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Page 1
Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.
Nicoletti P, Zafer S, Matok L, Irron I, Patrick M, Haklai R, Evangelista JE, Marino GB, Ma'ayan A, Sewda A, Holmes G, Britton SR, Lee WJ, Wu M, Ru Y, Arnaud E, Botto L, Brody LC, Byren JC, Caggana M, Carmichael SL, Cilliers D, Conway K, Crawford K, Cuellar A, Di Rocco F, Engel M, Fearon J, Feldkamp ML, Finnell R, Fisher S, Freudlsperger C, Garcia-Fructuoso G, Hagge R, Heuzé Y, Harshbarger RJ, Hobbs C, Howley M, Jenkins MM, Johnson D, Justice CM, Kane A, Kay D, Gosain AK, Langlois P, Legal-Mallet L, Lin AE, Mills JL, Morton JEV, Noons P, Olshan A, Persing J, Phipps JM, Redett R, Reefhuis J, Rizk E, Samson TD, Shaw GM, Sicko R, Smith N, Staffenberg D, Stoler J, Sweeney E, Taub PJ, Timberlake AT, Topczewska J, Wall SA, Wilson AF, Wilson LC, Boyadjiev SA, Wilkie AOM, Richtsmeier JT, Jabs EW, Romitti PA, Karasik D, Birnbaum RY, Peter I. Nicoletti P, et al. Among authors: timberlake at. Genet Med Open. 2024;2:101851. doi: 10.1016/j.gimo.2024.101851. Epub 2024 May 17. Genet Med Open. 2024. PMID: 39345948 Free PMC article.
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.
Maroofian R, Pagnamenta AT, Navabazam A, Schwessinger R, Roberts HE, Lopopolo M, Dehghani M, Vahidi Mehrjardi MY, Haerian A, Soltanianzadeh M, Noori Kooshki MH, Knight SJL, Miller KA, McGowan SJ, Chatron N, Timberlake AT, Melo US, Mundlos S, Buck D, Twigg SRF, Taylor JC, Wilkie AOM, Calpena E. Maroofian R, et al. Among authors: timberlake at. HGG Adv. 2024 Oct 10;5(4):100352. doi: 10.1016/j.xhgg.2024.100352. Epub 2024 Sep 10. HGG Adv. 2024. PMID: 39257002 Free PMC article.
AXIN1 mutations in nonsyndromic craniosynostosis.
Timberlake AT, Hemal K, Gustafson JA, Hao LT, Valenzuela I, Slavotinek A, Cunningham ML, Kahle KT, Lifton RP, Persing JA. Timberlake AT, et al. J Neurosurg Pediatr. 2024 Jun 21;34(3):246-251. doi: 10.3171/2024.5.PEDS24115. Print 2024 Sep 1. J Neurosurg Pediatr. 2024. PMID: 38905707 Free PMC article.
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: timberlake at. medRxiv [Preprint]. 2024 Jan 26:2024.01.13.24301174. doi: 10.1101/2024.01.13.24301174. medRxiv. 2024. PMID: 38293138 Free PMC article. Preprint.
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS, Miller KA, Swagemakers SMA, Calpena E, McGowan SJ, Boute O, Collet C, Johnson D, Laffargue F, de Leeuw N, Morton JV, Noons P, Ockeloen CW, Phipps JM, Tan TY, Timberlake AT, Vanlerberghe C, Wall SA, Weber A, Wilson LC, Zackai EH, Mathijssen IMJ, Twigg SRF, Wilkie AOM. Tooze RS, et al. Among authors: timberlake at. Genet Med. 2023 Sep;25(9):100883. doi: 10.1016/j.gim.2023.100883. Epub 2023 May 5. Genet Med. 2023. PMID: 37154149 Free PMC article.
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.
Timberlake AT, McGee S, Allington G, Kiziltug E, Wolfe EM, Stiegler AL, Boggon TJ, Sanyoura M, Morrow M, Wenger TL, Fernandes EM, Caluseriu O, Persing JA, Jin SC, Lifton RP, Kahle KT, Kruszka P. Timberlake AT, et al. Am J Hum Genet. 2023 May 4;110(5):846-862. doi: 10.1016/j.ajhg.2023.03.017. Epub 2023 Apr 21. Am J Hum Genet. 2023. PMID: 37086723 Free PMC article.
43 results