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Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.
Rosenfeld JA, Stephens LE, Coppinger J, Ballif BC, Hoo JJ, French BN, Banks VC, Smith WE, Manchester D, Tsai AC, Merrion K, Mendoza-Londono R, Dupuis L, Schultz R, Torchia B, Sahoo T, Bejjani B, Weaver DD, Shaffer LG. Rosenfeld JA, et al. Among authors: tsai ac. Eur J Hum Genet. 2011 May;19(5):547-54. doi: 10.1038/ejhg.2010.237. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248749 Free PMC article.
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJ, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB. Curry CJ, et al. Among authors: tsai ac. Am J Med Genet A. 2013 Aug;161A(8):1833-52. doi: 10.1002/ajmg.a.35996. Epub 2013 Jun 27. Am J Med Genet A. 2013. PMID: 23813913 Free PMC article.
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. Johnston JJ, et al. Among authors: tsai ac. Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328. Hum Mutat. 2010. PMID: 20672375 Free PMC article.
Intersectional stigma and the non-communicable disease syndemic in the context of HIV: protocol for a multisite, observational study in the USA.
Friedman MR, Badri S, Bowleg L, Haberlen SA, Jones DL, Kempf MC, Konkle-Parker D, Kwait J, Martinson J, Mimiaga MJ, Plankey MW, Stosor V, Tsai AC, Turan JM, Ware D, Wu K. Friedman MR, et al. Among authors: tsai ac. BMJ Open. 2024 Apr 25;14(4):e075368. doi: 10.1136/bmjopen-2023-075368. BMJ Open. 2024. PMID: 38670612 Free PMC article.
Setting research priorities for global pandemic preparedness: An international consensus and comparison with ChatGPT's output.
Song P, Adeloye D, Acharya Y, Bojude DA, Ali S, Alibudbud R, Bastien S, Becerra-Posada F, Berecki M, Bodomo A, Borrescio-Higa F, Buchtova M, Campbell H, Chan KY, Cheema S, Chopra M, Cipta DA, Castro LD, Ganasegeran K, Gebre T, Glasnović A, Graham CJ, Igwesi-Chidobe C, Iversen PO, Jadoon B, Lanza G, Macdonald C, Park C, Islam MM, Mshelia S, Nair H, Ng ZX, Htay MNN, Akinyemi KO, Parisi M, Patel S, Peprah P, Polasek O, Riha R, Rotarou ES, Sacks E, Sharov K, Stankov S, Supriyatiningsih W, Sutan R, Tomlinson M, Tsai AC, Tsimpida D, Vento S, Glasnović JV, Vokey LBV, Wang L, Wazny K, Xu J, Yoshida S, Zhang Y, Cao J, Zhu Y, Sheikh A, Rudan I; International Society of Global Health (ISoGH). Song P, et al. Among authors: tsai ac. J Glob Health. 2024 Feb 16;14:04054. doi: 10.7189/jogh.14.04054. J Glob Health. 2024. PMID: 38386716 Free PMC article.
Protecting and promoting editorial independence.
Bhui K, O'Brien A, Upthegrove R, Tsai AC, Soomro M, Newton-Howes G, Broome MR, Forrester A, Casey P, Doherty AM, Lee W, Kaufman KR. Bhui K, et al. Among authors: tsai ac. Br J Psychiatry. 2024 Feb 15:1-3. doi: 10.1192/bjp.2024.6. Online ahead of print. Br J Psychiatry. 2024. PMID: 38356355
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Küry S, Stanton JE, van Woerden G, Hsieh TC, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel F, Möller S, Florenceau L, Cuinat S, Marsac S, Wentzensen I, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter M, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson L, Costin C, Jobling RK, Pappas J, Rabin R, Niyazov D, Tsai AC, Kovak K, Beck DB, Malicdan M, Adams DR, Wolfe L, Ganetzky RD, Muraresku C, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Al Saif H, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton M, Bryson L, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Jurgensmeyer S, McRae AM, Lessard MK, D'Agostino MD, De Bi… See abstract for full author list ➔ Küry S, et al. Among authors: tsai ac. medRxiv [Preprint]. 2024 Jan 26:2024.01.13.24301174. doi: 10.1101/2024.01.13.24301174. medRxiv. 2024. PMID: 38293138 Free PMC article. Preprint.
554 results