Search details
1.
Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder.
Neurogenetics
; 19(1): 17-26, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29151244
2.
Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.
Hum Mol Genet
; 24(14): 4006-23, 2015 Jul 15.
Article
in English
| MEDLINE | ID: mdl-25882707
3.
Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias.
PLoS Genet
; 10(9): e1004606, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-25188341
4.
Linkage of familial essential tremor to chromosome 5q35.
Mov Disord
; 31(7): 1059-62, 2016 07.
Article
in English
| MEDLINE | ID: mdl-26918299
5.
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Nat Genet
; 39(3): 319-28, 2007 Mar.
Article
in English
| MEDLINE | ID: mdl-17322880
6.
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
Nature
; 459(7246): 528-33, 2009 May 28.
Article
in English
| MEDLINE | ID: mdl-19404256
7.
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Hum Mol Genet
; 21(15): 3513-23, 2012 Aug 01.
Article
in English
| MEDLINE | ID: mdl-22543975
8.
Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation.
Alzheimers Dement
; 10(3): 360-5, 2014 May.
Article
in English
| MEDLINE | ID: mdl-23727082
9.
Evaluating mitochondrial DNA variation in autism spectrum disorders.
Ann Hum Genet
; 77(1): 9-21, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-23130936
10.
C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.
Ann Hum Genet
; 77(5): 351-63, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23845100
11.
Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
PLoS Genet
; 6(9): e1001130, 2010 Sep 23.
Article
in English
| MEDLINE | ID: mdl-20885792
12.
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
Nat Genet
; 30(1): 21-2, 2002 Jan.
Article
in English
| MEDLINE | ID: mdl-11743579
13.
Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.
Ann Hum Genet
; 76(5): 342-51, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22881374
14.
Mitochondrial haplogroup X is associated with successful aging in the Amish.
Hum Genet
; 131(2): 201-8, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-21750925
15.
Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.
Am J Hum Genet
; 84(1): 35-43, 2009 Jan.
Article
in English
| MEDLINE | ID: mdl-19118814
16.
Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).
Birth Defects Res A Clin Mol Teratol
; 94(9): 683-92, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22806986
17.
Successful aging shows linkage to chromosomes 6, 7, and 14 in the Amish.
Ann Hum Genet
; 75(4): 516-28, 2011 Jul.
Article
in English
| MEDLINE | ID: mdl-21668908
18.
Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21.
Am J Med Genet B Neuropsychiatr Genet
; 156B(4): 493-501, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21480499
19.
Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.
Neurogenetics
; 11(3): 291-303, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-19921286
20.
APOE is not associated with Alzheimer disease: a cautionary tale of genotype imputation.
Ann Hum Genet
; 74(3): 189-94, 2010 May.
Article
in English
| MEDLINE | ID: mdl-20529013