Below are the most recent publications written about "DNA Mutational Analysis" by people in Profiles.
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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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Hann ZS, Ji C, Olsen SK, Lu X, Lux MC, Tan DS, Lima CD. Structural basis for adenylation and thioester bond formation in the ubiquitin E1. Proc Natl Acad Sci U S A. 2019 07 30; 116(31):15475-15484.
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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.
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Te Riele AS, Agullo-Pascual E, James CA, Leo-Macias A, Cerrone M, Zhang M, Lin X, Lin B, Sobreira NL, Amat-Alarcon N, Marsman RF, Murray B, Tichnell C, van der Heijden JF, Dooijes D, van Veen TA, Tandri H, Fowler SJ, Hauer RN, Tomaselli G, van den Berg MP, Taylor MR, Brun F, Sinagra G, Wilde AA, Mestroni L, Bezzina CR, Calkins H, Peter van Tintelen J, Bu L, Delmar M, Judge DP. Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis. Cardiovasc Res. 2017 01; 113(1):102-111.
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Galimberti D, Cioffi SM, Fenoglio C, Serpente M, Oblak AL, Rodriguez-Porcel F, Oldoni E, Hagen MC, Arcaro M, Scarpini E, Ghetti B, Espay AJ. Rapidly progressive primary progressive aphasia and parkinsonism with novel GRN mutation. Mov Disord. 2017 03; 32(3):476-478.