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[No title available]
[No authors listed] [No authors listed] PMID: 32681147 Free article.
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures.
Grochowski CM, Bengtsson JD, Du H, Gandhi M, Lun MY, Mehaffey MG, Park K, Höps W, Benito-Garagorri E, Hasenfeld P, Korbel JO, Mahmoud M, Paulin LF, Jhangiani SN, Muzny DM, Fatih JM, Gibbs RA, Pendleton M, Harrington E, Juul S, Lindstrand A, Sedlazeck FJ, Pehlivan D, Lupski JR, Carvalho CMB. Grochowski CM, et al. Among authors: pendleton m. bioRxiv [Preprint]. 2023 Oct 3:2023.10.02.560172. doi: 10.1101/2023.10.02.560172. bioRxiv. 2023. PMID: 37873367 Free PMC article. Preprint.
Triglyceride Lowering with Pemafibrate to Reduce Cardiovascular Risk.
Das Pradhan A, Glynn RJ, Fruchart JC, MacFadyen JG, Zaharris ES, Everett BM, Campbell SE, Oshima R, Amarenco P, Blom DJ, Brinton EA, Eckel RH, Elam MB, Felicio JS, Ginsberg HN, Goudev A, Ishibashi S, Joseph J, Kodama T, Koenig W, Leiter LA, Lorenzatti AJ, Mankovsky B, Marx N, Nordestgaard BG, Páll D, Ray KK, Santos RD, Soran H, Susekov A, Tendera M, Yokote K, Paynter NP, Buring JE, Libby P, Ridker PM; PROMINENT Investigators. Das Pradhan A, et al. N Engl J Med. 2022 Nov 24;387(21):1923-1934. doi: 10.1056/NEJMoa2210645. Epub 2022 Nov 5. N Engl J Med. 2022. PMID: 36342113 Clinical Trial.
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
Du H, Jolly A, Grochowski CM, Yuan B, Dawood M, Jhangiani SN, Li H, Muzny D, Fatih JM, Coban-Akdemir Z, Carlin ME, Scheuerle AE, Witzl K, Posey JE, Pendleton M, Harrington E, Juul S, Hastings PJ, Bi W, Gibbs RA, Sedlazeck FJ, Lupski JR, Carvalho CMB, Liu P. Du H, et al. Among authors: pendleton m. Genome Med. 2022 Oct 27;14(1):122. doi: 10.1186/s13073-022-01123-w. Genome Med. 2022. PMID: 36303224 Free PMC article.
Identifying synergistic high-order 3D chromatin conformations from genome-scale nanopore concatemer sequencing.
Deshpande AS, Ulahannan N, Pendleton M, Dai X, Ly L, Behr JM, Schwenk S, Liao W, Augello MA, Tyer C, Rughani P, Kudman S, Tian H, Otis HG, Adney E, Wilkes D, Mosquera JM, Barbieri CE, Melnick A, Stoddart D, Turner DJ, Juul S, Harrington E, Imieliński M. Deshpande AS, et al. Among authors: pendleton m. Nat Biotechnol. 2022 Oct;40(10):1488-1499. doi: 10.1038/s41587-022-01289-z. Epub 2022 May 30. Nat Biotechnol. 2022. PMID: 35637420
61 results