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ACTA2-Related Dysgyria: An Under-Recognized Malformation of Cortical Development.
Subramanian S, Biswas A, Alves CAPF, Sudhakar SV, Shekdar KV, Krishnan P, Shroff M, Taranath A, Arrigoni F, Aldinger KA, Leventer RJ, Dobyns WB, Mankad K. Subramanian S, et al. Among authors: aldinger ka. AJNR Am J Neuroradiol. 2022 Jan;43(1):146-150. doi: 10.3174/ajnr.A7364. Epub 2021 Dec 2. AJNR Am J Neuroradiol. 2022. PMID: 34857515 Free PMC article.
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. Vong KI, et al. Among authors: aldinger ka. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583 Free PMC article.
Early rhombic lip Protogenin+ve stem cells in a human-specific neurovascular niche initiate and maintain group 3 medulloblastoma.
Visvanathan A, Saulnier O, Chen C, Haldipur P, Orisme W, Delaidelli A, Shin S, Millman J, Bryant A, Abeysundara N, Wu X, Hendrikse LD, Patil V, Bashardanesh Z, Golser J, Livingston BG, Nakashima T, Funakoshi Y, Ong W, Rasnitsyn A, Aldinger KA, Richman CM, Van Ommeren R, Lee JJY, Ly M, Vladoiu MC, Kharas K, Balin P, Erickson AW, Fong V, Zhang J, Suárez RA, Wang H, Huang N, Pallota JG, Douglas T, Haapasalo J, Razavi F, Silvestri E, Sirbu O, Worme S, Kameda-Smith MM, Wu X, Daniels C, MichaelRaj AK, Bhaduri A, Schramek D, Suzuki H, Garzia L, Ahmed N, Kleinman CL, Stein LD, Dirks P, Dunham C, Jabado N, Rich JN, Li W, Sorensen PH, Wechsler-Reya RJ, Weiss WA, Millen KJ, Ellison DW, Dimitrov DS, Taylor MD. Visvanathan A, et al. Among authors: aldinger ka. Cell. 2024 Aug 22;187(17):4733-4750.e26. doi: 10.1016/j.cell.2024.06.011. Epub 2024 Jul 5. Cell. 2024. PMID: 38971152 Free PMC article.
A group 3 medulloblastoma stem cell program is maintained by OTX2-mediated alternative splicing.
Saulnier O, Zagozewski J, Liang L, Hendrikse LD, Layug P, Gordon V, Aldinger KA, Haldipur P, Borlase S, Coudière-Morrison L, Cai T, Martell E, Gonzales NM, Palidwor G, Porter CJ, Richard S, Sharif T, Millen KJ, Doble BW, Taylor MD, Werbowetski-Ogilvie TE. Saulnier O, et al. Among authors: aldinger ka. Nat Cell Biol. 2024 Aug;26(8):1233-1246. doi: 10.1038/s41556-024-01460-5. Epub 2024 Jul 18. Nat Cell Biol. 2024. PMID: 39025928 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. Update in: Am J Med Genet A. 2024 Nov;194(11):e63596. doi: 10.1002/ajmg.a.63596. PMID: 37745463 Free PMC article. Updated. Preprint.
93 results