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Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.
JAMA Netw Open. 2019 Oct 2;2(10):e1913900. doi: 10.1001/jamanetworkopen.2019.13900.
JAMA Netw Open. 2019.
PMID: 31642931
Free PMC article.
False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.
Tandy-Connor S, Guiltinan J, Krempely K, LaDuca H, Reineke P, Gutierrez S, Gray P, Tippin Davis B.
Tandy-Connor S, et al. Among authors: krempely k.
Genet Med. 2018 Dec;20(12):1515-1521. doi: 10.1038/gim.2018.38. Epub 2018 Mar 22.
Genet Med. 2018.
PMID: 29565420
Free PMC article.
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A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay.
Krempely K, Karam R.
Krempely K, et al.
Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4):a003012. doi: 10.1101/mcs.a003012. Print 2018 Aug.
Cold Spring Harb Mol Case Stud. 2018.
PMID: 29798843
Free PMC article.
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Advocating for the consumer: clinical confirmation of all direct-to-consumer raw data alterations remains critical.
Tandy-Connor S, Krempely K, Pesaran T, LaDuca H, Guiltinan J, Davis BT.
Tandy-Connor S, et al. Among authors: krempely k.
Genet Med. 2019 Mar;21(3):760-761. doi: 10.1038/s41436-018-0095-4. Epub 2018 Jun 27.
Genet Med. 2019.
PMID: 29950595
Free article.
No abstract available.
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Lee K, Krempely K, Roberts ME, Anderson MJ, Carneiro F, Chao E, Dixon K, Figueiredo J, Ghosh R, Huntsman D, Kaurah P, Kesserwan C, Landrith T, Li S, Mensenkamp AR, Oliveira C, Pardo C, Pesaran T, Richardson M, Slavin TP, Spurdle AB, Trapp M, Witkowski L, Yi CS, Zhang L, Plon SE, Schrader KA, Karam R.
Lee K, et al. Among authors: krempely k.
Hum Mutat. 2018 Nov;39(11):1553-1568. doi: 10.1002/humu.23650.
Hum Mutat. 2018.
PMID: 30311375
Free PMC article.
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TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation Family.
Streff H, Posey JE, Mauer CB, Krempely K, Potocki L, Northrup H.
Streff H, et al. Among authors: krempely k.
Pediatr Neurol. 2020 Sep;110:89-91. doi: 10.1016/j.pediatrneurol.2020.04.017. Epub 2020 May 4.
Pediatr Neurol. 2020.
PMID: 32654957
No abstract available.
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Colocalization of hyperpolarization-activated, cyclic nucleotide-gated channel subunits in rat retinal ganglion cells.
Stradleigh TW, Ogata G, Partida GJ, Oi H, Greenberg KP, Krempely KS, Ishida AT.
Stradleigh TW, et al. Among authors: krempely ks.
J Comp Neurol. 2011 Sep 1;519(13):2546-73. doi: 10.1002/cne.22638.
J Comp Neurol. 2011.
PMID: 21456027
Free PMC article.
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