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Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P. Fotiou E, et al. Among authors: snyder mp. Nat Commun. 2015 Sep 3;6:8085. doi: 10.1038/ncomms9085. Nat Commun. 2015. PMID: 26333996 Free PMC article.
Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P. Fotiou E, et al. Among authors: snyder mp. Nat Commun. 2019 Apr 26;10(1):1951. doi: 10.1038/s41467-019-09905-4. Nat Commun. 2019. PMID: 31028252 Free PMC article.
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.
Martin-Almedina S, Martinez-Corral I, Holdhus R, Vicente A, Fotiou E, Lin S, Petersen K, Simpson MA, Hoischen A, Gilissen C, Jeffery H, Atton G, Karapouliou C, Brice G, Gordon K, Wiseman JW, Wedin M, Rockson SG, Jeffery S, Mortimer PS, Snyder MP, Berland S, Mansour S, Makinen T, Ostergaard P. Martin-Almedina S, et al. Among authors: snyder mp. J Clin Invest. 2016 Aug 1;126(8):3080-8. doi: 10.1172/JCI85794. Epub 2016 Jul 11. J Clin Invest. 2016. PMID: 27400125 Free PMC article.
An Expanded Registry of Candidate cis-Regulatory Elements for Studying Transcriptional Regulation.
Moore JE, Pratt HE, Fan K, Phalke N, Fisher J, Elhajjajy SI, Andrews G, Gao M, Shedd N, Fu Y, Lacadie MC, Meza J, Ganna M, Choudhury E, Swofford R, Farrell NP, Pampari A, Ramalingam V, Reese F, Borsari B, Yu M, Wattenberg E, Ruiz-Romero M, Razavi-Mohseni M, Xu J, Galeev T, Beer MA, Guigó R, Gerstein M, Engreitz J, Ljungman M, Reddy TE, Snyder MP, Epstein CB, Gaskell E, Bernstein BE, Dickel DE, Visel A, Pennacchio LA, Mortazavi A, Kundaje A, Weng Z. Moore JE, et al. Among authors: snyder mp. bioRxiv [Preprint]. 2024 Dec 26:2024.12.26.629296. doi: 10.1101/2024.12.26.629296. bioRxiv. 2024. PMID: 39763870 Free PMC article. Preprint.
Improving design and normalization of multiplex proteomics study.
Fang H, Shih MC, Jiang L, da Veiga Leprevost F, Jian R, Chan J, Nesvizhskii AI, Snyder MP, Tang H. Fang H, et al. Among authors: snyder mp. bioRxiv [Preprint]. 2024 Dec 10:2024.12.05.627093. doi: 10.1101/2024.12.05.627093. bioRxiv. 2024. PMID: 39713300 Free PMC article. Preprint.
Evaluation of a biomarker for amyotrophic lateral sclerosis derived from a hypomethylated DNA signature of human motor neurons.
Harvey C, Nowak A, Zhang S, Moll T, Weimer AK, Barcons AM, Dos Santos Souza C, Ferraiuolo L, Kenna K, Zaitlen N, Caggiano C, Shaw PJ, Snyder MP, Mill J, Hannon E, Cooper-Knock J. Harvey C, et al. Among authors: snyder mp. Res Sq [Preprint]. 2024 Nov 26:rs.3.rs-5397445. doi: 10.21203/rs.3.rs-5397445/v1. Res Sq. 2024. PMID: 39649175 Free PMC article. Preprint.
361 results