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Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.
Higgins J, Dalgleish R, den Dunnen JT, Barsh G, Freeman PJ, Cooper DN, Cullinan S, Davies KE, Dorkins H, Gong L, Imoto I, Klein TE, Korf B, Misra A, Paalman MH, Ratzel S, Reichardt JKV, Rehm HL, Tokunaga K, Weck KE, Cutting GR. Higgins J, et al. Among authors: korf b. Hum Mutat. 2021 Jan;42(1):3-7. doi: 10.1002/humu.24144. Epub 2020 Dec 10. Hum Mutat. 2021. PMID: 33252176 Free PMC article.
Connexin 26 studies in patients with sensorineural hearing loss.
Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Kenna MA, et al. Among authors: korf br. Arch Otolaryngol Head Neck Surg. 2001 Sep;127(9):1037-42. doi: 10.1001/archotol.127.9.1037. Arch Otolaryngol Head Neck Surg. 2001. PMID: 11556849
New approaches to molecular diagnosis.
Korf BR, Rehm HL. Korf BR, et al. JAMA. 2013 Apr 10;309(14):1511-21. doi: 10.1001/jama.2013.3239. JAMA. 2013. PMID: 23571590
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT. Kalia SS, et al. Among authors: korf br. Genet Med. 2017 Feb;19(2):249-255. doi: 10.1038/gim.2016.190. Epub 2016 Nov 17. Genet Med. 2017. PMID: 27854360 Free article.
304 results