Below are the most recent publications written about "DNA Mutational Analysis" by people in Profiles.
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Zhang XH, Wei H, Xia Y, Morad M. Calcium signaling consequences of RyR2 mutations associated with CPVT1 introduced via CRISPR/Cas9 gene editing in human-induced pluripotent stem cell-derived cardiomyocytes: Comparison of RyR2-R420Q, F2483I, and Q4201R. Heart Rhythm. 2021 02; 18(2):250-260.
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Hirschhorn JW, Snider JS, Lindsey KG, Schandl CA. Molecular profiling of vitreous fluid by massively parallel sequencing: a case series. J Am Soc Cytopathol. 2020 Jul - Aug; 9(4):254-257.
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Lowe S, Bhat KP, Olar A. Current clinical management of patients with glioblastoma. Cancer Rep (Hoboken). 2019 12; 2(6):e1216.
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Solanki AK, Widmeier E, Arif E, Sharma S, Daga A, Srivastava P, Kwon SH, Hugo H, Nakayama M, Mann N, Majmundar AJ, Tan W, Gee HY, Sadowski CE, Rinat C, Becker-Cohen R, Bergmann C, Rosen S, Somers M, Shril S, Huber TB, Mane S, Hildebrandt F, Nihalani D. Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. Kidney Int. 2019 10; 96(4):883-889.
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Longo JF, Weber SM, Turner-Ivey BP, Carroll SL. Recent Advances in the Diagnosis and Pathogenesis of Neurofibromatosis Type 1 (NF1)-associated Peripheral Nervous System Neoplasms. Adv Anat Pathol. 2018 Sep; 25(5):353-368.
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Brown KL, Flume PA. Pediatric and Adult Recommendations Vary for Sibling Testing in Cystic Fibrosis. J Genet Couns. 2018 09; 27(5):1049-1054.
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Witzel M, Petersheim D, Fan Y, Bahrami E, Racek T, Rohlfs M, Puchalka J, Mertes C, Gagneur J, Ziegenhain C, Enard W, Stray-Pedersen A, Arkwright PD, Abboud MR, Pazhakh V, Lieschke GJ, Krawitz PM, Dahlhoff M, Schneider MR, Wolf E, Horny HP, Schmidt H, Schäffer AA, Klein C. Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. Nat Genet. 2017 May; 49(5):742-752.
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Morales C, Li Z. Drosophila canopy b is a cochaperone of glycoprotein 93. J Biol Chem. 2017 04 21; 292(16):6657-6666.
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Banister CE, Liu C, Pirisi L, Creek KE, Buckhaults PJ. Identification and characterization of HPV-independent cervical cancers. Oncotarget. 2017 Feb 21; 8(8):13375-13386.
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Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN. Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. J Mol Diagn. 2017 01; 19(1):4-23.