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DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, Wiśniowiecka-Kowalnik B, Fox M, Deignan JL, Vilain E, Hendricks E, Horton Harr M, Noon SE, Jackson JR, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai EH, Krantz I, Innes AM, Nelson SF, Grody WW, Quintero-Rivera F. Ji J, et al. Among authors: mann j. Eur J Hum Genet. 2015 Nov;23(11):1473-81. doi: 10.1038/ejhg.2015.71. Epub 2015 May 6. Eur J Hum Genet. 2015. PMID: 25944381 Free PMC article.
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C. Chen CA, et al. Among authors: mann j. Genet Med. 2016 Nov;18(11):1143-1150. doi: 10.1038/gim.2016.18. Epub 2016 Mar 17. Genet Med. 2016. PMID: 26986877 Free article.
Correction: Social connectedness as a determinant of mental health: A scoping review.
Wickramaratne PJ, Yangchen T, Lepow L, Patra BG, Glicksberg BS, Talati A, Adekkanattu P, Ryu E, Biernacka JM, Charney A, Mann JJ, Pathak J, Olfson M, Weissman MM. Wickramaratne PJ, et al. Among authors: mann jj. PLoS One. 2024 Nov 15;19(11):e0314220. doi: 10.1371/journal.pone.0314220. eCollection 2024. PLoS One. 2024. PMID: 39546492 Free PMC article.
Neuroinflammation, Stress-Related Suicidal Ideation, and Negative Mood in Depression.
Herzog S, Bartlett EA, Zanderigo F, Galfalvy HC, Burke A, Mintz A, Schmidt M, Hauser E, Huang YY, Melhem N, Sublette ME, Miller JM, Mann JJ. Herzog S, et al. Among authors: mann jj. JAMA Psychiatry. 2024 Nov 6:e243543. doi: 10.1001/jamapsychiatry.2024.3543. Online ahead of print. JAMA Psychiatry. 2024. PMID: 39504032
4,026 results