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Predicting Prognosis in CPEO With mtDNA Deletions: A Case Demonstrating the Advantages of Measuring Heteroplasmy With Novel Droplet Digital Polymerase Chain Reaction Testing.
Lambert-Cheatham NA, Tessema ST, Subei O, Sakuru RC, Fullmer MD, Selner EM, Vidal-Folch N, Chang HT, Hasadsri L, Kaufman DI. Lambert-Cheatham NA, et al. Among authors: hasadsri l. J Neuroophthalmol. 2023 Dec 1;43(4):e260-e263. doi: 10.1097/WNO.0000000000001555. Epub 2022 Apr 27. J Neuroophthalmol. 2023. PMID: 35483062 No abstract available.
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: hasadsri l. Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630. Hum Mutat. 2018. PMID: 30311386 Free PMC article.
47 results