Mutation
"Mutation" 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.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Descriptor ID |
D009154
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MeSH Number(s) |
G05.365.590
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Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Mutation".
Below are MeSH descriptors whose meaning is more specific than "Mutation".
This graph shows the total number of publications written about "Mutation" by people in UAMS Profiles by year, and whether "Mutation" 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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2021 | 0 | 2 | 2 | 2020 | 7 | 15 | 22 | 2019 | 14 | 31 | 45 | 2018 | 20 | 35 | 55 | 2017 | 16 | 33 | 49 | 2016 | 20 | 29 | 49 | 2015 | 16 | 29 | 45 | 2014 | 12 | 35 | 47 | 2013 | 11 | 34 | 45 | 2012 | 9 | 32 | 41 | 2011 | 15 | 30 | 45 | 2010 | 16 | 19 | 35 | 2009 | 16 | 17 | 33 | 2008 | 13 | 24 | 37 | 2007 | 9 | 20 | 29 | 2006 | 10 | 26 | 36 | 2005 | 7 | 28 | 35 | 2004 | 7 | 22 | 29 | 2003 | 11 | 25 | 36 | 2002 | 12 | 24 | 36 | 2001 | 4 | 11 | 15 | 2000 | 4 | 8 | 12 | 1999 | 4 | 8 | 12 | 1998 | 3 | 4 | 7 | 1997 | 5 | 6 | 11 | 1996 | 3 | 8 | 11 | 1995 | 2 | 1 | 3 | 1994 | 2 | 6 | 8 | 1993 | 0 | 1 | 1 | 1992 | 1 | 0 | 1 | 1991 | 0 | 2 | 2 | 1990 | 1 | 1 | 2 | 1989 | 0 | 3 | 3 | 1987 | 0 | 1 | 1 | 1986 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Mutation" by people in Profiles over the past ten years.
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Boyle EM, Deshpande S, Tytarenko R, Ashby C, Wang Y, Bauer MA, Johnson SK, Wardell CP, Thanendrarajan S, Zangari M, Facon T, Dumontet C, Barlogie B, Arbini A, Rustad EH, Maura F, Landgren O, Zhan F, van Rhee F, Schinke C, Davies FE, Morgan GJ, Walker BA. The molecular make up of smoldering myeloma highlights the evolutionary pathways leading to multiple myeloma. Nat Commun. 2021 01 12; 12(1):293.
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Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. A dyadic approach to the delineation of diagnostic entities in clinical genomics. Am J Hum Genet. 2021 01 07; 108(1):8-15.
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Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism. Am J Hum Genet. 2020 11 05; 107(5):963-976.
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Zhao M, Nanbo A, Becnel D, Qin Z, Morris GF, Li L, Lin Z. Ubiquitin Modification of the Epstein-Barr Virus Immediate Early Transactivator Zta. J Virol. 2020 10 27; 94(22).
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Reitz CJ, Alibhai FJ, de Lima-Seolin BG, Nemec-Bakk A, Khaper N, Martino TA. Circadian mutant mice with obesity and metabolic syndrome are resilient to cardiovascular disease. Am J Physiol Heart Circ Physiol. 2020 11 01; 319(5):H1097-H1111.
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Li W, Schäfer A, Kulkarni SS, Liu X, Martinez DR, Chen C, Sun Z, Leist SR, Drelich A, Zhang L, Ura ML, Berezuk A, Chittori S, Leopold K, Mannar D, Srivastava SS, Zhu X, Peterson EC, Tseng CT, Mellors JW, Falzarano D, Subramaniam S, Baric RS, Dimitrov DS. High Potency of a Bivalent Human VH Domain in SARS-CoV-2 Animal Models. Cell. 2020 10 15; 183(2):429-441.e16.
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Grosswendt S, Kretzmer H, Smith ZD, Kumar AS, Hetzel S, Wittler L, Klages S, Timmermann B, Mukherji S, Meissner A. Epigenetic regulator function through mouse gastrulation. Nature. 2020 08; 584(7819):102-108.
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D'Souza Z, Taher FS, Lupashin VV. Golgi inCOGnito: From vesicle tethering to human disease. Biochim Biophys Acta Gen Subj. 2020 11; 1864(11):129694.
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Landau HJ, Yellapantula V, Diamond BT, Rustad EH, Maclachlan KH, Gundem G, Medina-Martinez J, Ossa JA, Levine MF, Zhou Y, Kappagantula R, Baez P, Attiyeh M, Makohon-Moore A, Zhang L, Boyle EM, Ashby C, Blaney P, Patel M, Zhang Y, Dogan A, Chung DJ, Giralt S, Lahoud OB, Peled JU, Scordo M, Shah G, Hassoun H, Korde NS, Lesokhin AM, Lu S, Mailankody S, Shah U, Smith E, Hultcrantz ML, Ulaner GA, van Rhee F, Morgan GJ, Landgren O, Papaemmanuil E, Iacobuzio-Donahue C, Maura F. Accelerated single cell seeding in relapsed multiple myeloma. Nat Commun. 2020 07 17; 11(1):3617.
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Abe T, Nakashima C, Sato A, Harada Y, Sueoka E, Kimura S, Kawaguchi A, Sueoka-Aragane N. Origin of circulating free DNA in patients with lung cancer. PLoS One. 2020; 15(7):e0235611.
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Kallen ME, Koka R, Singh Z, Sanchez-Petitto G, Zaman QU, Yared JA, Duong VH. Teenage mutant neutrophilic precursors: Leukemia cutis with IDH2 mutation on enasidenib therapy. Leuk Res. 2020 09; 96:106406.
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Zhang H, Ahearn TU, Lecarpentier J, Barnes D, Beesley J, Qi G, Jiang X, O'Mara TA, Zhao N, Bolla MK, Dunning AM, Dennis J, Wang Q, Ful ZA, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Arun BK, Auer PL, Azzollini J, Barrowdale D, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bialkowska K, Blanco A, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Bondavalli D, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Brucker SY, Brüning T, Burwinkel B, Buys SS, Byers H, Caldés T, Caligo MA, Calvello M, Campa D, Castelao JE, Chang-Claude J, Chanock SJ, Christiaens M, Christiansen H, Chung WK, Claes KBM, Clarke CL, Cornelissen S, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Diez O, Domchek SM, Dörk T, Dwek M, Eccles DM, Ekici AB, Evans DG, Fasching PA, Figueroa J, Foretova L, Fostira F, Friedman E, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, García-Sáenz JA, Gaudet MM, Gayther SA, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Häberle L, Hahnen E, Haiman CA, Hake CR, Hall P, Hamann U, Harkness EF, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Huebner H, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jager A, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John EM, Jones ME, Jung A, Kaaks R, Kapoor PM, Karlan BY, Keeman R, Khan S, Khusnutdinova E, Kitahara CM, Ko YD, Konstantopoulou I, Koppert LB, Koutros S, Kristensen VN, Laenkholm AV, Lambrechts D, Larsson SC, Laurent-Puig P, Lazaro C, Lazarova E, Lejbkowicz F, Leslie G, Lesueur F, Lindblom A, Lissowska J, Lo WY, Loud JT, Lubinski J, Lukomska A, MacInnis RJ, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Matricardi L, McGuffog L, McLean C, Mebirouk N, Meindl A, Menon U, Miller A, Mingazheva E, Montagna M, Mulligan AM, Mulot C, Muranen TA, Nathanson KL, Neuhausen SL, Nevanlinna H, Neven P, Newman WG, Nielsen FC, Nikitina-Zake L, Nodora J, Offit K, Olah E, Olopade OI, Olsson H, Orr N, Papi L, Papp J, Park-Simon TW, Parsons MT, Peissel B, Peixoto A, Peshkin B, Peterlongo P, Peto J, Phillips KA, Piedmonte M, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Prokofyeva D, Rack B, Radice P, Ramus SJ, Rantala J, Rashid MU, Rennert G, Rennert HS, Risch HA, Romero A, Rookus MA, Rübner M, Rüdiger T, Saloustros E, Sampson S, Sandler DP, Sawyer EJ, Scheuner MT, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schöttker B, Schürmann P, Senter L, Sharma P, Sherman ME, Shu XO, Singer CF, Smichkoska S, Soucy P, Southey MC, Spinelli JJ, Stone J, Stoppa-Lyonnet D, Swerdlow AJ, Szabo CI, Tamimi RM, Tapper WJ, Taylor JA, Teixeira MR, Terry M, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Torres D, Troester MA, Truong T, Tung N, Untch M, Vachon CM, van den Ouweland AMW, van der Kolk LE, van Veen EM, vanRensburg EJ, Vega A, Wappenschmidt B, Weinberg CR, Weitzel JN, Wildiers H, Winqvist R, Wolk A, Yang XR, Yannoukakos D, Zheng W, Zorn KK, Milne RL, Kraft P, Simard J, Pharoah PDP, Michailidou K, Antoniou AC, Schmidt MK, Chenevix-Trench G, Easton DF, Chatterjee N, García-Closas M. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nat Genet. 2020 06; 52(6):572-581.
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Shah RB, Stohr BA, Tu ZJ, Gao Y, Przybycin CG, Nguyen J, Cox RM, Rashid-Kolvear F, Weindel MD, Farkas DH, Trpkov K, McKenney JK. "Renal Cell Carcinoma With Leiomyomatous Stroma" Harbor Somatic Mutations of TSC1, TSC2, MTOR, and/or ELOC (TCEB1): Clinicopathologic and Molecular Characterization of 18 Sporadic Tumors Supports a Distinct Entity. Am J Surg Pathol. 2020 05; 44(5):571-581.
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Moccia M, Frett B, Zhang L, Lakkaniga NR, Briggs DC, Chauhan R, Brescia A, Federico G, Yan W, Santoro M, McDonald NQ, Li HY, Carlomagno F. Bioisosteric Discovery of NPA101.3, a Second-Generation RET/VEGFR2 Inhibitor Optimized for Single-Agent Polypharmacology. J Med Chem. 2020 05 14; 63(9):4506-4516.
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Ashby C, Rutherford M, Bauer MA, Peterson EA, Wang Y, Boyle EM, Wardell CP, Walker BA. TarPan: an easily adaptable targeted sequencing panel viewer for research and clinical use. BMC Bioinformatics. 2020 Apr 15; 21(1):144.
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de Jesus AA, Hou Y, Brooks S, Malle L, Biancotto A, Huang Y, Calvo KR, Marrero B, Moir S, Oler AJ, Deng Z, Montealegre Sanchez GA, Ahmed A, Allenspach E, Arabshahi B, Behrens E, Benseler S, Bezrodnik L, Bout-Tabaku S, Brescia AC, Brown D, Burnham JM, Caldirola MS, Carrasco R, Chan AY, Cimaz R, Dancey P, Dare J, DeGuzman M, Dimitriades V, Ferguson I, Ferguson P, Finn L, Gattorno M, Grom AA, Hanson EP, Hashkes PJ, Hedrich CM, Herzog R, Horneff G, Jerath R, Kessler E, Kim H, Kingsbury DJ, Laxer RM, Lee PY, Lee-Kirsch MA, Lewandowski L, Li S, Lilleby V, Mammadova V, Moorthy LN, Nasrullayeva G, O'Neil KM, Onel K, Ozen S, Pan N, Pillet P, Piotto DG, Punaro MG, Reiff A, Reinhardt A, Rider LG, Rivas-Chacon R, Ronis T, Rösen-Wolff A, Roth J, Ruth NM, Rygg M, Schmeling H, Schulert G, Scott C, Seminario G, Shulman A, Sivaraman V, Son MB, Stepanovskiy Y, Stringer E, Taber S, Terreri MT, Tifft C, Torgerson T, Tosi L, Van Royen-Kerkhof A, Wampler Muskardin T, Canna SW, Goldbach-Mansky R. Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. J Clin Invest. 2020 04 01; 130(4):1669-1682.
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Stevens D, Claborn MK, Gildon BL, Kessler TL, Walker C. Onasemnogene Abeparvovec-xioi: Gene Therapy for Spinal Muscular Atrophy. Ann Pharmacother. 2020 10; 54(10):1001-1009.
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Franco AT, Labourier E, Ablordeppey KK, Surrey LF, Mostoufi-Moab S, Isaza A, Adzick NS, Kazahaya K, Kumar G, Bauer AJ. miRNA expression can classify pediatric thyroid lesions and increases the diagnostic yield of mutation testing. Pediatr Blood Cancer. 2020 06; 67(6):e28276.
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Srinivasan A, Zhou Y, Scordino T, Prabhu S, Wierenga A, Simon G, Wierenga KJ, Thompson J, Shah R, Sinha AA. IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria. Pediatr Hematol Oncol. 2020 Aug; 37(5):431-437.
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Singh A, Pandey M, Nandakumar D, Raney KD, Yin YW, Patel SS. Excessive excision of correct nucleotides during DNA synthesis explained by replication hurdles. EMBO J. 2020 03 16; 39(6):e103367.
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Dimori M, Heard-Lipsmeyer ME, Byrum SD, Mackintosh SG, Kurten RC, Carroll JL, Morello R. Respiratory defects in the CrtapKO mouse model of osteogenesis imperfecta. Am J Physiol Lung Cell Mol Physiol. 2020 04 01; 318(4):L592-L605.
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Rom JS, Ramirez AM, Beenken KE, Sahukhal GS, Elasri MO, Smeltzer MS. The Impacts of msaABCR on sarA-Associated Phenotypes Are Different in Divergent Clinical Isolates of Staphylococcus aureus. Infect Immun. 2020 01 22; 88(2).
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Maura F, Rustad EH, Boyle EM, Morgan GJ. Reconstructing the evolutionary history of multiple myeloma. Best Pract Res Clin Haematol. 2020 03; 33(1):101145.
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Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA, Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain. 2020 01 01; 143(1):55-68.
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Qiao C, Richter GT, Pan W, Jin Y, Lin X. Extracranial arteriovenous malformations: from bedside to bench. Mutagenesis. 2019 12 19; 34(4):299-306.
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Maura F, Rustad EH, Yellapantula V, Luksza M, Hoyos D, Maclachlan KH, Diamond BT, Greenbaum BD, Morgan G, Lesokhin A, Papaemmanuil E, Landgren O. Role of AID in the temporal pattern of acquisition of driver mutations in multiple myeloma. Leukemia. 2020 05; 34(5):1476-1480.
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Sridharan A, Schinke CD, Georgiev G, Da Silva Ferreira M, Thiruthuvanathan V, MacArthur I, Bhagat TD, Choudhary GS, Aluri S, Chen J, Pradhan K, Xia Y, Panjikaran M, Sims G, Bhagat CK, Bender R, Keeler L, Graber A, Heuck C, Fletcher FA, Alapat D, Weinhold N, Johnson SK, Wickrema A, Barlogie B, Morgan GJ, Shastri A, Steidl U, Will B, Verma A. Stem cell mutations can be detected in myeloma patients years before onset of secondary leukemias. Blood Adv. 2019 12 10; 3(23):3962-3967.
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Storey AJ, Wang HP, Protacio RU, Davidson MK, Wahls WP. Targeted Forward Genetics: Population-Scale Analyses of Allele Replacements Spanning Thousands of Base Pairs in Fission Yeast. G3 (Bethesda). 2019 12 03; 9(12):4097-4106.
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Ramirez AM, Byrum SD, Beenken KE, Washam C, Edmondson RD, Mackintosh SG, Spencer HJ, Tackett AJ, Smeltzer MS. Exploiting Correlations between Protein Abundance and the Functional Status of saeRS and sarA To Identify Virulence Factors of Potential Importance in the Pathogenesis of Staphylococcus aureus Osteomyelitis. ACS Infect Dis. 2020 02 14; 6(2):237-249.
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Gupta A, Dsouza NR, Zarate YA, Lombardo R, Hopkin R, Linehan AR, Simpson J, McCarrier J, Agre KE, Gavrilova RH, Stephens MC, Grothe RM, Monaghan KG, Xie Y, Basel D, Urrutia RA, Cole CR, Klee EW, Zimmermann MT. Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism. Eur J Med Genet. 2020 Apr; 63(4):103817.
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Patel VL, Busch EL, Friebel TM, Cronin A, Leslie G, McGuffog L, Adlard J, Agata S, Agnarsson BA, Ahmed M, Aittomäki K, Alducci E, Andrulis IL, Arason A, Arnold N, Artioli G, Arver B, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barnes DR, Barroso A, Barrowdale D, Belotti M, Benitez J, Bertelsen B, Blok MJ, Bodrogi I, Bonadona V, Bonanni B, Bondavalli D, Boonen SE, Borde J, Borg A, Bradbury AR, Brady A, Brewer C, Brunet J, Buecher B, Buys SS, Cabezas-Camarero S, Caldés T, Caliebe A, Caligo MA, Calvello M, Campbell IG, Carnevali I, Carrasco E, Chan TL, Chu ATW, Chung WK, Claes KBM, Collaborators GS, Collaborators E, Cook J, Cortesi L, Couch FJ, Daly MB, Damante G, Darder E, Davidson R, de la Hoya M, Puppa LD, Dennis J, Díez O, Ding YC, Ditsch N, Domchek SM, Donaldson A, Dworniczak B, Easton DF, Eccles DM, Eeles RA, Ehrencrona H, Ejlertsen B, Engel C, Evans DG, Faivre L, Faust U, Feliubadaló L, Foretova L, Fostira F, Fountzilas G, Frost D, García-Barberán V, Garre P, Gauthier-Villars M, Géczi L, Gehrig A, Gerdes AM, Gesta P, Giannini G, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gutierrez-Barrera AM, Hahnen E, Hamann U, Hauke J, Herold N, Hogervorst FBL, Honisch E, Hopper JL, Hulick PJ, Investigators K, Investigators H, Izatt L, Jager A, James P, Janavicius R, Jensen UB, Jensen TD, Johannsson OT, John EM, Joseph V, Kang E, Kast K, Kiiski JI, Kim SW, Kim Z, Ko KP, Konstantopoulou I, Kramer G, Krogh L, Kruse TA, Kwong A, Larsen M, Lasset C, Lautrup C, Lazaro C, Lee J, Lee JW, Lee MH, Lemke J, Lesueur F, Liljegren A, Lindblom A, Llovet P, Lopez-Fernández A, Lopez-Perolio I, Lorca V, Loud JT, Ma ESK, Mai PL, Manoukian S, Mari V, Martin L, Matricardi L, Mebirouk N, Medici V, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Miller C, Gomes DM, Montagna M, Mooij TM, Moserle L, Mouret-Fourme E, Mulligan AM, Nathanson KL, Navratilova M, Nevanlinna H, Niederacher D, Nielsen FCC, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Ong KR, Osorio A, Ott CE, Palli D, Park SK, Parsons MT, Pedersen IS, Peissel B, Peixoto A, Pérez-Segura P, Peterlongo P, Petersen AH, Porteous ME, Pujana MA, Radice P, Ramser J, Rantala J, Rashid MU, Rhiem K, Rizzolo P, Robson ME, Rookus MA, Rossing CM, Ruddy KJ, Santos C, Saule C, Scarpitta R, Schmutzler RK, Schuster H, Senter L, Seynaeve CM, Shah PD, Sharma P, Shin VY, Silvestri V, Simard J, Singer CF, Skytte AB, Snape K, Solano AR, Soucy P, Southey MC, Spurdle AB, Steele L, Steinemann D, Stoppa-Lyonnet D, Stradella A, Sunde L, Sutter C, Tan YY, Teixeira MR, Teo SH, Thomassen M, Tibiletti MG, Tischkowitz M, Tognazzo S, Toland AE, Tommasi S, Torres D, Toss A, Trainer AH, Tung N, van Asperen CJ, van der Baan FH, van der Kolk LE, van der Luijt RB, van Hest LP, Varesco L, Varon-Mateeva R, Viel A, Vierstraete J, Villa R, von Wachenfeldt A, Wagner P, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Wieme G, Yadav S, Yannoukakos D, Yoon SY, Zanzottera C, Zorn KK, D'Amico AV, Freedman ML, Pomerantz MM, Chenevix-Trench G, Antoniou AC, Neuhausen SL, Ottini L, Nielsen HR, Rebbeck TR. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness. Cancer Res. 2020 02 01; 80(3):624-638.
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Smith JL, Ries RE, Hylkema T, Alonzo TA, Gerbing RB, Santaguida MT, Eidenschink Brodersen L, Pardo L, Cummings CL, Loeb KR, Le Q, Imren S, Leonti AR, Gamis AS, Aplenc R, Kolb EA, Farrar JE, Triche TJ, Nguyen C, Meerzaman D, Loken MR, Oehler VG, Bolouri H, Meshinchi S. Comprehensive Transcriptome Profiling of Cryptic CBFA2T3-GLIS2 Fusion-Positive AML Defines Novel Therapeutic Options: A COG and TARGET Pediatric AML Study. Clin Cancer Res. 2020 02 01; 26(3):726-737.
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Huang XF, Jian S, Lu JL, Shen KN, Feng J, Zhang CL, Tian Z, Wang JL, Lei WJ, Cao XX, Zhou DB, Liang ZY, Li J. Genomic profiling in amyloid light-chain amyloidosis reveals mutation profiles associated with overall survival. Amyloid. 2020 Mar; 27(1):36-44.
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Kushnir VM, Mullady DK, Das K, Lang G, Hollander TG, Murad FM, Jackson SA, Toney NA, Finkelstein SD, Edmundowicz SA. The Diagnostic Yield of Malignancy Comparing Cytology, FISH, and Molecular Analysis of Cell Free Cytology Brush Supernatant in Patients With Biliary Strictures Undergoing Endoscopic Retrograde Cholangiography (ERC): A Prospective Study. J Clin Gastroenterol. 2019 10; 53(9):686-692.
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Mannan R, Taylor AS, Spratt DE, Chinnaiyan AM, Montgomery JS, Brown NA, Mehra R. TERT- beyond the territory: Usage of PCR-based TERT promoter assay in defining urothelial carcinoma in a case of long-standing prostatic adenocarcinoma. Pathol Res Pract. 2020 Jan; 216(1):152663.
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Zheng G, Richmond A, Liu C, Berrebi A, Pallavajjala A, Haley L, Stone RL, McCarthy E, Vang R, Xing D. Clinicopathologic Features and Genetic Alterations of a Primary Osteosarcoma of the Uterine Corpus. Int J Gynecol Pathol. 2019 Sep; 38(5):414-419.
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Rodriguez FJ, Graham MK, Brosnan-Cashman JA, Barber JR, Davis C, Vizcaino MA, Palsgrove DN, Giannini C, Pekmezci M, Dahiya S, Gokden M, Noë M, Wood LD, Pratilas CA, Morris CD, Belzberg A, Blakeley J, Heaphy CM. Telomere alterations in neurofibromatosis type 1-associated solid tumors. Acta Neuropathol Commun. 2019 08 28; 7(1):139.
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Zhao DD, Zhang L, Li WQ, Duan MH, Zhuang JL, Zhou DB. Well-differentiated systemic mastocytosis with KIT K509I mutation and uterus infiltration in an Asian woman with good response to imatinib. Chin Med J (Engl). 2019 Aug 20; 132(16):2002-2003.
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Goto A, Ishii A, Shibata M, Ihara Y, Cooper EC, Hirose S. Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy. Epilepsia. 2019 09; 60(9):1870-1880.
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Wang H, Diaz AK, Shaw TI, Li Y, Niu M, Cho JH, Paugh BS, Zhang Y, Sifford J, Bai B, Wu Z, Tan H, Zhou S, Hover LD, Tillman HS, Shirinifard A, Thiagarajan S, Sablauer A, Pagala V, High AA, Wang X, Li C, Baker SJ, Peng J. Deep multiomics profiling of brain tumors identifies signaling networks downstream of cancer driver genes. Nat Commun. 2019 08 16; 10(1):3718.
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