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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
Accelerating Medicines Partnership® Schizophrenia (AMP® SCZ): Rationale and Study Design of the Largest Global Prospective Cohort Study of Clinical High Risk for Psychosis.
Wannan CMJ, Nelson B, Addington J, Allott K, Anticevic A, Arango C, Baker JT, Bearden CE, Billah T, Bouix S, Broome MR, Buccilli K, Cadenhead KS, Calkins ME, Cannon TD, Cecci G, Chen EYH, Cho KIK, Choi J, Clark SR, Coleman MJ, Conus P, Corcoran CM, Cornblatt BA, Diaz-Caneja CM, Dwyer D, Ebdrup BH, Ellman LM, Fusar-Poli P, Galindo L, Gaspar PA, Gerber C, Glenthøj LB, Glynn R, Harms MP, Horton LE, Kahn RS, Kambeitz J, Kambeitz-Ilankovic L, Kane JM, Kapur T, Keshavan MS, Kim SW, Koutsouleris N, Kubicki M, Kwon JS, Langbein K, Lewandowski KE, Light GA, Mamah D, Marcy PJ, Mathalon DH, McGorry PD, Mittal VA, Nordentoft M, Nunez A, Pasternak O, Pearlson GD, Perez J, Perkins DO, Powers AR 3rd, Roalf DR, Sabb FW, Schiffman J, Shah JL, Smesny S, Spark J, Stone WS, Strauss GP, Tamayo Z, Torous J, Upthegrove R, Vangel M, Verma S, Wang J, Rossum IW, Wolf DH, Wolff P, Wood SJ, Yung AR, Agurto C, Alvarez-Jimenez M, Amminger P, Armando M, Asgari-Targhi A, Cahill J, Carrión RE, Castro E, Cetin-Karayumak S, Mallar Chakravarty M, Cho YT, Cotter D, D'Alfonso S, Ennis M, Fadnavis S, Fonteneau C, Gao C, Gupta T, Gur RE, Gur RC, Hamilton HK, Hoftman GD, Jacobs GR, Jarcho J, Ji JL, Kohler CG, Lalousis PA… See abstract for full author list ➔ Wannan CMJ, et al. Among authors: nicholas sc. Schizophr Bull. 2024 Apr 30;50(3):496-512. doi: 10.1093/schbul/sbae011. Schizophr Bull. 2024. PMID: 38451304 Free PMC article.
Development and validation of quantitative PCR assays for HIV-associated cryptococcal meningitis in sub-Saharan Africa: a diagnostic accuracy study.
Mbangiwa T, Sturny-Leclère A, Lechiile K, Kajanga C, Boyer-Chammard T, Hoving JC, Leeme T, Moyo M, Youssouf N, Lawrence DS, Mwandumba H, Mosepele M, Harrison TS, Jarvis JN, Lortholary O, Alanio A; AMBITION Study Group. Mbangiwa T, et al. Lancet Microbe. 2024 Mar;5(3):e261-e271. doi: 10.1016/S2666-5247(23)00362-2. Epub 2024 Feb 8. Lancet Microbe. 2024. PMID: 38342110 Free PMC article.
670 results