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Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
Loges NT, Antony D, Maver A, Deardorff MA, Güleç EY, Gezdirici A, Nöthe-Menchen T, Höben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Čuturilo G, Krock B, Ritter A, Hjeij R, Bakey Z, Pennekamp P, Dworniczak B, Brunner H, Peterlin B, Tanidir C, Olbrich H, Omran H, Schmidts M. Loges NT, et al. Among authors: goldmuntz e. Am J Hum Genet. 2018 Dec 6;103(6):995-1008. doi: 10.1016/j.ajhg.2018.10.020. Epub 2018 Nov 21. Am J Hum Genet. 2018. PMID: 30471718 Free PMC article.
MESP1 Mutations in Patients with Congenital Heart Defects.
Werner P, Latney B, Deardorff MA, Goldmuntz E. Werner P, et al. Among authors: goldmuntz e. Hum Mutat. 2016 Mar;37(3):308-14. doi: 10.1002/humu.22947. Epub 2016 Jan 19. Hum Mutat. 2016. PMID: 26694203 Free PMC article.
DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.
Li Y, Yagi H, Onuoha EO, Damerla RR, Francis R, Furutani Y, Tariq M, King SM, Hendricks G, Cui C, Saydmohammed M, Lee DM, Zahid M, Sami I, Leatherbury L, Pazour GJ, Ware SM, Nakanishi T, Goldmuntz E, Tsang M, Lo CW. Li Y, et al. Among authors: goldmuntz e. PLoS Genet. 2016 Feb 26;12(2):e1005821. doi: 10.1371/journal.pgen.1005821. eCollection 2016 Feb. PLoS Genet. 2016. PMID: 26918822 Free PMC article.
272 results