Below are the most recent publications written about "DNA Copy Number Variations" by people in Profiles.
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Di Cosimo S, Silvestri M, De Marco C, Calzoni A, De Santis MC, Carnevale MG, Reduzzi C, Cristofanilli M, Cappelletti V. Low-pass whole genome sequencing of circulating tumor cells to evaluate chromosomal instability in triple-negative breast cancer. Sci Rep. 2024 09 03; 14(1):20479.
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Asadi-Pooya AA, Hallett M, Mirzaei Damabi N, Fazelian Dehkordi K. Genetics of Functional Seizures; A Scoping Systematic Review. Genes (Basel). 2023 07 27; 14(8).
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Davis AA, Gerratana L, Clifton K, Medford AJ, Velimirovic M, Hensing WL, Bucheit L, Shah AN, D'Amico P, Reduzzi C, Zhang Q, Dai CS, Denault EN, Bagegni NA, Opyrchal M, Ademuyiwa FO, Bose R, Gradishar WJ, Behdad A, Ma CX, Bardia A, Cristofanilli M. Circulating tumour DNA characterisation of invasive lobular carcinoma in patients with metastatic breast cancer. EBioMedicine. 2022 Dec; 86:104316.
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Almeida LS, Pereira C, Aanicai R, Schr?der S, Bochinski T, Kaune A, Urzi A, Spohr TCLS, Viceconte N, Oppermann S, Alasel M, Ebadat S, Iftikhar S, Jasinge E, Elsayed SM, Tomoum H, Marzouk I, Jalan AB, Cerkauskaite A, Cerkauskiene R, Tkemaladze T, Nadeem AM, El Din Mahmoud IG, Mossad FA, Kamel M, Selim LA, Cheema HA, Paknia O, Cozma C, Juaristi-Manrique C, Guatibonza-Moreno P, B?ttcher T, Vogel F, Pinto-Basto J, Bertoli-Avella A, Bauer P. An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients. Eur J Hum Genet. 2022 09; 30(9):1029-1035.
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Andrews JM, Pyfrom SC, Schmidt JA, Koues OI, Kowalewski RA, Grams NR, Sun JJ, Berman LR, Duncavage EJ, Lee YS, Cashen AF, Oltz EM, Payton JE. Loss of synergistic transcriptional feedback loops drives diverse B-cell cancers. EBioMedicine. 2021 Sep; 71:103559.
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Jiang L, Lin R, Gallagher S, Zayac A, Butchbach MER, Hung P. Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument. Sci Rep. 2020 11 16; 10(1):19892.
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Nees SN, Chung WK. Genetic Basis of Human Congenital Heart Disease. Cold Spring Harb Perspect Biol. 2020 09 01; 12(9).
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Milman T, Ida CM, Zhang PJL, Eagle RC. Gene Fusions in Ocular Adnexal Tumors. Am J Ophthalmol. 2021 01; 221:211-225.
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Tester DJ, Bombei HM, Fitzgerald KK, Giudicessi JR, Pitel BA, Thorland EC, Russell BG, Hamrick SK, Kim CSJ, Haglund-Turnquist CM, Johnsrude CL, Atkins DL, Ochoa Nunez LA, Law I, Temple J, Ackerman MJ. Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community. JAMA Cardiol. 2020 03 01; 5(3):13-18.
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Froukh T, Nafie O, Al Hait SAS, Laugwitz L, Sommerfeld J, Sturm M, Baraghiti A, Issa T, Al-Nazer A, Koch PA, Hanselmann J, Kootz B, Bauer P, Al-Ameri W, Abou Jamra R, Alfrook AJ, Hamadallah M, Sofan L, Riess A, Haack TB, Riess O, Buchert R. Genetic basis of neurodevelopmental disorders in 103 Jordanian families. Clin Genet. 2020 04; 97(4):621-627.