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122 results

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Page 1
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, Strom CM, Keiles SB, Higgins JJ. Karbassi I, et al. Among authors: rowland cm. Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29. Hum Mutat. 2016. PMID: 26467025 Free PMC article.
Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS).
Strom CM, Anderson B, Tsao D, Zhang K, Liu Y, Livingston K, Elzinga C, Evans M, Nguyen Q, Wolfson D, Rowland C, Kolacki P, Maxwell M, Wang JC, Rabin D, Catanese J, Owen R, Braastad C, Sun W. Strom CM, et al. Among authors: rowland c. PLoS One. 2017 Mar 1;12(3):e0167130. doi: 10.1371/journal.pone.0167130. eCollection 2017. PLoS One. 2017. PMID: 28248967 Free PMC article.
Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease.
Li Y, Hollingworth P, Moore P, Foy C, Archer N, Powell J, Nowotny P, Holmans P, O'Donovan M, Tacey K, Doil L, van Luchene R, Garcia V, Rowland C, Lau K, Cantanese J, Sninsky J, Hardy J, Thal L, Morris JC, Goate A, Lovestone S, Owen M, Williams J, Grupe A. Li Y, et al. Hum Mutat. 2005 Mar;25(3):270-7. doi: 10.1002/humu.20138. Hum Mutat. 2005. PMID: 15714520
A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrièze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A. Grupe A, et al. Among authors: rowland c. Am J Hum Genet. 2006 Jan;78(1):78-88. doi: 10.1086/498851. Epub 2005 Nov 15. Am J Hum Genet. 2006. PMID: 16385451 Free PMC article.
Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants.
Grupe A, Abraham R, Li Y, Rowland C, Hollingworth P, Morgan A, Jehu L, Segurado R, Stone D, Schadt E, Karnoub M, Nowotny P, Tacey K, Catanese J, Sninsky J, Brayne C, Rubinsztein D, Gill M, Lawlor B, Lovestone S, Holmans P, O'Donovan M, Morris JC, Thal L, Goate A, Owen MJ, Williams J. Grupe A, et al. Hum Mol Genet. 2007 Apr 15;16(8):865-73. doi: 10.1093/hmg/ddm031. Epub 2007 Feb 22. Hum Mol Genet. 2007. PMID: 17317784
Identification of four gene variants associated with myocardial infarction.
Shiffman D, Ellis SG, Rowland CM, Malloy MJ, Luke MM, Iakoubova OA, Pullinger CR, Cassano J, Aouizerat BE, Fenwick RG, Reitz RE, Catanese JJ, Leong DU, Zellner C, Sninsky JJ, Topol EJ, Devlin JJ, Kane JP. Shiffman D, et al. Among authors: rowland cm. Am J Hum Genet. 2005 Oct;77(4):596-605. doi: 10.1086/491674. Epub 2005 Aug 26. Am J Hum Genet. 2005. PMID: 16175505 Free PMC article.
Evidence that common variation in NEDD9 is associated with susceptibility to late-onset Alzheimer's and Parkinson's disease.
Li Y, Grupe A, Rowland C, Holmans P, Segurado R, Abraham R, Jones L, Catanese J, Ross D, Mayo K, Martinez M, Hollingworth P, Goate A, Cairns NJ, Racette BA, Perlmutter JS, O'Donovan MC, Morris JC, Brayne C, Rubinsztein DC, Lovestone S, Thal LJ, Owen MJ, Williams J. Li Y, et al. Hum Mol Genet. 2008 Mar 1;17(5):759-67. doi: 10.1093/hmg/ddm348. Epub 2007 Dec 6. Hum Mol Genet. 2008. PMID: 18063669
DAPK1 variants are associated with Alzheimer's disease and allele-specific expression.
Li Y, Grupe A, Rowland C, Nowotny P, Kauwe JS, Smemo S, Hinrichs A, Tacey K, Toombs TA, Kwok S, Catanese J, White TJ, Maxwell TJ, Hollingworth P, Abraham R, Rubinsztein DC, Brayne C, Wavrant-De Vrièze F, Hardy J, O'Donovan M, Lovestone S, Morris JC, Thal LJ, Owen M, Williams J, Goate A. Li Y, et al. Hum Mol Genet. 2006 Sep 1;15(17):2560-8. doi: 10.1093/hmg/ddl178. Epub 2006 Jul 17. Hum Mol Genet. 2006. PMID: 16847012
122 results