A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing

1. MaDQ

CuccaroML

JaworskiJM

HaynesCS

StephanDA

2007 Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14. Mol Psychiatry 12 376 384

2. McClellanJM

SusserE

KingMC

2007 Schizophrenia: a common disease caused by multiple rare alleles. Br J Psychiatry 190 194 199

3. PritchardJK

2001 Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 69 124 137

4. PritchardJK

CoxNJ

2002 The allelic architecture of human disease genes: common disease-common variant…or not? Hum Mol Genet 11 2417 2423

5. SmithDJ

LusisAJ

2002 The allelic structure of common disease. Hum Mol Genet 11 2455 2461

6. CrowJF

2000 The origins, patterns and implications of human spontaneous mutation. Nat Rev Genet 1 40 47

7. Eyre-WalkerA

KeightleyPD

1999 High genomic deleterious mutation rates in hominids. Nature 397 344 347

8. GiannelliF

AnagnostopoulosT

GreenPM

1999 Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B. Am J Hum Genet 65 1580 1587

9. KryukovGV

PennacchioLA

SunyaevSR

2007 Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet 80 727 739

10. WangK

ZhangH

MaD

BucanM

GlessnerJT

2009 Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459 528 533

11. StefanssonH

OphoffRA

SteinbergS

AndreassenOA

CichonS

2009 Common variants conferring risk of schizophrenia. Nature 460 744 747

12. LewisDA

LevittP

2002 Schizophrenia as a disorder of neurodevelopment. Annu Rev Neurosci 25 409 432

13. SkuseDH

2000 Imprinting, the X-chromosome, and the male brain: explaining sex differences in the liability to autism. Pediatr Res 47 9 16

14. BaileyA

Le CouteurA

GottesmanI

BoltonP

SimonoffE

1995 Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 25 63 77

15. SteffenburgS

GillbergC

HellgrenL

AnderssonL

GillbergIC

1989 A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatry 30 405 416

16. BoltonP

MacdonaldH

PicklesA

RiosP

GoodeS

1994 A case-control family history study of autism. J Child Psychol Psychiatry 35 877 900

17. GuptaAR

StateMW

2007 Recent advances in the genetics of autism. Biol Psychiatry 61 429 437

18. KlauckSM

2006 Genetics of autism spectrum disorder. Eur J Hum Genet 14 714 720

19. YangMS

GillM

2007 A review of gene linkage, association and expression studies in autism and an assessment of convergent evidence. Int J Dev Neurosci 25 69 85

20. SebatJ

LakshmiB

MalhotraD

TrogeJ

Lese-MartinC

2007 Strong association of de novo copy number mutations with autism. Science 316 445 449

21. AwadallaP

GauthierJ

MyersRA

CasalsF

HamdanFF

2010 Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. Am J Hum Genet 87 316 324

22. TandonR

KeshavanMS

NasrallahHA

2008 Schizophrenia, “just the facts” what we know in 2008. 2. Epidemiology and etiology. Schizophr Res 102 1 18

23. PurcellSM

WrayNR

StoneJL

VisscherPM

O'DonovanMC

2009 Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 460 748 752

24. ShiJ

LevinsonDF

DuanJ

SandersAR

ZhengY

2009 Common variants on chromosome 6p22.1 are associated with schizophrenia. Nature 460 753 757

25. WalshT

McClellanJM

McCarthySE

AddingtonAM

PierceSB

2008 Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320 539 543

26. XuB

RoosJL

LevyS

van RensburgEJ

GogosJA

2008 Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet 40 880 885

27. StefanssonH

RujescuD

CichonS

PietilainenOP

IngasonA

2008 Large recurrent microdeletions associated with schizophrenia. Nature 455 232 236

28. The_International_Schizophrenia_Consortium 2008 Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455 237 241

29. XuB

WoodroffeA

Rodriguez-MurilloL

RoosJL

van RensburgEJ

2009 Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans. Proc Natl Acad Sci U S A 106 16746 16751

30. PritchardJK

StephensM

DonnellyP

2000 Inference of population structure using multilocus genotype data. Genetics 155 945 959

31. PriceAL

PattersonNJ

PlengeRM

WeinblattME

ShadickNA

2006 Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38 904 909

32. LemelinJP

BoivinM

Forget-DuboisN

DionneG

SeguinJR

2007 The genetic-environmental etiology of cognitive school readiness and later academic achievement in early childhood. Child Dev 78 1855 1869

33. HartlDL

ClarkAG

2007 Principles of population genetics Sunderland, Mass. Sinauer Associates xv, 652

34. MiyataT

HayashidaH

KumaK

MitsuyasuK

YasunagaT

1987 Male-driven molecular evolution: a model and nucleotide sequence analysis. Cold Spring Harb Symp Quant Biol 52 863 867

35. NachmanMW

CrowellSL

2000 Estimate of the mutation rate per nucleotide in humans. Genetics 156 297 304

36. StoneEA

SidowA

2005 Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity. Genome Res 15 978 986

37. LiB

LealSM

2008 Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet 83 311 321

38. BustamanteCD

NielsenR

SawyerSA

OlsenKM

PuruggananMD

2002 The cost of inbreeding in Arabidopsis. Nature 416 531 534

39. BustamanteCD

Fledel-AlonA

WilliamsonS

NielsenR

HubiszMT

2005 Natural selection on protein-coding genes in the human genome. Nature 437 1153 1157

40. BoykoAR

WilliamsonSH

IndapAR

DegenhardtJD

HernandezRD

2008 Assessing the evolutionary impact of amino acid mutations in the human genome. PLoS Genet 4 e1000083

41. CarrollLS

OwenMJ

2009 Genetic overlap between autism, schizophrenia and bipolar disorder. Genome Med 1 102

42. HalpainS

DehmeltL

2006 The MAP1 family of microtubule-associated proteins. Genome Biol 7 224

43. BlackwoodDH

FordyceA

WalkerMT

St ClairDM

PorteousDJ

2001 Schizophrenia and affective disorders–cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family. Am J Hum Genet 69 428 433

44. St ClairD

BlackwoodD

MuirW

CarothersA

WalkerM

1990 Association within a family of a balanced autosomal translocation with major mental illness. Lancet 336 13 16

45. EkelundJ

HovattaI

ParkerA

PaunioT

VariloT

2001 Chromosome 1 loci in Finnish schizophrenia families. Hum Mol Genet 10 1611 1617

46. EkelundJ

LichtermannD

HovattaI

EllonenP

SuvisaariJ

2000 Genome-wide scan for schizophrenia in the Finnish population: evidence for a locus on chromosome 7q22. Hum Mol Genet 9 1049 1057

47. TomppoL

HennahW

LahermoP

LoukolaA

Tuulio-HenrikssonA

2009 Association between genes of Disrupted in schizophrenia 1 (DISC1) interactors and schizophrenia supports the role of the DISC1 pathway in the etiology of major mental illnesses. Biol Psychiatry 65 1055 1062

48. WeiJ

HemmingsGP

2006 A further study of a possible locus for schizophrenia on the X chromosome. Biochem Biophys Res Commun 344 1241 1245

49. HopeCI

SharpDM

Hemara-WahanuiA

SissinghJI

LundonP

2005 Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2. Clin Experiment Ophthalmol 33 129 136

50. AllenNC

BagadeS

McQueenMB

IoannidisJP

KavvouraFK

2008 Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. Nat Genet 40 827 834

51. LiD

HeL

2007 Association study between the NMDA receptor 2B subunit gene (GRIN2B) and schizophrenia: a HuGE review and meta-analysis. Genet Med 9 4 8

52. Cull-CandyS

BrickleyS

FarrantM

2001 NMDA receptor subunits: diversity, development and disease. Curr Opin Neurobiol 11 327 335

53. FunkAJ

RumbaughG

HarotunianV

McCullumsmithRE

Meador-WoodruffJH

2009 Decreased expression of NMDA receptor-associated proteins in frontal cortex of elderly patients with schizophrenia. Neuroreport 20 1019 1022

54. KristiansenLV

HuertaI

BeneytoM

Meador-WoodruffJH

2007 NMDA receptors and schizophrenia. Curr Opin Pharmacol 7 48 55

55. BlekhmanR

ManO

HerrmannL

BoykoAR

IndapA

2008 Natural selection on genes that underlie human disease susceptibility. Curr Biol 18 883 889

56. SabetiPC

SchaffnerSF

FryB

LohmuellerJ

VarillyP

2006 Positive natural selection in the human lineage. Science 312 1614 1620

57. BrachyaG

YanayC

LinialM

2006 Synaptic proteins as multi-sensor devices of neurotransmission. BMC Neurosci 7 Suppl 1 S4

58. CollinsMO

YuL

CobaMP

HusiH

CampuzanoI

2005 Proteomic analysis of in vivo phosphorylated synaptic proteins. J Biol Chem 280 5972 5982

59. CroningMD

MarshallMC

McLarenP

ArmstrongJD

GrantSG

2009 G2Cdb: the Genes to Cognition database. Nucleic Acids Res 37 D846 851

60. TakamoriS

HoltM

SteniusK

LemkeEA

GronborgM

2006 Molecular anatomy of a trafficking organelle. Cell 127 831 846

61. TrinidadJC

SpechtCG

ThalhammerA

SchoepferR

BurlingameAL

2006 Comprehensive identification of phosphorylation sites in postsynaptic density preparations. Mol Cell Proteomics 5 914 922

62. ZhangW

ZhangY

ZhengH

ZhangC

XiongW

2007 SynDB: a Synapse protein DataBase based on synapse ontology. Nucleic Acids Res 35 D737 741

63. LaumonnierF

CuthbertPC

GrantSG

2007 The role of neuronal complexes in human X-linked brain diseases. Am J Hum Genet 80 205 220

64. GrantSG

MarshallMC

PageKL

CumiskeyMA

ArmstrongJD

2005 Synapse proteomics of multiprotein complexes: en route from genes to nervous system diseases. Hum Mol Genet 14 Spec No. 2 R225 234

65. GauthierJ

BonnelA

St-OngeJ

KaremeraL

LaurentS

2005 NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population. Am J Med Genet B Neuropsychiatr Genet 132B 74 75

66. DeLisiLE

ShawSH

CrowTJ

ShieldsG

SmithAB

2002 A genome-wide scan for linkage to chromosomal regions in 382 sibling pairs with schizophrenia or schizoaffective disorder. Am J Psychiatry 159 803 812

67. JooberR

RouleauGA

LalS

DixonM

O'DriscollG

2002 Neuropsychological impairments in neuroleptic-responder vs. -nonresponder schizophrenic patients and healthy volunteers. Schizophr Res 53 229 238

68. GochmanPA

GreensteinD

SpornA

GogtayN

NicolsonR

2004 Childhood onset schizophrenia: familial neurocognitive measures. Schizophr Res 71 43 47

69. GourionD

GoldbergerC

BourdelMC

BayleFJ

MilletB

2003 Neurological soft-signs and minor physical anomalies in schizophrenia: differential transmission within families. Schizophr Res 63 181 187

70. LucaD

RingquistS

KleiL

LeeAB

GiegerC

2008 On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants. Am J Hum Genet 82 453 463