 2022 Aug;104-B(8):915-921. doi: 10.1302/0301-620X.104B8.BJJ-2021-1638.R1. PMID: 35909373
Nair ATN, Wesolowska-Andersen A, Brorsson C, Rajendrakumar AL, Hapca S, Gan S, Dawed AY, Donnelly LA, McCrimmon R, Doney ASF, Palmer CNA, Mohan V, Anjana RM, Hattersley AT, Dennis JM, Pearson ER
Nat Med 2022 May;28(5):982-988. Epub 2022 May 9 doi: 10.1038/s41591-022-01790-7. PMID: 35534565
Nguyen TV, Damiani G, Orenstein LAV, Hamzavi I, Jemec GB
J Eur Acad Dermatol Venereol 2021 Jan;35(1):50-61. Epub 2020 Jul 16 doi: 10.1111/jdv.16677. PMID: 32460374
Choi SW, Mak TS, O'Reilly PF
Nat Protoc 2020 Sep;15(9):2759-2772. Epub 2020 Jul 24 doi: 10.1038/s41596-020-0353-1. PMID: 32709988Free PMC Article
Hallgrimsson B, Green RM, Katz DC, Fish JL, Bernier FP, Roseman CC, Young NM, Cheverud JM, Marcucio RS
Semin Cell Dev Biol 2019 Apr;88:67-79. Epub 2018 May 24 doi: 10.1016/j.semcdb.2018.05.019. PMID: 29782925Free PMC Article

Diagnosis

Nishio H, Niba ETE, Saito T, Okamoto K, Takeshima Y, Awano H
Int J Mol Sci 2023 Jul 26;24(15) doi: 10.3390/ijms241511939. PMID: 37569314Free PMC Article
Qiu S, Cai Y, Yao H, Lin C, Xie Y, Tang S, Zhang A
Signal Transduct Target Ther 2023 Mar 20;8(1):132. doi: 10.1038/s41392-023-01399-3. PMID: 36941259Free PMC Article
Marya S, Tambe AD, Millner PA, Tsirikos AI
Bone Joint J 2022 Aug;104-B(8):915-921. doi: 10.1302/0301-620X.104B8.BJJ-2021-1638.R1. PMID: 35909373
Kritharis A, Al-Samkari H, Kuter DJ
Haematologica 2018 Sep;103(9):1433-1443. Epub 2018 May 24 doi: 10.3324/haematol.2018.193003. PMID: 29794143Free PMC Article
Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT
Metabolism 2018 Jun;83:188-196. Epub 2018 Jan 31 doi: 10.1016/j.metabol.2018.01.025. PMID: 29409891

Therapy

Nair ATN, Wesolowska-Andersen A, Brorsson C, Rajendrakumar AL, Hapca S, Gan S, Dawed AY, Donnelly LA, McCrimmon R, Doney ASF, Palmer CNA, Mohan V, Anjana RM, Hattersley AT, Dennis JM, Pearson ER
Nat Med 2022 May;28(5):982-988. Epub 2022 May 9 doi: 10.1038/s41591-022-01790-7. PMID: 35534565
Tinker RJ, Lim AZ, Stefanetti RJ, McFarland R
Mol Diagn Ther 2021 Mar;25(2):181-206. Epub 2021 Mar 1 doi: 10.1007/s40291-020-00510-6. PMID: 33646563Free PMC Article
Doherty A, Smith-Byrne K, Ferreira T, Holmes MV, Holmes C, Pulit SL, Lindgren CM
Nat Commun 2018 Dec 10;9(1):5257. doi: 10.1038/s41467-018-07743-4. PMID: 30531941Free PMC Article
Kritharis A, Al-Samkari H, Kuter DJ
Haematologica 2018 Sep;103(9):1433-1443. Epub 2018 May 24 doi: 10.3324/haematol.2018.193003. PMID: 29794143Free PMC Article
Bonilla X, Parmentier L, King B, Bezrukov F, Kaya G, Zoete V, Seplyarskiy VB, Sharpe HJ, McKee T, Letourneau A, Ribaux PG, Popadin K, Basset-Seguin N, Ben Chaabene R, Santoni FA, Andrianova MA, Guipponi M, Garieri M, Verdan C, Grosdemange K, Sumara O, Eilers M, Aifantis I, Michielin O, de Sauvage FJ, Antonarakis SE, Nikolaev SI
Nat Genet 2016 Apr;48(4):398-406. Epub 2016 Mar 7 doi: 10.1038/ng.3525. PMID: 26950094

Prognosis

Qiu S, Cai Y, Yao H, Lin C, Xie Y, Tang S, Zhang A
Signal Transduct Target Ther 2023 Mar 20;8(1):132. doi: 10.1038/s41392-023-01399-3. PMID: 36941259Free PMC Article
Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU, Jiang Y, Raghavan S, Miao J, Arias JD, Graham SE, Mukamel RE, Spracklen CN, Yin X, Chen SH, Ferreira T, Highland HH, Ji Y, Karaderi T, Lin K, Lüll K, Malden DE, Medina-Gomez C, Machado M, Moore A, Rüeger S, Sim X, Vrieze S, Ahluwalia TS, Akiyama M, Allison MA, Alvarez M, Andersen MK, Ani A, Appadurai V, Arbeeva L, Bhaskar S, Bielak LF, Bollepalli S, Bonnycastle LL, Bork-Jensen J, Bradfield JP, Bradford Y, Braund PS, Brody JA, Burgdorf KS, Cade BE, Cai H, Cai Q, Campbell A, Cañadas-Garre M, Catamo E, Chai JF, Chai X, Chang LC, Chang YC, Chen CH, Chesi A, Choi SH, Chung RH, Cocca M, Concas MP, Couture C, Cuellar-Partida G, Danning R, Daw EW, Degenhard F, Delgado GE, Delitala A, Demirkan A, Deng X, Devineni P, Dietl A, Dimitriou M, Dimitrov L, Dorajoo R, Ekici AB, Engmann JE, Fairhurst-Hunter Z, Farmaki AE, Faul JD, Fernandez-Lopez JC, Forer L, Francescatto M, Freitag-Wolf S, Fuchsberger C, Galesloot TE, Gao Y, Gao Z, Geller F, Giannakopoulou O, Giulianini F, Gjesing AP, Goel A, Gordon SD, Gorski M, Grove J, Guo X, Gustafsson S, Haessler J, Hansen TF, Havulinna AS, Haworth SJ, He J, Heard-Costa N, Hebbar P, Hindy G, Ho YA, Hofer E, Holliday E, Horn K, Hornsby WE, Hottenga JJ, Huang H, Huang J, Huerta-Chagoya A, Huffman JE, Hung YJ, Huo S, Hwang MY, Iha H, Ikeda DD, Isono M, Jackson AU, Jäger S, Jansen IE, Johansson I, Jonas JB, Jonsson A, Jørgensen T, Kalafati IP, Kanai M, Kanoni S, Kårhus LL, Kasturiratne A, Katsuya T, Kawaguchi T, Kember RL, Kentistou KA, Kim HN, Kim YJ, Kleber ME, Knol MJ, Kurbasic A, Lauzon M, Le P, Lea R, Lee JY, Leonard HL, Li SA, Li X, Li X, Liang J, Lin H, Lin SY, Liu J, Liu X, Lo KS, Long J, Lores-Motta L, Luan J, Lyssenko V, Lyytikäinen LP, Mahajan A, Mamakou V, Mangino M, Manichaikul A, Marten J, Mattheisen M, Mavarani L, McDaid AF, Meidtner K, Melendez TL, Mercader JM, Milaneschi Y, Miller JE, Millwood IY, Mishra PP, Mitchell RE, Møllehave LT, Morgan A, Mucha S, Munz M, Nakatochi M, Nelson CP, Nethander M, Nho CW, Nielsen AA, Nolte IM, Nongmaithem SS, Noordam R, Ntalla I, Nutile T, Pandit A, Christofidou P, Pärna K, Pauper M, Petersen ERB, Petersen LV, Pitkänen N, Polašek O, Poveda A, Preuss MH, Pyarajan S, Raffield LM, Rakugi H, Ramirez J, Rasheed A, Raven D, Rayner NW, Riveros C, Rohde R, Ruggiero D, Ruotsalainen SE, Ryan KA, Sabater-Lleal M, Saxena R, Scholz M, Sendamarai A, Shen B, Shi J, Shin JH, Sidore C, Sitlani CM, Slieker RC, Smit RAJ, Smith AV, Smith JA, Smyth LJ, Southam L, Steinthorsdottir V, Sun L, Takeuchi F, Tallapragada DSP, Taylor KD, Tayo BO, Tcheandjieu C, Terzikhan N, Tesolin P, Teumer A, Theusch E, Thompson DJ, Thorleifsson G, Timmers PRHJ, Trompet S, Turman C, Vaccargiu S, van der Laan SW, van der Most PJ, van Klinken JB, van Setten J, Verma SS, Verweij N, Veturi Y, Wang CA, Wang C, Wang L, Wang Z, Warren HR, Bin Wei W, Wickremasinghe AR, Wielscher M, Wiggins KL, Winsvold BS, Wong A, Wu Y, Wuttke M, Xia R, Xie T, Yamamoto K, Yang J, Yao J, Young H, Yousri NA, Yu L, Zeng L, Zhang W, Zhang X, Zhao JH, Zhao W, Zhou W, Zimmermann ME, Zoledziewska M, Adair LS, Adams HHH, Aguilar-Salinas CA, Al-Mulla F, Arnett DK, Asselbergs FW, Åsvold BO, Attia J, Banas B, Bandinelli S, Bennett DA, Bergler T, Bharadwaj D, Biino G, Bisgaard H, Boerwinkle E, Böger CA, Bønnelykke K, Boomsma DI, Børglum AD, Borja JB, Bouchard C, Bowden DW, Brandslund I, Brumpton B, Buring JE, Caulfield MJ, Chambers JC, Chandak GR, Chanock SJ, Chaturvedi N, Chen YI, Chen Z, Cheng CY, Christophersen IE, Ciullo M, Cole JW, Collins FS, Cooper RS, Cruz M, Cucca F, Cupples LA, Cutler MJ, Damrauer SM, Dantoft TM, de Borst GJ, de Groot LCPGM, De Jager PL, de Kleijn DPV, Janaka de Silva H, Dedoussis GV, den Hollander AI, Du S, Easton DF, Elders PJM, Eliassen AH, Ellinor PT, Elmståhl S, Erdmann J, Evans MK, Fatkin D, Feenstra B, Feitosa MF, Ferrucci L, Ford I, Fornage M, Franke A, Franks PW, Freedman BI, Gasparini P, Gieger C, Girotto G, Goddard ME, Golightly YM, Gonzalez-Villalpando C, Gordon-Larsen P, Grallert H, Grant SFA, Grarup N, Griffiths L, Gudnason V, Haiman C, Hakonarson H, Hansen T, Hartman CA, Hattersley AT, Hayward C, Heckbert SR, Heng CK, Hengstenberg C, Hewitt AW, Hishigaki H, Hoyng CB, Huang PL, Huang W, Hunt SC, Hveem K, Hyppönen E, Iacono WG, Ichihara S, Ikram MA, Isasi CR, Jackson RD, Jarvelin MR, Jin ZB, Jöckel KH, Joshi PK, Jousilahti P, Jukema JW, Kähönen M, Kamatani Y, Kang KD, Kaprio J, Kardia SLR, Karpe F, Kato N, Kee F, Kessler T, Khera AV, Khor CC, Kiemeney LALM, Kim BJ, Kim EK, Kim HL, Kirchhof P, Kivimaki M, Koh WP, Koistinen HA, Kolovou GD, Kooner JS, Kooperberg C, Köttgen A, Kovacs P, Kraaijeveld A, Kraft P, Krauss RM, Kumari M, Kutalik Z, Laakso M, Lange LA, Langenberg C, Launer LJ, Le Marchand L, Lee H, Lee NR, Lehtimäki T, Li H, Li L, Lieb W, Lin X, Lind L, Linneberg A, Liu CT, Liu J, Loeffler M, London B, Lubitz SA, Lye SJ, Mackey DA, Mägi R, Magnusson PKE, Marcus GM, Vidal PM, Martin NG, März W, Matsuda F, McGarrah RW, McGue M, McKnight AJ, Medland SE, Mellström D, Metspalu A, Mitchell BD, Mitchell P, Mook-Kanamori DO, Morris AD, Mucci LA, Munroe PB, Nalls MA, Nazarian S, Nelson AE, Neville MJ, Newton-Cheh C, Nielsen CS, Nöthen MM, Ohlsson C, Oldehinkel AJ, Orozco L, Pahkala K, Pajukanta P, Palmer CNA, Parra EJ, Pattaro C, Pedersen O, Pennell CE, Penninx BWJH, Perusse L, Peters A, Peyser PA, Porteous DJ, Posthuma D, Power C, Pramstaller PP, Province MA, Qi Q, Qu J, Rader DJ, Raitakari OT, Ralhan S, Rallidis LS, Rao DC, Redline S, Reilly DF, Reiner AP, Rhee SY, Ridker PM, Rienstra M, Ripatti S, Ritchie MD, Roden DM, Rosendaal FR, Rotter JI, Rudan I, Rutters F, Sabanayagam C, Saleheen D, Salomaa V, Samani NJ, Sanghera DK, Sattar N, Schmidt B, Schmidt H, Schmidt R, Schulze MB, Schunkert H, Scott LJ, Scott RJ, Sever P, Shiroma EJ, Shoemaker MB, Shu XO, Simonsick EM, Sims M, Singh JR, Singleton AB, Sinner MF, Smith JG, Snieder H, Spector TD, Stampfer MJ, Stark KJ, Strachan DP, 't Hart LM, Tabara Y, Tang H, Tardif JC, Thanaraj TA, Timpson NJ, Tönjes A, Tremblay A, Tuomi T, Tuomilehto J, Tusié-Luna MT, Uitterlinden AG, van Dam RM, van der Harst P, Van der Velde N, van Duijn CM, van Schoor NM, Vitart V, Völker U, Vollenweider P, Völzke H, Wacher-Rodarte NH, Walker M, Wang YX, Wareham NJ, Watanabe RM, Watkins H, Weir DR, Werge TM, Widen E, Wilkens LR, Willemsen G, Willett WC, Wilson JF, Wong TY, Woo JT, Wright AF, Wu JY, Xu H, Yajnik CS, Yokota M, Yuan JM, Zeggini E, Zemel BS, Zheng W, Zhu X, Zmuda JM, Zonderman AB, Zwart JA; 23andMe Research Team; VA Million Veteran Program; DiscovEHR (DiscovEHR and MyCode Community Health Initiative); eMERGE (Electronic Medical Records and Genomics Network); Lifelines Cohort Study; PRACTICAL Consortium; Understanding Society Scientific Group, Chasman DI, Cho YS, Heid IM, McCarthy MI, Ng MCY, O'Donnell CJ, Rivadeneira F, Thorsteinsdottir U, Sun YV, Tai ES, Boehnke M, Deloukas P, Justice AE, Lindgren CM, Loos RJF, Mohlke KL, North KE, Stefansson K, Walters RG, Winkler TW, Young KL, Loh PR, Yang J, Esko T, Assimes TL, Auton A, Abecasis GR, Willer CJ, Locke AE, Berndt SI, Lettre G, Frayling TM, Okada Y, Wood AR, Visscher PM, Hirschhorn JN
Nature 2022 Oct;610(7933):704-712. Epub 2022 Oct 12 doi: 10.1038/s41586-022-05275-y. PMID: 36224396Free PMC Article
Marya S, Tambe AD, Millner PA, Tsirikos AI
Bone Joint J 2022 Aug;104-B(8):915-921. doi: 10.1302/0301-620X.104B8.BJJ-2021-1638.R1. PMID: 35909373
Bailey C, Black JRM, Reading JL, Litchfield K, Turajlic S, McGranahan N, Jamal-Hanjani M, Swanton C
Cancer Discov 2021 Apr;11(4):916-932. doi: 10.1158/2159-8290.CD-20-1559. PMID: 33811124Free PMC Article
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457

Clinical prediction guides

Qiu S, Cai Y, Yao H, Lin C, Xie Y, Tang S, Zhang A
Signal Transduct Target Ther 2023 Mar 20;8(1):132. doi: 10.1038/s41392-023-01399-3. PMID: 36941259Free PMC Article
Marya S, Tambe AD, Millner PA, Tsirikos AI
Bone Joint J 2022 Aug;104-B(8):915-921. doi: 10.1302/0301-620X.104B8.BJJ-2021-1638.R1. PMID: 35909373
Nair ATN, Wesolowska-Andersen A, Brorsson C, Rajendrakumar AL, Hapca S, Gan S, Dawed AY, Donnelly LA, McCrimmon R, Doney ASF, Palmer CNA, Mohan V, Anjana RM, Hattersley AT, Dennis JM, Pearson ER
Nat Med 2022 May;28(5):982-988. Epub 2022 May 9 doi: 10.1038/s41591-022-01790-7. PMID: 35534565
Choi SW, Mak TS, O'Reilly PF
Nat Protoc 2020 Sep;15(9):2759-2772. Epub 2020 Jul 24 doi: 10.1038/s41596-020-0353-1. PMID: 32709988Free PMC Article
Sternberg RJ
Dialogues Clin Neurosci 2012 Mar;14(1):19-27. doi: 10.31887/DCNS.2012.14.1/rsternberg. PMID: 22577301Free PMC Article

Recent systematic reviews

MacIver CL, Tax CMW, Jones DK, Peall KJ
Eur J Neurol 2022 Nov;29(11):3418-3448. Epub 2022 Jul 22 doi: 10.1111/ene.15483. PMID: 35785410Free PMC Article
Dehesa-Santos A, Iber-Diaz P, Iglesias-Linares A
Clin Oral Investig 2021 Apr;25(4):1587-1612. Epub 2021 Feb 7 doi: 10.1007/s00784-020-03731-5. PMID: 33550467
Abou Al Hassan S, Cutinha D, Mattar L
Eat Weight Disord 2021 Jun;26(5):1323-1344. Epub 2020 Aug 11 doi: 10.1007/s40519-020-00978-5. PMID: 32783113
Brison DR, Sturmey RG, Leese HJ
Hum Reprod Update 2014 Sep-Oct;20(5):632-40. Epub 2014 May 2 doi: 10.1093/humupd/dmu018. PMID: 24795173
Acke FR, Dhooge IJ, Malfait F, De Leenheer EM
Orphanet J Rare Dis 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. PMID: 23110709Free PMC Article

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