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Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, Marcelis C, Baysal Ö, Hartwich D, Holthöfer L, Isidor B, Cogne B, Wieczorek D, Capra V, Scala M, De Marco P, Ognibene M, Jamra RA, Platzer K, Carter LB, Kuismin O, van Haeringen A, Maroofian R, Valenzuela I, Cuscó I, Martinez-Agosto JA, Rabani AM, Mefford HC, Pereira EM, Close C, Anyane-Yeboa K, Wagner M, Hannibal MC, Zacher P, Thiffault I, Beunders G, Umair M, Bhola PT, McGinnis E, Millichap J, van de Kamp JM, Prijoles EJ, Dobson A, Shillington A, Graham BH, Garcia EJ, Galindo MK, Ropers FG, Nibbeling EAR, Hubbard G, Karimov C, Goj G, Bend R, Rath J, Morrow MM, Millan F, Salpietro V, Torella A, Nigro V, Kurki M, Stevenson RE, Santen GWE, Zweier M, Campeau PM, Severino M, Reis A, Accogli A, Vasileiou G. Bosch E, et al. Among authors: mcginnis e. Genet Med. 2023 Nov;25(11):100950. doi: 10.1016/j.gim.2023.100950. Epub 2023 Aug 5. Genet Med. 2023. PMID: 37551667 Free article.
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures.
Lu S, Hernan R, Marcogliese PC, Huang Y, Gertler TS, Akcaboy M, Liu S, Chung HL, Pan X, Sun X, Oguz MM, Oztoprak U, de Baaij JHF, Ivanisevic J, McGinnis E, Guillen Sacoto MJ, Chung WK, Bellen HJ. Lu S, et al. Among authors: mcginnis e. Am J Hum Genet. 2022 Apr 7;109(4):571-586. doi: 10.1016/j.ajhg.2022.01.020. Epub 2022 Mar 2. Am J Hum Genet. 2022. PMID: 35240055 Free PMC article.
A Pilot Randomized Controlled Trial of the Family Assessment and Feedback Intervention (FAFI): Effects on Mental Health Literacy and Attitudinal Engagement with Health Supports and Services.
Ivanova MY, Hall A, Weinberger S, Buckingham SL, Copeland WE, Crockett P, Dainer-Best J, D'Alberto C, Dewey L, Foret D, Galano M, Goodrich L, Holly L, Lane NE, Leahy M, Lerner M, Marsh J, McGinnis EW, Paiva-Salisbury M, Shaw JS, Swift P, Tinker R, Hudziak JJ. Ivanova MY, et al. Among authors: mcginnis ew. Child Psychiatry Hum Dev. 2024 May 25. doi: 10.1007/s10578-024-01707-0. Online ahead of print. Child Psychiatry Hum Dev. 2024. PMID: 38796676
Predicting stress in first-year college students using sleep data from wearable devices.
Bloomfield LSP, Fudolig MI, Kim J, Llorin J, Lovato JL, McGinnis EW, McGinnis RS, Price M, Ricketts TH, Dodds PS, Stanton K, Danforth CM. Bloomfield LSP, et al. Among authors: mcginnis ew. PLOS Digit Health. 2024 Apr 11;3(4):e0000473. doi: 10.1371/journal.pdig.0000473. eCollection 2024 Apr. PLOS Digit Health. 2024. PMID: 38602898 Free PMC article.
155 results