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Unravelling the role of SNM1 in the DNA repair system of Trypanosoma brucei.
Sullivan JA, Tong JL, Wong M, Kumar A, Sarkar H, Ali S, Hussein I, Zaman I, Meredith EL, Helsby NA, Hu L, Wilkinson SR. Sullivan JA, et al. Mol Microbiol. 2015 May;96(4):827-38. doi: 10.1111/mmi.12973. Epub 2015 Mar 21. Mol Microbiol. 2015. PMID: 25689597 Free article.
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.
Houdayer C, Phillips AM, Chabbert M, Bourreau J, Maroofian R, Houlden H, Richards K, Saadi NW, Dad'ová E, Van Bogaert P, Rupin M, Keren B, Charles P, Smol T, Riquet A, Pais L, O'Donnell-Luria A, VanNoy GE, Bayat A, Møller RS, Olofsson K, Abou Jamra R, Syrbe S, Dasouki M, Seaver LH, Sullivan JA, Shashi V, Alkuraya FS, Poss AF, Spence JE, Schnur RE, Forster IC, Mckenzie CE, Simons C, Wang M, Snell P, Kothur K, Buckley M, Roscioli T, Elserafy N, Dauriat B, Procaccio V, Henrion D, Lenaers G, Colin E, Verbeek NE, Van Gassen KL, Legendre C, Bonneau D, Reid CA, Howell KB, Ziegler A, Legros C. Houdayer C, et al. Among authors: sullivan ja. medRxiv [Preprint]. 2024 Mar 22:2024.03.19.24303984. doi: 10.1101/2024.03.19.24303984. medRxiv. 2024. PMID: 38562733 Free PMC article. Preprint.
Comparison of RT-PCR and antigen test sensitivity across nasopharyngeal, nares, and oropharyngeal swab, and saliva sample types during the SARS-CoV-2 omicron variant.
Damhorst GL, Lin J, Frediani JK, Sullivan JA, Westbrook A, McLendon K, Baugh TJ, O'Sick WH, Roback JD, Piantadosi AL, Waggoner JJ, Bassit L, Rao A, Greenleaf M, O'Neal JW, Swanson S, Pollock NR, Martin GS, Lam WA, Levy JM. Damhorst GL, et al. Among authors: sullivan ja. Heliyon. 2024 Feb 29;10(6):e27188. doi: 10.1016/j.heliyon.2024.e27188. eCollection 2024 Mar 30. Heliyon. 2024. PMID: 38500996 Free PMC article.
474 results