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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.
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Chen CA, Bosch DGM, Cho ScM 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 FPM, 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 BBA, Schaaf C. Chen CA, et al. Among authors: mann j. Genet Med. 2017 Aug;19(8):962. doi: 10.1038/gim.2017.12. Genet Med. 2017. PMID: 28777376 Free article.
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.
Omics approaches to investigate the pathogenesis of suicide.
Boldrini M, Xiao Y, Sing T, Zhu C, Jabbi M, Pantazopoulos H, Gürsoy G, Martinowich K, Punzi G, Vallender EJ, Zody M, Berretta S, Hyde TM, Kleinman JE, Marenco S, Roussos P, Lewis DA, Turecki G, Lehner T, Mann JJ. Boldrini M, et al. Among authors: mann jj. Biol Psychiatry. 2024 May 29:S0006-3223(24)01352-0. doi: 10.1016/j.biopsych.2024.05.017. Online ahead of print. Biol Psychiatry. 2024. PMID: 38821194 Free article. Review.
UCHL1-dependent control of Hypoxia-Inducible Factor Transcriptional Activity during Liver Fibrosis.
Collins A, Scott R, Wilson CL, Abbate G, Ecclestone G, Albanese AG, Biddles D, White S, French J, Moir J, Alrawashdeh W, Wilson C, Pandanaboyana S, Hammond JS, Thakkar R, Oakley F, Mann J, Mann D, Kenneth N. Collins A, et al. Among authors: mann j. Biosci Rep. 2024 May 29:BSR20232147. doi: 10.1042/BSR20232147. Online ahead of print. Biosci Rep. 2024. PMID: 38808772 Free article.
3,965 results