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Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome.
Ambrosio L, Hansen RM, Moskowitz A, Oza A, Barrett D, Manganella J, Medina G, Kawai K, Fulton AB, Kenna M. Ambrosio L, et al. Among authors: kenna m. Doc Ophthalmol. 2021 Aug;143(1):39-51. doi: 10.1007/s10633-021-09818-y. Epub 2021 Jan 28. Doc Ophthalmol. 2021. PMID: 33511521
Otolaryngologic Manifestations of Klippel-Feil Syndrome in Children.
Kenna MA, Irace AL, Strychowsky JE, Kawai K, Barrett D, Manganella J, Cunningham MJ. Kenna MA, et al. JAMA Otolaryngol Head Neck Surg. 2018 Mar 1;144(3):238-243. doi: 10.1001/jamaoto.2017.2917. JAMA Otolaryngol Head Neck Surg. 2018. PMID: 29372238 Free PMC article.
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; ClinGen Hearing Loss Clinical Domain Working Group. Oza AM, et al. Among authors: kenna m. Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630. Hum Mutat. 2018. PMID: 30311386 Free PMC article.
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group. DiStefano MT, et al. Among authors: kenna m. Genet Med. 2019 Oct;21(10):2239-2247. doi: 10.1038/s41436-019-0487-0. Epub 2019 Mar 21. Genet Med. 2019. PMID: 30894701 Free PMC article.
Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group. DiStefano MT, et al. Among authors: kenna m. Genet Med. 2019 Oct;21(10):2409. doi: 10.1038/s41436-019-0553-7. Genet Med. 2019. PMID: 31114025 Free article.
196 results