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141 results

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Page 1
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Yépez VA, et al. Among authors: smith nh. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. Genome Med. 2022. PMID: 35379322 Free PMC article.
NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling.
Hanssen F, Gabernet G, Bäuerle F, Stöcker B, Wiegand F, Smith NH, Mertes C, Neogi AG, Brandhoff L, Ossowski A, Altmueller J, Becker K, Petzold A, Sturm M, Stöcker T, Sivalingam S, Brand F, Schmidt A, Buness A, Probst AJ, Motameny S, Köster J. Hanssen F, et al. Among authors: smith nh. F1000Res. 2024 Sep 12;12:1125. doi: 10.12688/f1000research.140344.1. eCollection 2023. F1000Res. 2024. PMID: 39345270 Free PMC article.
Viral genome sequencing to decipher in-hospital SARS-CoV-2 transmission events.
Esser E, Schulte EC, Graf A, Karollus A, Smith NH, Michler T, Dvoretskii S, Angelov A, Sonnabend M, Peter S, Engesser C, Radonic A, Thürmer A, von Kleist M, Gebhardt F, da Costa CP, Busch DH, Muenchhoff M, Blum H, Keppler OT, Gagneur J, Protzer U. Esser E, et al. Among authors: smith nh. Sci Rep. 2024 Mar 8;14(1):5768. doi: 10.1038/s41598-024-56162-7. Sci Rep. 2024. PMID: 38459123 Free PMC article.
Overexpression of Igf2-derived Mir483 inhibits Igf1 expression and leads to developmental growth restriction and metabolic dysfunction in mice.
Sandovici I, Fernandez-Twinn DS, Campbell N, Cooper WN, Sekita Y, Zvetkova I, Ferland-McCollough D, Prosser HM, Oyama LM, Pantaleão LC, Cimadomo D, Barbosa de Queiroz K, Cheuk CSK, Smith NM, Kay RG, Antrobus R, Hoelle K, Ma MKL, Smith NH, Geyer SH, Reissig LF, Weninger WJ, Siddle K, Willis AE, Lam BYH, Bushell M, Ozanne SE, Constância M. Sandovici I, et al. Among authors: smith nh. Cell Rep. 2024 Sep 24;43(9):114750. doi: 10.1016/j.celrep.2024.114750. Epub 2024 Sep 15. Cell Rep. 2024. PMID: 39283743 Free article.
Long-term complications in classic galactosemia are not progressive.
Smith NH, Hendrickson ET, Garrett OS, Chernoff RA, Orloff DH, Druss JJ, Stettner NM, Paull NH, Fridovich-Keil JL. Smith NH, et al. Mol Genet Metab. 2023 Nov;140(3):107708. doi: 10.1016/j.ymgme.2023.107708. Epub 2023 Oct 11. Mol Genet Metab. 2023. PMID: 37866059 Free PMC article.
141 results