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NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Liu S, Aldinger KA, Cheng CV, Kiyama T, Dave M, McNamara HK, Zhao W, Stafford JM, Descostes N, Lee P, Caraffi SG, Ivanovski I, Errichiello E, Zweier C, Zuffardi O, Schneider M, Papavasiliou AS, Perry MS, Humberson J, Cho MT, Weber A, Swale A, Badea TC, Mao CA, Garavelli L, Dobyns WB, Reinberg D. Liu S, et al. Among authors: aldinger ka. Mol Cell. 2021 Nov 18;81(22):4663-4676.e8. doi: 10.1016/j.molcel.2021.09.020. Epub 2021 Oct 11. Mol Cell. 2021. PMID: 34637754 Free PMC article.
Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing.
Bard AM, Clark LV, Cosgun E, Aldinger KA, Timms A, Quina LA, Lavista Ferres JM, Jardine D, Haas EA, Becker TM, Pagan CM, Santani A, Martinez D, Barua S, McNutt Z, Nesbitt A, Mitchell EA, Ramirez JM. Bard AM, et al. Among authors: aldinger ka. medRxiv [Preprint]. 2023 Nov 29:2023.09.11.23295207. doi: 10.1101/2023.09.11.23295207. medRxiv. 2023. PMID: 37745463 Free PMC article. Preprint.
Association and mutation analyses of 16p11.2 autism candidate genes.
Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, Christian SL. Kumar RA, et al. Among authors: aldinger ka. PLoS One. 2009;4(2):e4582. doi: 10.1371/journal.pone.0004582. Epub 2009 Feb 26. PLoS One. 2009. PMID: 19242545 Free PMC article.
Lissencephaly: Expanded imaging and clinical classification.
Di Donato N, Chiari S, Mirzaa GM, Aldinger K, Parrini E, Olds C, Barkovich AJ, Guerrini R, Dobyns WB. Di Donato N, et al. Am J Med Genet A. 2017 Jun;173(6):1473-1488. doi: 10.1002/ajmg.a.38245. Epub 2017 Apr 25. Am J Med Genet A. 2017. PMID: 28440899 Free PMC article.
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczałuba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Center for Mendelian Genomics at the Broad Institute of MIT and Harvard; Engle EC, Verheijen FW, Doherty D, Mancini GMS. Dobyns WB, et al. Among authors: aldinger ka. Am J Hum Genet. 2018 Dec 6;103(6):1009-1021. doi: 10.1016/j.ajhg.2018.10.019. Epub 2018 Nov 21. Am J Hum Genet. 2018. PMID: 30471716 Free PMC article.
87 results