Rita M Cantor

Summary

Affiliation: University of California
Country: USA

Publications

  1. ncbi request reprint Toward localizing genes underlying cerebral asymmetry and mental health
    Susan L Smalley
    Center for Neurobehavioral Genetics, UCLA Neuropsychiatric Institute, David Geffen School of Medicine at UCLA, Los Angeles, California 90024, USA
    Am J Med Genet B Neuropsychiatr Genet 135:79-84. 2005
  2. pmc Replication of autism linkage: fine-mapping peak at 17q21
    Rita M Cantor
    Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095 7088, USA
    Am J Hum Genet 76:1050-6. 2005
  3. pmc Identifying rare variants from exome scans: the GAW17 experience
    Saurabh Ghosh
    Human Genetics Unit, Indian Statistical Institute, Kolkata 700018, India
    BMC Proc 5:S1. 2011
  4. pmc Support for calcium channel gene defects in autism spectrum disorders
    Ake Tzu Hui Lu
    Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90024 7088, USA
    Mol Autism 3:18. 2012
  5. doi request reprint Model-based linkage analysis of a binary trait
    Rita M Cantor
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
    Methods Mol Biol 850:285-300. 2012
  6. ncbi request reprint Systemic lupus erythematosus genome scan: support for linkage at 1q23, 2q33, 16q12-13, and 17q21-23 and novel evidence at 3p24, 10q23-24, 13q32, and 18q22-23
    Rita M Cantor
    David Geffen School of Medicine, University of California, Los Angeles, 90095 7088, USA
    Arthritis Rheum 50:3203-10. 2004
  7. ncbi request reprint Quantitative trait loci for apolipoprotein B, cholesterol, and triglycerides in familial combined hyperlipidemia pedigrees
    Rita M Cantor
    Department of Human Genetics, David Geffen School of Medicine at UCLA, 695 Charles E Young Dr South, Los Angeles, CA 90095 7088, USA
    Arterioscler Thromb Vasc Biol 24:1935-41. 2004
  8. pmc Association testing in a linked region using large pedigrees
    Rita M Cantor
    Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095 7088, USA
    Am J Hum Genet 76:538-42. 2005
  9. pmc Detecting rare variant associations: methods for testing haplotypes and multiallelic genotypes
    Rita M Cantor
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095 7088, USA
    Genet Epidemiol 35:S85-91. 2011
  10. ncbi request reprint Molecular genetics of autism
    Rita M Cantor
    Department of Human Genetics, Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 7088, USA
    Curr Psychiatry Rep 11:137-42. 2009

Detail Information

Publications84

  1. ncbi request reprint Toward localizing genes underlying cerebral asymmetry and mental health
    Susan L Smalley
    Center for Neurobehavioral Genetics, UCLA Neuropsychiatric Institute, David Geffen School of Medicine at UCLA, Los Angeles, California 90024, USA
    Am J Med Genet B Neuropsychiatr Genet 135:79-84. 2005
    ..Because ACA is associated with certain aspects of creativity, such risk genes may also be enhancer genes for creativity...
  2. pmc Replication of autism linkage: fine-mapping peak at 17q21
    Rita M Cantor
    Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095 7088, USA
    Am J Hum Genet 76:1050-6. 2005
    ..Fine mapping at 2-centimorgan (cM) intervals in the combined sample of families with no affected females reveals a linkage peak at 66.85 cM, which places this locus at 17q21...
  3. pmc Identifying rare variants from exome scans: the GAW17 experience
    Saurabh Ghosh
    Human Genetics Unit, Indian Statistical Institute, Kolkata 700018, India
    BMC Proc 5:S1. 2011
    ....
  4. pmc Support for calcium channel gene defects in autism spectrum disorders
    Ake Tzu Hui Lu
    Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90024 7088, USA
    Mol Autism 3:18. 2012
    ..abstract:..
  5. doi request reprint Model-based linkage analysis of a binary trait
    Rita M Cantor
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
    Methods Mol Biol 850:285-300. 2012
    ..We discuss the MLOD program for multipoint linkage analysis, including its relation to LODLINK and the additional file needed. Notes to improve your ability to run the program are included...
  6. ncbi request reprint Systemic lupus erythematosus genome scan: support for linkage at 1q23, 2q33, 16q12-13, and 17q21-23 and novel evidence at 3p24, 10q23-24, 13q32, and 18q22-23
    Rita M Cantor
    David Geffen School of Medicine, University of California, Los Angeles, 90095 7088, USA
    Arthritis Rheum 50:3203-10. 2004
    ..To identify chromosome regions likely to harbor genes that predispose to the development of systemic lupus erythematosus (SLE) by analyzing a full genome scan in nuclear families ascertained for siblings with SLE...
  7. ncbi request reprint Quantitative trait loci for apolipoprotein B, cholesterol, and triglycerides in familial combined hyperlipidemia pedigrees
    Rita M Cantor
    Department of Human Genetics, David Geffen School of Medicine at UCLA, 695 Charles E Young Dr South, Los Angeles, CA 90095 7088, USA
    Arterioscler Thromb Vasc Biol 24:1935-41. 2004
    ..This is a report of a quantitative trait loci (QTL) analysis of FCHL...
  8. pmc Association testing in a linked region using large pedigrees
    Rita M Cantor
    Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095 7088, USA
    Am J Hum Genet 76:538-42. 2005
    ..For the test results to be valid, good estimates of haplotype frequencies must be used in the analysis...
  9. pmc Detecting rare variant associations: methods for testing haplotypes and multiallelic genotypes
    Rita M Cantor
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095 7088, USA
    Genet Epidemiol 35:S85-91. 2011
    ..The presumed model of inheritance and choice of genetic entities are likely to have a strong effect on the outcomes of the analyses...
  10. ncbi request reprint Molecular genetics of autism
    Rita M Cantor
    Department of Human Genetics, Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 7088, USA
    Curr Psychiatry Rep 11:137-42. 2009
    ..As this review indicates, application of these tools paints a portrait of a disorder that is more complex than anticipated...
  11. pmc Prioritizing GWAS results: A review of statistical methods and recommendations for their application
    Rita M Cantor
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
    Am J Hum Genet 86:6-22. 2010
    ..Reviews of published methods with recommendations for their application are provided within the framework for each approach...
  12. pmc Association of the cannabinoid receptor gene (CNR1) with ADHD and post-traumatic stress disorder
    Ake T Lu
    Department of Human Genetics, University of California, Los Angeles, California, USA
    Am J Med Genet B Neuropsychiatr Genet 147:1488-94. 2008
    ..01 for C-G). These observations require replication, however, they suggest that the CNR1 gene may be a risk factor for ADHD and possibly PTSD, and that this gene warrants further investigation for a role in neuropsychiatric disorders...
  13. pmc Identification of two common variants contributing to serum apolipoprotein B levels in Mexicans
    Daphna Weissglas-Volkov
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, Calif 90095 7088, USA
    Arterioscler Thromb Vasc Biol 30:353-9. 2010
    ..This study attempted to determine these genetic factors...
  14. ncbi request reprint Association of the APOLIPOPROTEIN A1/C3/A4/A5 gene cluster with triglyceride levels and LDL particle size in familial combined hyperlipidemia
    Rebecca Mar
    Department of Human Genetics, University of California, Los Angeles, USA
    Circ Res 94:993-9. 2004
    ....
  15. pmc Preferential binding to Elk-1 by SLE-associated IL10 risk allele upregulates IL10 expression
    Daisuke Sakurai
    Division of Rheumatology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America
    PLoS Genet 9:e1003870. 2013
    ..Taken together, our data suggest that preferential binding of activated Elk-1 to the IL10 rs3122605-G allele upregulates IL10 expression and confers increased risk for SLE in European Americans...
  16. pmc Combined analysis of genome scans of dutch and finnish families reveals a susceptibility locus for high-density lipoprotein cholesterol on chromosome 16q
    Paivi Pajukanta
    Department of Human Genetics, David Geffen School of Medicine at the University of California Los Angeles, Los Angeles, CA 90095, USA
    Am J Hum Genet 72:903-17. 2003
    ..1 region, we investigated a novel functional and positional candidate gene, helix/forkhead transcription factor (FOXC2), by sequencing and by genotyping of two single-nucleotide polymorphisms in the families...
  17. pmc Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples
    Daphna Weissglas-Volkov
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 7088, USA
    Circ Cardiovasc Genet 3:31-8. 2010
    ....
  18. ncbi request reprint Linkage and interaction of loci on 1q23 and 16q12 may contribute to susceptibility to systemic lupus erythematosus
    Betty P Tsao
    Department of Medicine, Rehabilitation Center, Room 32 59, 1000 Veteran Avenue, UCLA School of Medicine, Los Angeles, CA 90095 1670, USA
    Arthritis Rheum 46:2928-36. 2002
    ....
  19. pmc Attention deficit hyperactivity disorder: fine mapping supports linkage to 5p13, 6q12, 16p13, and 17p11
    Matthew N Ogdie
    Human Genetics, University of California Los Angeles, Los Angeles, CA, USA
    Am J Hum Genet 75:661-8. 2004
    ..The refinement of linkage within each of these regions lays the foundation for subsequent investigations using association methods to detect risk genes of moderate effect size...
  20. pmc Evidence for sex-specific risk alleles in autism spectrum disorder
    Jennifer L Stone
    Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
    Am J Hum Genet 75:1117-23. 2004
    ..01). These results suggest that sexual dichotomy is an important factor in the genetics of autism; the same strategy can be used to explore this possibility in other complex disorders that exhibit significant sex biases...
  21. pmc Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci
    Daphna Weissglas-Volkov
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Gonda Center, Room 6335B, 695 Charles E Young Drive South, Los Angeles, CA 90095 7088, USA
    J Med Genet 50:298-308. 2013
    ..Yet, these populations remain underinvestigated by genomic studies, and to date, no genome-wide association (GWA) studies have been reported for lipids in these rapidly expanding populations...
  22. ncbi request reprint Weighted variance FBAT: a powerful method for including covariates in FBAT analyses
    Ake Tzu Hui Lu
    Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, 695 Charles E Young Drive South, Los Angeles, CA 90095, USA
    Genet Epidemiol 31:327-37. 2007
    ..A SAS program (www.SAS.com) for generating WVF residuals that can be input to the current versions of the FBAT (www.biostat.harvard.edu/fbat/fbat.html) and PBAT (www.biostat.harvard.edu/clange/default.htm) software is provided...
  23. pmc Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus
    Hui Wu
    Division of Rheumatology, University of California Los Angeles, 1000 Veteran Avenue, Los Angeles, CA 90095, USA
    Proc Natl Acad Sci U S A 104:3961-6. 2007
    ..Our findings reveal that CR2 is a likely susceptibility gene for human lupus at 1q32.2, extending previous studies suggesting that CR2 participates in the pathogenesis of systemic lupus erythematosus...
  24. ncbi request reprint Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1)
    Paivi Pajukanta
    Department of Human Genetics, David Geffen School of Medicine at UCLA, University of California, Los Angeles, California 90095 7088, USA
    Nat Genet 36:371-6. 2004
    ..USF1 encodes a transcription factor known to regulate several genes of glucose and lipid metabolism...
  25. ncbi request reprint High density SNP association study of a major autism linkage region on chromosome 17
    Jennifer L Stone
    Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
    Hum Mol Genet 16:704-15. 2007
    ..34-2.29...
  26. ncbi request reprint Locus for elevated apolipoprotein B levels on chromosome 1p31 in families with familial combined hyperlipidemia
    Hooman Allayee
    Department of Human Genetics, Gonda Genetics Research Center, University of California, Los Angeles 90095, USA
    Circ Res 90:926-31. 2002
    ..This is one of the first loci identified for apoB levels in humans and is the second major locus implicated in the genetic etiology of FCH...
  27. pmc Adipose co-expression networks across Finns and Mexicans identify novel triglyceride-associated genes
    Blake E Haas
    Department of Human Genetics, Gonda Center, Los Angeles, California, 90095 7088, USA
    BMC Med Genomics 5:61. 2012
    ..Fat is stored in the form of TGs in human adipose tissue. We hypothesized that gene co-expression networks in human adipose tissue may be correlated with serum TG levels and help reveal novel genes involved in TG regulation...
  28. pmc MicroRNA-3148 modulates allelic expression of toll-like receptor 7 variant associated with systemic lupus erythematosus
    Yun Deng
    Division of Rheumatology, University of California Los Angeles, Los Angeles, California, USA
    PLoS Genet 9:e1003336. 2013
    ..0×10(-19), OR = 1.25 [1.20-1.32]), which confers allelic effect on transcript turnover via differential binding to the epigenetic factor miR-3148...
  29. pmc Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups
    Kenneth M Kaufman
    Division of Rheumatology and The Center for Autoimmune Genomics and Etiology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
    Ann Rheum Dis 72:437-44. 2013
    ..However, due to the strong linkage disequilibrium between IRAK1 and MECP2, it remains unclear which gene is affected by the underlying causal variant(s) conferring risk of SLE...
  30. pmc Anatomic brain asymmetry in vervet monkeys
    Scott C Fears
    Department of Psychiatry and Biobehavioral Sciences, The Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, United States of America
    PLoS ONE 6:e28243. 2011
    ..We also found that environmental variables more significantly influence the width of the right compared to the left prefrontal lobe...
  31. pmc A gene(s) for all-trans-retinoic acid-induced forelimb defects mapped and confirmed to murine chromosome 11
    Grace S Lee
    Molecular Toxicology Interdepartmental Program, UCLA School of Public Health, Los Angeles, California 90095, USA
    Genetics 170:345-53. 2005
    ..The human syntenic region of this locus has been previously linked to Meckel syndrome; the phenotype includes postaxial polydactyly, an ectopic digital defect hypothesized to be induced by a common molecular pathway with ectrodactyly...
  32. ncbi request reprint Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lupus erythematosus families: increased T allele frequency in systemic lupus erythematosus patients with autoimmune thyroid disease
    Hui Wu
    David Geffen School of Medicine, University of California, Los Angeles, 90095, USA
    Arthritis Rheum 52:2396-402. 2005
    ..We performed family-based association studies of this polymorphism in 4 independent cohorts containing SLE patients and their parents and/or other family members...
  33. pmc A non-human primate system for large-scale genetic studies of complex traits
    Anna J Jasinska
    Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA 90095, USA
    Hum Mol Genet 21:3307-16. 2012
    ..The imminent whole genome sequencing of many of these vervet samples will enhance the power of such investigations by providing a comprehensive catalog of genetic variation...
  34. doi request reprint Genome-wide association study of intelligence: additive effects of novel brain expressed genes
    Sandra K Loo
    University of California Los Angeles, 760 Westwood Plaza, Los Angeles, CA 90024, USA
    J Am Acad Child Adolesc Psychiatry 51:432-440.e2. 2012
    ..The purpose of the present study was to identify common genetic variants that are associated with human intelligence or general cognitive ability...
  35. pmc Association of IRF5 polymorphisms with activation of the interferon alpha pathway
    Ornella J Rullo
    Division of Pediatric Rheumatology, Mattel Children s Hospital UCLA, Los Angeles, CA 90095, USA
    Ann Rheum Dis 69:611-7. 2010
    ..To gain understanding of the effect of IRF5 variation in individuals without SLE, a study was undertaken to examine whether such genetic variation predisposes to activation of the interferon alpha (IFNalpha) pathway...
  36. pmc Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility
    Jian Zhao
    Division of Rheumatology, Department of Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America
    PLoS Genet 7:e1002079. 2011
    ....
  37. pmc Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia
    Rebecca Mar-Heyming
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
    Arterioscler Thromb Vasc Biol 28:1193-9. 2008
    ..We used the fatty acid desaturation index (the plasma ratio of 18:1/18:0) as a marker of SCD1 activity to investigate the relationship of SCD1 to familial combined hyperlipidemia (FCHL)...
  38. pmc Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
    Maricela Alarcon
    UCLA Center for Autism Research and Treatment, Semel Institute of Neuroscience, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
    Am J Hum Genet 82:150-9. 2008
    ..Together, these results provide convergent evidence for involvement of CNTNAP2, a Neurexin family member, in autism, and demonstrate a connection between genetic risk for autism and specific brain structures...
  39. pmc Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families
    Maricela Alarcon
    Center for Neurobehavioral Genetics and Neuropsychiatric Research Institute, and Department of Neurology, UCLA School of Medicine, Los Angeles, CA, USA
    Am J Hum Genet 70:60-71. 2002
    ..The putative autism-susceptibility locus on chromosome 7 may be the result of separate QTLs for the language and repetitive or stereotyped behavior deficits that are associated with the disorder...
  40. pmc Genome scans provide evidence for low-HDL-C loci on chromosomes 8q23, 16q24.1-24.2, and 20q13.11 in Finnish families
    Aino Soro
    Department of Human Genetics, Gonda Neuroscience and Genetics Research Center, University of California, Los Angeles, CA 90095 7088, USA
    Am J Hum Genet 70:1333-40. 2002
    ..11, the latter representing a recently characterized region for type 2 diabetes. Besides these three loci, loci on chromosomes 2p and 3p showed linkage in the families with low HDL-C and a locus on 2ptel in the families with FCHL...
  41. pmc A susceptibility locus for migraine with aura, on chromosome 4q24
    Maija Wessman
    Department of Pathology and Laboratory Medicine, University of California, Los Angeles, Los Angeles 90095 7088, USA
    Am J Hum Genet 70:652-62. 2002
    ..000011). Multipoint parametric (HLOD = 4.45; P=.0000058) and nonparametric (NPL(all) = 3.43; P=.0007) analyses support linkage in this region. Statistically significant linkage was not observed in any other chromosomal region...
  42. pmc A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11
    Matthew N Ogdie
    Department of Human Genetics, University of California, Los Angeles, Los Angeles, CA, USA
    Am J Hum Genet 72:1268-79. 2003
    ..Interestingly, both regions, as well as 5p13, have been highlighted in genomewide scans for autism...
  43. pmc Association of common variants in the Joubert syndrome gene (AHI1) with autism
    Ana I Alvarez Retuerto
    Center for Autism Research and Treatment Semel Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
    Hum Mol Genet 17:3887-96. 2008
    ..These data suggest a role for AHI1 in common disorders affecting human cognition and behavior...
  44. pmc WW-domain-containing oxidoreductase is associated with low plasma HDL-C levels
    Jenny C Lee
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA
    Am J Hum Genet 83:180-92. 2008
    ..In conclusion, analyses of 9,798 subjects show significant association between HDL-C and a WWOX variant with an allele-specific cis-regulatory function...
  45. pmc Identifying heritable brain phenotypes in an extended pedigree of vervet monkeys
    Scott C Fears
    Center for Neurobehavioral Genetics, University of California, Los Angeles, Los Angeles, California 90095, USA
    J Neurosci 29:2867-75. 2009
    ....
  46. pmc The SLC6A14 gene shows evidence of association with obesity
    Elina Suviolahti
    Department of Human Genetics, University of California, Los Angeles, USA
    J Clin Invest 112:1762-72. 2003
    ..003). The SLC6A14 gene is an interesting novel candidate for obesity because it encodes an amino acid transporter, which potentially regulates tryptophan availability for serotonin synthesis and thus possibly affects appetite control...
  47. ncbi request reprint A quantitative trait locus analysis of social responsiveness in multiplex autism families
    Jacqueline A Duvall
    Department of Neurology, University of California, Los Angeles, USA
    Am J Psychiatry 164:656-62. 2007
    ..The authors present the first genome-wide scan for a social endophenotype in autism using the Social Responsiveness Scale, which provides a quantitative measure of autistic-like behavior, primarily focused on social relatedness...
  48. ncbi request reprint Biochemical and genetic association of plasma apolipoprotein A-II levels with familial combined hyperlipidemia
    Hooman Allayee
    Department of Human Genetics, Gonda Genetics Research Center, of California, Los Angeles, Calif 90095, USA
    Circ Res 92:1262-7. 2003
    ..Our results demonstrate that apoA-II is biochemically and genetically associated with FCH and may serve as a useful marker for understanding the mechanism by which FCH develops...
  49. ncbi request reprint Familiality and co-occurrence of clinical features of systemic lupus erythematosus
    Betty P Tsao
    Division of Rheumatology, Department of Medicine, Rehabilitation Center, Room 32 59, University of California Los Angeles School of Medicine, 1000 Veteran Avenue, Los Angeles, CA 90095 1670, USA
    Arthritis Rheum 46:2678-85. 2002
    ..To evaluate familiality of 15 clinical and laboratory features in systemic lupus erythematosus (SLE)-affected sibpairs, and to estimate correlations with the age at SLE diagnosis in affected sibpairs and parent-offspring pairs...
  50. pmc Transcriptomic analysis of autistic brain reveals convergent molecular pathology
    Irina Voineagu
    Program in Neurogenetics and Neurobehavioral Genetics, Department of Neurology and Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, California 90095 1769, USA
    Nature 474:380-4. 2011
    ..Collectively, our results provide strong evidence for convergent molecular abnormalities in ASD, and implicate transcriptional and splicing dysregulation as underlying mechanisms of neuronal dysfunction in this disorder...
  51. pmc Stratification based on language-related endophenotypes in autism: attempt to replicate reported linkage
    Sarah J Spence
    Department of Psychiatry and Biobehavioral Sciences, University of California at Los Angeles, Los Angeles, California 90095, USA
    Am J Med Genet B Neuropsychiatr Genet 141:591-8. 2006
    ..However, the inconsistencies in regions identified across studies highlight the importance of increasing sample sizes to provide adequate power to test replications in independent samples...
  52. ncbi request reprint Interactive effects of cadmium and all-trans-retinoic acid on the induction of forelimb ectrodactyly in C57BL/6 mice
    Grace S Lee
    Molecular Toxicology Interdepartmental Program, University of California, Los Angeles School of Public Health, Los Angeles, California 90095, USA
    Birth Defects Res A Clin Mol Teratol 76:19-28. 2006
    ..In the present study, the interactive effects of coadministration of cadmium and RA on developing limbs were investigated...
  53. pmc Multisystem component phenotypes of bipolar disorder for genetic investigations of extended pedigrees
    Scott C Fears
    Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles
    JAMA Psychiatry 71:375-87. 2014
    ..Together, these phenotypes provide a basis for identifying loci contributing to BP-I risk and for genetic dissection of the disorder. ..
  54. pmc The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data
    Paul M Thompson
    Imaging Genetics Center, Institute for Neuroimaging and Informatics, Keck School of Medicine, University of Southern California, 2001 N Soto Street, Los Angeles, CA, 90033, USA
    Brain Imaging Behav 8:153-82. 2014
    ..We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way. ..
  55. pmc Amerindian-specific regions under positive selection harbour new lipid variants in Latinos
    Arthur Ko
    1 Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California 90095, USA 2 Molecular Biology Institute at UCLA, Los Angeles, California 90095, USA
    Nat Commun 5:3983. 2014
    ..These findings suggest that Amerindian-specific genetic architecture leads to a higher incidence of dyslipidemia and obesity in modern Mexicans. ..
  56. pmc Association of GSK3B with Alzheimer disease and frontotemporal dementia
    Barbara A J Schaffer
    Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, 2506 Gonda, 695 Charles E Young Dr S, Los Angeles, CA 90095 1761, USA
    Arch Neurol 65:1368-74. 2008
    ..As a known tau kinase, GSK3B is a promising candidate gene in the remaining cases of FTD and in AD, for which tau mutations have not been found...
  57. pmc Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism
    Susan L Smalley
    Center for Neurobehavioral Genetics and Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles 90024USA
    Am J Hum Genet 71:959-63. 2002
    ..These findings suggest that variations in a gene on 16p13 may contribute to common deficits found in both ADHD and autism...
  58. doi request reprint Prediction of serotonin transporter promoter polymorphism genotypes from single nucleotide polymorphism arrays using machine learning methods
    Ake Tzu Hui Lu
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 7088, USA
    Psychiatr Genet 22:182-8. 2012
    ..However, large-scale genotyping of the polymorphism has been very difficult. We report the development and validation of a 5-HTTLPR genotype prediction model...
  59. pmc Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12
    Nadia Ehtesham
    Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Cedars Sinai Research Institute, Los Angeles, CA 90048, USA
    Am J Hum Genet 71:947-51. 2002
    ....
  60. pmc Mitochondrial dysfunction, oxidative stress, and apoptosis revealed by proteomic and transcriptomic analyses of the striata in two mouse models of Parkinson's disease
    Mark H Chin
    Department of Molecular and Medical Pharmacology, Human Genetics, Laboratory of Neuroimaging, Department of Neurology, and Surgery, David Geffen School of Medicine at University of California Los Angeles UCLA, Los Angeles, California 90095, USA
    J Proteome Res 7:666-77. 2008
    ..These results constitute one of the largest descriptive data sets integrating protein and transcript changes for these neurotoxin models with many similar end point phenotypes but distinct mechanisms...
  61. doi request reprint Schizophrenia: genome, interrupted
    Rita M Cantor
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA
    Neuron 58:165-7. 2008
    ..A current paper makes a significant advance to schizophrenia genetics by establishing an association with rare copy number variants (CNV), which are over-represented in neurodevelopmental genes...
  62. pmc Familial aggregation of hyperemesis gravidarum
    Yafeng Zhang
    Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, CA 90095, USA
    Am J Obstet Gynecol 204:230.e1-7. 2011
    ..This study was undertaken to determine whether there is familial aggregation of hyperemesis gravidarum (HG), making it a disease amenable to genetic study...
  63. pmc A quantitative trait locus for variation in dopamine metabolism mapped in a primate model using reference sequences from related species
    Nelson B Freimer
    Center for Neurobehavioral Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Proc Natl Acad Sci U S A 104:15811-6. 2007
    ....
  64. ncbi request reprint Palmar hyperhidrosis: evidence of genetic transmission
    Kyung M Ro
    University of California at Davis School of Medicine, Los Angeles, USA
    J Vasc Surg 35:382-6. 2002
    ..Over the past several years, several investigators have reported a positive family history in their patients treated for hyperhidrosis. To date, the cause is unknown; furthermore, epidemiologic data are scarce and inadequate...
  65. pmc Ulcerative dermatitis in C57BL/6 mice exhibits an oxidative stress response consistent with normal wound healing
    Lisa K Williams
    Division of Laboratory Animal Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA
    Comp Med 62:166-71. 2012
    ..No evidence indicated that UD wounds have a defect in the oxidative stress response. Our findings are consistent with an understanding of C57BL/6 UD lesions as typical rather than atypical wounds...
  66. pmc Identification of common variants associated with human hippocampal and intracranial volumes
    Jason L Stein
    Laboratory of Neuro Imaging, David Geffen School of Medicine, University of California, Los Angeles, California, USA
    Nat Genet 44:552-61. 2012
    ..3; N = 15,782; P = 1.12 × 10(-12)). We also identified a suggestive association with total brain volume at rs10494373 within DDR2 (1q23.3; N = 6,500; P = 5.81 × 10(-7))...
  67. pmc Co-regulation and multilocus determinants of gene expression in humans
    Berit Kerner
    Center for Neurobehavioral Genetics, Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, 695 Charles E, Young Drive South, Los Angeles, California 90095 1761, USA
    BMC Proc 1:S88. 2007
    ..CONCLUSION : The complex nature of gene regulation can be explored by linkage analysis with single-nucleotide polymorphisms followed by multivariate methods to explore co-regulation...
  68. ncbi request reprint Effect of arsenite, maternal age, and embryonic sex on spina bifida, exencephaly, and resorption rates in the splotch mouse
    Lisa J Martin
    Department of Environmental Health Sciences, Interdepartmental Program in Molecular Toxicology, UCLA School of Public Health, Los Angeles, California 90095 1772, USA
    Birth Defects Res A Clin Mol Teratol 67:231-9. 2003
    ....
  69. ncbi request reprint Familial combined hyperlipidemia in Mexicans: association with upstream transcription factor 1 and linkage on chromosome 16q24.1
    Adriana Huertas-Vazquez
    Molecular y Medicina Genómica del Instituto de Investigaciones Biomédicas, UNAM, Instituto Nacional de Ciencias Medicas y Nutricion, Salvador Zubiran, Mexico City, Mexico
    Arterioscler Thromb Vasc Biol 25:1985-91. 2005
    ..We also analyzed the Mexican FCHL families for 26 microsatellite markers residing in the seven chromosomal regions on 2p25.1, 9p23, 10q11.23, 11q13, 16q24.1, 19q13, and 21q21, previously linked to FCHL in whites...
  70. ncbi request reprint Cross-species analyses implicate Lipin 1 involvement in human glucose metabolism
    Elina Suviolahti
    Department of Molecular Medicine, National Public Health Institute
    Hum Mol Genet 15:377-86. 2006
    ....
  71. ncbi request reprint Tumor necrosis factor gene polymorphisms and the variable presentation and outcome of community-acquired pneumonia
    Richard G Wunderink
    Methodist Le Bonheur Healthcare Foundation, University of Tennessee, Memphis, TN, USA
    Chest 121:87S. 2002
  72. ncbi request reprint Exfoliation syndrome: prevalence and inheritance in a subisolate of the Finnish population
    Eva Forsman
    Population Genetics Unit, Folkhalsan Institute of Genetics, Helsinki, Finland
    Acta Ophthalmol Scand 85:500-7. 2007
    ....
  73. ncbi request reprint Genetic influences contributing to LDL particle size in familial combined hyperlipidaemia
    Juha Vakkilainen
    Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland
    Eur J Hum Genet 10:547-52. 2002
    ..Our results suggest a polygenic background for LDL size with a recessive major gene that may contribute to large LDL peak particle size in women. Serum TG and HDL-C concentrations predict the majority of variations in LDL particle size...
  74. pmc The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Americans
    Luciana Ribeiro
    Department of Psychiatry and Behavioral Sciences, Center on Pharmacogenomics, University of Miami Miller School of Medicine, Miami, Florida 33136 1013, USA
    Neuroreport 18:1291-3. 2007
    ..7 95% CI 1.17-2.47). Our findings support the association of BDNF single nucleotide polymorphism rs6265 and depression, suggesting that this polymorphism may increase susceptibility to major depression in Mexican-Americans...
  75. pmc A genomewide screen of 345 families for autism-susceptibility loci
    Amanda L Yonan
    Department of Genetics and Development and Columbia Genome Center, Columbia University, New York, NY 10032, USA
    Am J Hum Genet 73:886-97. 2003
    ....
  76. ncbi request reprint Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    Peter Szatmari
    Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada
    Nat Genet 39:319-28. 2007
    ..Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs...
  77. ncbi request reprint Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome
    Carolyn Schanen
    Nemours Biomedical Research, Alfred I duPont Hospital for Children, Room H3B 337, PO Box 269, Wilmington, DE 19899, USA
    Am J Med Genet A 126:129-40. 2004
    ..These results emphasize the limitations of such analyses in larger mutation groups, either by type or position...
  78. ncbi request reprint Heritability and genetic loci of fatty liver in familial combined hyperlipidemia
    Martijn C G J Brouwers
    Department of Medicine and Cardiovascular Research Institute Maastricht, Academic Hospital Maastricht, Maastricht, The Netherlands
    J Lipid Res 47:2799-807. 2006
    ..This study shows that fatty liver is a heritable aspect of FCHL. Replication of particularly the 7p region is awaited...
  79. ncbi request reprint Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families
    Tero Ylisaukko-Oja
    Department of Molecular Medicine, National Public Health Institute, University of Helsinki, 00251 Helsinki, Finland
    Ann Neurol 59:145-55. 2006
    ..The objective of this study was to search for potential susceptibility loci for autism, which are supported by two independent samples...
  80. pmc Offering to share: how to put heads together in autism neuroimaging
    Matthew K Belmonte
    Department of Human Development, Cornell University, Martha Van Rensselaer Hall, Ithaca, NY 14853 4401, USA
    J Autism Dev Disord 38:2-13. 2008
    ..A theme in these requirements is the need to preserve creative approaches and risk-taking within individual laboratories at the same time as common standards are provided for these laboratories to build on...
  81. ncbi request reprint Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan
    Yi Wen Lin
    Graduate Institute of Life Sciences, National Defense Medical Center, Taipei, Taiwan
    Hum Mutat 28:486-94. 2007
    ....
  82. pmc Phosphodiesterase genes are associated with susceptibility to major depression and antidepressant treatment response
    Ma Li Wong
    Center on Pharmacogenomics, Department of Psychiatry and Behavioral Sciences, Miller School of Medicine, University of Miami, Miami, FL 33136, USA
    Proc Natl Acad Sci U S A 103:15124-9. 2006
    ..This study identifies a potential CNS role for the PDE11 family. The hypothesis that drugs affecting PDE function, particularly cGMP-related PDEs, represent a treatment strategy for major depression should therefore be tested...
  83. ncbi request reprint Intracellular adhesion molecule Gly241Arg polymorphism has no impact on ARDS or septic shock in community-acquired pneumonia
    Michael W Quasney
    Department of Pediatrics, Crippled Children s Foundation Research Center, University of Tennessee, Memphis, 38103, USA
    Chest 121:85S-86S. 2002
  84. ncbi request reprint Longitudinal differences in familial combined hyperlipidemia quantitative trait loci
    Martijn C G J Brouwers
    Arterioscler Thromb Vasc Biol 26:e118-9. 2006