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 UAMS Profiles 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 |
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2024 | 2 | 11 | 13 | 2023 | 0 | 9 | 9 | 2022 | 0 | 13 | 13 | 2021 | 2 | 21 | 23 | 2020 | 4 | 25 | 29 | 2019 | 2 | 33 | 35 | 2018 | 5 | 28 | 33 | 2017 | 2 | 29 | 31 | 2016 | 8 | 31 | 39 | 2015 | 3 | 24 | 27 | 2014 | 3 | 24 | 27 | 2013 | 1 | 28 | 29 | 2012 | 1 | 22 | 23 | 2011 | 0 | 15 | 15 | 2010 | 1 | 15 | 16 | 2009 | 0 | 18 | 18 | 2008 | 3 | 14 | 17 | 2007 | 0 | 8 | 8 | 2006 | 1 | 16 | 17 | 2005 | 1 | 14 | 15 | 2004 | 0 | 16 | 16 | 2003 | 0 | 19 | 19 | 2002 | 1 | 13 | 14 | 2001 | 0 | 9 | 9 | 2000 | 0 | 7 | 7 | 1999 | 0 | 3 | 3 | 1998 | 0 | 1 | 1 | 1997 | 0 | 5 | 5 | 1996 | 0 | 2 | 2 | 1995 | 0 | 3 | 3 | 1994 | 0 | 5 | 5 | 1993 | 0 | 2 | 2 | 1992 | 0 | 1 | 1 | 1990 | 0 | 4 | 4 |
To return to the timeline, click here.
Below are the most recent publications written about "Phenotype" by people in Profiles over the past ten years.
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den Hoed J, Hashimoto H, Khan M, Semmekrot F, Bosanko KA, Abe-Hatano C, Nakagawa E, Venselaar H, Quercia N, Chad L, Kurosaka H, Rondeau S, Fisher SE, Yamamoto S, Zarate YA. Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes. J Med Genet. 2024 Oct 23; 61(11):1062-1067.
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Blanco T, Nakagawa H, Musayeva A, Krauthammer M, Singh RB, Narimatsu A, Ge H, Shoushtari SI, Dana R. Acquired immunostimulatory phenotype of migratory CD103+ DCs promotes alloimmunity following corneal transplantation. JCI Insight. 2024 Oct 22; 9(20).
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Li P, Spector E, Alkhuzam K, Patel R, Donahoo WT, Bost S, Lyu T, Wu Y, Hogan W, Prosperi M, Dixon BE, Dabelea D, Utidjian LH, Crume TL, Thorpe L, Liese AD, Schatz DA, Atkinson MA, Haller MJ, Shenkman EA, Guo Y, Bian J, Shao H. Developing an automated algorithm for identification of children and adolescents with diabetes using electronic health records from the OneFlorida+ clinical research network. Diabetes Obes Metab. 2025 Jan; 27(1):102-110.
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Nemiroff S, Goulden P. Tailoring an antihyperglycaemic regimen to a monogenic diabetes variant. BMJ Case Rep. 2024 Sep 20; 17(9).
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Jeong JW, Lee MH, Behen M, Uda H, Gjolaj N, Luat A, Asano E, Juh?sz C. Quantitative phenotyping of verbal and non-verbal cognitive impairment using diffusion-weighted MRI connectome: Preliminary study of the crowding effect in children with left hemispheric epilepsy. Epilepsy Behav. 2024 Nov; 160:110009.
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Zhao C, Rong K, Liu P, Kong K, Li H, Zhang P, Chen X, Fu Q, Wang X. Preventing periprosthetic osteolysis in aging populations through lymphatic activation and stem cell-associated secretory phenotype inhibition. Commun Biol. 2024 Aug 09; 7(1):962.
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Zarate YA, Bosanko K, Derar N, Fish JL. Abnormalities in pharyngeal arch-derived structures in SATB2-associated syndrome. Clin Genet. 2024 Aug; 106(2):209-213.
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Ozrazgat-Baslanti T, Ren Y, Adiyeke E, Islam R, Hashemighouchani H, Ruppert M, Miao S, Loftus T, Johnson-Mann C, Madushani RWMA, Shenkman EA, Hogan W, Segal MS, Lipori G, Bihorac A, Hobson C. Development and validation of a race-agnostic computable phenotype for kidney health in adult hospitalized patients. PLoS One. 2024; 19(4):e0299332.
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Attaway AH, Lopez R, Welch N, Bellar A, Hatipoglu U, Zein J, Engelen MP, Dasarathy S. Muscle loss phenotype in COPD is associated with adverse outcomes in the UK Biobank. BMC Pulm Med. 2024 Apr 17; 24(1):186.
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Dittman JM, Prakash SK, Gupta PC, Wiszniewski W, Singh N, Smeds MR, Shalhub S. Practice Patterns and Barriers to Vascular Genetic Testing Among Vascular Surgeons. Ann Vasc Surg. 2024 Aug; 105:140-149.
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Khrom M, Long M, Dube S, Robbins L, Botwin GJ, Yang S, Mengesha E, Li D, Naito T, Bonthala NN, Ha C, Melmed G, Rabizadeh S, Syal G, Vasiliauskas E, Ziring D, Brant SR, Cho J, Duerr RH, Rioux J, Schumm P, Silverberg M, Ananthakrishnan AN, Faubion WA, Jabri B, Lira SA, Newberry RD, Sandler RS, Xavier RJ, Kugathasan S, Hercules D, Targan SR, Sartor RB, Haritunians T, McGovern DPB. Comprehensive Association Analyses of Extraintestinal Manifestations in Inflammatory Bowel Disease. Gastroenterology. 2024 Jul; 167(2):315-332.
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Mahmood L, Keskin S, Jefferson AA. Precision care in the treatment of pediatric asthma. Curr Opin Pediatr. 2024 06 01; 36(3):304-309.
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Walitt B, Singh K, LaMunion SR, Hallett M, Jacobson S, Chen K, Enose-Akahata Y, Apps R, Barb JJ, Bedard P, Brychta RJ, Buckley AW, Burbelo PD, Calco B, Cathay B, Chen L, Chigurupati S, Chen J, Cheung F, Chin LMK, Coleman BW, Courville AB, Deming MS, Drinkard B, Feng LR, Ferrucci L, Gabel SA, Gavin A, Goldstein DS, Hassanzadeh S, Horan SC, Horovitz SG, Johnson KR, Govan AJ, Knutson KM, Kreskow JD, Levin M, Lyons JJ, Madian N, Malik N, Mammen AL, McCulloch JA, McGurrin PM, Milner JD, Moaddel R, Mueller GA, Mukherjee A, Mu?oz-Braceras S, Norato G, Pak K, Pinal-Fernandez I, Popa T, Reoma LB, Sack MN, Safavi F, Saligan LN, Sellers BA, Sinclair S, Smith B, Snow J, Solin S, Stussman BJ, Trinchieri G, Turner SA, Vetter CS, Vial F, Vizioli C, Williams A, Yang SB, Nath A. Deep phenotyping of post-infectious myalgic encephalomyelitis/chronic fatigue syndrome. Nat Commun. 2024 Feb 21; 15(1):907.
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Wang P, Xu X, Li M, Lou XY, Xu S, Wu B, Gao G, Yin P, Liu N. Gene-based association tests in family samples using GWAS summary statistics. Genet Epidemiol. 2024 04; 48(3):103-113.
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Bayat A, Iavarone S, Miceli F, Jakobsen AV, Johannesen KM, Nikanorova M, Ploski R, Szymanska K, Flamini R, Cooper EC, Weckhuysen S, Taglialatela M, M?ller RS. Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment. Neurotherapeutics. 2024 Jan; 21(1):e00296.
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Saxena D, Tiwari AK, Prasad R, Srivastav S. Resolving fetal hydrops - A rare entity. Eur J Med Genet. 2023 Dec; 66(12):104888.
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Duan R, Marafi D, Xia ZJ, Ng BG, Maroofian R, Sumya FT, Saad AK, Du H, Fatih JM, Hunter JV, Elbendary HM, Baig SM, Abdullah U, Ali Z, Efthymiou S, Murphy D, Mitani T, Withers MA, Jhangiani SN, Coban-Akdemir Z, Calame DG, Pehlivan D, Gibbs RA, Posey JE, Houlden H, Lupashin VV, Zaki MS, Freeze HH, Lupski JR. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. J Inherit Metab Dis. 2023 11; 46(6):1195-1205.
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Barlak N, Kusdemir G, Gumus R, Gundogdu B, Sahin MH, Tatar A, Ittmann M, Karatas OF. Overexpression of POFUT1 promotes malignant phenotype and mediates perineural invasion in head and neck squamous cell carcinoma. Cell Biol Int. 2023 Dec; 47(12):1950-1963.
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Novak T, Crawford JC, Hahn G, Hall MW, Thair SA, Newhams MM, Chou J, Mourani PM, Tarquinio KM, Markovitz B, Loftis LL, Weiss SL, Higgerson R, Schwarz AJ, Pinto NP, Thomas NJ, Gedeit RG, Sanders RC, Mahapatra S, Coates BM, Cvijanovich NZ, Ackerman KG, Tellez DW, McQuillen P, Kurachek SC, Shein SL, Lange C, Thomas PG, Randolph AG. Transcriptomic profiles of multiple organ dysfunction syndrome phenotypes in pediatric critical influenza. Front Immunol. 2023; 14:1220028.
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Howie EK, Nelson A, McVeigh JA, Andres A. Physical Activity, Sedentary and Sleep Phenotypes in Women During the First Trimester of Pregnancy. Matern Child Health J. 2023 Oct; 27(10):1834-1845.
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AlAbdi L, Desbois M, Rusnac DV, Sulaiman RA, Rosenfeld JA, Lalani S, Murdock DR, Burrage LC, Billie Au PY, Towner S, Wilson WG, Wong L, Brunet T, Strobl-Wildemann G, Burton JE, Hoganson G, McWalter K, Begtrup A, Zarate YA, Christensen EL, Opperman KJ, Giles AC, Helaby R, Kania A, Zheng N, Grill B, Alkuraya FS. Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects. Brain. 2023 04 19; 146(4):1373-1387.
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Liu J, Mark Park YM, Ma J, Lavie CJ. Trends in Metabolic Phenotypes of Obesity Among US Adolescents, NHANES 1999-2018. Mayo Clin Proc. 2023 04; 98(4):633-636.
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Taylor MK, Williams EP, Xue Y, Jenjaroenpun P, Wongsurawat T, Smith AP, Smith AM, Parvathareddy J, Kong Y, Vogel P, Cao X, Reichard W, Spruill-Harrell B, Samarasinghe AE, Nookaew I, Fitzpatrick EA, Smith MD, Aranha M, Smith JC, Jonsson CB. Dissecting Phenotype from Genotype with Clinical Isolates of SARS-CoV-2 First Wave Variants. Viruses. 2023 02 23; 15(3).
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Puzyrenko A, Jacobs ER, Padilla N, Devine A, Aljadah M, Gantner BN, Pan AY, Lai S, Dai Q, Rubenstein JC, North PE, Simpson PM, Willoughby RE, O'Meara CC, Flinn MA, Lough JW, Ibrahim EH, Zheng Z, Sun Y, Felix J, Hunt BC, Ross G, Rui H, Benjamin IJ. Collagen-Specific HSP47+ Myofibroblasts and CD163+ Macrophages Identify Profibrotic Phenotypes in Deceased Hearts With SARS-CoV-2 Infections. J Am Heart Assoc. 2023 02 21; 12(4):e027990.
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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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Suzuki A, Tillmann H, Williams J, Hauser RG, Frund J, Suzuki M, Prior F, Aithal GP, Lucena MI, Andrade RJ, Tong W, Hunt CM. Assessment of the Frequency, Phenotypes, and Outcomes of Acute Liver Injury Associated with Amoxicillin/Clavulanate in 1.4 Million Patients in the Veterans Health Administration. Drug Saf. 2023 02; 46(2):129-143.
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Khatun M, Monir MM, Lou X, Zhu J, Xu H. Genome-wide association studies revealed complex genetic architecture and breeding perspective of maize ear traits. BMC Plant Biol. 2022 Nov 18; 22(1):537.
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Govindarajan S, Khandelwal P, Sharma S, Agarwala A, Sinha A, Hari P, Bagga A. Clinical Features and Genetic Sequencing of Children with Fanconi-Bickel Syndrome. Indian J Pediatr. 2023 02; 90(2):178-180.
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Mok RSF, Zhang W, Sheikh TI, Pradeepan K, Fernandes IR, DeJong LC, Benigno G, Hildebrandt MR, Mufteev M, Rodrigues DC, Wei W, Piekna A, Liu J, Muotri AR, Vincent JB, Muller L, Martinez-Trujillo J, Salter MW, Ellis J. Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations. Transl Psychiatry. 2022 10 18; 12(1):450.
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Helleu Q, Roux C, Ross KG, Keller L. Radiation and hybridization underpin the spread of the fire ant social supergene. Proc Natl Acad Sci U S A. 2022 08 23; 119(34):e2201040119.
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Fu FX, Tschitschko B, Hutchins DA, Larsson ME, Baker KG, McInnes A, Kahlke T, Verma A, Murray SA, Doblin MA. Temperature variability interacts with mean temperature to influence the predictability of microbial phenotypes. Glob Chang Biol. 2022 10; 28(19):5741-5754.
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Paidi SK, Troncoso JR, Harper MG, Liu Z, Nguyen KG, Ravindranathan S, Rebello L, Lee DE, Ivers JD, Zaharoff DA, Rajaram N, Barman I. Raman spectroscopy reveals phenotype switches in breast cancer metastasis. Theranostics. 2022; 12(12):5351-5363.
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Hanna Al-Shaikh R, Milanowski LM, Holla VV, Kurihara K, Yadav R, Kamble N, Muthusamy B, Bellad A, Koziorowski D, Szlufik S, Hoffman-Zacharska D, Fujioka S, Tsuboi Y, Ross OA, Wierenga K, Uitti RJ, Wszolek Z, Pal PK. PLA2G6-associated neurodegeneration in four different populations-case series and literature review. Parkinsonism Relat Disord. 2022 08; 101:66-74.
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Bustoros M, Anand S, Sklavenitis-Pistofidis R, Redd R, Boyle EM, Zhitomirsky B, Dunford AJ, Tai YT, Chavda SJ, Boehner C, Neuse CJ, Rahmat M, Dutta A, Casneuf T, Verona R, Kastritis E, Trippa L, Stewart C, Walker BA, Davies FE, Dimopoulos MA, Bergsagel PL, Yong K, Morgan GJ, Aguet F, Getz G, Ghobrial IM. Genetic subtypes of smoldering multiple myeloma are associated with distinct pathogenic phenotypes and clinical outcomes. Nat Commun. 2022 06 15; 13(1):3449.
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Landes RD, Glover A, Pillai L, Doerhoff S, Virmani T. Levodopa ONOFF-state freezing of gait: Defining the gait and non-motor phenotype. PLoS One. 2022; 17(6):e0269227.
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Howe LJ, Nivard MG, Morris TT, Hansen AF, Rasheed H, Cho Y, Chittoor G, Ahlskog R, Lind PA, Palviainen T, van der Zee MD, Cheesman R, Mangino M, Wang Y, Li S, Klaric L, Ratliff SM, Bielak LF, Nygaard M, Giannelis A, Willoughby EA, Reynolds CA, Balbona JV, Andreassen OA, Ask H, Baras A, Bauer CR, Boomsma DI, Campbell A, Campbell H, Chen Z, Christofidou P, Corfield E, Dahm CC, Dokuru DR, Evans LM, de Geus EJC, Giddaluru S, Gordon SD, Harden KP, Hill WD, Hughes A, Kerr SM, Kim Y, Kweon H, Latvala A, Lawlor DA, Li L, Lin K, Magnus P, Magnusson PKE, Mallard TT, Martikainen P, Mills MC, Nj?lstad PR, Overton JD, Pedersen NL, Porteous DJ, Reid J, Silventoinen K, Southey MC, Stoltenberg C, Tucker-Drob EM, Wright MJ, Hewitt JK, Keller MC, Stallings MC, Lee JJ, Christensen K, Kardia SLR, Peyser PA, Smith JA, Wilson JF, Hopper JL, H?gg S, Spector TD, Pingault JB, Plomin R, Havdahl A, Bartels M, Martin NG, Oskarsson S, Justice AE, Millwood IY, Hveem K, Naess ?, Willer CJ, ?svold BO, Koellinger PD, Kaprio J, Medland SE, Walters RG, Benjamin DJ, Turley P, Evans DM, Davey Smith G, Hayward C, Brumpton B, Hemani G, Davies NM. Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects. Nat Genet. 2022 05; 54(5):581-592.
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Zarate YA, Morris SA, Blackshare A, Algaze CA, Connor BS, Kim AJ, Yutzey KE, Miller EM, Weaver KN, Collins RT. A clinical scoring system for early onset (neonatal) Marfan syndrome. Genet Med. 2022 07; 24(7):1503-1511.
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Sallam A, Eltaher S, Alqudah AM, Belamkar V, Baenziger PS. Combined GWAS and QTL mapping revealed candidate genes and SNP network controlling recovery and tolerance traits associated with drought tolerance in seedling winter wheat. Genomics. 2022 05; 114(3):110358.
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Patel RS, Denaxas S, Howe LJ, Eggo RM, Shah AD, Allen NE, Danesh J, Hingorani A, Sudlow C, Hemingway H. Reproducible disease phenotyping at scale: Example of coronary artery disease in UK Biobank. PLoS One. 2022; 17(4):e0264828.
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Hermann RP, Rockey DC, Suzuki A, Merz M, Tillmann HL. A novel phenotype-based drug-induced liver injury causality assessment tool (DILI-CAT) allows for signal confirmation in early drug development. Aliment Pharmacol Ther. 2022 04; 55(8):1028-1037.
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Torvik FA, Eilertsen EM, Hannigan LJ, Cheesman R, Howe LJ, Magnus P, Reichborn-Kjennerud T, Andreassen OA, Nj?lstad PR, Havdahl A, Ystrom E. Modeling assortative mating and genetic similarities between partners, siblings, and in-laws. Nat Commun. 2022 03 01; 13(1):1108.
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Smiech M, Leszczynski P, Wardell C, Poznanski P, Pierzchala M, Taniguchi H. Oncogenic Mutation BRAF V600E Changes Phenotypic Behavior of THLE-2 Liver Cells through Alteration of Gene Expression. Int J Mol Sci. 2022 Jan 28; 23(3).
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Singh P, Heer M, Resteu A, Mikulasova A, Reza M, Largeaud L, Dufrechou S, Prade N, Dickinson RE, Bustamante J, Neven B, Bigley V, Delabesse E, Rico D, Pasquet M, Collin M. GATA2 deficiency phenotype associated with tandem duplication of GATA2 and overexpression of GATA2-AS1. Blood Adv. 2021 12 28; 5(24):5631-5635.
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Avalos DJ, Satiya J, Contreras A, Trivedi S, Alvarado L, Dodoo C, Dwivedi AK, Zuckerman MJ. Latin Americans and US Hispanics show differences in IBD phenotype: a systematic review with meta-analysis. J Investig Med. 2022 04; 70(4):919-933.
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Rom JS, Beenken KE, Ramirez AM, Walker CM, Echols EJ, Smeltzer MS. Limiting protease production plays a key role in the pathogenesis of the divergent clinical isolates of Staphylococcus aureus LAC and UAMS-1. Virulence. 2021 12; 12(1):584-600.
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Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T. Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). J Med Genet. 2022 Sep; 59(9):865-877.
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Srinivasan P, Bandlamudi C, Jonsson P, Kemel Y, Chavan SS, Richards AL, Penson AV, Bielski CM, Fong C, Syed A, Jayakumaran G, Prasad M, Hwee J, Sumer SO, de Bruijn I, Li X, Gao J, Schultz N, Cambria R, Galle J, Mukherjee S, Vijai J, Cadoo KA, Carlo MI, Walsh MF, Mandelker D, Ceyhan-Birsoy O, Shia J, Zehir A, Ladanyi M, Hyman DM, Zhang L, Offit K, Robson ME, Solit DB, Stadler ZK, Berger MF, Taylor BS. The context-specific role of germline pathogenicity in tumorigenesis. Nat Genet. 2021 11; 53(11):1577-1585.
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Nellis M, Caperton CO, Liu K, Tran V, Go YM, Hallberg LM, Ameredes BT, Jones DP, Boysen G. Lung metabolome of 1,3-butadiene exposed Collaborative Cross mice reflects metabolic phenotype of human lung cancer. Toxicology. 2021 11; 463:152987.
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Widiapradja A, Kasparian AO, McCaffrey SL, Kolb LL, Imig JD, Lacey JL, Melendez GC, Levick SP. Replacement of Lost Substance P Reduces Fibrosis in the Diabetic Heart by Preventing Adverse Fibroblast and Macrophage Phenotype Changes. Cells. 2021 10 05; 10(10).
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Muthusamy K, Ferrer A, Klee EW, Wierenga KJ, Gavrilova RH. Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants. Mol Genet Genomic Med. 2021 10; 9(10):e1799.
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Alhallak I, Wolter KG, Castro Munoz A, Simmen FA, Ward RJ, Petty SA, Li LX, Simmen RCM. Breast adipose regulation of premenopausal breast epithelial phenotype involves interleukin 10. J Mol Endocrinol. 2021 09 09; 67(4):173-188.
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Binaafar S, Garshasbi M, Tavasoli AR, Badv RS, Hosseiny SMM, Samanta D, Rabbani B, Mahdieh N. Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review. Dev Neurosci. 2021; 43(6):348-357.
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Ezzelarab MB, Zhang H, Sasaki K, Lu L, Zahorchak AF, van der Windt DJ, Dai H, Perez-Gutierrez A, Bhama JK, Thomson AW. Ex Vivo Expanded Donor Alloreactive Regulatory T Cells Lose Immunoregulatory, Proliferation, and Antiapoptotic Markers After Infusion Into ATG-lymphodepleted, Nonhuman Primate Heart Allograft Recipients. Transplantation. 2021 09 01; 105(9):1965-1979.
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Matsumoto T, Oda Y, Hasegawa Y, Hashimura M, Oguri Y, Inoue H, Yokoi A, Tochimoto M, Nakagawa M, Jiang Z, Saegusa M. Anaplastic Lymphoma Kinase Overexpression Is Associated with Aggressive Phenotypic Characteristics of Ovarian High-Grade Serous Carcinoma. Am J Pathol. 2021 10; 191(10):1837-1850.
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Mohsin SS, Abbas Q, Chowdhary D, Khalid F, Sheikh AS, Ali Khan ZG, Aslam N, Bhatti OA, Inam M, Saleem AF, Bhutta AT. Multisystem inflammatory syndrome (MIS-C) in Pakistani children: A description of the phenotypes and comparison with historical cohorts of children with Kawasaki disease and myocarditis. PLoS One. 2021; 16(6):e0253625.
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Fowlkes JL, Thrailkill KM, Bunn RC. RASopathies: The musculoskeletal consequences and their etiology and pathogenesis. Bone. 2021 11; 152:116060.
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Ono-Moore KD, Olfert IM, Rutkowsky JM, Chintapalli SV, Willis BJ, Blackburn ML, Williams DK, O'Reilly J, Tolentino T, Lloyd KCK, Adams SH. Metabolic physiology and skeletal muscle phenotypes in male and female myoglobin knockout mice. Am J Physiol Endocrinol Metab. 2021 07 01; 321(1):E63-E79.
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Zarate YA, Bosanko KA, Caffrey AR. SATB2-associated syndrome in adolescents and adults. Am J Med Genet A. 2021 08; 185(8):2391-2398.
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Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hanc?rov? M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenk?lbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ?L, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalov? D, Rhodes L, Sanders VR, Sedl?cek Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, T?nne E, Tveten K, Vitiello G, Vlckov? M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. Am J Hum Genet. 2021 05 06; 108(5):857-873.
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Gianferante MD, Wlodarski MW, Atsidaftos E, Da Costa L, Delaporta P, Farrar JE, Goldman FD, Hussain M, Kattamis A, Leblanc T, Lipton JM, Niemeyer CM, Pospisilova D, Quarello P, Ramenghi U, Sankaran VG, Vlachos A, Volejnikova J, Alter BP, Savage SA, Giri N. Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A. Haematologica. 2021 05 01; 106(5):1303-1310.
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Sharkey CM, Mullins LL, Clawson AH, Gioia A, Hawkins MAW, Chaney JM, Walsh KS, Hardy KK. Assessing neuropsychological phenotypes of pediatric brain tumor survivors. Psychooncology. 2021 08; 30(8):1366-1374.
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Boets S, Johannesen KM, Destree A, Manti F, Ramantani G, Lesca G, Vercueil L, Koenig MK, Striano P, M?ller RS, Cooper E, Weckhuysen S. Adult phenotype of KCNQ2 encephalopathy. J Med Genet. 2022 06; 59(6):528-535.
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Walworth NG, Lee MD, Dolzhenko E, Fu FX, Smith AD, Webb EA, Hutchins DA. Long-Term m5C Methylome Dynamics Parallel Phenotypic Adaptation in the Cyanobacterium Trichodesmium. Mol Biol Evol. 2021 03 09; 38(3):927-939.
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Patel J, Bircan E, Tang X, Orloff M, Hobbs CA, Browne ML, Botto LD, Finnell RH, Jenkins MM, Olshan A, Romitti PA, Shaw GM, Werler MM, Li J, Nembhard WN. Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach. PLoS Genet. 2021 03; 17(3):e1009413.
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