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Evidence-based path to newborn screening for Duchenne muscular dystrophy.
Mendell JR, Shilling C, Leslie ND, Flanigan KM, al-Dahhak R, Gastier-Foster J, Kneile K, Dunn DM, Duval B, Aoyagi A, Hamil C, Mahmoud M, Roush K, Bird L, Rankin C, Lilly H, Street N, Chandrasekar R, Weiss RB. Mendell JR, et al. Among authors: kneile k. Ann Neurol. 2012 Mar;71(3):304-13. doi: 10.1002/ana.23528. Ann Neurol. 2012. PMID: 22451200
A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.
Al-Zaidy SA, Malik V, Kneile K, Rosales XQ, Gomez AM, Lewis S, Hashimoto S, Gastier-Foster J, Kang P, Darras B, Kunkel L, Carlo J, Sahenk Z, Moore SA, Pyatt R, Mendell JR. Al-Zaidy SA, et al. Among authors: kneile k. Mol Genet Genomic Med. 2015 Mar;3(2):92-8. doi: 10.1002/mgg3.125. Epub 2015 Jan 8. Mol Genet Genomic Med. 2015. PMID: 25802879 Free PMC article.
Integrated genomic characterization of endometrial carcinoma.
Cancer Genome Atlas Research Network; Kandoth C, Schultz N, Cherniack AD, Akbani R, Liu Y, Shen H, Robertson AG, Pashtan I, Shen R, Benz CC, Yau C, Laird PW, Ding L, Zhang W, Mills GB, Kucherlapati R, Mardis ER, Levine DA. Cancer Genome Atlas Research Network, et al. Nature. 2013 May 2;497(7447):67-73. doi: 10.1038/nature12113. Nature. 2013. PMID: 23636398 Free PMC article.