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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.
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.
Molecular adaptations in response to exercise training are associated with tissue-specific transcriptomic and epigenomic signatures.
Nair VD, Pincas H, Smith GR, Zaslavsky E, Ge Y, Amper MAS, Vasoya M, Chikina M, Sun Y, Raja AN, Mao W, Gay NR, Esser KA, Smith KS, Zhao B, Wiel L, Singh A, Lindholm ME, Amar D, Montgomery S, Snyder MP, Walsh MJ, Sealfon SC; MoTrPAC Study Group. Nair VD, et al. Among authors: snyder mp. Cell Genom. 2024 Apr 29:100421. doi: 10.1016/j.xgen.2023.100421. Online ahead of print. Cell Genom. 2024. PMID: 38697122 Free article.
Longitudinal cytokine and multi-modal health data of an extremely severe ME/CFS patient with HSD reveals insights into immunopathology, and disease severity.
Jahanbani F, Sing JC, Maynard RD, Jahanbani S, Dafoe J, Dafoe W, Jones N, Wallace KJ, Rastan A, Maecker HT, Röst HL, Snyder MP, Davis RW. Jahanbani F, et al. Among authors: snyder mp. Front Immunol. 2024 Apr 8;15:1369295. doi: 10.3389/fimmu.2024.1369295. eCollection 2024. Front Immunol. 2024. PMID: 38650940 Free PMC article.
Deep learning modeling of rare noncoding genetic variants in human motor neurons defines CCDC146 as a therapeutic target for ALS.
Zhang S, Moll T, Rubin-Sigler J, Tu S, Li S, Yuan E, Liu M, Butt A, Harvey C, Gornall S, Alhalthli E, Shaw A, Souza CDS, Ferraiuolo L, Hornstein E, Shelkovnikova T, van Dijk CH, Timpanaro IS, Kenna KP, Zeng J, Tsao PS, Shaw PJ, Ichida JK, Cooper-Knock J, Snyder MP. Zhang S, et al. Among authors: snyder mp. medRxiv [Preprint]. 2024 Apr 1:2024.03.30.24305115. doi: 10.1101/2024.03.30.24305115. medRxiv. 2024. PMID: 38633814 Free PMC article. Preprint.
331 results