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Page 1
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.
Tran-Viet KN, Powell C, Barathi VA, Klemm T, Maurer-Stroh S, Limviphuvadh V, Soler V, Ho C, Yanovitch T, Schneider G, Li YJ, Nading E, Metlapally R, Saw SM, Goh L, Rozen S, Young TL. Tran-Viet KN, et al. Among authors: nading e. Am J Hum Genet. 2013 May 2;92(5):820-6. doi: 10.1016/j.ajhg.2013.04.005. Am J Hum Genet. 2013. PMID: 23643385 Free PMC article.
The Global ALPL gene variant classification project: Dedicated to deciphering variants.
Farman MR, Rehder C, Malli T, Rockman-Greenberg C, Dahir K, Martos-Moreno GÁ, Linglart A, Ozono K, Seefried L, Del Angel G, Webersinke G, Barbazza F, John LK, Delana Mudiyanselage SMA, Högler F, Nading EB, Huggins E, Rush ET, El-Gazzar A, Kishnani PS, Högler W. Farman MR, et al. Among authors: nading eb. Bone. 2024 Jan;178:116947. doi: 10.1016/j.bone.2023.116947. Epub 2023 Oct 26. Bone. 2024. PMID: 37898381 Free article.
Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia.
Lim SH, St Germain E, Tran-Viet KN, Staffieri S, Marino M, Dollfus PH, Nading EB, Crowe S, Gole G, Perdomo-Trujillo Y, Haybittel M, Elder J, Pelletier V, Traboulsi E, Mackey D, Young TL. Lim SH, et al. Among authors: nading eb. Ophthalmic Genet. 2014 Mar;35(1):1-6. doi: 10.3109/13816810.2012.752017. Epub 2013 Jun 26. Ophthalmic Genet. 2014. PMID: 23802135 Free PMC article.
Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.
Beaman MM, Yin W, Smith AJ, Sears PR, Leigh MW, Ferkol TW, Kearney B, Olivier KN, Kimple AJ, Clarke S, Huggins E, Nading E, Jung SH, Iyengar AK, Zou X, Dang H, Barrera A, Majoros WH, Rehder CW, Reddy TE, Ostrowski LE, Allen AS, Knowles MR, Zariwala MA, Crawford GE. Beaman MM, et al. Among authors: nading e. Am J Med Genet A. 2025 Feb;197(2):e63880. doi: 10.1002/ajmg.a.63880. Epub 2024 Oct 4. Am J Med Genet A. 2025. PMID: 39364610
The ALPL gene variant project: results of the first 100 reclassified variants.
Farman MR, Malli T, Rehder C, Webersinke G, Rockman-Greenberg C, Dahir K, Martos-Moreno GÁ, Linglart A, Ozono K, Seefried L, Del Angel G, Barbazza F, Shojaei S, Ebner-Jahn J, Högler F, Nading EB, Huggins E, Rush ET, El-Gazzar A, Tauer JT, Kishnani PS, Högler W. Farman MR, et al. Among authors: nading eb. JBMR Plus. 2025 Mar 17;9(6):ziaf044. doi: 10.1093/jbmrpl/ziaf044. eCollection 2025 Jun. JBMR Plus. 2025. PMID: 40386289 Free PMC article.