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Page 1
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.
Pehlivan D, Bengtsson JD, Bajikar SS, Grochowski CM, Lun MY, Gandhi M, Jolly A, Trostle AJ, Harris HK, Suter B, Aras S, Ramocki MB, Du H, Mehaffey MG, Park K, Wilkey E, Karakas C, Eisfeldt JJ, Pettersson M, Liu L, Shinawi MS, Kimonis VE, Wiszniewski W, Mckenzie K, Roser T, Vianna-Morgante AM, Cornier AS, Abdelmoity A, Hwang JP, Jhangiani SN, Muzny DM, Mitani T, Muramatsu K, Nabatame S, Glaze DG, Fatih JM, Gibbs RA, Liu Z, Lindstrand A, Sedlazeck FJ, Lupski JR, Zoghbi HY, Carvalho CMB. Pehlivan D, et al. Among authors: lun my. Genome Med. 2024 Dec 18;16(1):146. doi: 10.1186/s13073-024-01411-7. Genome Med. 2024. PMID: 39696717 Free PMC article.
Regulation of sarcomere formation and function in the healthy heart requires a titin intronic enhancer.
Kim Y, Kim SW, Saul D, Neyazi M, Schmid M, Wakimoto H, Slaven N, Lee JH, Layton OG, Wasson LK, Letendre JH, Xiao F, Ewoldt JK, Gkatzis K, Sommer P, Gobert B, Wiest-Daesslé N, McAfee Q, Singhal N, Lun M, Gorham JM, Arany Z, Sharma A, Toepfer CN, Oudit GY, Pu WT, Dickel DE, Pennacchio LA, Visel A, Chen CS, Seidman JG, Seidman CE. Kim Y, et al. Among authors: lun m. J Clin Invest. 2024 Dec 17:e183353. doi: 10.1172/JCI183353. Online ahead of print. J Clin Invest. 2024. PMID: 39688912 Free article.
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements.
Schuy J, Sæther KB, Lisfeld J, Ek M, Grochowski CM, Lun MY, Hastie A, Rudolph S, Fuchs S, Neveling K, Hempel M, Hoischen A, Pettersson M, Carvalho CMB, Eisfeldt J, Lindstrand A. Schuy J, et al. Among authors: lun my. Genet Med Open. 2024 Jun 28;2:101863. doi: 10.1016/j.gimo.2024.101863. eCollection 2024. Genet Med Open. 2024. PMID: 39669604 Free PMC article.
VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data.
Du H, Lun MY, Gagarina L, Mehaffey MG, Hwang JP, Jhangiani SN, Bhamidipati SV, Muzny DM, Poli MC, Ochoa S, Chinn IK, Linstrand A, Posey JE, Gibbs RA, Lupski JR, Carvalho CMB. Du H, et al. Among authors: lun my. bioRxiv [Preprint]. 2024 Oct 29:2024.10.27.620363. doi: 10.1101/2024.10.27.620363. bioRxiv. 2024. PMID: 39553991 Free PMC article. Preprint.
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.
Bilgrav Saether K, Eisfeldt J, Bengtsson JD, Lun MY, Grochowski CM, Mahmoud M, Chao HT, Rosenfeld JA, Liu P, Ek M, Schuy J, Ameur A, Dai H; Undiagnosed Diseases Network; Hwang JP, Sedlazeck FJ, Bi W, Marom R, Wincent J, Nordgren A, Carvalho CMB, Lindstrand A. Bilgrav Saether K, et al. Among authors: lun my. Genome Res. 2024 Nov 20;34(11):1785-1797. doi: 10.1101/gr.279346.124. Genome Res. 2024. PMID: 39486878 Free PMC article.
116 results