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Page 1
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene.
Ganesh VS, Riquin K, Chatron N, Yoon E, Lamar KM, Aziz MC, Monin P, O'Leary MC, Goodrich JK, Garimella KV, England E, Weisburd B, Aguet F, Bacino CA, Murdock DR, Dai H, Rosenfeld JA, Emrick LT, Ketkar S, Sarusi Y, Sanlaville D, Kayani S, Broadbent B, Pengam A, Isidor B, Bezieau S, Cogné B, MacArthur DG, Ulitsky I, Carvill GL, O'Donnell-Luria A. Ganesh VS, et al. Among authors: lamar km. N Engl J Med. 2024 Oct 24;391(16):1511-1518. doi: 10.1056/NEJMoa2400718. N Engl J Med. 2024. PMID: 39442041
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA.
Ganesh VS, Riquin K, Chatron N, Lamar KM, Aziz MC, Monin P, O'Leary M, Goodrich JK, Garimella KV, England E, Yoon E, Weisburd B, Aguet F, Bacino CA, Murdock DR, Dai H, Rosenfeld JA, Emrick LT, Ketkar S; Undiagnosed Diseases Network; Sarusi Y, Sanlaville D, Kayani S, Broadbent B, Isidor B, Pengam A, Cogné B, MacArthur DG, Ulitsky I, Carvill GL, O'Donnell-Luria A. Ganesh VS, et al. Among authors: lamar km. medRxiv [Preprint]. 2024 Feb 7:2024.01.31.24301497. doi: 10.1101/2024.01.31.24301497. medRxiv. 2024. PMID: 38496558 Free PMC article. Preprint.
Genetic Modifiers for Neuromuscular Diseases.
Lamar KM, McNally EM. Lamar KM, et al. J Neuromuscul Dis. 2014;1(1):3-13. doi: 10.3233/JND-140023. J Neuromuscul Dis. 2014. PMID: 25729645 Free PMC article.
Coordinate regulation of ELF5 and EHF at the chr11p13 CF modifier region.
Swahn H, Sabith Ebron J, Lamar KM, Yin S, Kerschner JL, NandyMazumdar M, Coppola C, Mendenhall EM, Leir SH, Harris A. Swahn H, et al. Among authors: lamar km. J Cell Mol Med. 2019 Nov;23(11):7726-7740. doi: 10.1111/jcmm.14646. Epub 2019 Sep 26. J Cell Mol Med. 2019. PMID: 31557407 Free PMC article.
12 results