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Page 1
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Küry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denommé-Pichon AS, Cogné B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Õunap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Bréhéret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Pérez-Peña H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martínez F, Bézieau S, Kahle KT, Isidor B. Küry S, et al. Among authors: kundishora aj. Genet Med. 2022 Sep;24(9):1941-1951. doi: 10.1016/j.gim.2022.05.009. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35678782 Free article.
Genomic alterations underlying spinal metastases in pediatric H3K27M-mutant pineal parenchymal tumor of intermediate differentiation: case report.
Fomchenko EI, Erson-Omay EZ, Kundishora AJ, Hong CS, Daniel AA, Allocco A, Duy PQ, Darbinyan A, Marks AM, DiLuna ML, Kahle KT, Huttner A. Fomchenko EI, et al. Among authors: kundishora aj. J Neurosurg Pediatr. 2019 Oct 25;25(2):121-130. doi: 10.3171/2019.8.PEDS18664. Print 2020 Feb 1. J Neurosurg Pediatr. 2019. PMID: 31653819
Novel EWSR1-VGLL1 fusion in a pediatric neuroepithelial neoplasm.
Kundishora AJ, Reeves BC, Nelson-Williams C, Hong CS, Gopal PP, Snuderl M, Kahle KT, Erson-Omay EZ. Kundishora AJ, et al. Clin Genet. 2020 May;97(5):791-792. doi: 10.1111/cge.13703. Epub 2020 Jan 16. Clin Genet. 2020. PMID: 31925773 No abstract available.
Risk Factors for the Development of Post-Traumatic Hydrocephalus in Children.
Elsamadicy AA, Koo AB, Lee V, David WB, Zogg CK, Kundishora AJ, Hong CS, DeSpenza T, Reeve BC, DiLuna M, Kahle KT. Elsamadicy AA, et al. Among authors: kundishora aj. World Neurosurg. 2020 Sep;141:e105-e111. doi: 10.1016/j.wneu.2020.04.216. Epub 2020 May 7. World Neurosurg. 2020. PMID: 32389871 Free PMC article.
71 results