Below are the most recent publications written about "DNA Mutational Analysis" by people in Profiles.
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Heath Jeffery RC, Thompson JA, Lo J, Chelva ES, Armstrong S, Pulido JS, Procopio R, Vincent AL, Bianco L, Battaglia Parodi M, Ziccardi L, Antonelli G, Barbano L, Marques JP, Geada S, Carvalho AL, Tang WC, Chan CM, Boon CJF, Hensman J, Chen TC, Lin CY, Chen PL, Vincent A, Tumber A, Heon E, Grigg JR, Jamieson RV, Cornish EE, Nash BM, Borooah S, Ayton LN, Britten-Jones AC, Edwards TL, Ruddle JB, Sharma A, Porter RG, Lamey TM, McLaren TL, McLenachan S, Roshandel D, Chen FK. Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients. Invest Ophthalmol Vis Sci. 2024 May 01; 65(5):22.
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Jimenez HJ, Procopio RA, Thuma TBT, Marra MH, Izquierdo N, Klufas MA, Nagiel A, Pennesi ME, Pulido JS. Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series. Int J Mol Sci. 2022 Nov 01; 23(21).
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van der Ende SR, Meyers BS, Capasso JE, Sasongko M, Yonekawa Y, Pihlblad M, Huey J, Bedoukian EC, Krantz ID, Ngo MH, McMaster CR, Levin AV, Robitaille JM. Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4. JAMA Ophthalmol. 2022 09 01; 140(9):889-893.
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Chlopek M, Lasota J, Thompson LDR, Szczepaniak M, Kuzniacka A, Hincza K, Kubicka K, Kaczorowski M, Newford M, Liu Y, Agaimy A, Biernat W, Durzynska M, Dziuba I, Hartmann A, Inaguma S, Izycka-Swieszewska E, Kato H, Kopczynski J, Michal M, Michal M, Peksa R, Prochorec-Sobieszek M, Starzynska A, Takahashi S, Wasag B, Kowalik A, Miettinen M. Alterations in key signaling pathways in sinonasal tract melanoma. A molecular genetics and immunohistochemical study of 90 cases and comprehensive review of the literature. Mod Pathol. 2022 11; 35(11):1609-1617.
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Solomon DA, Ramani B, Eiger-Moscovich M, Milman T, Uludag G, Crawford JB, Phan I, Char DH, Shields CL, Eagle RC, Bastian BC, Bloomer MM, Pekmezci M. Iris and Ciliary Body Melanocytomas Are Defined by Solitary GNAQ Mutation Without Additional Oncogenic Alterations. Ophthalmology. 2022 12; 129(12):1429-1439.
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Lu HY, Sertori R, Contreras AV, Hamer M, Messing M, Del Bel KL, Lopez-Rangel E, Chan ES, Rehmus W, Milner JD, McNagny KM, Lehman A, Wiest DL, Turvey SE. A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation. Front Immunol. 2021; 12:788278.
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Fisk JN, Mahal AR, Dornburg A, Gaffney SG, Aneja S, Contessa JN, Rimm D, Yu JB, Townsend JP. Premetastatic shifts of endogenous and exogenous mutational processes support consolidative therapy in EGFR-driven lung adenocarcinoma. Cancer Lett. 2022 02 01; 526:346-351.
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Biswas P, Villanueva AL, Soto-Hermida A, Duncan JL, Matsui H, Borooah S, Kurmanov B, Richard G, Khan SY, Branham K, Huang B, Suk J, Bakall B, Goldberg JL, Gabriel L, Khan NW, Raghavendra PB, Zhou J, Devalaraja S, Huynh A, Alapati A, Zawaydeh Q, Weleber RG, Heckenlively JR, Hejtmancik JF, Riazuddin S, Sieving PA, Riazuddin SA, Frazer KA, Ayyagari R. Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis. PLoS Genet. 2021 10; 17(10):e1009848.
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Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J, Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. Am J Hum Genet. 2021 07 01; 108(7):1330-1341.
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Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Sa?d S, Condroyer C, Antonio A, K?hlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I. CNGB1-related rod-cone dystrophy: A mutation review and update. Hum Mutat. 2021 06; 42(6):641-666.