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Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.
Reynolds HM, Wen T, Farrell A, Mao R, Moore B, Boyden SE, Bayrak-Toydemir P, Nicholas TJ, Rynearson S, Holt C, Miller C, Noble K, Bentley D, Palmquist R, Ostrander B, Manberg S, Bonkowsky JL, Shayota BJ, Jenkins SM. Reynolds HM, et al. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006242. doi: 10.1101/mcs.a006242. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36379720 Free PMC article.
Hereditary hemorrhagic telangiectasia.
McDonald J, Bayrak-Toydemir P. McDonald J, et al. Haematologica. 2005 Jun;90(6):728-32. Haematologica. 2005. PMID: 15951283 No abstract available.
To clone or not to clone: who will answer the question?
Fiddler MB, Bayrak-Toydemir P, Pergament E. Fiddler MB, et al. Differentiation. 2002 Jan;69(4-5):182-3. doi: 10.1046/j.1432-0436.2002.690410.x. Differentiation. 2002. PMID: 11841475 No abstract available.
One is the loneliest number: genotypic matchmaking using the electronic health record.
Brokamp E, Koziura ME, Phillips JA 3rd, Tang LA, Cogan JD, Rives LC, Robertson AK, Duncan L, Bican A, Peterson JF, Newman JH, Hamid R, Bastarache L; Undiagnosed Diseases Network. Brokamp E, et al. Genet Med. 2021 Oct;23(10):1830-1832. doi: 10.1038/s41436-021-01179-w. Epub 2021 Jul 6. Genet Med. 2021. PMID: 34230636 Free PMC article. No abstract available.
ACMG clinical laboratory standards for next-generation sequencing.
Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E; Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee. Rehm HL, et al. Genet Med. 2013 Sep;15(9):733-47. doi: 10.1038/gim.2013.92. Epub 2013 Jul 25. Genet Med. 2013. PMID: 23887774 Free PMC article.
170 results