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Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.
Wu Y, Arai AC, Rumbaugh G, Srivastava AK, Turner G, Hayashi T, Suzuki E, Jiang Y, Zhang L, Rodriguez J, Boyle J, Tarpey P, Raymond FL, Nevelsteen J, Froyen G, Stratton M, Futreal A, Gecz J, Stevenson R, Schwartz CE, Valle D, Huganir RL, Wang T. Wu Y, et al. Among authors: valle d. Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18163-8. doi: 10.1073/pnas.0708699104. Epub 2007 Nov 7. Proc Natl Acad Sci U S A. 2007. PMID: 17989220 Free PMC article.
Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios.
Fallin MD, Lasseter VK, Avramopoulos D, Nicodemus KK, Wolyniec PS, McGrath JA, Steel G, Nestadt G, Liang KY, Huganir RL, Valle D, Pulver AE. Fallin MD, et al. Among authors: valle d. Am J Hum Genet. 2005 Dec;77(6):918-36. doi: 10.1086/497703. Epub 2005 Oct 28. Am J Hum Genet. 2005. PMID: 16380905 Free PMC article.
Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism.
Mejias R, Adamczyk A, Anggono V, Niranjan T, Thomas GM, Sharma K, Skinner C, Schwartz CE, Stevenson RE, Fallin MD, Kaufmann W, Pletnikov M, Valle D, Huganir RL, Wang T. Mejias R, et al. Among authors: valle d. Proc Natl Acad Sci U S A. 2011 Mar 22;108(12):4920-5. doi: 10.1073/pnas.1102233108. Epub 2011 Mar 7. Proc Natl Acad Sci U S A. 2011. PMID: 21383172 Free PMC article.
SynaptomeDB: an ontology-based knowledgebase for synaptic genes.
Pirooznia M, Wang T, Avramopoulos D, Valle D, Thomas G, Huganir RL, Goes FS, Potash JB, Zandi PP. Pirooznia M, et al. Among authors: valle d. Bioinformatics. 2012 Mar 15;28(6):897-9. doi: 10.1093/bioinformatics/bts040. Epub 2012 Jan 27. Bioinformatics. 2012. PMID: 22285564 Free PMC article.
Functional consequences of PRODH missense mutations.
Bender HU, Almashanu S, Steel G, Hu CA, Lin WW, Willis A, Pulver A, Valle D. Bender HU, et al. Among authors: valle d. Am J Hum Genet. 2005 Mar;76(3):409-20. doi: 10.1086/428142. Epub 2005 Jan 20. Am J Hum Genet. 2005. PMID: 15662599 Free PMC article.
687 results