Search Results - "Freimer, N."

A phenome-wide examination of neural and cognitive function by Poldrack, R.A., Congdon, E., Triplett, W., Gorgolewski, K.J., Karlsgodt, K.H., Mumford, J.A., Sabb, F.W., Freimer, N.B., London, E.D., Cannon, T.D., Bilder, R.M.

“…This data descriptor outlines a shared neuroimaging dataset from the UCLA Consortium for Neuropsychiatric Phenomics, which focused on understanding the…”
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Phenomics: the systematic study of phenotypes on a genome-wide scale by Bilder, R.M, Sabb, F.W, Cannon, T.D, London, E.D, Jentsch, J.D, Parker, D. Stott, Poldrack, R.A, Evans, C, Freimer, N.B

“…Abstract Phenomics is an emerging transdiscipline dedicated to the systematic study of phenotypes on a genome-wide scale. New methods for high-throughput…”
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Obesity and obesogenic growth are both highly heritable and modified by diet in a nonhuman primate model, the African green monkey (Chlorocebus aethiops sabaeus) by Schmitt, C A, Service, S K, Jasinska, A J, Dyer, T D, Jorgensen, M J, Cantor, R M, Weinstock, G M, Blangero, J, Kaplan, J R, Freimer, N B

“…Objective: In humans, the ontogeny of obesity throughout the life course and the genetics underlying it has been historically difficult to study. We compared,…”
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Mutational Processes of Simple-Sequence Repeat Loci in Human Populations by DI RIENZO, A, PETERSON, A. C, GARZA, J. C, VALDES, A. M, SLATKIN, M, FREIMER, N. B

“…Mutational processes of simple sequence repeats (SSRs) in complex genomes are poorly understood. We examined these processes by introducing a two-phase…”
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A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis by Tanner, M. Stuart, Sokal, Etienne, Strautnieks, Sandra S, Dahan, Karine, Pawlowska, Joanna, Dahl, Niklas, Freimer, Nelson B, Gardiner, R. Mark, Childs, Sarah, Kagalwalla, Amir F, Knisely, Alexander S, Thompson, Richard J, Ling, Victor, Németh, Antal, Baker, Alastair, Arnell, Henrik, Kocoshis, Samuel A, Mieli-Vergani, Giorgina, Bull, Laura N

“…The progressive familial intrahepatic cholestases (PFIC) are a group of inherited disorders with severe cholestatic liver disease from early infancy. A…”
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Self injurious behaviour in Tourette syndrome: correlates with impulsivity and impulse control by Mathews, C A, Waller, J, Glidden, D, Lowe, T L, Herrera, L D, Budman, C L, Erenberg, G, Naarden, A, Bruun, R D, Freimer, N B, Reus, V I

“…Background: Self injurious behaviour (SIB), the deliberate, repetitive infliction of self harm, is present in a wide variety of neuropsychiatric disorders,…”
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Allele Frequencies at Microsatellite Loci: The Stepwise Mutation Model Revisited by Valdes, A. M, Slatkin, M, Freimer, N. B

“…We summarize available data on the frequencies of alleles at microsatellite loci in human populations and compare observed distributions of allele frequencies…”
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Familial Aggregation of Absolute Pitch by Baharloo, Siamak, Service, Susan K., Risch, Neil, Gitschier, Jane, Freimer, Nelson B.

“…Absolute pitch (AP) is a behavioral trait that is defined as the ability to identify the pitch of tones in the absence of a reference pitch. AP is an ideal…”
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Challenges in phenotype definition in the whole-genome era: multivariate models of memory and intelligence by Sabb, F.W, Burggren, A.C, Higier, R.G, Fox, J, He, J, Parker, D.S, Poldrack, R.A, Chu, W, Cannon, T.D, Freimer, N.B, Bilder, R.M

“…Abstract Refining phenotypes for the study of neuropsychiatric disorders is of paramount importance in neuroscience. Poor phenotype definition provides the…”
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A collaborative knowledge base for cognitive phenomics by Sabb, F W, Bearden, C E, Glahn, D C, Parker, D S, Freimer, N, Bilder, R M

“…The human genome project has stimulated development of impressive repositories of biological knowledge at the genomic level and new knowledge bases are rapidly…”
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A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales by Service, S K, Verweij, K J H, Lahti, J, Congdon, E, Ekelund, J, Hintsanen, M, Räikkönen, K, Lehtimäki, T, Kähönen, M, Widen, E, Taanila, A, Veijola, J, Heath, A C, Madden, P A F, Montgomery, G W, Sabatti, C, Järvelin, M-R, Palotie, A, Raitakari, O, Viikari, J, Martin, N G, Eriksson, J G, Keltikangas-Järvinen, L, Wray, N R, Freimer, N B

“…Temperament has a strongly heritable component, yet multiple independent genome-wide studies have failed to identify significant genetic associations. We have…”
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The Newfoundland population: a unique resource for genetic investigation of complex diseases by Rahman, Proton, Jones, Albert, Curtis, Joseph, Bartlett, Sylvia, Peddle, Lynette, Fernandez, Bridget A., Freimer, Nelson B.

“…The population of the province of Newfoundland and Labrador is genetically isolated. This isolation is evidenced by an overabundance of several monogenic…”
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Absolute Pitch: An Approach for Identification of Genetic and Nongenetic Components by Baharloo, Siamak, Johnston, Paul A., Service, Susan K., Gitschier, Jane, Freimer, Nelson B.

“…Absolute pitch (AP) is the ability to recognize a pitch, without an external reference. By surveying more than 600 musicians in music conservatories, training…”
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A large population cohort provides normative data for investigation of temperament by Miettunen, J., Kantojärvi, L., Ekelund, J., Veijola, J., Karvonen, J. T., Peltonen, L., Järvelin, M. R., Freimer, N., Lichtermann, D., Joukamaa, M.

“…Objective:  We evaluated the psychometric properties of widely used scales for assessing temperament in a large birth cohort. We simultaneously compared the…”
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Adult age confounds estimates of static allometric slopes in a vertebrate by Rodríguez, R.L., Cramer, J.D., Schmitt, C.A., Gaetano, T.J., Grobler, J.P., Freimer, N.B., Turner, T.R.

“…In many animal groups, the size of male genitalia scales shallowly with individual body size. This widespread pattern appears to admit some exceptions. For…”
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Linkage-Disequilibrium Mapping of Disease Genes by Reconstruction of Ancestral Haplotypes in Founder Populations by Service, S.K., Lang, D.W. Temple, Freimer, N.B., Sandkuijl, L.A.

“…Linkage disequilibrium (LD) mapping may be a powerful means for genome screening to identify susceptibility loci for common diseases. A new statistical…”
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The genome-wide distribution of background linkage disequilibrium in a population isolate by SERVICE, Susan K, OPHOFF, Roel A, FREIMER, Nelson B

“…Recent interest in using association studies to investigate complex traits has focused attention on understanding linkage disequilibrium (LD) in the human…”
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Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC‐1] and Byler syndrome): Evidence for heterogeneity by Bull, L N, Carlton, V E, Stricker, N L, Baharloo, S, DeYoung, J A, Freimer, N B, Magid, M S, Kahn, E, Markowitz, J, DiCarlo, F J, McLoughlin, L, Boyle, J T, Dahms, B B, Faught, P R, Fitzgerald, J F, Piccoli, D A, Witzleben, C L, O'Connell, N C, Setchell, K D, Agostini, R M, Kocoshis, S A, Reyes, J, Knisely, A S

“…Byler disease (ByD) is an autosomal recessive disorder in which cholestasis of onset in infancy leads to hepatic fibrosis and death. Children who have a…”
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Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis by Baharloo, Siamak, Blankenship, Kathleen, Juyn, Jenneke, Raeymaekers, Peter, Houwen, Roderick H. J, Freimer, Nelson B, Sandkuijl, Lodewijk A

“…It is now feasible to map disease genes by screening the genome for linkage disequilibrium between the disease and marker alleles. This report presents the…”
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A narrow and highly significant linkage signal for severe bipolar disorder in the chromosome 5q33 region in Latin American pedigrees by Jasinska, A.J., Service, S., Jawaheer, D., DeYoung, J., Levinson, M., Zhang, Z., Kremeyer, B., Muller, H., Aldana, I., Garcia, J., Restrepo, G., Lopez, C., Palacio, C., Duque, C., Parra, M., Vega, J., Ortiz, D., Bedoya, G., Mathews, C., Davanzo, P., Fournier, E., Bejarano, J., Ramirez, M., Araya Ortiz, C., Araya, X., Molina, J., Sabatti, C., Reus, V., Ospina, J., Macaya, G., Ruiz-Linares, A., Freimer, N.B.

“…We previously reported linkage of bipolar disorder to 5q33‐q34 in families from two closely related population isolates, the Central Valley of Costa Rica…”
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