Neurocognitive phenotypes and genetic dissection of disorders of brain and behavior

Neuron

Volumn 68, Issue 2, 2010, Pages 218-230

  Congdon, Eliza ^a,b   Poldrack, Russell A ^c   Freimer, Nelson B ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF TEXAS AT AUSTIN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN E; CALCIUM CHANNEL; CALCIUM CHANNEL 1A4; CHOLINERGIC RECEPTOR; PRESENILIN 1; PRESENILIN 2; UNCLASSIFIED DRUG;

AUTISM; BEHAVIOR; BIPOLAR DISORDER; BRAIN DISEASE; COGNITION; COPY NUMBER VARIATION; FUNCTIONAL MAGNETIC RESONANCE IMAGING; GENE FREQUENCY; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE REPLICATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC RISK; GENETIC SCREENING; GENETIC TRAIT; GENETIC VARIABILITY; HEREDITY; HIGH THROUGHPUT SCREENING; HUMAN; HUNTINGTON CHOREA; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; QUANTITATIVE TRAIT LOCUS; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; ANIMAL; COGNITION DISORDERS; COMPLICATION; GENETIC PREDISPOSITION; GENETICS;

ANIMALS; BEHAVIORAL SYMPTOMS; BRAIN DISEASES; COGNITION DISORDERS; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; PHENOTYPE;

EID: 77957907705     PISSN: 08966273     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neuron.2010.10.007     Document Type: Review

References (125)

1. Ashburner M., Ball C.A., Blake J.A., Botstein D., Butler H., Cherry J.M., Davis A.P., Dolinski K., Dwight S.S., Eppig J.T., et al. Gene ontology: Tool for the unification of biology. Nat. Genet. 2000, 25:25-29. The Gene Ontology Consortium.
2. Babak T., Garrett-Engele P., Armour C.D., Raymond C.K., Keller M.P., Chen R., Rohl C.A., Johnson J.M., Attie A.D., Fraser H.B., Schadt E.E. Genetic validation of whole-transcriptome sequencing for mapping expression affected by cis-regulatory variation. BMC Genomics 2010, 11:473.
3. Bard J.B.L., Rhee S.Y. Ontologies in biology: Design, applications and future challenges. Nat. Rev. Genet. 2004, 5:213-222.
4. Bearden C.E., Freimer N.B. Endophenotypes for psychiatric disorders: Ready for primetime?. Trends Genet. 2006, 22:306-313.
5. Bearden C.E., Jasinska A.J., Freimer N.B. Methodological issues in molecular genetic studies of mental disorders. Annu. Rev. Clin. Psychol. 2009, 5:49-69.
6. Belsky J., Pluess M. Beyond diathesis stress: Differential susceptibility to environmental influences. Psychol. Bull. 2009, 135:885-908.
7. Bennett C.M., Miller M.B. How reliable are the results from functional magnetic resonance imaging?. Ann. N Y Acad. Sci. 2010, 1191:133-155.
8. Bierut L.J. Nicotine dependence and genetic variation in the nicotinic receptors. Drug Alcohol Depend 2009, 104(Suppl 1):S64-S69.
9. Bilder R.M., Sabb F.W., Cannon T.D., London E.D., Jentsch J.D., Parker D.S., Poldrack R.A., Evans C., Freimer N.B. Phenomics: The systematic study of phenotypes on a genome-wide scale. Neuroscience 2009, 164:30-42.
10. Bilder R.M., Sabb F.W., Parker D.S., Kalar D., Chu W.W., Fox J., Freimer N.B., Poldrack R.A. Cognitive ontologies for neuropsychiatric phenomics research. Cogn. Neuropsychiatry 2009, 14:419-450.
11. Biswal B.B., Mennes M., Zuo X.-N., Gohel S., Kelly C., Smith S.M., Beckmann C.F., Adelstein J.S., Buckner R.L., Colcombe S., et al. Toward discovery science of human brain function. Proc. Natl. Acad. Sci. USA 2010, 107:4734-4739.
12. Blokland G.A., McMahon K.L., Hoffman J., Zhu G., Meredith M., Martin N.G., Thompson P.M., de Zubicaray G.I., Wright M.J. Quantifying the heritability of task-related brain activation and performance during the N-back working memory task: A twin fMRI study. Biol. Psychol. 2008, 79:70-79.
13. Bloss C.S., Schiabor K.M., Schork N.J. Human behavioral informatics in genetic studies of neuropsychiatric disease: Multivariate profile-based analysis. Brain Res. Bull. 2010, 83:177-188.
14. Bookheimer S., Burggren A. APOE-4 genotype and neurophysiological vulnerability to Alzheimer's and cognitive aging. Annu. Rev. Clin. Psychol. 2009, 5:343-362.
15. Brun C.C., Leporé N., Pennec X., Lee A.D., Barysheva M., Madsen S.K., Avedissian C., Chou Y.Y., de Zubicaray G.I., McMahon K.L., et al. Mapping the regional influence of genetics on brain structure variability-a tensor-based morphometry study. Neuroimage 2009, 48:37-49.
16. Bullmore E., Sporns O. Complex brain networks: Graph theoretical analysis of structural and functional systems. Nat. Rev. Neurosci. 2009, 10:186-198.
17. Burggren A.C., Zeineh M.M., Ekstrom A.D., Braskie M.N., Thompson P.M., Small G.W., Bookheimer S.Y. Reduced cortical thickness in hippocampal subregions among cognitively normal apolipoprotein E e4 carriers. Neuroimage 2008, 41:1177-1183.
18. Chanock S.J., Manolio T., Boehnke M., Boerwinkle E., Hunter D.J., Thomas G., Hirschhorn J.N., Abecasis G., Altshuler D., Bailey-Wilson J.E., et al. Replicating genotype-phenotype associations. Nature 2007, 447:655-660. NCI-NHGRI Working Group on Replication in Association Studies.
19. Cheung V.G., Conlin L.K., Weber T.M., Arcaro M., Jen K.Y., Morley M., Spielman R.S. Natural variation in human gene expression assessed in lymphoblastoid cells. Nat. Genet. 2003, 33:422-425.
20. Cheung V.G., Spielman R.S., Ewens K.G., Weber T.M., Morley M., Burdick J.T. Mapping determinants of human gene expression by regional and genome-wide association. Nature 2005, 437:1365-1369.
21. Chiang M.C., Barysheva M., Shattuck D.W., Lee A.D., Madsen S.K., Avedissian C., Klunder A.D., Toga A.W., McMahon K.L., de Zubicaray G.I., et al. Genetics of brain fiber architecture and intellectual performance. J. Neurosci. 2009, 29:2212-2224.
22. Cohen A.L., Fair D.A., Dosenbach N.U.F., Miezin F.M., Dierker D., Van Essen D.C., Schlaggar B.L., Petersen S.E. Defining functional areas in individual human brains using resting functional connectivity MRI. Neuroimage 2008, 41:45-57.
23. De Pauw S.S., Mervielde I. Temperament, personality and developmental psychopathology: A review based on the conceptual dimensions underlying childhood traits. Child Psychiatry Hum. Dev. 2010, 41:313-329.
24. Denny J.C., Ritchie M.D., Basford M.A., Pulley J.M., Bastarache L., Brown-Gentry K., Wang D., Masys D.R., Roden D.M., Crawford D.C. PheWAS: Demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics 2010, 26:1205-1210.
25. Saxena R., Voight B.F., Lyssenko V., Burtt N.P., de Bakker P.I., Chen H., Roix J.J., Kathiresan S., Hirschhorn J.N., et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 2007, 316:1331-1336. Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes of BioMedical Research.
26. Donix M., Burggren A.C., Suthana N.A., Siddarth P., Ekstrom A.D., Krupa A.K., Jones M., Martin-Harris L., Ercoli L.M., Miller K.J., et al. Family history of Alzheimer's Disease and hippocampal structure in healthy people. Am. J. Psychiatry 2010, in press. Published online August 4, 2010. 10.1176/appi.ajp.2010.09111575.
27. Dupuis J., Langenberg C., Prokopenko I., Saxena R., Soranzo N., Jackson A.U., Wheeler E., Glazer N.L., Bouatia-Naji N., Gloyn A.L., et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat. Genet. 2010, 42:105-116. DIAGRAM Consortium, GIANT ConsortiumGIANT Consortium, Global BPgen ConsortiumGlobal BPgen Consortium, Anders Hamsten on behalf of Procardis ConsortiumAnders Hamsten on behalf of Procardis Consortium, MAGIC investigatorsMAGIC investigators.
28. Ehrenreich I.M., Torabi N., Jia Y., Kent J., Martis S., Shapiro J.A., Gresham D., Caudy A.A., Kruglyak L. Dissection of genetically complex traits with extremely large pools of yeast segregants. Nature 2010, 464:1039-1042.
29. Fair D.A., Dosenbach N.U.F., Church J.A., Cohen A.L., Brahmbhatt S., Miezin F.M., Barch D.M., Raichle M.E., Petersen S.E., Schlaggar B.L. Development of distinct control networks through segregation and integration. Proc. Natl. Acad. Sci. USA 2007, 104:13507-13512.
30. Fears S.C., Melega W.P., Service S.K., Lee C., Chen K., Tu Z., Jorgensen M.J., Fairbanks L.A., Cantor R.M., Freimer N.B., Woods R.P. Identifying heritable brain phenotypes in an extended pedigree of vervet monkeys. J. Neurosci. 2009, 29:2867-2875.
31. Fischl B., van der Kouwe A., Destrieux C., Halgren E., Ségonne F., Salat D.H., Busa E., Seidman L.J., Goldstein J., Kennedy D., et al. Automatically parcellating the human cerebral cortex. Cereb. Cortex 2004, 14:11-22.
32. Freimer N.B., Sabatti C. The human phenome project. Nat. Genet. 2003, 34:15-21.
33. Freimer N.B., Sabatti C. The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology. Nat. Genet. 2004, 36:1045-1051.
34. Freimer N.B., Service S.K., Ophoff R.A., Jasinska A.J., McKee K., Villeneuve A., Belisle A., Bailey J.N., Breidenthal S.E., Jorgensen M.J., et al. A quantitative trait locus for variation in dopamine metabolism mapped in a primate model using reference sequences from related species. Proc. Natl. Acad. Sci. USA 2007, 104:15811-15816.
35. Gamazon E.R., Zhang W., Konkashbaev A., Duan S., Kistner E.O., Nicolae D.L., Dolan M.E., Cox N.J. SCAN: SNP and copy number annotation. Bioinformatics 2010, 26:259-262.
36. Geschwind D.H., Konopka G. Neuroscience in the era of functional genomics and systems biology. Nature 2009, 461:908-915.
37. Giedd J.N., Schmitt J.E., Neale M.C. Structural brain magnetic resonance imaging of pediatric twins. Hum. Brain Mapp. 2007, 28:474-481.
38. Glahn D.C., Thompson P.M., Blangero J. Neuroimaging endophenotypes: Strategies for finding genes influencing brain structure and function. Hum. Brain Mapp. 2007, 28:488-501.
39. Glahn D.C., Almasy L., Barguil M., Hare E., Peralta J.M., Kent J.W.J., Dassori A., Contreras J., Pacheco A., Lanzagorta N., et al. Neurocognitive endophenotypes for bipolar disorder identified in multiplex multigenerational families. Arch. Gen. Psychiatry 2010, 67:168-177.
40. Glahn D.C., Winkler A.M., Kochunov P., Almasy L., Duggirala R., Carless M.A., Curran J.C., Olvera R.L., Laird A.R., Smith S.M., et al. Genetic control over the resting brain. Proc. Natl. Acad. Sci. USA 2010, 107:1223-1228.
41. Glatt C.E., Freimer N.B. Association analysis of candidate genes for neuropsychiatric disease: The perpetual campaign. Trends Genet. 2002, 18:307-312.
42. Gottesman I.I., Gould T.D. The endophenotype concept in psychiatry: Etymology and strategic intentions. Am. J. Psychiatry 2003, 160:636-645.
43. Grubb S.C., Maddatu T.P., Bult C.J., Bogue M.A. Mouse phenome database. Nucleic Acids Res. 2009, 37(Database issue):D720-D730.
44. Hall M.-H., Smoller J.W. A new role for endophenotypes in the GWAS era: Functional characterization of risk variants. Harv. Rev. Psychiatry 2010, 18:67-74.
45. Hariri A.R. The neurobiology of individual differences in complex behavioral traits. Annu. Rev. Neurosci. 2009, 32:225-247.
46. Hasler G., Drevets W.C., Gould T.D., Gottesman I.I., Manji H.K. Toward constructing an endophenotype strategy for bipolar disorders. Biol. Psychiatry 2006, 60:93-105.
47. Hindorff L.A., Sethupathy P., Junkins H.A., Ramos E.M., Mehta J.P., Collins F.S., Manolio T.A. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl. Acad. Sci. USA 2009, 106:9362-9367.
48. Houle D. Colloquium papers: Numbering the hairs on our heads: The shared challenge and promise of phenomics. Proc. Natl. Acad. Sci. USA 2010, 107(Suppl 1):1793-1799.
49. Purcell S.M., Wray N.R., Stone J.L., Visscher P.M., O'Donovan M.C., Sullivan P.F., Sklar P. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 2009, 460:748-752. International Schizophrenia Consortium.
50. Ioannidis J.P. Why most discovered true associations are inflated. Epidemiology 2008, 19:640-648.
51. Jack C.R., Bernstein M.A., Fox N.C., Thompson P., Alexander G., Harvey D., Borowski B., Britson P.J., L Whitwell J., Ward C., et al. The Alzheimer's Disease Neuroimaging Initiative (ADNI): MRI methods. J. Magn. Reson. Imaging 2008, 27:685-691.
52. James A.S., Groman S.M., Seu E., Jorgensen M., Fairbanks L.A., Jentsch J.D. Dimensions of impulsivity are associated with poor spatial working memory performance in monkeys. J. Neurosci. 2007, 27:14358-14364.
53. Jang K.L., Livesley W.J., Vernon P.A. Heritability of the big five personality dimensions and their facets: A twin study. J. Pers. 1996, 64:577-591.
54. Jasinska A.J., Service S., Choi O.W., DeYoung J., Grujic O., Kong S.Y., Jorgensen M.J., Bailey J., Breidenthal S., Fairbanks L.A., et al. Identification of brain transcriptional variation reproduced in peripheral blood: An approach for mapping brain expression traits. Hum. Mol. Genet. 2009, 18:4415-4427.
55. Kane M.J., Conway A.R., Miura T.K., Colflesh G.J. Working memory, attention control, and the N-back task: A question of construct validity. J. Exp. Psychol. Learn. Mem. Cogn. 2007, 33:615-622.
56. Kanthaswamy S., Capitanio J.P., Dubay C.J., Ferguson B., Folks T., Ha J.C., Hotchkiss C.E., Johnson Z.P., Katze M.G., Kean L.S., et al. Resources for genetic management and genomics research on non-human primates at the National Primate Research Centers (NPRCs). J. Med. Primatol. 2009, 38(Suppl 1):17-23.
57. Keller M.C., Coventry W.L., Heath A.C., Martin N.G. Widespread evidence for non-additive genetic variation in Cloninger's and Eysenck's personality dimensions using a twin plus sibling design. Behav. Genet. 2005, 35:707-721.
58. Kim S., Xing E.P. Statistical estimation of correlated genome associations to a quantitative trait network. PLoS Genet. 2009, 5:e1000587.
59. Kochunov P., Glahn D.C., Fox P.T., Lancaster J.L., Saleem K., Shelledy W., Zilles K., Thompson P.M., Coulon O., Mangin J.F., et al. Genetics of primary cerebral gyrification: Heritability of length, depth and area of primary sulci in an extended pedigree of Papio baboons. Neuroimage 2010, 53:1126-1134.
60. Kochunov P., Glahn D.C., Lancaster J.L., Winkler A.M., Smith S., Thompson P.M., Almasy L., Duggirala R., Fox P.T., Blangero J. Genetics of microstructure of cerebral white matter using diffusion tensor imaging. Neuroimage 2010, 53:1109-1116.
61. Koten J.W.J., Wood G., Hagoort P., Goebel R., Propping P., Willmes K., Boomsma D.I. Genetic contribution to variation in cognitive function: An FMRI study in twins. Science 2009, 323:1737-1740.
62. Lander E.S., Schork N.J. Genetic dissection of complex traits. Science 1994, 265:2037-2048.
63. Lawrence A.D., Sahakian B.J., Robbins T.W. Cognitive functions and corticostriatal circuits: Insights from Huntington's disease. Trends Cogn. Sci. 1998, 2:379-388.
64. Mailman M.D., Feolo M., Jin Y., Kimura M., Tryka K., Bagoutdinov R., Hao L., Kiang A., Paschall J., Phan L., et al. The NCBI dbGaP database of genotypes and phenotypes. Nat. Genet. 2007, 39:1181-1186.
65. Manolio T.A., Collins F.S., Cox N.J., Goldstein D.B., Hindorff L.A., Hunter D.J., McCarthy M.I., Ramos E.M., Cardon L.R., Chakravarti A., et al. Finding the missing heritability of complex diseases. Nature 2009, 461:747-753.
66. Marcheva B., Ramsey K.M., Buhr E.D., Kobayashi Y., Su H., Ko C.H., Ivanova G., Omura C., Mo S., Vitaterna M.H., et al. Disruption of the clock components CLOCK and BMAL1 leads to hypoinsulinaemia and diabetes. Nature 2010, 466:627-631.
67. Marcus D.S., Wang T.H., Parker J., Csernansky J.G., Morris J.C., Buckner R.L. Open Access Series of Imaging Studies (OASIS): Cross-sectional MRI data in young, middle aged, nondemented, and demented older adults. J. Cogn. Neurosci. 2007, 19:1498-1507.
68. Matthews S.C., Simmons A.N., Strigo I., Jang K., Stein M.B., Paulus M.P. Heritability of anterior cingulate response to conflict: An fMRI study in female twins. Neuroimage 2007, 38:223-227.
69. McGue M., Bouchard T.J. Genetic and environmental influences on human behavioral differences. Annu. Rev. Neurosci. 1998, 21:1-24.
70. McIntosh A.R. Towards a network theory of cognition. Neural Netw. 2000, 13:861-870.
71. Medland S.E., Neale M.C. An integrated phenomic approach to multivariate allelic association. Eur. J. Hum. Genet. 2010, 18:233-239.
72. Monks S.A., Leonardson A., Zhu H., Cundiff P., Pietrusiak P., Edwards S., Phillips J.W., Sachs A., Schadt E.E. Genetic inheritance of gene expression in human cell lines. Am. J. Hum. Genet. 2004, 75:1094-1105.
73. Mumford J.A., Horvath S., Oldham M.C., Langfelder P., Geschwind D.H., Poldrack R.A. Detecting network modules in fMRI time series: A weighted network analysis approach. Neuroimage 2010, 52:1465-1476.
74. Munafò M.R., Stothart G., Flint J. Bias in genetic association studies and impact factor. Mol. Psychiatry 2009, 14:119-120.
75. Myers A.J., Gibbs J.R., Webster J.A., Rohrer K., Zhao A., Marlowe L., Kaleem M., Leung D., Bryden L., Nath P., et al. A survey of genetic human cortical gene expression. Nat. Genet. 2007, 39:1494-1499.
76. Nestler E.J., Hyman S.E. Animal models of neuropsychiatric disorders. Nat. Neurosci. 2010, 13:1161-1169.
77. Newman M., Barabási A.-L., Watts D.J. The Structure and Dynamics of Networks 2006, Princeton University Press, Princeton, New Jersey. First Edition.
78. Newton-Cheh C., Johnson T., Gateva V., Tobin M.D., Bochud M., Coin L., Najjar S.S., Zhao J.H., Heath S.C., Eyheramendy S., et al. Genome-wide association study identifies eight loci associated with blood pressure. Nat. Genet. 2009, 41:666-676. Wellcome Trust Case Control Consortium.
79. Nicolae D.L., Gamazon E., Zhang W., Duan S., Dolan M.E., Cox N.J. Trait-associated SNPs are more likely to be eQTLs: Annotation to enhance discovery from GWAS. PLoS Genet. 2010, 6:e1000888.
80. Nigg J.T. Temperament and developmental psychopathology. J. Child Psychol. Psychiatry 2006, 47:395-422.
81. O'Rahilly S. Human genetics illuminates the paths to metabolic disease. Nature 2009, 462:307-314.
82. Oldham M.C., Horvath S., Geschwind D.H. Conservation and evolution of gene coexpression networks in human and chimpanzee brains. Proc. Natl. Acad. Sci. USA 2006, 103:17973-17978.
83. Oldham M.C., Konopka G., Iwamoto K., Langfelder P., Kato T., Horvath S., Geschwind D.H. Functional organization of the transcriptome in human brain. Nat. Neurosci. 2008, 11:1271-1282.
84. Oler J.A., Fox A.S., Shelton S.E., Rogers J., Dyer T.D., Davidson R.J., Shelledy W., Oakes T.R., Blangero J., Kalin N.H. Amygdalar and hippocampal substrates of anxious temperament differ in their heritability. Nature 2010, 466:864-868.
85. Ophoff R.A., Terwindt G.M., Vergouwe M.N., van Eijk R., Oefner P.J., Hoffman S.M.G., Lamerdin J.E., Mohrenweiser H.W., Bulman D.E., Ferrari M., et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 1996, 87:543-552.
86. Oti M., Huynen M.A., Brunner H.G. The biological coherence of human phenome databases. Am. J. Hum. Genet. 2009, 85:801-808.
87. Pembrey M. Genetic epidemiology: Some special contributions of birth cohorts. Paediatr. Perinat. Epidemiol. 2004, 18:3-7.
88. Peper J.S., Brouwer R.M., Boomsma D.I., Kahn R.S., Hulshoff Pol H.E. Genetic influences on human brain structure: A review of brain imaging studies in twins. Hum. Brain Mapp. 2007, 28:464-473.
89. Petersen R.C., Aisen P.S., Beckett L.A., Donohue M.C., Gamst A.C., Harvey D.J., Jack C.R.J., Jagust W.J., Shaw L.M., Toga A.W., et al. Alzheimer's Disease Neuroimaging Initiative (ADNI): Clinical characterization. Neurology 2010, 74:201-209.
90. Pickrell J.K., Marioni J.C., Pai A.A., Degner J.F., Engelhardt B.E., Nkadori E., Veyrieras J.-B., Stephens M., Gilad Y., Pritchard J.K. Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature 2010, 464:768-772.
91. Polk T.A., Park J., Smith M.R., Park D.C. Nature versus nurture in ventral visual cortex: A functional magnetic resonance imaging study of twins. J. Neurosci. 2007, 27:13921-13925.
92. Potkin S.G., Macciardi F., Guffanti G., Wang Q., Turner J.A., Lakatos A., Miles M.F., Lander A., Vawter M.P., Xie X. Identifying gene regulatory networks in schizophrenia. Neuroimage 2010, 53:839-847.
93. Cichon S., Craddock N., Daly M., Faraone S.V., Gejman P.V., Kelsoe J., Lehner T., Levinson D.F., Moran A., et al. Genomewide association studies: History, rationale, and prospects for psychiatric disorders. Am. J. Psychiatry 2009, 166:540-556. Psychiatric GWAS Consortium Coordinating Committee.
94. Reiman E.M., Chen K., Alexander G.E., Caselli R.J., Bandy D., Osborne D., Saunders A.M., Hardy J. Functional brain abnormalities in young adults at genetic risk for late-onset Alzheimer's dementia. Proc. Natl. Acad. Sci. USA 2004, 101:284-289.
95. Rogers J., Kochunov P., Lancaster J., Shelledy W., Glahn D., Blangero J., Fox P. Heritability of brain volume, surface area and shape: An MRI study in an extended pedigree of baboons. Hum. Brain Mapp. 2007, 28:576-583.
96. Rogers J., Kochunov P., Zilles K., Shelledy W., Lancaster J., Thompson P., Duggirala R., Blangero J., Fox P.T., Glahn D.C. On the genetic architecture of cortical folding and brain volume in primates. Neuroimage 2010, 53:1103-1108.
97. Rollins B., Martin M.V., Morgan L., Vawter M.P. Analysis of whole genome biomarker expression in blood and brain. Am. J. Med. Genet. B. Neuropsychiatr. Genet. 2010, 153B:919-936.
98. Rowe J.B., Hughes L.E., Barker R.A., Owen A.M. Dynamic causal modelling of effective connectivity from fMRI: Are results reproducible and sensitive to Parkinson's disease and its treatment?. Neuroimage 2010, 52:1015-1026.
99. Saccone S.F., Hinrichs A.L., Saccone N.L., Chase G.A., Konvicka K., Madden P.A.F., Breslau N., Johnson E.O., Hatsukami D., Pomerleau O., et al. Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs. Hum. Mol. Genet. 2007, 16:36-49.
100. Saccone N.L., Culverhouse R.C., Schwantes-An T.-H., Cannon D.S., Chen X., Cichon S., Giegling I., Han S., Han Y., Keskitalo-Vuokko K., et al. Multiple independent loci at chromosome 15q25.1 affect smoking quantity: A meta-analysis and comparison with lung cancer and COPD. PLoS Genet. 2010, 6:e1001053.
101. Sardana D., Vasa S., Vepachedu N., Chen J., Gudivada R.C., Aronow B.J., Jegga A.G. PhenoHM: Human-mouse comparative phenome-genome server. Nucleic Acids Res. 2010, 38(Suppl):W165-174.
102. Schadt E.E. Molecular networks as sensors and drivers of common human diseases. Nature 2009, 461:218-223.
103. Schmitt J.E., Wallace G.L., Lenroot R.K., Ordaz S.E., Greenstein D., Clasen L., Kendler K.S., Neale M.C., Giedd J.N. A twin study of intracerebral volumetric relationships. Behav. Genet. 2010, 40:114-124.
104. Selkoe D.J., Podlisny M.B. Deciphering the genetic basis of Alzheimer's Disease. Annu. Rev. Genomics Hum. Genet. 2002, 3:67-99.
105. Shehzad Z., Kelly A.M., Reiss P.T., Gee D.G., Gotimer K., Uddin L.Q., Lee S.H., Margulies D.S., Roy A.K., Biswal B.B., et al. The resting brain: Unconstrained yet reliable. Cereb. Cortex 2009, 19:2209-2229.
106. Sing C.F., Haviland M.B., Reilly S.L. Genetic architecture of common multifactorial diseases. Ciba Found. Symp. 1996, 197:211-229, discussion 229-232.
107. Singleton A.B., Hardy J., Traynor B.J., Houlden H. Towards a complete resolution of the genetic architecture of disease. Trends Genet. 2010, 26:438-442.
108. Smith S.M., Miller K.L., Salimi-Khorshidi G., Webster M., Beckmann C.F., Nichols T.E., Ramsey J.D., Woolrich M.W. Network modelling methods for fMRI. Neuroimage 2010, in press. Published online September 15, 2010. 10.1016/j.neuroimage.2010.08.063.
109. Speliotes E.K., Willer C.J., Berndt S.I., Monda K.L., Thorleifsson G., Jackson A.U., Allen H.L., Lindgren C.M., Luan J., Mägi R., et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat. Genet. 2010, in press. Published online October 10, 2010. 10.1038/ng.686.
110. Strother S.C., Anderson J., Hansen L.K., Kjems U., Kustra R., Sidtis J., Frutiger S., Muley S., LaConte S., Rottenberg D. The quantitative evaluation of functional neuroimaging experiments: The NPAIRS data analysis framework. Neuroimage 2002, 15:747-771.
111. Tabor H.K., Risch N.J., Myers R.M. Candidate-gene approaches for studying complex genetic traits: Practical considerations. Nat. Rev. Genet. 2002, 3:391-397.
112. Teslovich T.M., Musunuru K., Smith A.V., Edmondson A.C., Stylianou I.M., Koseki M., Pirruccello J.P., Ripatti S., Chasman D.I., Willer C.J., et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010, 466:707-713.
113. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993, 72:971-983. The Huntington's Disease Collaborative Research Group.
114. Thompson P.M., Cannon T.D., Narr K.L., van Erp T., Poutanen V.P., Huttunen M., Lönnqvist J., Standertskjöld-Nordenstam C.G., Kaprio J., Khaledy M., et al. Genetic influences on brain structure. Nat. Neurosci. 2001, 4:1253-1258.
115. Van Horn J.D., Grafton S.T., Rockmore D., Gazzaniga M.S. Sharing neuroimaging studies of human cognition. Nat. Neurosci. 2004, 7:473-481.
116. van Nas A., Ingram-Drake L., Sinsheimer J.S., Wang S.S., Schadt E.E., Drake T., Lusis A.J. Expression quantitative trait loci: Replication, tissue- and sex-specificity in mice. Genetics 2010, 185:1059-1068.
117. Verweij K.J.H., Zietsch B.P., Medland S.E., Gordon S.D., Benyamin B., Nyholt D.R., McEvoy B.P., Sullivan P.F., Heath A.C., Madden P.A.F., et al. A genome-wide association study of Cloninger's temperament scales: Implications for the evolutionary genetics of personality. Biol. Psychol. 2010, 85:306-317.
118. Visscher P.M., Hill W.G., Wray N.R. Heritability in the genomics era-concepts and misconceptions. Nat. Rev. Genet. 2008, 9:255-266.
119. Walters R.G., Jacquemont S., Valsesia A., de Smith A.J., Martinet D., Andersson J., Falchi M., Chen F., Andrieux J., Lobbens S., et al. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 2010, 463:671-675.
120. Webster J.A., Gibbs J.R., Clarke J., Ray M., Zhang W., Holmans P., Rohrer K., Zhao A., Marlowe L., Kaleem M., et al. Genetic control of human brain transcript expression in Alzheimer disease. Am. J. Hum. Genet. 2009, 84:445-458. NACC-Neuropathology Group.
121. Winkler A.M., Kochunov P., Blangero J., Almasy L., Zilles K., Fox P.T., Duggirala R., Glahn D.C. Cortical thickness or grey matter volume? The importance of selecting the phenotype for imaging genetics studies. Neuroimage 2010, 53:1135-1146.
122. Wolk D.A., Dickerson B.C. Apolipoprotein E (APOE) genotype has dissociable effects on memory and attentional-executive network function in Alzheimer's disease. Proc. Natl. Acad. Sci. USA 2010, 107:10256-10261. Alzheimer's Disease Neuroimaging Initiative.
123. Xu M., Li W., James G.M., Mehan M.R., Zhou X.J. Automated multidimensional phenotypic profiling using large public microarray repositories. Proc. Natl. Acad. Sci. USA 2009, 106:12323-12328.
124. Yang X., Deignan J.L., Qi H., Zhu J., Qian S., Zhong J., Torosyan G., Majid S., Falkard B., Kleinhanz R.R., et al. Validation of candidate causal genes for obesity that affect shared metabolic pathways and networks. Nat. Genet. 2009, 41:415-423.
125. Yang J., Benyamin B., McEvoy B.P., Gordon S., Henders A.K., Nyholt D.R., Madden P.A., Heath A.C., Martin N.G., Montgomery G.W., et al. Common SNPs explain a large proportion of the heritability for human height. Nat. Genet. 2010, 42:565-569.