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Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.
Pierson TM, Adams DA, Markello T, Golas G, Yang S, Sincan M, Simeonov DR, Fuentes Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Teer JK, Mullikin JC; NISC Comparative Sequencing Program; Boerkoel CF, Gahl WA, Tifft CJ. Pierson TM, et al. Among authors: adams da. Neurology. 2012 Jul 10;79(2):123-6. doi: 10.1212/WNL.0b013e31825f047a. Epub 2012 Jun 6. Neurology. 2012. PMID: 22675082 Free PMC article.
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.
Pierson TM, Simeonov DR, Sincan M, Adams DA, Markello T, Golas G, Fuentes-Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Mullikin JC, Blackstone C, Tifft C, Boerkoel CF, Gahl WA; NISC Comparative Sequencing Program. Pierson TM, et al. Among authors: adams da. Eur J Hum Genet. 2012 Apr;20(4):476-9. doi: 10.1038/ejhg.2011.222. Epub 2011 Dec 7. Eur J Hum Genet. 2012. PMID: 22146942 Free PMC article.
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.
Reuter CM, Kohler JN, Bonner D, Zastrow D, Fernandez L, Dries A, Marwaha S, Davidson J, Brokamp E, Herzog M, Hong J, Macnamara E, Rosenfeld JA, Schoch K, Spillmann R; Undiagnosed Diseases Network; Loscalzo J, Krier J, Stoler J, Sweetser D, Palmer CGS, Phillips JA, Shashi V, Adams DA, Yang Y, Ashley EA, Fisher PG, Mulvihill JJ, Bernstein JA, Wheeler MT. Reuter CM, et al. Among authors: adams da. J Genet Couns. 2019 Dec;28(6):1107-1118. doi: 10.1002/jgc4.1161. Epub 2019 Sep 3. J Genet Couns. 2019. PMID: 31478310 Free PMC article.
Accelerated protein retention expansion microscopy using microwave radiation.
Bullard MR, Cervantes JCM, Quaicoe NB, Jin A, Adams DA, Lin JM, Iliadis E, Seidler TM, Cervantes-Sandoval I, He HY. Bullard MR, et al. Among authors: adams da. bioRxiv [Preprint]. 2024 May 12:2024.05.11.593228. doi: 10.1101/2024.05.11.593228. bioRxiv. 2024. PMID: 38766072 Free PMC article. Preprint.
Summary of Notifiable Infectious Diseases and Conditions - United States, 2015.
Adams DA, Thomas KR, Jajosky RA, Foster L, Baroi G, Sharp P, Onweh DH, Schley AW, Anderson WJ; Nationally Notifiable Infectious Conditions Group. Adams DA, et al. MMWR Morb Mortal Wkly Rep. 2017 Aug 11;64(53):1-143. doi: 10.15585/mmwr.mm6453a1. MMWR Morb Mortal Wkly Rep. 2017. PMID: 28796757 Free article.
Summary of Notifiable Infectious Diseases and Conditions - United States, 2014.
Adams DA, Thomas KR, Jajosky RA, Foster L, Sharp P, Onweh DH, Schley AW, Anderson WJ; Nationally Notifiable Infectious Conditions Group. Adams DA, et al. MMWR Morb Mortal Wkly Rep. 2016 Oct 14;63(54):1-152. doi: 10.15585/mmwr.mm6354a1. MMWR Morb Mortal Wkly Rep. 2016. PMID: 27736829 Free article.
112 results