Research Topics
Species | Nelson FreimerSummaryAffiliation: University of California Country: USA Publications
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Detail Information
Publications
Association analysis of candidate genes for neuropsychiatric disease: the perpetual campaignCharles E Glatt
Center for Neurobehavioral Genetics, UCLA, Rm 3506 Gonda Center, 695 Charles Young Drive South, Los Angeles, CA 90095, USA
Trends Genet 18:307-12. 2002..As genomic technologies advance, massive genotyping of large samples should allow identification of alleles that contribute to psychopathology...
The complex genetic basis of simple behaviorAnna J Jasinska
Center for Neurobehavioral Genetics, University of California, Los Angeles, CA 90095, USA
J Biol 8:71. 2009..A recent study in BMC Biology using these approaches shows the complexity of the genetic contribution to aggressive behavior in Drosophila...
The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiologyNelson Freimer
Center for Neurobehavioral Genetics, Neuropsychiatric Institute, Los Angeles, CA 90095, USA
Nat Genet 36:1045-51. 2004..Recent studies suggest that the technology and statistical methodology will soon be available to make well-powered studies feasible using any of these approaches...
A quantitative trait locus for variation in dopamine metabolism mapped in a primate model using reference sequences from related speciesNelson 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....
Guidelines for association studies in Human Molecular GeneticsNelson B Freimer
Department of Psychiatry, UCLA Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, Los Angeles, CA 90095-1761, USA
Hum Mol Genet 14:2481-3. 2005
The human phenome projectNelson Freimer
Center for Neurobehavioral Genetics, Neuropsychiatric Institute, Gonda Building Room 3506, 695 Charles E. Young Drive South, Los Angeles, California 90095, USA
Nat Genet 34:15-21. 2003
Tag SNPs chosen from HapMap perform well in several population isolatesSusan Service
Center for Neurobehavioral Genetics, University of California, Los Angeles, California 90095 1761, USA
Genet Epidemiol 31:189-94. 2007....
Results of a SNP genome screen in a large Costa Rican pedigree segregating for severe bipolar disorderSusan Service
Center for Neurobehavioral Genetics, University of California, Los Angeles, 90095-1761, USA
Am J Med Genet B Neuropsychiatr Genet 141:367-73. 2006..The difficulties of analyzing genome wide SNP data for complex disorders in large, potentially informative, kindreds are discussed...
Linkage disequilibrium and haplotype homozygosity in population samples genotyped at a high marker densityHui Wang
Department of Statistics, UCLA, Los Angeles, CA 90095, USA
Hum Hered 62:175-89. 2006..CONCLUSIONS: It is crucial to take into account LD patterns when interpreting long stretches of homozygous markers...
Genome-wide association study of neurocognitive impairment and dementia in HIV-infected adultsAndrew J Levine
National Neurological AIDS Bank, Department of Neurology, David Geffen School of Medicine at the University of California, Los Angeles, CA, USA
Am J Med Genet B Neuropsychiatr Genet 159:669-83. 2012..Due to the relatively small sample size, future collaborative efforts that incorporate this dataset may still yield important findings...
Genomewide linkage disequilibrium mapping of severe bipolar disorder in a population isolateRoel A Ophoff
Neurogenetics Laboratory, University of California, San Francisco, CA, USA
Am J Hum Genet 71:565-74. 2002..This region could be important for severe psychiatric disorders, rather than for a specific phenotype...
Cost-effective designs for linkage disequilibrium mapping of complex traitsSusan K Service
Center for Neurobehavioral Genetics, University of California at Los Angeles, Los Angeles, CA 90095, USA
Am J Hum Genet 72:1213-20. 2003..This framework for determining a cost-effective study will aid in the planning of studies, especially if there are choices to be made with respect to phenotyping methods or study populations...
Normal variants of Microcephalin and ASPM do not account for brain size variabilityRoger P Woods
Ahmanson Lovelace Brain Mapping Center, David Geffen School of Medicine, University of California, CA 90095, USA
Hum Mol Genet 15:2025-9. 2006..This result suggests that the selective pressure on these genes may be related to subtle neurobiological effects or to their expression outside the brain...
Endophenotypes for psychiatric disorders: ready for primetime?Carrie E Bearden
Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA 90095, USA
Trends Genet 22:306-13. 2006..Gene expression studies and non-human primate models are recent developments in which an endophenotype approach might prove particularly valuable...
Evidence of linkage to psychosis on chromosome 5q33-34 in pedigrees ascertained for bipolar disorderBerit Kerner
Department of Psychiatry and Biobehavioral Sciences, Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles, CA 90095 1761, USA
Am J Med Genet B Neuropsychiatr Genet 144:74-8. 2007..This finding is consistent with the hypothesis that susceptibility to psychosis may characterize at least a subtype of bipolar disorder...
Polymorphisms in the GRIA1 gene region in psychotic bipolar disorderBerit Kerner
Center for Neurobehavioral Genetics, Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles, 90095 1761, USA
Am J Med Genet B Neuropsychiatr Genet 150:24-32. 2009..Our findings suggest that variations in this receptor may contribute to the pathophysiology of BP with psychotic features in some families...
Cognitive ontologies for neuropsychiatric phenomics researchRobert M Bilder
Jane and Terry Semel Institute for Neuroscience and Human Behavior at UCLA, Los Angeles, CA 90095, USA
Cogn Neuropsychiatry 14:419-50. 2009..It is hoped that these tools will help formalise inference about cognitive concepts in behavioural and neuroimaging studies, and facilitate discovery of the genetic bases of both healthy cognition and cognitive disorders...
Methodological issues in molecular genetic studies of mental disordersCarrie E Bearden
Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, CA 90095, USA
Annu Rev Clin Psychol 5:49-69. 2009..Here we discuss the methodologies employed for genetic investigation of mental disorders, including phenotyping strategies, approaches to genetic mapping, and use of animal models of psychopathology...
Why genetic investigation of psychiatric disorders is so difficultCarrie E Bearden
Departments of Psychology, University of California, Los Angeles, 300 Medical Plaza, Room 2265, Los Angeles, California 90095, USA
Curr Opin Genet Dev 14:280-6. 2004..At the same time, movement toward large-scale, collaborative efforts is increasing the effectiveness of traditional genetic mapping approaches...
Re-screening serotonin receptors for genetic variants identifies population and molecular genetic complexityCharles E Glatt
UCLA Center for Neurobehavioral Genetics, Gonda Center, Los Angeles, California, USA
Am J Med Genet B Neuropsychiatr Genet 124:92-100. 2004..We discuss the implications of these findings and propose methods to address complexity in genetic association studies...
Genetic mapping using haplotype and model-free linkage analysis supports previous evidence for a locus predisposing to severe bipolar disorder at 5q31-33Kyung Sue Hong
Center for Neurobehavioral Genetics, University of California Los Angeles, Los Angeles, California 90095-1761, USA
Am J Med Genet B Neuropsychiatr Genet 125:83-6. 2004..These results support the suggestion that a locus at 5q31-33, together with a previously reported locus at 18q22-23, may provide the major genetic risk for BP-I in this family...
A web-based brain atlas of the vervet monkey, Chlorocebus aethiopsRoger P Woods
Ahmanson Lovelace Brain Mapping Center, University of California, Los Angeles UCLA, Los Angeles, CA 90095 7085, USA
Neuroimage 54:1872-80. 2011..Despite the extended time period since their divergence, the major sulcal and subcortical landmarks in vervets are highly conserved relative to those described in macaques...
Genome-wide association analysis of metabolic traits in a birth cohort from a founder populationChiara Sabatti
Department of Human Genetics and Los Angeles, Los Angeles, California 90095, USA
Nat Genet 41:35-46. 2009..The association observed between low-density lipoprotein and an infrequent variant in AR suggests the potential of such a cohort for identifying associations with both common, low-impact and rarer, high-impact quantitative trait loci...
Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studiesSusan Service
Center for Neurobehavioral Genetics, University of California, Los Angeles, California 90095, USA
Nat Genet 38:556-60. 2006..Young isolates known to have had relatively few founders show particularly extensive LD with very few holes; these populations offer substantial advantages for genome-wide association mapping...
False discovery rate in linkage and association genome screens for complex disordersChiara Sabatti
Department of Human Genetics and Statistics, University of California, Los Angeles 90095 7088, USA
Genetics 164:829-33. 2003..This adaptive multiple comparison procedure may offer an important tool for mapping susceptibility genes for complex diseases...
Children of persons with Alzheimer disease: what does the future hold?Lissy Jarvik
Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, CA 90095, USA
Alzheimer Dis Assoc Disord 22:6-20. 2008..We examine the state of knowledge with respect to risk and protective factors for AD and recommend a research agenda with special emphasis on AD offspring...
Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analysesDianne Keen-Kim
Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA
Hum Mol Genet 15:3324-8. 2006....
Neurocognitive phenotypes and genetic dissection of disorders of brain and behaviorEliza Congdon
Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA 90095, USA
Neuron 68:218-30. 2010....
Middle-aged children of Alzheimer parents, a pilot study: stable neurocognitive performance at 20-year follow-upLissy F Jarvik
University of California, Los Angeles UCLA, Department of Psychiatry and Biobehavioral Sciences and Neuropsychiatric Institute and Hospital, Los Angeles, California 90095 1759, USA
J Geriatr Psychiatry Neurol 18:187-91. 2005....
Identifying heritable brain phenotypes in an extended pedigree of vervet monkeysScott C Fears
Center for Neurobehavioral Genetics, University of California, Los Angeles, Los Angeles, California 90095, USA
J Neurosci 29:2867-75. 2009....
Identification of brain transcriptional variation reproduced in peripheral blood: an approach for mapping brain expression traitsAnna J Jasinska
Center for Neurobehavioral Genetics, University of California, Los Angeles, CA 90095, USA
Hum Mol Genet 18:4415-27. 2009....
A genetic linkage map of the vervet monkey (Chlorocebus aethiops sabaeus)Anna J Jasinska
Center for Neurobehavioral Genetics, The Jane and Terry Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California 90095, USA
Mamm Genome 18:347-60. 2007..Our results support the notion that large inversions played a less prominent role in the evolution within the group of the Old World monkeys compared to the human and chimpanzee lineages...
Genetics and epidemiology of Tourette syndromeDianne Keen-Kim
Center for Neurobehavioral Genetics, Semel Institute, University of California, Los Angeles, CA 90095, USA
J Child Neurol 21:665-71. 2006..In this review, we describe the key epidemiologic, linkage, and association studies in Tourette syndrome and illustrate the strategies currently being used to identify Tourette syndrome genes...
Comorbidity of bipolar disorder and substance abuse in Costa Rica: pedigree- and population-based studiesMichael A Escamilla
Department of Psychiatry, 7792, University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Drive, San Antonio, TX 78229-3900, USA
J Affect Disord 71:71-83. 2002..Although SA/SD may be a risk factor for precipitating BPI in those at risk, in this population comorbid BPI subjects do not have a different onset or course of BPI in comparison to BPI patients without comorbidity...
Genetic studies of neuropsychiatric disorders in Costa Rica: a model for the use of isolated populationsCarol A Mathews
Department of Psychiatry, University of California, San Diego, La Jolla, CA 92093 0810, USA
Psychiatr Genet 14:13-23. 2004..In this paper we highlight the studies currently being conducted by our groups in the Central Valley of Costa Rica to illustrate the potential advantages of this population for genetic studies...
Analysis of segmental duplications reveals a distinct pattern of continuation-of-synteny between human and mouse genomesMichael R Mehan
Center for Neurobehavioral Genetics, Neuropsychiatric Institute, University of California Los Angeles, Los Angeles, CA 90095, USA
Hum Genet 121:93-100. 2007..Our analysis supports a non-random breakage model of genomic evolution with an active involvement of segmental duplications for specific regions of the human genome...
Differences in presentation and progression between severe FIC1 and BSEP deficienciesLudmila Pawlikowska
Department of Anesthesia and Perioperative Care, University of California, San Francisco, San Francisco, CA, USA
J Hepatol 53:170-8. 2010..Our goal was to identify features that distinguish presentation and course of these two disorders, thus facilitating diagnosis and elucidating the differing consequences of ATP8B1 and ABCB11 mutations...
Tic symptom profiles in subjects with Tourette Syndrome from two genetically isolated populationsCarol A Mathews
Department of Psychiatry, University of California, San Diego, La Jolla, California 92093 0810, USA
Biol Psychiatry 61:292-300. 2007..Tourette Syndrome (TS) has a complex etiology and wide variability in phenotypic expression. Identifying underlying symptom patterns may be useful for etiological and outcome studies of TS...
Characterization of mutations in ATP8B1 associated with hereditary cholestasisLeo W J Klomp
Department of Metabolic and Endocrine Diseases, University Medical Center, Utrecht, The Netherlands
Hepatology 40:27-38. 2004..16% in BRIC). Some mutations, however, lead to a wide range of phenotypes, from PFIC to BRIC or even no clinical disease. ATP8B1 mutations were detected in 30% and 41%, respectively, of the PFIC and BRIC patients screened...
Large recurrent microdeletions associated with schizophreniaHreinn Stefansson
CNS Division, deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
Nature 455:232-6. 2008..CNV analysis may also point the way to the identification of additional and more prevalent risk variants in genes and pathways involved in schizophrenia...
Sex-stratified linkage analysis identifies a female-specific locus for IgE to cockroach in Costa RicansGary M Hunninghake
Channing Laboratory, 181 Longwood Avenue, Boston, MA 02115, USA
Am J Respir Crit Care Med 177:830-6. 2008....
Replicating genotype-phenotype associationsStephen J Chanock
Division of Cancer Epidemiology and Genetics, Bethesda, Maryland 20892-4605, USA
Nature 447:655-60. 2007
Future of genetics of mood disorders researchKathleen R Merikangas
National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA
Biol Psychiatry 52:457-77. 2002..To prepare for shifts to more complex genetic models, the committee recommended that the NIMH develop new interdisciplinary training strategies to prepare for the next generation of genetics research...
The Newfoundland population: a unique resource for genetic investigation of complex diseasesProton Rahman
Department of Medicine, Memorial University of Newfoundland, St Johns, Newfoundland, Canada
Hum Mol Genet 12:R167-72. 2003..Based on these factors, we propose that the population of Newfoundland offers many advantages for genetic mapping of common diseases, compared with admixed populations, and even compared with other isolates...
Significant linkage to airway responsiveness on chromosome 12q24 in families of children with asthma in Costa RicaJuan C Celedon
Channing Laboratory, Department of Medicine and Respiratory Disorders Program, Brigham and Women s Hospital, 181 Longwood Avenue, Boston, MA 02115, USA
Hum Genet 120:691-9. 2007..Our results suggest that chromosome 12q24.31 contains a locus (or loci) that influence a critical intermediate phenotype of asthma (airway responsiveness) in Costa Ricans...
A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretionLudmila Pawlikowska
UCSF Liver Center Laboratory and Department of Medicine, San Francisco General Hospital, San Francisco, California, USA
Hum Mol Genet 13:881-92. 2004..The mouse phenotype reveals that loss of Atp8b1 disrupts bile salt homeostasis without impairment of canalicular bile secretion; in humans this process is likely to be obscured by early onset of severe liver disease...
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorderRicardo Segurado
Neuropsychiatric Genetics Unit, Department of Genetics, Trinity College, Dublin 2, Ireland
Am J Hum Genet 73:49-62. 2003..We note that meta-analysis can sometimes provide support for linkage but cannot disprove linkage in any candidate region...
Sex-specific linkage to total serum immunoglobulin E in families of children with asthma in Costa RicaBenjamin A Raby
Channing Laboratory and Respiratory Disorders Program, Department of Medicine, Brigham and Women s Hospital, 181 Longwood Avenue, Boston, MA 02115, USA
Hum Mol Genet 16:243-53. 2007..JAG1 is a hematopoetic cell growth factor that may regulate normal B-cell development. This is the first demonstration of a possible genetic basis for differences in total IgE between sexes...
The effect of rare human sequence variants on the function of vesicular monoamine transporter 2Jonathon Burman
Department of Neurology, UCSF School of Medicine, San Francisco, CA 94143 2140, USA
Pharmacogenetics 14:587-94. 2004..The results illustrate the relationship between conservation of the affected residue, the nature of the substitution and effects on substrate versus inhibitor interaction...
Genome-wide linkage analysis of pulmonary function in families of children with asthma in Costa RicaCraig P Hersh
Channing Laboratory, Department of Medicine, Brigham and Women s Hospital, 181 Longwood Avenue, Boston, MA 02115, USA
Thorax 62:224-30. 2007..A study was undertaken to identify genomic regions containing susceptibility loci for pulmonary function and bronchodilator responsiveness (BDR) in Costa Ricans...
Human genetics: variants in common diseasesNelson B Freimer
Nature 445:828-30. 2007
Geographic patterns of genome admixture in Latin American MestizosSijia Wang
The Galton Laboratory, Department of Biology, University College London, London, United Kingdom
PLoS Genet 4:e1000037. 2008..Our findings agree with available information on the demographic history of Latin America and have a number of implications for the design of association studies in population from the region...
Research Grants
- A Vervet Monkey(Cercopithecus Aethiops) Genetic MapNelson Freimer; Fiscal Year: 2007..Vervets share many biological and behavioral similarities with macaques and are readily available to researchers. This project will further enhance the value of the vervet for biomedical research. ..
- Training Grant in Neurobehavioral GeneticsNelson Freimer; Fiscal Year: 2007..abstract_text> ..
- Bipolar Endophenotypes in Population IsolatesNelson B Freimer; Fiscal Year: 2010..Future studies will use the QTL to identify sequence variants that may shed light on the pathophysiology of BP. ..
- Integrated Genetic and Genomic Resources for a Model SystemNelson Freimer; Fiscal Year: 2009..These tools will allow researchers to uncover specific alterations in the genome - the sum of genetic material - that predispose towards or protect against such diseases. ..
- Integrated Genetic and Genomic Resources for a Model SystemNelson B Freimer; Fiscal Year: 2010..These tools will allow researchers to uncover specific alterations in the genome - the sum of genetic material - that predispose towards or protect against such diseases. ..
- POPULATION GENETIC MAPPING OF TOURETTE SYNDROMENelson Freimer; Fiscal Year: 2009..By the completion of the award, we aim to identify one or more sequence variants associated with TS susceptibility. ..
- Genetic and Epidemiology Studies of Bipolar DisorderNelson Freimer; Fiscal Year: 2006..abstract_text> ..
- GENETIC AND EPIDEMIOLOGIC STUDIES OF BIPOLAR DISORDERNelson Freimer; Fiscal Year: 2001..Analysis of these data will be used to obtain more complete characterization of BP phenotypes and to evaluate factors that conceivably interact with genes to determine the severity and course of BP, such as drug and alcohol use. ..
- POPULATION GENETIC MAPPING OF TOURETTE SYNDROMENelson Freimer; Fiscal Year: 2002..The sampling will be facilitated by ongoing collaborations in CR and new collaborations with several TS centers in the U.S. ..
- A Vervet Monkey (Cercopithecus Aethiops) Genetic MapNelson Freimer; Fiscal Year: 2003..This library will also be useful for investigators who wish to study use of a vervet model to study particular candidate genes identified from investigations of humans. ..
- The Southern California Genotyping ConsortiumNelson Freimer; Fiscal Year: 2004..We also envision that the proposed consortium will foster new collaborations within and between the constituent institutions. ..
- MOLECULAR AND POPULATION GENETICS OF BIPOLAR DISORDERNelson Freimer; Fiscal Year: 2005....
- Bipolar Endophenotypes in Population IsolatesNelson Freimer; Fiscal Year: 2009..Future studies will use the QTL to identify sequence variants that may shed light on the pathophysiology of BP. ..
