 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
|
| 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 |
|---|
| 2025 | 2 | 3 | 5 | | 2024 | 1 | 11 | 12 | | 2023 | 0 | 19 | 19 | | 2022 | 2 | 25 | 27 | | 2021 | 12 | 24 | 36 | | 2020 | 8 | 20 | 28 | | 2019 | 12 | 30 | 42 | | 2018 | 8 | 20 | 28 | | 2017 | 13 | 24 | 37 | | 2016 | 12 | 18 | 30 | | 2015 | 11 | 18 | 29 | | 2014 | 7 | 22 | 29 | | 2013 | 8 | 25 | 33 | | 2012 | 2 | 22 | 24 | | 2011 | 9 | 18 | 27 | | 2010 | 9 | 15 | 24 | | 2009 | 9 | 9 | 18 | | 2008 | 6 | 14 | 20 | | 2007 | 4 | 9 | 13 | | 2006 | 6 | 17 | 23 | | 2005 | 6 | 16 | 22 | | 2004 | 3 | 9 | 12 | | 2003 | 9 | 14 | 23 | | 2002 | 6 | 10 | 16 | | 2001 | 3 | 7 | 10 | | 2000 | 3 | 4 | 7 | | 1999 | 2 | 6 | 8 | | 1998 | 2 | 4 | 6 | | 1997 | 2 | 3 | 5 | | 1996 | 3 | 3 | 6 | | 1995 | 1 | 1 | 2 | | 1994 | 2 | 1 | 3 | | 1993 | 0 | 1 | 1 | | 1992 | 0 | 1 | 1 | | 1990 | 0 | 1 | 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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Alberge JB, Dutta AK, Poletti A, Coorens THH, Lightbody ED, Toenges R, Loinaz X, Wallin S, Dunford A, Priebe O, Dagan J, Boehner CJ, Horowitz E, Su NK, Barr H, Hevenor L, Towle K, Beesam R, Beckwith JB, Perry J, Cordas Dos Santos DM, Bertamini L, Greipp PT, K?bler K, Arndt PF, Terragna C, Zamagni E, Boyle EM, Yong K, Morgan G, Walker BA, Dimopoulos MA, Kastritis E, Hess J, Sklavenitis-Pistofidis R, Stewart C, Getz G, Ghobrial IM. Genomic landscape of multiple myeloma and its precursor conditions. Nat Genet. 2025 Jun; 57(6):1493-1503.
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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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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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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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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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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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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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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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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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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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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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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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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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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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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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Yenwongfai LN, Arora R, Smith AP, Kalfa T, Husami A, Radulescu V, Myers K, Lorsbach R. Pediatric myelofibrosis due to compound heterozygous MPIG6B mutations in a patient of European ancestry. Pediatr Blood Cancer. 2023 03; 70(3):e30023.
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Johann DJ, Shin IJ, Roberge A, Laun S, Peterson EA, Liu M, Steliga MA, Muesse J, Emmert-Buck MR, Tangrea MA. Effect of Antigen Retrieval on Genomic DNA From Immunodissected Samples. J Histochem Cytochem. 2022 09; 70(9):643-658.
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Finkelstein SD, Sistrunk JW, Malchoff C, Thompson DV, Kumar G, Timmaraju VA, Repko B, Mireskandari A, Evoy-Goodman LA, Massoll NA, Lupo MA. A Retrospective Evaluation of the Diagnostic Performance of an Interdependent Pairwise MicroRNA Expression Analysis with a Mutation Panel in Indeterminate Thyroid Nodules. Thyroid. 2022 11; 32(11):1362-1371.
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Pablo-Kaiser A, Tucker MG, Turner GA, Dilday EG, Olmstead AG, Tackett CL, Duina AA. Dominant effects of the histone mutant H3-L61R on Spt16-gene interactions in budding yeast. Epigenetics. 2022 12; 17(13):2347-2355.
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Samanta D, Ramakrishnaiah R, Frye RE. Complex Heterozygous Polymerase Gamma Mutation and Cerebral Folate Deficiency in a Child with Refractory Partial Status. Neurol India. 2022 Sep-Oct; 70(5):2265-2267.
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Mohamed FF, Chavez MB, Huggins S, Bertels J, Falck A, Suva LJ, Foster BL, Gaddy D. Dentoalveolar Defects of Hypophosphatasia are Recapitulated in a Sheep Knock-In Model. J Bone Miner Res. 2022 10; 37(10):2005-2017.
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Guimbellot JS, Ryan KJ, Anderson JD, Parker KL, Victoria Odom L, Rowe SM, Acosta EP. Plasma and cellular ivacaftor concentrations in patients with cystic fibrosis. Pediatr Pulmonol. 2022 11; 57(11):2745-2753.
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Tipton PW, Wierenga KJ, Wszolek ZK. Reply to: "The First Allogeneic Hematopoietic Stem Cell Transplantation in a Polish Patient with Adult-Onset Leukoencephalopathy with Spheroids and Pigmented Glia". Mov Disord. 2022 07; 37(7):1572-1573.
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Sudha P, Ahsan A, Ashby C, Kausar T, Khera A, Kazeroun MH, Hsu CC, Wang L, Fitzsimons E, Salminen O, Blaney P, Czader M, Williams J, Abu Zaid MI, Ansari-Pour N, Yong KL, van Rhee F, Pierceall WE, Morgan GJ, Flynt E, Gooding S, Abonour R, Ramasamy K, Thakurta A, Walker BA. Myeloma Genome Project Panel is a Comprehensive Targeted Genomics Panel for Molecular Profiling of Patients with Multiple Myeloma. Clin Cancer Res. 2022 07 01; 28(13):2854-2864.
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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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ElSheikh RH, Aravindhan A, Boysen S, Veerapandiyan A. Infantile-Onset Complex Hereditary Spastic Paraplegia Due to a Novel Mutation in SPAST Gene. Pediatr Neurol. 2022 09; 134:71.
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Alge JL, Bekheirnia N, Willcockson AR, Qin X, Scherer SE, Braun MC, Bekheirnia MR. Variants in genes coding for collagen type IV a-chains are frequent causes of persistent, isolated hematuria during childhood. Pediatr Nephrol. 2023 03; 38(3):687-695.
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Edelman WC, Kiianitsa K, Virmani T, Martinez RA, Young JE, Keene CD, Bird TD, Raskind WH, Korvatska O. Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations. Parkinsonism Relat Disord. 2022 08; 101:31-38.
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Tu SM, Moran C, Norton W, Zacharias NM. Stem Cell Theory of Cancer: Origin of Metastasis and Sub-clonality. Semin Diagn Pathol. 2023 Jan; 40(1):63-68.
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Wassenaar TM, Wanchai V, Buzard G, Ussery DW. The first three waves of the Covid-19 pandemic hint at a limited genetic repertoire for SARS-CoV-2. FEMS Microbiol Rev. 2022 05 06; 46(3).
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Ghosh RN, Guglani L, Westbrook AL, Mao CY, Bai S, Keens TG, Kasi AS. Impaired ventilation during 6-min?walk test in congenital central hypoventilation syndrome. Pediatr Pulmonol. 2022 07; 57(7):1660-1667.
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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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Singh T, Poterba T, Curtis D, Akil H, Al Eissa M, Barchas JD, Bass N, Bigdeli TB, Breen G, Bromet EJ, Buckley PF, Bunney WE, Bybjerg-Grauholm J, Byerley WF, Chapman SB, Chen WJ, Churchhouse C, Craddock N, Cusick CM, DeLisi L, Dodge S, Escamilla MA, Eskelinen S, Fanous AH, Faraone SV, Fiorentino A, Francioli L, Gabriel SB, Gage D, Gagliano Taliun SA, Ganna A, Genovese G, Glahn DC, Grove J, Hall MH, H?m?l?inen E, Heyne HO, Holi M, Hougaard DM, Howrigan DP, Huang H, Hwu HG, Kahn RS, Kang HM, Karczewski KJ, Kirov G, Knowles JA, Lee FS, Lehrer DS, Lescai F, Malaspina D, Marder SR, McCarroll SA, McIntosh AM, Medeiros H, Milani L, Morley CP, Morris DW, Mortensen PB, Myers RM, Nordentoft M, O'Brien NL, Olivares AM, Ongur D, Ouwehand WH, Palmer DS, Paunio T, Quested D, Rapaport MH, Rees E, Rollins B, Satterstrom FK, Schatzberg A, Scolnick E, Scott LJ, Sharp SI, Sklar P, Smoller JW, Sobell JL, Solomonson M, Stahl EA, Stevens CR, Suvisaari J, Tiao G, Watson SJ, Watts NA, Blackwood DH, B?rglum AD, Cohen BM, Corvin AP, Esko T, Freimer NB, Glatt SJ, Hultman CM, McQuillin A, Palotie A, Pato CN, Pato MT, Pulver AE, St Clair D, Tsuang MT, Vawter MP, Walters JT, Werge TM, Ophoff RA, Sullivan PF, Owen MJ, Boehnke M, O'Donovan MC, Neale BM, Daly MJ. Rare coding variants in ten genes confer substantial risk for schizophrenia. Nature. 2022 04; 604(7906):509-516.
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Alagpulinsa DA, Toribio MP, Alhallak I, Shmookler Reis RJ. Advances in understanding the molecular basis of clonal hematopoiesis. Trends Mol Med. 2022 05; 28(5):360-377.
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Casado-Medrano V, O'Neill A, Halada S, Laetsch TW, Bauer AJ, Franco AT. NTRK-fusions in pediatric thyroid tumors: Current state and future perspectives. Cancer Genet. 2022 06; 264-265:23-28.
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Mansour HA, Chacko JA, Sanders RN, Schaefer GB, Uwaydat SH. Retinal Degeneration Associated With the G1606A Mitochondrial Mutation. Ophthalmic Surg Lasers Imaging Retina. 2022 02; 53(2):116-119.
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Zhang L, Moccia M, Briggs DC, Bharate JB, Lakkaniga NR, Knowles P, Yan W, Tran P, Kharbanda A, Wang X, Leung YK, Frett B, Santoro M, McDonald NQ, Carlomagno F, Li HY. Discovery of N-Trisubstituted Pyrimidine Derivatives as Type I RET and RET Gatekeeper Mutant Inhibitors with a Novel Kinase Binding Pose. J Med Chem. 2022 01 27; 65(2):1536-1551.
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