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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2011 1
2012 3
2013 4
2014 6
2015 3
2016 4
2017 4
2018 3
2019 5
2020 5
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34 results
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Page 1
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
Chung DC, Bertelsen M, Lorenz B, Pennesi ME, Leroy BP, Hamel CP, Pierce E, Sallum J, Larsen M, Stieger K, Preising M, Weleber R, Yang P, Place E, Liu E, Schaefer G, DiStefano-Pappas J, Elci OU, McCague S, Wellman JA, High KA, Reape KZ. Chung DC, et al. Among authors: place e. Am J Ophthalmol. 2019 Mar;199:58-70. doi: 10.1016/j.ajo.2018.09.024. Epub 2018 Sep 28. Am J Ophthalmol. 2019. PMID: 30268864 Free PMC article.
Course of Ocular Function in PRPF31 Retinitis Pigmentosa.
Hafler BP, Comander J, Weigel DiFranco C, Place EM, Pierce EA. Hafler BP, et al. Among authors: place em. Semin Ophthalmol. 2016;31(1-2):49-52. doi: 10.3109/08820538.2015.1114856. Semin Ophthalmol. 2016. PMID: 26959129 Free PMC article. Review.
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A, Place E, Pierce EA, Comander J. Wan A, et al. Among authors: place e. Hum Mutat. 2019 Aug;40(8):1127-1144. doi: 10.1002/humu.23762. Epub 2019 Jun 22. Hum Mutat. 2019. PMID: 30977563 Free PMC article.
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.
Jamshidi F, Place EM, Mehrotra S, Navarro-Gomez D, Maher M, Branham KE, Valkanas E, Cherry TJ, Lek M, MacArthur D, Pierce EA, Bujakowska KM. Jamshidi F, et al. Among authors: place em. Genet Med. 2019 Mar;21(3):694-704. doi: 10.1038/s41436-018-0104-7. Epub 2018 Aug 3. Genet Med. 2019. PMID: 30072743 Free PMC article.
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.
Comander J, Weigel-DiFranco C, Maher M, Place E, Wan A, Harper S, Sandberg MA, Navarro-Gomez D, Pierce EA. Comander J, et al. Among authors: place e. Genes (Basel). 2017 Oct 5;8(10):256. doi: 10.3390/genes8100256. Genes (Basel). 2017. PMID: 28981474 Free PMC article.
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ. Barca E, et al. Among authors: place e. Hum Mol Genet. 2018 Oct 1;27(19):3305-3312. doi: 10.1093/hmg/ddy231. Hum Mol Genet. 2018. PMID: 29917077 Free PMC article.
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB, Navarro-Gomez D, Place EM, Bujakowska KM, Sousa ME, Fonseca-Kelly ZD, Taub DG, Janessian M, Wang DY, Au ED, Sims KB, Sweetser DA, Fulton AB, Liu Q, Wiggs JL, Gai X, Pierce EA. Consugar MB, et al. Among authors: place em. Genet Med. 2015 Apr;17(4):253-261. doi: 10.1038/gim.2014.172. Epub 2014 Nov 20. Genet Med. 2015. PMID: 25412400 Free PMC article.
Systemic diseases associated with retinal dystrophies.
Werdich XQ, Place EM, Pierce EA. Werdich XQ, et al. Among authors: place em. Semin Ophthalmol. 2014 Sep-Nov;29(5-6):319-28. doi: 10.3109/08820538.2014.959202. Semin Ophthalmol. 2014. PMID: 25325857 Review.
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
Okur V, Cho MT, van Wijk R, van Oirschot B, Picker J, Coury SA, Grange D, Manwaring L, Krantz I, Muraresku CC, Hulick PJ, May H, Pierce E, Place E, Bujakowska K, Telegrafi A, Douglas G, Monaghan KG, Begtrup A, Wilson A, Retterer K, Anyane-Yeboa K, Chung WK. Okur V, et al. Among authors: place e. Eur J Hum Genet. 2019 Jul;27(7):1081-1089. doi: 10.1038/s41431-019-0366-9. Epub 2019 Feb 18. Eur J Hum Genet. 2019. PMID: 30778173 Free PMC article. Clinical Trial.
Molecular genetic testing for mitochondrial disease: from one generation to the next.
McCormick E, Place E, Falk MJ. McCormick E, et al. Among authors: place e. Neurotherapeutics. 2013 Apr;10(2):251-61. doi: 10.1007/s13311-012-0174-1. Neurotherapeutics. 2013. PMID: 23269497 Free PMC article. Review.
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