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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: pettersson m. Genome Med. 2024 Dec 18;16(1):146. doi: 10.1186/s13073-024-01411-7. Genome Med. 2024. PMID: 39696717 Free PMC article.
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, Couse M, Danis D, Demidov G, Dohi E, Erhardsson M, Fernandez-Luna L, Fujiwara T, Garg N, Giugliani R, Gonzaga-Jauregui C, Grigelioniene G, Groza T, Gunnarsson C, Hammarsjö A, Hammond CK, Hatirnaz Ng Ö, Hesketh S, Hettiarachchi D, Johansson Soller M, Kirmani UA, Kjellberg M, Kvarnung M, Kvlividze O, Lagerstedt-Robinson K, Lasko P, Lassmann T, Lau LYS, Laurie S, Lim WK, Liu Z, Lysenkova Wiklander M, Makay P, Maiga AB, Maya-González C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsjö S, Ottosson J, Ozbek U, Özdemir Ö, Partin C, Pearce DA, Peck R, Pedersen A, Pettersson M, Pongpanich M, Posada de la Paz M, Ramani A, Romero JA, Romero VI, Rosenquist R, Saw AM, Spencer M, Stattin EL, Srichomthong C, Tapia-Paez I, Taruscio D, Taylor JP, Tkemaladze T, Tully I, Tümer Z, van Zelst-Stams WAG, Verloes A, Västerviga E, Wang S, Yang R, Yamamoto S, Yépez VA, Zhang Q, Shotelersuk V, Wiafe SA, Alanay Y, Botto LD, Kirmani S, Lumaka A, Palmer EE, Puri RD,… See abstract for full author list ➔ Delgado-Vega AM, et al. Among authors: pettersson m. Nat Genet. 2024 Nov;56(11):2287-2294. doi: 10.1038/s41588-024-01941-1. Nat Genet. 2024. PMID: 39433890 No abstract available.
Evolution of fast-growing piscivorous herring in the young Baltic Sea.
Goodall J, Pettersson ME, Bergström U, Cocco A, Delling B, Heimbrand Y, Karlsson OM, Larsson J, Waldetoft H, Wallberg A, Wennerström L, Andersson L. Goodall J, et al. Among authors: pettersson me. Nat Commun. 2024 Dec 23;15(1):10707. doi: 10.1038/s41467-024-55216-8. Nat Commun. 2024. PMID: 39715744 Free PMC 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: pettersson m. 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.
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.
Kvarnung M, Pettersson M, Chun-On P, Rafati M, McReynolds LJ, Norberg A, Moura PL, Pesonen I, Chaireti R, Grönros Söderholm B, Burlin J, Rydén J, Lindberg EH, Giri N, Savage SA, Agarwal S, Nordgren A, Tesi B. Kvarnung M, et al. Among authors: pettersson m. Eur J Hum Genet. 2024 Nov 30. doi: 10.1038/s41431-024-01722-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39616267
Genetic Stock Identification Reveals Mismatches Between Management Areas and Population Genetic Structure in a Migratory Pelagic Fish.
Seljestad GW, Quintela M, Bekkevold D, Pampoulie C, Farrell ED, Kvamme C, Slotte A, Dahle G, Sørvik AG, Pettersson ME, Andersson L, Folkvord A, Glover KA, Berg F. Seljestad GW, et al. Among authors: pettersson me. Evol Appl. 2024 Oct 24;17(10):e70030. doi: 10.1111/eva.70030. eCollection 2024 Oct. Evol Appl. 2024. PMID: 39464230 Free PMC article.
Induced degradation of SNAP-fusion proteins.
Pol SA, Liljenberg S, Barr J, Simon G, Wong-Dilworth L, Paterson DL, Berishvili VP, Bottanelli F, Kaschani F, Kaiser M, Pettersson M, Hellerschmied D. Pol SA, et al. Among authors: pettersson m. RSC Chem Biol. 2024 Oct 21;5(12):1232-47. doi: 10.1039/d4cb00184b. Online ahead of print. RSC Chem Biol. 2024. PMID: 39444693 Free PMC article.
375 results