 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
|
| 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 |
|---|
| 2025 | 3 | 3 | 6 | | 2024 | 3 | 16 | 19 | | 2023 | 0 | 26 | 26 | | 2022 | 3 | 39 | 42 | | 2021 | 15 | 32 | 47 | | 2020 | 14 | 32 | 46 | | 2019 | 15 | 42 | 57 | | 2018 | 16 | 34 | 50 | | 2017 | 16 | 36 | 52 | | 2016 | 18 | 32 | 50 | | 2015 | 17 | 32 | 49 | | 2014 | 11 | 29 | 40 | | 2013 | 12 | 34 | 46 | | 2012 | 8 | 30 | 38 | | 2011 | 15 | 23 | 38 | | 2010 | 16 | 18 | 34 | | 2009 | 12 | 14 | 26 | | 2008 | 10 | 19 | 29 | | 2007 | 6 | 14 | 20 | | 2006 | 7 | 22 | 29 | | 2005 | 7 | 23 | 30 | | 2004 | 6 | 15 | 21 | | 2003 | 10 | 17 | 27 | | 2002 | 8 | 22 | 30 | | 2001 | 3 | 10 | 13 | | 2000 | 4 | 7 | 11 | | 1999 | 4 | 8 | 12 | | 1998 | 2 | 5 | 7 | | 1997 | 3 | 4 | 7 | | 1996 | 3 | 6 | 9 | | 1995 | 1 | 1 | 2 | | 1994 | 2 | 3 | 5 | | 1993 | 0 | 1 | 1 | | 1992 | 0 | 1 | 1 | | 1991 | 1 | 1 | 2 | | 1990 | 1 | 1 | 2 |
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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Shah MV, Hung K, Baranwal A, Wechalekar G, Al-Kali A, Toop CR, Greipp P, Kutyna MM, Matin A, Ladon D, Saliba A, Chen D, Begna K, Brown A, Rud D, Litzow MR, Hogan WJ, Bardy P, Badar T, Kumar S, Yeung DT, Patnaik MM, Foran JM, He R, Gangat N, Hefazi M, Scott HS, Arana Yi CY, Alkhateeb H, Mangaonkar AA, Thomas D, Hahn CN, Orazi A, Arber DA, Kok CH, Tefferi A, Hiwase D. Validation of the 5th edition of the World Health Organization and International Consensus Classification guidelines for TP53-mutated myeloid neoplasm in an independent international cohort. Blood Cancer J. 2025 May 07; 15(1):88.
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Wu H, Tran KA, Gawey L, Stokes M, Hekmatjah J, Kincannon J. Novel Compound Heterozygous Mutations in ILNEB Syndrome. Australas J Dermatol. 2025 May; 66(3):e167-e170.
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von Itzstein MS, Burns TF, Dowell JE, Horn L, Camidge DR, York SJ, Eaton KD, Kyle K, Fattah F, Liu J, Mu-Mosley H, Gupta A, Nadeem U, Gao A, Zhang S, Gerber DE. Phase I/II Trial of Exportin 1 Inhibitor Selinexor plus Docetaxel in Previously Treated, Advanced KRAS-Mutant Non-Small Cell Lung Cancer. Clin Cancer Res. 2025 Feb 17; 31(4):639-648.
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West KL, Nguyen TTN, Tengler KA, Kreiling N, Raney KD, Ghosal G, Leung JW. Autophosphorylation of the Tousled-like kinases TLK1 and TLK2 regulates recruitment to damaged chromatin via PCNA interaction. Nucleic Acids Res. 2025 Feb 08; 53(4).
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Boysen G, Alexandrov LB, Rahbari R, Nookaew I, Ussery D, Chao MR, Hu CW, Cooke MS. Investigating the origins of the mutational signatures in cancer. Nucleic Acids Res. 2025 Jan 07; 53(1).
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Lee JJY, Tao R, You Z, Haldipur P, Erickson AW, Farooq H, Hendriske LD, Abeysundara N, Richman CM, Wang EY, Das Gupta N, Hadley J, Batts M, Mount CW, Wu X, Rasnitsyn A, Bailey S, Cavalli FMG, Morrissy S, Garzia L, Michealraj KA, Visvanathan A, Fong V, Palotta J, Suarez R, Livingston BG, Liu M, Luu B, Daniels C, Loukides J, Bendel A, French PJ, Kros JM, Korshunov A, Kool M, Chico Ponce de Le?n F, Perezpe?a-Diazconti M, Lach B, Singh SK, Leary SES, Cho BK, Kim SK, Wang KC, Lee JY, Tominaga T, Weiss WA, Phillips JJ, Dai S, Zadeh G, Saad AG, Bogn?r L, Klekner A, Pollack IF, Hamilton RL, Ra YS, Grajkowska WA, Perek-Polnik M, Thompson RC, Kenney AM, Cooper MK, Mack SC, Jabado N, Lupien M, Gallo M, Ramaswamy V, Suva ML, Suzuki H, Millen KJ, Huang LF, Northcott PA, Taylor MD. ZIC1 is a context-dependent medulloblastoma driver in the rhombic lip. Nat Genet. 2025 Jan; 57(1):88-102.
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Morgan GJ, Nau AN, Wong S, Spencer BH, Shen Y, Hua A, Bullard MJ, Sanchorawala V, Prokaeva T. An updated AL-base reveals ranked enrichment of immunoglobulin light chain variable genes in AL amyloidosis. Amyloid. 2025 Jun; 32(2):129-138.
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Kjeldsen MK, J?rgensen M, Gr?nseth DSB, Sch?nemann-Lund M, Nyvang GB, Haslund CA, Knudsen AO, Motavaf AK, Malander S, Anttila M, Lindahl G, M?enp?? J, Dimoula M, Werner TL, Iversen TZ, Hietanen S, Fokdal L, Dahlstrand H, Bj?rge L, Birrer MJ, Mirza MR, Rossing M. Beyond HRD Status: Unraveling Genetic Variants Impacting PARP Inhibitor Sensitivity in Advanced Ovarian Cancer. Cancer Res Commun. 2024 12 01; 4(12):3190-3200.
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Beenken KE, Campbell MJ, Smeltzer MS. The ability of sarA to limit protease production plays a key role in the pathogenesis of Staphylococcus aureus osteomyelitis irrespective of the functional status of agr. Infect Immun. 2025 Jan 31; 93(1):e0047324.
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Collu R, Zarate YA, Xia W, Fish JL. Individuals with SATB2-associated syndrome have impaired vitamin and energy metabolism pathways. Metab Brain Dis. 2024 Nov 14; 40(1):3.
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Kazandjian D, Diamond B, Papadimitriou M, Hill E, Sklavenitis-Pistofidis R, Ziccheddu B, Blaney P, Chojnacka M, Durante M, Maclachlan K, Young R, Usmani S, Davies F, Getz G, Ghobrial I, Korde N, Morgan G, Maura F, Landgren O. Genomic Profiling to Contextualize the Results of Intervention for Smoldering Multiple Myeloma. Clin Cancer Res. 2024 Oct 01; 30(19):4482-4490.
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Rai V, Singh M, Holthoff JH. New Mutation Associated with Polycystic Kidney Disease Type I: A Case Report. Genes (Basel). 2024 Sep 27; 15(10).
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Zhang W, Lee A, Tiwari AK, Yang MQ. Characterizing the Tumor Microenvironment and Its Prognostic Impact in Breast Cancer. Cells. 2024 09 10; 13(18).
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Ibrahim M, Murphree C, Patel K, Mastrodomenico M, Saba NS, Safah H, Schmid J, Socola F. Programmed death-ligand 1 expression in patients with primary or secondary myelofibrosis. Cancer Rep (Hoboken). 2024 Sep; 7(9):e2054.
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Blue EE, Moore KJ, North KE, Desrosiers TA, Carmichael SL, White JJ, Chong JX, Bamshad MJ, Jenkins MM, Almli LM, Brody LC, Freedman SF, Reefhuis J, Romitti PA, Shaw GM, Werler M, Kay DM, Browne ML, Feldkamp ML, Finnell RH, Nembhard WN, Pangilinan F, Olshan AF. Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study. Birth Defects Res. 2024 Jul; 116(7):e2384.
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Gao J, Proffitt DR, Marecki JC, Protacio RU, Wahls WP, Byrd AK, Raney KD. Two residues in the DNA binding site of Pif1 helicase are essential for nuclear functions but dispensable for mitochondrial respiratory growth. Nucleic Acids Res. 2024 Jun 24; 52(11):6543-6557.
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Leighl NB, Akamatsu H, Lim SM, Cheng Y, Minchom AR, Marmarelis ME, Sanborn RE, Chih-Hsin Yang J, Liu B, John T, Massut? B, Spira AI, Lee SH, Wang J, Li J, Liu C, Novello S, Kondo M, Tamiya M, Korbenfeld E, Moskovitz M, Han JY, Alexander M, Joshi R, Felip E, Voon PJ, Danchaivijitr P, Hsu PC, Silva Melo Cruz FJ, Wehler T, Greillier L, Teixeira E, Nguyen D, Sabari JK, Qin A, Kowalski D, Sendur MAN, Xie J, Ghosh D, Alhadab A, Haddish-Berhane N, Clemens PL, Lorenzini P, Verheijen RB, Gamil M, Bauml JM, Baig M, Passaro A. Subcutaneous Versus Intravenous Amivantamab, Both in Combination With Lazertinib, in Refractory Epidermal Growth Factor Receptor-Mutated Non-Small Cell Lung Cancer: Primary Results From the Phase III PALOMA-3 Study. J Clin Oncol. 2024 Oct 20; 42(30):3593-3605.
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Johnson TS, Sudha P, Liu E, Becker N, Robertson S, Blaney P, Morgan G, Chopra VS, Dos Santos C, Nixon M, Huang K, Suvannasankha A, Zaid MA, Abonour R, Walker BA. 1q amplification and PHF19 expressing high-risk cells are associated with relapsed/refractory multiple myeloma. Nat Commun. 2024 May 16; 15(1):4144.
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Maura F, Coffey DG, Stein CK, Braggio E, Ziccheddu B, Sharik ME, Du MT, Tafoya Alvarado Y, Shi CX, Zhu YX, Meermeier EW, Morgan GJ, Landgren O, Bergsagel PL, Chesi M. The genomic landscape of Vk*MYC myeloma highlights shared pathways of transformation between mice and humans. Nat Commun. 2024 May 07; 15(1):3844.
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Bellone S, Jeong K, Halle MK, Krakstad C, McNamara B, Greenman M, Mutlu L, Demirkiran C, Hartwich TMP, Yang-Hartwich Y, Zipponi M, Buza N, Hui P, Raspagliesi F, Lopez S, Paolini B, Milione M, Perrone E, Scambia G, Altwerger G, Ravaggi A, Bignotti E, Huang GS, Andikyan V, Clark M, Ratner E, Azodi M, Schwartz PE, Quick CM, Angioli R, Terranova C, Zaidi S, Nandi S, Alexandrov LB, Siegel ER, Choi J, Schlessinger J, Santin AD. Integrated mutational landscape analysis of poorly differentiated high-grade neuroendocrine carcinoma of the uterine cervix. Proc Natl Acad Sci U S A. 2024 Apr 23; 121(17):e2321898121.
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Wolfe AR, Feng H, Zuniga O, Rodrigues H, Eldridge DE, Yang L, Shen C, Williams TM. RAS-RAF-miR-296-3p signaling axis increases Rad18 expression to augment radioresistance in pancreatic and thyroid cancers. Cancer Lett. 2024 Jun 01; 591:216873.
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Cournoyer E, Ferrell J, Sharp S, Ray A, Jordan M, Dandoy C, Grimley M, Roy S, Lorsbach R, Merrow AC, Nelson A, Bartlett A, Picarsic J, Kumar A. Dabrafenib and trametinib in Langerhans cell histiocytosis and other histiocytic disorders. Haematologica. 2024 04 01; 109(4):1137-1148.
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Ercan AB, Aronson M, Fernandez NR, Chang Y, Levine A, Liu ZA, Negm L, Edwards M, Bianchi V, Stengs L, Chung J, Al-Battashi A, Reschke A, Lion A, Ahmad A, Lassaletta A, Reddy AT, Al-Darraji AF, Shah AC, Van Damme A, Bendel A, Rashid A, Margol AS, Kelly BL, Pencheva B, Heald B, Lemieux-Anglin B, Crooks B, Koschmann C, Gilpin C, Porter CC, Gass D, Samuel D, Ziegler DS, Blumenthal DT, Kuo DJ, Hamideh D, Basel D, Khuong-Quang DA, Stearns D, Opocher E, Carceller F, Baris Feldman H, Toledano H, Winer I, Scheers I, Fedorakova I, Su JM, Vengoechea J, Sterba J, Knipstein J, Hansford JR, Gonzales-Santos JR, Bhatia K, Bielamowicz KJ, Minhas K, Nichols KE, Cole KA, Penney L, Hjort MA, Sabel M, Gil-da-Costa MJ, Murray MJ, Miller M, Blundell ML, Massimino M, Al-Hussaini M, Al-Jadiry MF, Comito MA, Osborn M, Link MP, Zapotocky M, Ghalibafian M, Shaheen N, Mushtaq N, Waespe N, Hijiya N, Fuentes-Bolanos N, Ahmad O, Chamdine O, Roy P, Pichurin PN, Nyman P, Pearlman R, Auer RC, Sukumaran RK, Kebudi R, Dvir R, Raphael R, Elhasid R, McGee RB, Chami R, Noss R, Tanaka R, Raskin S, Sen S, Lindhorst S, Perreault S, Caspi S, Riaz S, Constantini S, Albert S, Chaleff S, Bielack S, Chiaravalli S, Cramer SL, Roy S, Cahn S, Penna S, Hamid SA, Ghafoor T, Imam U, Larouche V, Magimairajan Issai V, Foulkes WD, Lee YY, Nathan PC, Maruvka YE, Greer MC, Durno C, Shlien A, Ertl-Wagner B, Villani A, Malkin D, Hawkins C, Bouffet E, Das A, Tabori U. Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study. Lancet Oncol. 2024 May; 25(5):668-682.
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Halani V, Sharayah A, Beck B, Patolia S. "New Targets in Non-Small-Cell Lung Cancer"-RET, HER2, and KRAS. Am J Respir Crit Care Med. 2024 03 15; 209(6):748-750.
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Cornejo KM, Hutchinson L, O'Donnell P, Meng X, Tomaszewicz K, Shalin SC, Cassarino DS, Chan MP, Quinn TR, Googe PB, Nazarian RM. Molecular Profiling of Syringocystadenocarcinoma Papilliferum Reveals RAS-Activating Mutations. Arch Pathol Lab Med. 2024 Feb 01; 148(2):215-222.
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Yu N, Raslan OA, Lee HS, Theeler BJ, Raafat TA, Fragoso R, Shahlaie K, Aboud O. Promising response to vemurafenib and cobimetinib treatment for BRAF V600E mutated craniopharyngioma: a case report and literature review. CNS Oncol. 2024 01 01; 13(1):CNS106.
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Samanta D. Chance Bias Arising from TSC2 Mutation Imbalance in the PREVeNT Trial. Ann Neurol. 2024 Feb; 95(2):413-414.
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Campbell MJ, Beenken KE, Ramirez AM, Smeltzer MS. The major role of sarA in limiting Staphylococcus aureus extracellular protease production in vitro is correlated with decreased virulence in diverse clinical isolates in osteomyelitis. Virulence. 2023 12; 14(1):2175496.
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Li C, Liu Z, Anderson J, Liu Z, Tang L, Li Y, Peng N, Chen J, Liu X, Fu L, Townes TM, Rowe SM, Bedwell DM, Guimbellot J, Zhao R. Prime editing-mediated correction of the CFTR W1282X mutation in iPSCs and derived airway epithelial cells. PLoS One. 2023; 18(11):e0295009.
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Wang X, DeFilippis RA, Weldemichael T, Gunaganti N, Tran P, Leung YK, Shah NP, Li HY. An imidazo[1,2-a]pyridine-pyridine derivative potently inhibits FLT3-ITD and FLT3-ITD secondary mutants, including gilteritinib-resistant FLT3-ITD/F691L. Eur J Med Chem. 2024 Jan 15; 264:115977.
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Wang X, DeFilippis RA, Leung YK, Shah NP, Li HY. N-(3-Methoxyphenyl)-6-(7-(1-methyl-1H-pyrazol-4-yl)imidazo[1,2-a]pyridin-3-yl)pyridin-2-amine is an inhibitor of the FLT3-ITD and BCR-ABL pathways, and potently inhibits FLT3-ITD/D835Y and FLT3-ITD/F691L secondary mutants. Bioorg Chem. 2024 02; 143:106966.
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Poos AM, Prokoph N, Przybilla MJ, Mallm JP, Steiger S, Seufert I, John L, Tirier SM, Bauer K, Baumann A, Rohleder J, Munawar U, Rasche L, Kort?m KM, Giesen N, Reichert P, Huhn S, M?ller-Tidow C, Goldschmidt H, Stegle O, Raab MS, Rippe K, Weinhold N. Resolving therapy resistance mechanisms in multiple myeloma by multiomics subclone analysis. Blood. 2023 11 09; 142(19):1633-1646.
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Zbieranski N, Insuasti-Beltran G. Analytical Validation of an Automated Semiconductor-Based Next-Generation Sequencing Assay for Detection of DNA and RNA Alterations in Myeloid Neoplasms. J Mol Diagn. 2024 01; 26(1):29-36.
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Chaudhri EN, Abbott JM, Islam NN, Weber CA, Coban MA, Bilgili A, Squire JD, Mantia S, Wierenga KJ, Caulfield TR. Statistical Mechanics Metrics in Pairing and Parsing In Silico and Phenotypic Data of a Novel Genetic NF?B1 (c.T638A) Variant. Genes (Basel). 2023 09 24; 14(10).
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Jia Q, Zhang X, Liu Q, Li J, Wang W, Ma X, Zhu B, Li S, Gong S, Tian J, Yuan M, Zhao Y, Zhou DX. A DNA adenine demethylase impairs PRC2-mediated repression of genes marked by a specific chromatin signature. Genome Biol. 2023 08 30; 24(1):198.
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Wongsurawat T, Jenjaroenpun P, Anekwiang P, Arigul T, Thongrattana W, Jamshidi-Parsian A, Boysen G, Suriyaphol P, Suktitipat B, Srirabheebhat P, Cheunsuchon P, Tanboon J, Nookaew I, Sathornsumetee S. Exploiting nanopore sequencing for characterization and grading of IDH-mutant gliomas. Brain Pathol. 2024 01; 34(1):e13203.
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Rachapudi SS, Charoenkijkajorn C, Pakravan M, Lee AG. Prothrombin 20210A mutation in acute posterior cerebral artery infarction and branch retinal vein occlusion. Can J Ophthalmol. 2023 12; 58(6):e259-e262.
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Bertrums EJM, Smith JL, Harmon L, Ries RE, Wang YJ, Alonzo TA, Menssen AJ, Chisholm KM, Leonti AR, Tarlock K, Ostronoff F, Pogosova-Agadjanyan EL, Kaspers GJL, Hasle H, Dworzak M, Walter C, Muhlegger N, Morerio C, Pardo L, Hirsch B, Raimondi S, Cooper TM, Aplenc R, Gamis AS, Kolb EA, Farrar JE, Stirewalt D, Ma X, Shaw TI, Furlan SN, Brodersen LE, Loken MR, Van den Heuvel-Eibrink MM, Zwaan CM, Triche TJ, Goemans BF, Meshinchi S. Comprehensive molecular and clinical characterization of NUP98 fusions in pediatric acute myeloid leukemia. Haematologica. 2023 08 01; 108(8):2044-2058.
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Staedtke V, Topilko P, Le LQ, Grimes K, Largaespada DA, Cagan RL, Steensma MR, Stemmer-Rachamimov A, Blakeley JO, Rhodes SD, Ly I, Romo CG, Lee SY, Serra E. Existing and Developing Preclinical Models for Neurofibromatosis Type 1-Related Cutaneous Neurofibromas. J Invest Dermatol. 2023 08; 143(8):1378-1387.
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Gushue C, Eisner M, Bai S, Johnson T, Holtzlander M, McCoy K, Sheikh S. Impact of Elexacaftor-Tezacaftor-Ivacaftor on lung disease in cystic fibrosis. Pediatr Pulmonol. 2023 Aug; 58(8):2308-2316.
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Maraqah HH, Abu-Asab MS, Lee HS, Aboud O. Astrocytoma and glioblastoma IDH1-wildtype cells colonize tumor vessels and deploy vascular mimicry. Ultrastruct Pathol. 2023 Jul 04; 47(4):253-260.
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Turkkahraman H, Flanagan S, Zhu T, Bellido TM, Yuan X. The LRP5 high-bone-mass mutation causes alveolar bone accrual with minor craniofacial alteration. J Periodontal Res. 2023 Aug; 58(4):723-732.
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Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, G??wein S, Di Donato N, Bertini ES, Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Am J Hum Genet. 2023 05 04; 110(5):774-789.
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Schuberth K, Ramani PK, Beemarajan E, Veerapandiyan A. Child Neurology: KMT2B-Related Dystonia in a Young Child With Worsening Gait Abnormality. Neurology. 2023 08 15; 101(7):328-332.
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Zhang S, Shrestha CL, Robledo-Avila F, Jaganathan D, Wisniewski BL, Brown N, Pham H, Carey K, Amer AO, Hall-Stoodley L, McCoy KS, Bai S, Partida-Sanchez S, Kopp BT. Cystic fibrosis macrophage function and clinical outcomes after elexacaftor/tezacaftor/ivacaftor. Eur Respir J. 2023 04; 61(4).
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Maclachlan KH, Bagratuni T, Kastritis E, Ziccheddu B, Lu S, Yellapantula V, Famulare C, Argyropoulos K, Derkach A, Papaemmanuil E, Dogan A, Lesokhin A, Usmani SZ, Landgren CO, Palomba LM, Maura F, Dimopoulos MA. Waldenstr?m macroglobulinemia whole genome reveals prolonged germinal center activity and late copy number aberrations. Blood Adv. 2023 03 28; 7(6):971-981.
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Yu N, Lee HS, Raslan OA, Jin LW, Aboud O. H3G34-mutant diffuse hemispheric glioma with osseous metastases: a case report and literature review. CNS Oncol. 2023 06 01; 12(2):CNS95.
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Khan S, Budamagunta V, Zhou D. Targeting KRAS in pancreatic cancer: Emerging therapeutic strategies. Adv Cancer Res. 2023; 159:145-184.
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Bui CM, Pukhalskaya T, Smoller BR, Zengin HB, Heneidi S, Vail E, Makhoul E, Balzer B. Two distinct pathogenic pathways of digital papillary adenocarcinoma - BRAF mutation or low-risk HPV infection. J Cutan Pathol. 2023 Jun; 50(6):568-576.
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Hiwase D, Hahn C, Tran ENH, Chhetri R, Baranwal A, Al-Kali A, Sharplin K, Ladon D, Hollins R, Greipp P, Kutyna M, Alkhateeb H, Badar T, Wang P, Ross DM, Singhal D, Shanmuganathan N, Bardy P, Beligaswatte A, Yeung D, Litzow MR, Mangaonkar A, Giri P, Lee C, Yong A, Horvath N, Singhal N, Gowda R, Hogan W, Gangat N, Patnaik M, Begna K, Tiong IS, Wei A, Kumar S, Brown A, Scott H, Thomas D, Kok CH, Tefferi A, Shah MV. TP53 mutation in therapy-related myeloid neoplasm defines a distinct molecular subtype. Blood. 2023 03 02; 141(9):1087-1091.
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Ahuja P, Sharifi A, Pakravan M, Schefler AC, Lee AG. Hydroxychloroquine toxicity unmasking an occult retinitis pigmentosa carrier. Can J Ophthalmol. 2023 08; 58(4):e179-e181.
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Ricarte-Filho JC, Casado-Medrano V, Reichenberger E, Spangler Z, Scheerer M, Isaza A, Baran J, Patel T, MacFarland SP, Brodeur GM, Stewart DR, Baloch Z, Bauer AJ, Wasserman JD, Franco AT. DICER1 RNase IIIb domain mutations trigger widespread miRNA dysregulation and MAPK activation in pediatric thyroid cancer. Front Endocrinol (Lausanne). 2023; 14:1083382.
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Farrar JE, Smith JL, Othus M, Huang BJ, Wang YC, Ries R, Hylkema T, Pogosova-Agadjanyan EL, Challa S, Leonti A, Shaw TI, Triche TJ, Gamis AS, Aplenc R, Kolb EA, Ma X, Stirewalt DL, Alonzo TA, Meshinchi S. Long Noncoding RNA Expression Independently Predicts Outcome in Pediatric Acute Myeloid Leukemia. J Clin Oncol. 2023 06 01; 41(16):2949-2962.
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Ganne A, Balasubramaniam M, Ayyadevara H, Kiaei L, Shmookler Reis RJ, Varughese KI, Kiaei M. In silico analysis of TUBA4A mutations in Amyotrophic Lateral Sclerosis to define mechanisms of microtubule disintegration. Sci Rep. 2023 02 06; 13(1):2096.
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McCoy KS, Blind J, Johnson T, Olson P, Raterman L, Bai S, Eisner M, Sheikh SI, Druhan S, Young C, Pasley K. Clinical change 2 years from start of elexacaftor-tezacaftor-ivacaftor in severe cystic fibrosis. Pediatr Pulmonol. 2023 04; 58(4):1178-1184.
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Al-Ghamdi YA, Lake J, Bagg A, Thakral B, Wang SA, Bueso-Ramos C, Masarova L, Verstovsek S, Rogers HJ, Hsi ED, Gralewski JH, Chabot-Richards D, George TI, Rets A, Hasserjian RP, Weinberg OK, Parilla M, Arber DA, Padilla O, Orazi A, Tam W. Triple-Negative Primary Myelofibrosis: A Bone Marrow Pathology Group Study. Mod Pathol. 2023 03; 36(3):100016.
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Clinton TN, Chen Z, Wise H, Lenis AT, Chavan S, Donoghue MTA, Almassi N, Chu CE, Dason S, Rao P, Rodrigues JA, Vasani NB, Ridouani F, Rosenberg JE, Bajorin DF, Teo MY, Bochner BH, Berger MF, Ostrovnaya I, Pietzak EJ, Iyer G, Gao SP, Hu W, Al-Ahmadie HA, Solit DB. Genomic heterogeneity as a barrier to precision oncology in urothelial cancer. Cell Rep. 2022 12 20; 41(12):111859.
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Samanta D. GRIN2A-related epilepsy and speech disorders: A comprehensive overview with a focus on the role of precision therapeutics. Epilepsy Res. 2023 01; 189:107065.
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Guimbellot JS, Nichols DP, Brewington JJ. Novel Applications of Biomarkers and Personalized Medicine in Cystic Fibrosis. Clin Chest Med. 2022 12; 43(4):617-630.
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Jee J, Lebow ES, Yeh R, Das JP, Namakydoust A, Paik PK, Chaft JE, Jayakumaran G, Rose Brannon A, Benayed R, Zehir A, Donoghue M, Schultz N, Chakravarty D, Kundra R, Madupuri R, Murciano-Goroff YR, Tu HY, Xu CR, Martinez A, Wilhelm C, Galle J, Daly B, Yu HA, Offin M, Hellmann MD, Lito P, Arbour KC, Zauderer MG, Kris MG, Ng KK, Eng J, Preeshagul I, Victoria Lai W, Fiore JJ, Iqbal A, Molena D, Rocco G, Park BJ, Lim LP, Li M, Tong-Li C, De Silva M, Chan DL, Diakos CI, Itchins M, Clarke S, Pavlakis N, Lee A, Rekhtman N, Chang J, Travis WD, Riely GJ, Solit DB, Gonen M, Rusch VW, Rimner A, Gomez D, Drilon A, Scher HI, Shah SP, Berger MF, Arcila ME, Ladanyi M, Levine RL, Shen R, Razavi P, Reis-Filho JS, Jones DR, Rudin CM, Isbell JM, Li BT. Overall survival with circulating tumor DNA-guided therapy in advanced non-small-cell lung cancer. Nat Med. 2022 11; 28(11):2353-2363.
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