Grant Detail
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Genetic Studies in Neurological Disorders
1 March 1997 - 31 March 2009
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
Total Funding: $ 18,660,474
This is a competitive renewal of our program project to dissect the genetics of neurological diseases. During the first four years of the most recent funding period, we have made significant progress in each of our projects, and published 53 papers and have 3 in press. With this resubmission, we will focus our attention completely on the difficult and very important problem of the genetics of autism, one of the most common neurodevelopmental disorders. To do this, we will integrate the latest in genetic and genomic technologies with detailed clinical assessments. "Genetic Studies in Autism on Chromosome 7," is a continuation of efforts from the current Program Project. We will examine in detail the most consistently identified chromosomal region in autism, 7q21-32. We will apply three complementary approaches that include a comprehensive SNP scan of the region, specific testing of the REELIN gene, and characterization of the translocation breakpoints identified in an autism multiplex family. "Restricted and Repetitive Behaviors in Young Children with Autism", will characterize the extent and trajectory of a critical behavioral aspect of autism. Understanding the emergence and trajectory of these behaviors has significant implications for directing interventional treatment. "Neurogenetics of Candidate Systems in Autism" will use a functional candidate approach to determine the role(s) of genes underlying the serotonin and GABA systems, two systems known to affect behaviors exhibited by autistic children. We will characterize the variation in each gene using a comprehensive set of SNPs defining haplotype blocks, and examine their potential role individually and jointly in autism and in specific subsets of autistic behavior. An administrative core, a clinical and bioinformatics core, and a molecular analysis core will serve these three Projects. This integrated approach toward autism will provide significant insight into the role that specific genes play in this complex genetic disorder.
148 Resulting Publications
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1.
2013Athena Hadjixenofontos; Michael A Schmidt; Patrice L Whitehead; Ioanna Konidari; Dale J Hedges; Harry H Wright; Ruth K Abramson; Ramkumar Menon; Scott M Williams; Michael L Cuccaro; et al.
Evaluating mitochondrial DNA variation in autism spectrum disorders.
Annals of human genetics 2013;77(1):9-21. -
2.
2012Holly N Cukier; Joycelyn M Lee; Deqiong Ma; Juan I Young; Vera Mayo; Brittany L Butler; Sandhya S Ramsook; Joseph A Rantus; Alexander J Abrams; Patrice L Whitehead; et al.
Autism research : official journal of the International Society for Autism Research 2012;5(6):385-97. -
3.
2012Richard Anney; Lambertus Klei; Dalila Pinto; Joana Almeida; Elena Bacchelli; Gillian Baird; Nadia Bolshakova; Sven Bölte; Patrick F Bolton; Thomas Bourgeron; et al.
Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
Human molecular genetics 2012;21(21):4781-92. -
4.
2012Michael L Cuccaro; Roberto F Tuchman; Kara L Hamilton; Harry H Wright; Ruth K Abramson; Jonathan L Haines; John R Gilbert; Margaret Pericak-Vance
Journal of autism and developmental disorders 2012;42(8):1630-41. -
5.
2012Anthony J Griswold; Deqiong Ma; Holly N Cukier; Laura D Nations; Mike A Schmidt; Ren-Hua Chung; James M Jaworski; Daria Salyakina; Ioanna Konidari; Patrice L Whitehead; et al.
Human molecular genetics 2012;21(15):3513-23. -
6.
2012Jillian P Casey; Tiago Magalhaes; Judith M Conroy; Regina Regan; Naisha Shah; Richard Anney; Denis C Shields; Brett S Abrahams; Joana Almeida; Elena Bacchelli; et al.
Human genetics 2012;131(4):565-79. -
7.
2011Anthony J Griswold; Deqiong Ma; Stephanie J Sacharow; Joycelyn L Robinson; James M Jaworski; Harry H Wright; Ruth K Abramson; Helle Lybaek; Nina Øyen; Michael L Cuccaro; et al.
Autism research : official journal of the International Society for Autism Research 2011;4(3):221-7. -
8.
2011Holly N Cukier; Daria Salyakina; Sarah F Blankstein; Joycelyn L Robinson; Stephanie Sacharow; Deqiong Ma; Harry H Wright; Ruth K Abramson; Ramkumar Menon; Scott M Williams; et al.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2011;156B(4):493-501. -
9.
2011Brian L Yaspan; William S Bush; Eric S Torstenson; Deqiong Ma; Margaret A Pericak-Vance; Marylyn D Ritchie; James S Sutcliffe; Jonathan L Haines
Genetic analysis of biological pathway data through genomic randomization.
Human genetics 2011;129(5):563-71. -
10.
2011Daria Salyakina; Holly N Cukier; Joycelyn M Lee; Stephanie Sacharow; Laura D Nations; Deqiong Ma; James M Jaworski; Ioanna Konidari; Patrice L Whitehead; Harry H Wright; et al.
PloS one 2011;6(10):e26049. -
11.
2010D Salyakina; D Q Ma; J M Jaworski; I Konidari; P L Whitehead; R Henson; D Martinez; J L Robinson; S Sacharow; H H Wright; et al.
Variants in several genomic regions associated with asperger disorder.
Autism research : official journal of the International Society for Autism Research 2010;3(6):303-10. -
12.
2010Richard Anney; Lambertus Klei; Dalila Pinto; Regina Regan; Judith Conroy; Tiago R Magalhaes; Catarina Correia; Brett S Abrahams; Nuala Sykes; Alistair T Pagnamenta; et al.
A genome-wide scan for common alleles affecting risk for autism.
Human molecular genetics 2010;19(20):4072-82. -
13.
2010Dalila Pinto; Alistair T Pagnamenta; Lambertus Klei; Richard Anney; Daniele Merico; Regina Regan; Judith Conroy; Tiago R Magalhaes; Catarina Correia; Brett S Abrahams; et al.
Functional impact of global rare copy number variation in autism spectrum disorders.
Nature 2010;466(7304):368-72. -
14.
2010Holly N Cukier; Raquel Rabionet; Ioanna Konidari; Melissa Y Rayner-Evans; Mary L Baltos; Harry H Wright; Ruth K Abramson; Eden R Martin; Michael L Cuccaro; Margaret A Pericak-Vance; et al.
Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.
Neurogenetics 2010;11(3):291-303. -
15.
2010D Q Ma; R Rabionet; I Konidari; J Jaworski; H N Cukier; H H Wright; R K Abramson; J R Gilbert; M L Cuccaro; M A Pericak-Vance; et al.
Association and gene-gene interaction of SLC6A4 and ITGB3 in autism.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010;153B(2):477-83. -
16.
2009N C Schnetz-Boutaud; B M Anderson; K D Brown; H H Wright; R K Abramson; M L Cuccaro; J R Gilbert; M A Pericak-Vance; J L Haines
Examination of tetrahydrobiopterin pathway genes in autism.
Genes, brain, and behavior 2009;8(8):753-7. -
17.
2009Holly N Cukier; David A Skaar; Melissa Y Rayner-Evans; Ioanna Konidari; Patrice L Whitehead; James M Jaworski; Michael L Cuccaro; Margaret A Pericak-Vance; John R Gilbert
Autism research : official journal of the International Society for Autism Research 2009;2(5):258-66. -
18.
2009B M Anderson; N C Schnetz-Boutaud; J Bartlett; A M Wotawa; H H Wright; R K Abramson; M L Cuccaro; J R Gilbert; M A Pericak-Vance; J L Haines
Examination of association of genes in the serotonin system to autism.
Neurogenetics 2009;10(3):209-16. -
19.
2009Kai Wang; Haitao Zhang; Deqiong Ma; Maja Bucan; Joseph T Glessner; Brett S Abrahams; Daria Salyakina; Marcin Imielinski; Jonathan P Bradfield; Patrick M A Sleiman; et al.
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
Nature 2009;459(7246):528-33. -
20.
2009Deqiong Ma; Daria Salyakina; James M Jaworski; Ioanna Konidari; Patrice L Whitehead; Ashley N Andersen; Joshua D Hoffman; Susan H Slifer; Dale J Hedges; Holly N Cukier; et al.
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.
Annals of human genetics 2009;73(Pt 3):263-73. -
21.
2009Holly N Cukier; Margaret A Pericak-Vance; John R Gilbert; Dale J Hedges
Analytical biochemistry 2009;386(2):288-90. -
22.
2009S Züchner; J R Wendland; A E Ashley-Koch; A L Collins; K N Tran-Viet; K Quinn; K C Timpano; M L Cuccaro; M A Pericak-Vance; D C Steffens; et al.
Multiple rare SAPAP3 missense variants in trichotillomania and OCD.
Molecular psychiatry 2009;14(1):6-9. -
23.
2009Simon G Gregory; Jessica J Connelly; Aaron J Towers; Jessica Johnson; Dhani Biscocho; Christina A Markunas; Carla Lintas; Ruth K Abramson; Harry H Wright; Peter Ellis; et al.
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
BMC medicine 2009;7():62. -
24.
2009Dale J Hedges; Dale Hedges; Dan Burges; Eric Powell; Cherylyn Almonte; Jia Huang; Stuart Young; Benjamin Boese; Mike Schmidt; Margaret A Pericak-Vance; et al.
Exome sequencing of a multigenerational human pedigree.
PloS one 2009;4(12):e8232. -
25.
2008B M Anderson; N Schnetz-Boutaud; J Bartlett; H H Wright; R K Abramson; M L Cuccaro; J R Gilbert; M A Pericak-Vance; J L Haines
Examination of association to autism of common genetic variationin genes related to dopamine.
Autism research : official journal of the International Society for Autism Research 2008;1(6):364-9. -
26.
2007Michael L Cuccaro; Jason Brinkley; Ruth K Abramson; Alicia Hall; Harry H Wright; John P Hussman; John R Gilbert; Margaret A Pericak-Vance
Autism in African American families: clinical-phenotypic findings.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(8):1022-6. -
27.
2007Jason Brinkley; Laura Nations; Ruth K Abramson; Alicia Hall; Harry H Wright; Robin Gabriels; John R Gilbert; Margaret A O Pericak-Vance; Michael L Cuccaro
Factor analysis of the aberrant behavior checklist in individuals with autism spectrum disorders.
Journal of autism and developmental disorders 2007;37(10):1949-59. -
28.
2007Pu-Ting Xu; Yi-Ju Li; Xue-Jun Qin; Charles Kroner; Anya Green-Odlum; Hong Xu; Tian-Yuan Wang; Donald E Schmechel; Christine M Hulette; John Ervin; et al.
Molecular and cellular neurosciences 2007;36(3):313-31. -
29.
2007Allison E Ashley-Koch; James Jaworski; De Qiong Ma; Hao Mei; Marylyn D Ritchie; David A Skaar; G Robert Delong; Gordon Worley; Ruth K Abramson; Harry H Wright; et al.
Investigation of potential gene-gene interactions between APOE and RELN contributing to autism risk.
Psychiatric genetics 2007;17(4):221-6. -
30.
2007D Q Ma; M L Cuccaro; J M Jaworski; C S Haynes; D A Stephan; J Parod; R K Abramson; H H Wright; J R Gilbert; J L Haines; et al.
Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14.
Molecular psychiatry 2007;12(4):376-84. -
31.
2007Peter Szatmari; Andrew D Paterson; Lonnie Zwaigenbaum; Wendy Roberts; Jessica Brian; Xiao-Qing Liu; John B Vincent; Jennifer L Skaug; Ann P Thompson; et al.
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Nature genetics 2007;39(3):319-28. -
32.
2006Abee L Boyles; David S Enterline; Preston H Hammock; Deborah G Siegel; Susan H Slifer; Lorraine Mehltretter; John R Gilbert; Diane Hu-Lince; Dietrich Stephan; Ulrich Batzdorf; et al.
American journal of medical genetics. Part A 2006;140(24):2776-85. -
33.
2006Ann L Collins; Deqiong Ma; Patrice L Whitehead; Eden R Martin; Harry H Wright; Ruth K Abramson; John P Hussman; Jonathan L Haines; Michael L Cuccaro; John R Gilbert; et al.
Investigation of autism and GABA receptor subunit genes in multiple ethnic groups.
Neurogenetics 2006;7(3):167-74. -
34.
2006Demetra S Stamm; Evadnie Rampersaud; Susan H Slifer; Lorraine Mehltretter; Deborah G Siegel; Jianzhen Xie; Diane Hu-Lince; David W Craig; Dietrich A Stephan; Timothy M George; et al.
Birth defects research. Part A, Clinical and molecular teratology 2006;76(6):499-505. -
35.
2006Stephan Züchner; Melanie E Kail; Martha A Nance; Perry C Gaskell; Ingrid K Svenson; Douglas A Marchuk; Margaret A Pericak-Vance; Allison E Ashley-Koch
A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12.
Neurogenetics 2006;7(2):127-9. -
36.
2006Raquel Rabionet; Jacob L McCauley; James M Jaworski; Allison E Ashley-Koch; Eden R Martin; James S Sutcliffe; Jonathan L Haines; G Robert DeLong; Ruth K Abramson; Harry H Wright; et al.
Lack of association between autism and SLC25A12.
The American journal of psychiatry 2006;163(5):929-31. -
37.
2006A E Ashley-Koch; H Mei; J Jaworski; D Q Ma; M D Ritchie; M M Menold; G R Delong; R K Abramson; H H Wright; J P Hussman; et al.
Annals of human genetics 2006;70(Pt 3):281-92. -
38.
2006Linda Ercoli; Prabha Siddarth; Sung-Cheng Huang; Karen Miller; Susan Y Bookheimer; Benjamin C Wright; Michael E Phelps; Gary Small
Archives of general psychiatry 2006;63(4):442-8. -
39.
2006Stephan Züchner; Peter De Jonghe; Albena Jordanova; Kristl G Claeys; Velina Guergueltcheva; Sylvia Cherninkova; Steven R Hamilton; Greg Van Stavern; Karen M Krajewski; Jeffery Stajich; et al.
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
Annals of neurology 2006;59(2):276-81. -
40.
2005E Rampersaud; A G Bassuk; D S Enterline; T M George; D G Siegel; E C Melvin; J Aben; J Allen; A Aylsworth; T Brei; et al.
Journal of medical genetics 2005;42(12):940-6. -
41.
2005Ingrid K Svenson; Mark T Kloos; Amy Jacon; Carol Gallione; April C Horton; Margaret A Pericak-Vance; Michael D Ehlers; Douglas A Marchuk
Neurogenetics 2005;6(3):135-41. -
42.
2005D Q Ma; P L Whitehead; M M Menold; E R Martin; A E Ashley-Koch; H Mei; M D Ritchie; G R Delong; R K Abramson; H H Wright; et al.
American journal of human genetics 2005;77(3):377-88. -
43.
2005Kristen L Deak; Abee L Boyles; Heather C Etchevers; Elizabeth C Melvin; Deborah G Siegel; Felicia L Graham; Susan H Slifer; David S Enterline; Timothy M George; Michel Vekemans; et al.
Human genetics 2005;117(2-3):133-42. -
44.
2005D A Skaar; Y Shao; J L Haines; J E Stenger; J Jaworski; E R Martin; G R DeLong; J H Moore; J L McCauley; J S Sutcliffe; et al.
Analysis of the RELN gene as a genetic risk factor for autism.
Molecular psychiatry 2005;10(6):563-71. -
45.
2005D Q Ma; J Jaworski; M M Menold; S Donnelly; R K Abramson; H H Wright; G R Delong; J R Gilbert; M A Pericak-Vance; Michael L Cuccaro
Ordered-subset analysis of savant skills in autism for 15q11-q13.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2005;135B(1):38-41. -
46.
2005K L Bastress; J M Stajich; M C Speer; J R Gilbert
Neuromuscular disorders : NMD 2005;15(4):316-20. -
47.
2005Jacob L McCauley; Chun Li; Lan Jiang; Lana M Olson; Genea Crockett; Kimberly Gainer; Susan E Folstein; Jonathan L Haines; James S Sutcliffe
BMC medical genetics 2005;6():1. -
48.
2005Judith E Stenger; Hong Xu; Carol Haynes; Elizabeth R Hauser; Margaret Pericak-Vance; Pascal J Goldschmidt-Clermont; Jeffery M Vance
BMC bioinformatics 2005;6():95. -
49.
2005Abee L Boyles; William K Scott; Eden R Martin; Silke Schmidt; Yi-Ju Li; Allison Ashley-Koch; Meredyth P Bass; Michael Schmidt; Margaret A Pericak-Vance; Marcy C Speer; et al.
Human heredity 2005;59(4):220-7. -
50.
2004Raquel Rabionet; James M Jaworski; Allison E Ashley-Koch; Eden R Martin; James S Sutcliffe; Jonathan L Haines; G Robert Delong; Ruth K Abramson; Harry H Wright; Michael L Cuccaro; et al.
Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes.
Neuroscience letters 2004;372(3):209-14. -
51.
2004Ingrid K Svenson; Mark T Kloos; P Craig Gaskell; Martha A Nance; James Y Garbern; Shin-ichi Hisanaga; Margaret A Pericak-Vance; Allison E Ashley-Koch; Douglas A Marchuk
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
Neurogenetics 2004;5(3):157-64. -
52.
2004Joelle M van der Walt; Maher A Noureddine; Raja Kittappa; Michael A Hauser; William K Scott; Ron McKay; Fengyu Zhang; Jeffrey M Stajich; Kenichiro Fujiwara; Burton L Scott; et al.
American journal of human genetics 2004;74(6):1121-7. -
53.
2004B V North; D Curtis; E R Martin; E H Lai; A D Roses; P C Sham
Annals of human genetics 2004;68(Pt 3):240-8. -
54.
2004K L Raiford; Y Shao; I C Allen; E R Martin; M M Menold; H H Wright; R K Abramson; G Worley; G R DeLong; J M Vance; et al.
No association between the APOE gene and autism.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;125B(1):57-60. -
55.
2003Yi-Ju Li; Sofia A Oliveira; Puting Xu; Eden R Martin; Judith E Stenger; Clemens R Scherzer; Michael A Hauser; William K Scott; Gary W Small; Martha A Nance; et al.
Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease.
Human molecular genetics 2003;12(24):3259-67. -
56.
2003Linda M Ercoli; Prabha Siddarth; Jennifer J Dunkin; Jennifer Bramen; Gary W Small
MMSE items predict cognitive decline in persons with genetic risk for Alzheimer's disease.
Journal of geriatric psychiatry and neurology 2003;16(2):67-73. -
57.
2003J M van der Walt; E R Martin; W K Scott; F Zhang; M A Nance; R L Watts; J P Hubble; J L Haines; W C Koller; K Lyons; et al.
Genetic polymorphisms of the N-acetyltransferase genes and risk of Parkinson's disease.
Neurology 2003;60(7):1189-91. -
58.
2003Joelle M van der Walt; Kristin K Nicodemus; Eden R Martin; William K Scott; Martha A Nance; Ray L Watts; Jean P Hubble; Jonathan L Haines; William C Koller; Kelly Lyons; et al.
Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.
American journal of human genetics 2003;72(4):804-11. -
59.
2003Yujun Shao; M L Cuccaro; E R Hauser; K L Raiford; M M Menold; C M Wolpert; S A Ravan; L Elston; K Decena; S L Donnelly; et al.
Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes.
American journal of human genetics 2003;72(3):539-48. -
60.
2003Regina M Carney; Chantelle M Wolpert; Sarah A Ravan; Mona Shahbazian; Allison Ashley-Koch; Michael L Cuccaro; Jeffery M Vance; Margaret A Pericak-Vance
Identification of MeCP2 mutations in a series of females with autistic disorder.
Pediatric neurology 2003;28(3):205-11. -
61.
2002Michael A Hauser; Cecilia B Conde; Valeria Kowaljow; Guillermo Zeppa; Ana L Taratuto; Udana M Torian; Jeffery Vance; Margaret A Pericak-Vance; Marcy C Speer; Alberto L Rosa
myotilin Mutation found in second pedigree with LGMD1A.
American journal of human genetics 2002;71(6):1428-32. -
62.
2002Evan Reid; Mark Kloos; Allison Ashley-Koch; Lori Hughes; Simon Bevan; Ingrid K Svenson; Felicia Lennon Graham; Perry C Gaskell; Andrew Dearlove; Margaret A Pericak-Vance; et al.
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).
American journal of human genetics 2002;71(5):1189-94. -
63.
2002Marcy C Speer; Felicia Lennon Graham; Erin Bonner; Keva Collier; Jeffrey M Stajich; Perry C Gaskell; Margaret A Pericak-Vance; Jeffery M Vance
Neurogenetics 2002;4(2):83-5. -
64.
2002C P Venkatesh; V S Pillai; A Raghunath; V S Prakash; R Vathsala; Margaret A Pericak-Vance; A Kumar
Molecular vision 2002;8():294-7. -
65.
2002Marcy C Speer; Elizabeth C Melvin; Kristi D Viles; Kim A Bauer; Evadnie Rampersaud; Courtney Drake; Timothy M George; David S Enterline; Joanne F Mackey; Gordon Worley; et al.
American journal of medical genetics 2002;110(3):215-8. -
66.
2002Yujun Shao; Kimberly L Raiford; Chantelle M Wolpert; Heidi A Cope; Sarah A Ravan; Allison A Ashley-Koch; Ruth K Abramson; Harry H Wright; Robert G DeLong; John R Gilbert; et al.
Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder.
American journal of human genetics 2002;70(4):1058-61. -
67.
2002Yi-Ju Li; William K Scott; Dale J Hedges; Fengyu Zhang; P Craig Gaskell; Martha A Nance; Ray L Watts; Jean P Hubble; William C Koller; Rajesh Pahwa; et al.
Age at onset in two common neurodegenerative diseases is genetically controlled.
American journal of human genetics 2002;70(4):985-93. -
68.
2002Yujun Shao; Chantelle M Wolpert; Kimberly L Raiford; Marisa M Menold; Shannon L Donnelly; Sarah A Ravan; Meredyth P Bass; Cate McClain; Lennart von Wendt; Jeffery M Vance; et al.
Genomic screen and follow-up analysis for autistic disorder.
American journal of medical genetics 2002;114(1):99-105. -
69.
2002Pinky A McCoy; Yujun Shao; Chantelle M Wolpert; Shannon L Donnelly; Allison Ashley-Koch; Heidi L Abel; Sarah A Ravan; Ruth K Abramson; Harry H Wright; G Robert DeLong; et al.
No association between the WNT2 gene and autistic disorder.
American journal of medical genetics 2002;114(1):106-9. -
70.
2001I K Svenson; A E Ashley-Koch; M A Pericak-Vance; D A Marchuk
A second leaky splice-site mutation in the spastin gene.
American journal of human genetics 2001;69(6):1407-9. -
71.
2001W K Scott; M A Nance; R L Watts; J P Hubble; W C Koller; K Lyons; R Pahwa; M B Stern; A Colcher; B C Hiner; et al.
Complete genomic screen in Parkinson disease: evidence for multiple genes.
JAMA : the journal of the American Medical Association 2001;286(18):2239-44. -
72.
2001E R Martin; W K Scott; M A Nance; R L Watts; J P Hubble; W C Koller; K Lyons; R Pahwa; M B Stern; A Colcher; et al.
Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease.
JAMA : the journal of the American Medical Association 2001;286(18):2245-50. -
73.
2001G W Small; S T Chen; S Komo; L Ercoli; K Miller; P Siddarth; A Kaplan; D Dorsey; H Lavretsky; S Saxena; et al.
Memory self-appraisal and depressive symptoms in people at genetic risk for Alzheimer's disease.
International journal of geriatric psychiatry 2001;16(11):1071-7. -
74.
2001L Rampoldi; C Dobson-Stone; J P Rubio; A Danek; R M Chalmers; N W Wood; C Verellen; X Ferrer; A Malandrini; G M Fabrizi; et al.
A conserved sorting-associated protein is mutant in chorea-acanthocytosis.
Nature genetics 2001;28(2):119-20. -
75.
2001I K Svenson; A E Ashley-Koch; P C Gaskell; T J Riney; W J Cumming; H M Kingston; E L Hogan; R M Boustany; J M Vance; M A Nance; et al.
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
American journal of human genetics 2001;68(5):1077-85. -
76.
2001C M Wolpert; S L Donnelly; M L Cuccaro; D J Hedges; C P Poole; H H Wright; J R Gilbert; M A Pericak-Vance
De novo partial duplication of chromosome 7p in a male with autistic disorder.
American journal of medical genetics 2001;105(3):222-5. -
77.
2001A Ashley-Koch; E R Bonner; P C Gaskell; S G West; R Tim; C M Wolpert; R Jones; C D Farrell; M Nance; I K Svenson; et al.
Neurogenetics 2001;3(2):91-7. -
78.
2001M M Menold; Y Shao; C M Wolpert; S L Donnelly; K L Raiford; E R Martin; S A Ravan; R K Abramson; H H Wright; G R Delong; et al.
Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder.
Journal of neurogenetics 2001;15(3-4):245-59. -
79.
2000M A Hauser; S K Horrigan; P Salmikangas; U M Torian; K D Viles; R Dancel; R W Tim; A Taivainen; L Bartoloni; J M Gilchrist; et al.
Myotilin is mutated in limb girdle muscular dystrophy 1A.
Human molecular genetics 2000;9(14):2141-7. -
80.
2000E R Martin; E H Lai; J R Gilbert; A R Rogala; A J Afshari; J Riley; K L Finch; J F Stevens; K J Livak; B D Slotterbeck; et al.
American journal of human genetics 2000;67(2):383-94. -
81.
2000M A Nance; F Q Nuttall; M J Econs; K W Lyles; K D Viles; J M Vance; M A Pericak-Vance; M C Speer
Heterogeneity in Paget disease of the bone.
American journal of medical genetics 2000;92(5):303-7. -
82.
2000J R Gilbert; A Kumar; S Newey; N Rao; P Ioannou; H Qiu; D Lin; P Xu; M J Pettenati; M A Pericak-Vance
Physical and cDNA mapping in the DBH region of human chromosome 9q34.
Human heredity 2000;50(3):151-7. -
83.
2000M P Bass; M M Menold; C M Wolpert; S L Donnelly; S A Ravan; E R Hauser; L O Maddox; J M Vance; R K Abramson; H H Wright; et al.
Genetic studies in autistic disorder and chromosome 15.
Neurogenetics 2000;2(4):219-26. -
84.
2000E R Martin; M M Menold; C M Wolpert; M P Bass; S L Donnelly; S A Ravan; A Zimmerman; J R Gilbert; J M Vance; L O Maddox; et al.
American journal of medical genetics 2000;96(1):43-8. -
85.
2000E R Martin; J R Gilbert; E H Lai; J Riley; A R Rogala; B D Slotterbeck; C A Sipe; J M Grubber; L L Warren; P M Conneally; et al.
Analysis of association at single nucleotide polymorphisms in the APOE region.
Genomics 2000;63(1):7-12. -
86.
2000E C Melvin; T M George; G Worley; A Franklin; J Mackey; K Viles; N Shah; C R Drake; D S Enterline; D McLone; et al.
Genetic studies in neural tube defects. NTD Collaborative Group.
Pediatric neurosurgery 2000;32(1):1-9. -
87.
1999A Ashley-Koch; C M Wolpert; M M Menold; L Zaeem; S Basu; S L Donnelly; S A Ravan; C M Powell; M B Qumsiyeh; A S Aylsworth; et al.
Genetic studies of autistic disorder and chromosome 7.
Genomics 1999;61(3):227-36. -
88.
1999M C Speer; J M Vance; J M Grubber; F Lennon Graham; J M Stajich; K D Viles; A Rogala; R McMichael; J Chutkow; C Goldsmith; et al.
Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7.
American journal of human genetics 1999;64(2):556-62. -
89.
1999J L Anderson; E R Hauser; E R Martin; W K Scott; A Ashley-Koch; K J Kim; S A Monks; C S Haynes; M C Speer; M A Pericak-Vance
Complete genomic screen for disease susceptibility loci in nuclear families.
Genetic epidemiology 1999;17 Suppl 1():S473-8. -
90.
1998L Bartoloni; S K Horrigan; K D Viles; J M Gilchrist; J M Stajich; J M Vance; L H Yamaoka; M A Pericak-Vance; C A Westbrook; M C Speer
Genomics 1998;54(2):250-5. -
91.
1998N P Liu; J Baldwin; F Jonasson; S Dew-Knight; J M Stajich; F Lennon; M A Pericak-Vance; G K Klintworth; J M Vance
American journal of human genetics 1998;63(3):912-7. -
92.
1998J R Gilbert; V Guy; A Kumar; C Wolpert; R Kandt; A Aylesworth; A D Roses; M A Pericak-Vance
Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.
Neurogenetics 1998;1(4):267-72. -
93.
1998M C Speer; J M Vance; F Lennon-Graham; J M Stajich; K D Viles; J M Gilchrist; V Nigro; R McMichael; J G Chutkow; L Bartoloni; et al.
Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families.
Human heredity 1998;48(4):179-84. -
94.
1998T C Pan; R Z Zhang; M A Pericak-Vance; R Tandan; T Fries; J M Stajich; K Viles; J M Vance; M L Chu; M C Speer
Human molecular genetics 1998;7(5):807-12. -
95.
1998T Ikeuchi; K Sanpei; H Takano; H Sasaki; K Tashiro; G Cancel; A Brice; T D Bird; G D Schellenberg; M A Pericak-Vance; et al.
A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q.
Genomics 1998;49(2):321-6. -
96.
1998C T Falk; J M Gilchrist; M A Pericak-Vance; M C Speer
American journal of human genetics 1998;62(4):941-9. -
97.
1998M C Speer; J M Gilchrist; J M Stajich; P C Gaskell; C A Westbrook; S K Horrigan; L Bartoloni; L H Yamaoka; W K Scott; M A Pericak-Vance
Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy.
Journal of medical genetics 1998;35(4):305-8. -
98.
1998K F Damji; C J Gallione; R R Allingham; B Slotterbeck; A E Guttmacher; K A Pasyk; J M Vance; M A Pericak-Vance; M C Speer; D A Marchuk
Human genetics 1998;102(2):207-12. -
99.
1997J P Rubio; A Danek; C Stone; R Chalmers; N Wood; C Verellen; X Ferrer; A Malandrini; G M Fabrizi; M Manfredi; et al.
Chorea-acanthocytosis: genetic linkage to chromosome 9q21.
American journal of human genetics 1997;61(4):899-908. -
100.
1997W K Scott; P C Gaskell; F Lennon; C M Wolpert; M M Menold; A S Aylsworth; C Warner; C D Farrell; R M Boustany; S G Albright; et al.
Neurogenetics 1997;1(2):95-102. -
101.
1997M C Speer; M A Pericak-Vance; J M Stajich; J Sarrica; M Jordan; A D Roses; J M Vance; J R Gilbert
Further exclusion of FSHD1B from the telomeric region of 10q.
Neurogenetics 1997;1(2):151-2. -
102.
1997M A De La Paz; M A Pericak-Vance; F Lennon; J L Haines; J M Seddon
Exclusion of TIMP3 as a candidate locus in age-related macular degeneration.
Investigative ophthalmology & visual science 1997;38(6):1060-5. -
103.
1997W H Raskind; M A Pericak-Vance; F Lennon; J Wolff; H P Lipe; T D Bird
American journal of medical genetics 1997;74(1):26-36. -
104.
1997A Kumar; R S Kandt; C Wolpert; A D Roses; M A Pericak-Vance; J R Gilbert
A novel splice site mutation (156 + 1G-->A) in the TSC2 gene.
Human mutation 1997;9(1):64-5. -
105.
1997W K Scott; L H Yamaoka; P A Locke; B L Rosi; P C Gaskell; A M Saunders; P M Conneally; G W Small; L A Farrer; J H Growdon; et al.
Genetic epidemiology 1997;14(3):307-15. -
106.
1997W K Scott; M C Speer; S M Leal; L M Brzustowicz; C S Haynes; M A Pericak-Vance
False positive rates in a genomic screen for complex quantitative traits.
Genetic epidemiology 1997;14(6):891-6. -
107.
1996J L Haines; M L Pritchard; A M Saunders; J M Schildkraut; J H Growdon; P C Gaskell; L A Farrer; S A Auerbach; J F Gusella; P A Locke; et al.
No association between alpha 1-antichymotrypsin and familial Alzheimer's disease.
Annals of the New York Academy of Sciences 1996;802():35-41. -
108.
1996L H Yamaoka; K A Welsh-Bohmer; C M Hulette; P C Gaskell; M Murray; J L Rimmler; B R Helms; M Guerra; A D Roses; D E Schmechel; et al.
American journal of human genetics 1996;59(6):1306-12. -
109.
1996J L Haines; M Ter-Minassian; A Bazyk; J F Gusella; D J Kim; H Terwedow; M A Pericak-Vance; J B Rimmler; C S Haynes; A D Roses; et al.
Nature genetics 1996;13(4):469-71. -
110.
1996M C Speer; R Tandan; P N Rao; T Fries; J M Stajich; P A Bolhuis; G J Jöbsis; J M Vance; K D Viles; K Sheffield; et al.
Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37.
Human molecular genetics 1996;5(7):1043-6. -
111.
1996M A Pericak-Vance; C C Johnson; J B Rimmler; A M Saunders; L C Robinson; E G D'Hondt; C E Jackson; J L Haines
Alzheimer's disease and apolipoprotein E-4 allele in an Amish population.
Annals of neurology 1996;39(6):700-4. -
112.
1996M L Pritchard; A M Saunders; P C Gaskell; G W Small; P M Conneally; B Rosi; L H Yamaoka; A D Roses; J L Haines; M A Pericak-Vance
Neuroscience letters 1996;209(2):105-8. -
113.
1996J L Haines; M L Pritchard; A M Saunders; J M Schildkraut; J H Growdon; P C Gaskell; L A Farrer; S A Auerbach; J F Gusella; P A Locke; et al.
No genetic effect of alpha1-antichymotrypsin in Alzheimer disease.
Genomics 1996;33(1):53-6. -
114.
1996K F Damji; R R Allingham; S C Pollock; K Small; K E Lewis; J M Stajich; L H Yamaoka; J M Vance; M A Pericak-Vance
Archives of neurology 1996;53(4):338-44. -
115.
1996J R Burke; J J Enghild; M E Martin; Y S Jou; R M Myers; A D Roses; J M Vance; W J Strittmatter
Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH.
Nature medicine 1996;2(3):347-50. -
116.
1995A Kumar; R S Kandt; C Wolpert; A D Roses; M A Pericak-Vance; J R Gilbert
Mutation analysis of the TSC2 gene in an African-American family.
Human molecular genetics 1995;4(12):2295-8. -
117.
1995K Ben Othmane; M C Speer; J Stauffer; S Blel; L Middleton; C Ben Hamida; A Etribi; D Loeb; F Hentati; A D Roses
American journal of human genetics 1995;57(3):732-4. -
118.
1995M C Speer; L H Yamaoka; J Stajich; K Lewis; M A Pericak-Vance; R Stacy; R Tandan; T J Fries
Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A.
American journal of medical genetics 1995;58(2):197-8. -
119.
1995A Kumar; C Wolpert; R S Kandt; J Segal; J Pufky; A D Roses; M A Pericak-Vance; J R Gilbert
A de novo frame-shift mutation in the tuberin gene.
Human molecular genetics 1995;4(8):1471-2. -
120.
1995K B Othmane; D Loeb; R Hayworth-Hodgte; F Hentati; N Rao; A D Roses; M Ben Hamida; M A Pericak-Vance; J M Vance
Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A.
Genomics 1995;28(2):286-90. -
121.
1995E H Corder; A M Saunders; W J Strittmatter; D E Schmechel; P C Gaskell; J B Rimmler; P A Locke; P M Conneally; K E Schmader; R E Tanzi
Neurology 1995;45(7):1323-8. -
122.
1995K W Small; M Stalvey; L Fisher; L Mullen; C Dickel; K Beadles; R Reimer; A Lessner; K Lewis; M A Pericak-Vance
Blepharophimosis syndrome is linked to chromosome 3q.
Human molecular genetics 1995;4(3):443-8. -
123.
1994E H Corder; A M Saunders; N J Risch; W J Strittmatter; D E Schmechel; P C Gaskell; J B Rimmler; P A Locke; P M Conneally; K E Schmader
Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease.
Nature genetics 1994;7(2):180-4. -
124.
1994C Mérette; L M Brzustowicz; R J Daniels; K E Davies; T C Gilliam; J Melki; A Munnich; M A Pericak-Vance; T Siddique; B Voosen
Genomics 1994;21(1):27-33. -
125.
1993K Ben Othmane; F Hentati; F Lennon; C Ben Hamida; S Blel; A D Roses; M A Pericak-Vance; M Ben Hamida; J M Vance
Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.
Human molecular genetics 1993;2(10):1625-8. -
126.
1993M Mullan; S Tsuji; T Miki; T Katsuya; S Naruse; K Kaneko; T Shimizu; T Kojima; I Nakano; T Ogihara
Neurobiology of aging 1993;14(5):407-19. -
127.
1993M Mihovilovic; C Hulette; J Mittelstaedt; C Austin; A D Roses
Annals of the New York Academy of Sciences 1993;681():83-96. -
128.
1992J R Gilbert; J M Stajich; M C Speer; J M Vance; C S Stewart; L H Yamaoka; F Samson; M Fardeau; T G Potter; A D Roses
Linkage studies in facioscapulohumeral muscular dystrophy (FSHD).
American journal of human genetics 1992;51(2):424-7. -
129.
1992K W Small; J L Weber; A Roses; F Lennon; J M Vance; M A Pericak-Vance
North Carolina macular dystrophy is assigned to chromosome 6.
Genomics 1992;13(3):681-5. -
130.
1992A I McClatchey; J Trofatter; D McKenna-Yasek; W Raskind; T Bird; M Pericak-Vance; J Gilchrist; K Arahata; D Radosavljevic; H G Worthen
American journal of human genetics 1992;50(5):896-901. -
131.
1992N J Sharp; J N Kornegay; S D Van Camp; M H Herbstreith; S L Secore; S Kettle; W Y Hung; C D Constantinou; M J Dykstra; A D Roses
Genomics 1992;13(1):115-21. -
132.
1992L J Loprest; M A Pericak-Vance; J Stajich; P C Gaskell; A M Lucas; F Lennon; L H Yamaoka; A D Roses; J M Vance
Neurology 1992;42(3 Pt 1):597-601. -
133.
1992A I McClatchey; P Van den Bergh; M A Pericak-Vance; W Raskind; C Verellen; D McKenna-Yasek; K Rao; J L Haines; T Bird; R H Brown
Cell 1992;68(4):769-74. -
134.
1992M C Speer; C S Haynes; M A Pericak-Vance
Segregation analysis in cutaneous malignant melanoma/dysplastic nevus syndrome families.
Cytogenetics and cell genetics 1992;59(2-3):225-7. -
135.
1991A M Lucas; J M Vance; J M Stajich; A D Roses
A PvuII polymorphism detected by pEW404 (D17S64) on chromosome 17.
Nucleic acids research 1991;19(20):5802. -
136.
1991M A Pericak-Vance; J L Bebout; P C Gaskell; L H Yamaoka; W Y Hung; M J Alberts; A P Walker; R J Bartlett; C A Haynes; K A Welsh
Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage.
American journal of human genetics 1991;48(6):1034-50. -
137.
1991T Siddique; D A Figlewicz; M A Pericak-Vance; J L Haines; G Rouleau; A J Jeffers; P Sapp; W Y Hung; J Bebout; D McKenna-Yasek
The New England journal of medicine 1991;324(20):1381-4. -
138.
1991J M Vance; D Barker; L H Yamaoka; J M Stajich; L Loprest; W Y Hung; K Fischbeck; A D Roses; M A Pericak-Vance
Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.
Genomics 1991;9(4):623-8. -
139.
1991M C Speer; D Goldgaber; L G Goldfarb; A D Roses; M A Pericak-Vance
Genomics 1991;9(2):366-8. -
140.
1991M Mihovilovic; A D Roses
Experimental neurology 1991;111(2):175-80. -
141.
1991N G Laing; A P Walker; P A Akkari; D C Chandler; M G Layton; M E Mears; T Yamada; R J Bartlett; M A Pericak-Vance; W Y Hung
Prenatal diagnosis 1991;11(1):63-7. -
142.
1991R S Kandt; M A Pericak-Vance; W Y Hung; R J Gardner; P E Crossen; M D Nellist; M C Speer; A D Roses
Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14!
Annals of the New York Academy of Sciences 1991;615():284-97. -
143.
1990M C Speer; M A Pericak-Vance; L Yamaoka; W Y Hung; A Ashley; J M Stajich; A D Roses
Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies.
Neurology 1990;40(4):671-6. -
144.
1990J M Vance; K W Small; M A Jones; J M Stajich; L H Yamaoka; A D Roses; W Y Hung; M A Pericak-Vance
Confirmation of linkage in von Hippel-Lindau disease.
Genomics 1990;6(3):565-7. -
145.
1990L H Yamaoka; M A Pericak-Vance; M C Speer; P C Gaskell; J Stajich; C Haynes; W Y Hung; C Laberge; M C Thibault; J Mathieu
Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19.
Neurology 1990;40(2):222-6. -
146.
1989A McConkie-Rosell; Y T Chen; D Harris; M C Speer; M A Pericak-Vance; J H Ding; W E Highsmith; M Knowles; S G Kahler
Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype.
Annals of internal medicine 1989;111(10):797-801. -
147.
1989R S Kandt; M A Pericak-Vance; W Y Hung; R J Gardner; M Nellist; K Phillips; K Warner; M C Speer; P E Crossen; N G Laing
Absence of linkage of ABO blood group locus to familial tuberous sclerosis.
Experimental neurology 1989;104(3):223-8. -
148.
1989J M Vance; G A Nicholson; L H Yamaoka; J Stajich; C S Stewart; M C Speer; W Y Hung; A D Roses; D Barker; M A Pericak-Vance
Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17.
Experimental neurology 1989;104(2):186-9.
Scientific Context
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SCHELLENBERG, GERARD DAVID
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