Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
6 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
Genet Med. 2014 Nov;16(11):830-7. doi: 10.1038/gim.2014.40. Epub 2014 Apr 24.
Genet Med. 2014.
PMID: 24763289
Free PMC article.
Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing.
Shahmirzadi L, Chao EC, Palmaer E, Parra MC, Tang S, Gonzalez KD.
Shahmirzadi L, et al. Among authors: palmaer e.
Genet Med. 2014 May;16(5):395-9. doi: 10.1038/gim.2013.153. Epub 2013 Oct 10.
Genet Med. 2014.
PMID: 24113345
Free PMC article.
Item in Clipboard
Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions.
Powis Z, Towne MC, Hagman KDF, Blanco K, Palmaer E, Castro A, Sajan SA, Radtke K, Feyma TJ, Juliette K, Tang S, Sidiropoulos C.
Powis Z, et al. Among authors: palmaer e.
Clin Genet. 2020 Feb;97(2):305-311. doi: 10.1111/cge.13657. Epub 2019 Oct 30.
Clin Genet. 2020.
PMID: 31628766
Item in Clipboard
When moments matter: Finding answers with rapid exome sequencing.
Powis Z, Farwell Hagman KD, Blanco K, Au M, Graham JM, Singh K, Gallant N, Randolph LM, Towne M, Hunter J, Shinde DN, Palmaer E, Schoenfeld B, Tang S.
Powis Z, et al. Among authors: palmaer e.
Mol Genet Genomic Med. 2020 Feb;8(2):e1027. doi: 10.1002/mgg3.1027. Epub 2019 Dec 24.
Mol Genet Genomic Med. 2020.
PMID: 31872981
Free PMC article.
Item in Clipboard
Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.
Powis Z, Hart A, Cherny S, Petrik I, Palmaer E, Tang S, Jones C.
Powis Z, et al. Among authors: palmaer e.
BMC Med Genet. 2017 Jun 2;18(1):60. doi: 10.1186/s12881-017-0426-3.
BMC Med Genet. 2017.
PMID: 28577551
Free PMC article.
Item in Clipboard
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
Synofzik M, Helbig KL, Harmuth F, Deconinck T, Tanpaiboon P, Sun B, Guo W, Wang R, Palmaer E, Tang S, Schaefer GB, Gburek-Augustat J, Züchner S, Krägeloh-Mann I, Baets J, de Jonghe P, Bauer P, Chen SRW, Schöls L, Schüle R.
Synofzik M, et al. Among authors: palmaer e.
Eur J Hum Genet. 2018 Nov;26(11):1623-1634. doi: 10.1038/s41431-018-0206-3. Epub 2018 Jun 20.
Eur J Hum Genet. 2018.
PMID: 29925855
Free PMC article.
Item in Clipboard
Cite
Cite