Research in the Weiss Laboratory, Dept. of Human Genetics

 

List the link to the Utah Program for Inherited Neuromuscular Disorders (UPIN) at the Eccles Institute of Human Genetics

 

 

Publications from the Weiss Laboratory, Dept. of Human Genetics

 

132 entries « 1 of 3 »

2019

Lee, Angela J; Jones, Karra A; Butterfield, Russell J; Cox, Mary O; Konersman, Chamindra G; Grosmann, Carla; Abdenur, Jose E; Boyer, Monica; Beson, Brent; Wang, Ching; Dowling, James J; Gibbons, Melissa A; Ballard, Alison; Janas, Joanne S; Leshner, Robert T; Donkervoort, Sandra; Bonnemann, Carsten G; Malicki, Denise M; Weiss, Robert B; Moore, Steven A; Mathews, Katherine D

Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G. Journal Article

Neurology. Genetics, 5 (2), pp. e315, 2019, ISSN: 2376-7839 (Print).

Abstract | Links | Tags:

Kurz, Jacqueline P; Yang, Zhou; Weiss, Robert B; Wilson, David J; Rood, Kerry A; Liu, George E; Wang, Zhongde

A genome-wide association study for mastitis resistance in phenotypically well-characterized Holstein dairy cattle using a selective genotyping approach. Journal Article

Immunogenetics, 71 (1), pp. 35–47, 2019, ISSN: 1432-1211 (Electronic).

Abstract | Links | Tags: Animals, Bovine, Cattle, Female, genetics, Genome-Wide Association Study, Genotyping Techniques, Mastitis, Phenotype, Polymorphism, Quantitative Trait Loci, ras-GRF1, Single Nucleotide

2018

Kohl, Kevin D; Oakeson, Kelly F; Orr, Teri J; Miller, Aaron W; Forbey, Jennifer Sorensen; Phillips, Caleb D; Dale, Colin; Weiss, Robert B; Dearing, Denise M

Metagenomic sequencing provides insights into microbial detoxification in the guts of small mammalian herbivores (Neotoma spp.). Journal Article

FEMS microbiology ecology, 94 (12), 2018, ISSN: 1574-6941 (Electronic).

Abstract | Links | Tags:

Gahring, Lorise C; Myers, Elizabeth J; Dunn, Diane M; Weiss, Robert B; Rogers, Scott W

Lung eosinophilia induced by house dust mites or ovalbumin is modulated by nicotinic receptor alpha7 and inhibited by cigarette smoke. Journal Article

American journal of physiology. Lung cellular and molecular physiology, 315 (4), pp. L553–L562, 2018, ISSN: 1522-1504 (Electronic).

Abstract | Links | Tags:

Selya, Arielle S; Cannon, Dale S; Weiss, Robert B; Wakschlag, Lauren S; Rose, Jennifer S; Dierker, Lisa; Hedeker, Donald; Mermelstein, Robin J

The role of nicotinic receptor genes (CHRN) in the pathways of prenatal tobacco exposure on smoking behavior among young adult light smokers. Journal Article

Addictive behaviors, 84 , pp. 231–237, 2018, ISSN: 1873-6327 (Electronic).

Abstract | Links | Tags:

Weiss, Robert B; Vieland, Veronica J; Dunn, Diane M; Kaminoh, Yuuki; Flanigan, Kevin M

Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. Journal Article

Annals of neurology, 84 (2), pp. 234–245, 2018, ISSN: 1531-8249 (Electronic).

Abstract | Links | Tags:

Waldrop, Megan A; Gumienny, Felecia; Boue, Daniel; de Los Reyes, Emily ; Shell, Richard; Weiss, Robert B; Flanigan, Kevin M

Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype. Journal Article

American journal of medical genetics. Part A, 176 (5), pp. 1207–1211, 2018, ISSN: 1552-4833 (Electronic).

Abstract | Links | Tags: Agenesis of Corpus Callosum, Biopsy, Cataract, diagnosis, DNA, Down-Regulation, Exons, Gene Expression, Genetic Association Studies, Genetic Predisposition to Disease, genetics, Heterozygote, Humans, Male, Messenger, metabolism, Muscles, Mutation, pathology, Phenotype, Proteins, RNA, Sequence Analysis, Whole Exome Sequencing

Ramdaney, Aarti; Dunn, Diane M; Weiss, Robert B; Rose, Nancy C

Beware the laboratory report: discrepancy in variant classification on reproductive carrier screening. Journal Article

Genetics in medicine : official journal of the American College of Medical Genetics, 20 (3), pp. 374–375, 2018, ISSN: 1530-0366 (Electronic).

Links | Tags: Adult, diagnosis, Duchenne, Female, Genetic Carrier Screening, Genetic Counseling, Genetic Variation, genetics, Humans, methods, Muscular Dystrophy, Prenatal Diagnosis, standards

Bigham, Abigail W; Magnaye, Kevin; Dunn, Diane M; Weiss, Robert B; Bamshad, Michael

Complex signatures of natural selection at GYPA. Journal Article

Human genetics, 137 (2), pp. 151–160, 2018, ISSN: 1432-1203 (Electronic).

Abstract | Links | Tags: Antigens, Binding Sites, Blood Group Antigens, Carbonic Anhydrase IX, epidemiology, Europe, Exons, Falciparum, Genetic, genetics, Glycophorin, High-Throughput Nucleotide Sequencing, Humans, India, Ligands, Malaria, Neoplasm, parasitology, pathogenicity, Plasmodium falciparum, Protein Binding, Protozoan, Protozoan Proteins, Selection

Waldrop, Megan A; Gumienny, Felecia; El Husayni, Saleh ; Frank, Diane E; Weiss, Robert B; Flanigan, Kevin M

Low-level dystrophin expression attenuating the dystrophinopathy phenotype. Journal Article

Neuromuscular disorders : NMD, 28 (2), pp. 116–121, 2018, ISSN: 1873-2364 (Electronic).

Abstract | Links | Tags:

2017

Pugach, Oksana; Cannon, Dale S; Weiss, Robert B; Hedeker, Donald; Mermelstein, Robin J

Classification Tree Analysis as a Method for Uncovering Relations Between CHRNA5A3B4 and CHRNB3A6 in Predicting Smoking Progression in Adolescent Smokers. Journal Article

Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco, 19 (4), pp. 410–416, 2017, ISSN: 1469-994X (Electronic).

Abstract | Links | Tags: Adolescent, Decision Trees, epidemiology, genetics, Humans, Models, Nerve Tissue Proteins, Nicotinic, Receptors, Smoking, Statistical

Butterfield, Russell J; Dunn, Diane M; Hu, Ying; Johnson, Kory; Weiss, Robert B; Bo, G

Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy Journal Article

pp. 1–16, 2017, ISSN: 19326203.

Links | Tags:

Pugach, Oksana; Cannon, Dale S; Weiss, Robert B; Hedeker, Donald; Mermelstein, Robin J

Classification Tree Analysis as a Method for Uncovering Relations Between CHRNA5A3B4 and CHRNB3A6 in Predicting Smoking Progression in Adolescent Smokers Journal Article

Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco, 19 (4), pp. 410–416, 2017, ISSN: 1469994X.

Abstract | Links | Tags:

Gahring, Lorise C; Myers, Elizabeth J; Dunn, Diane M; Weiss, Robert B; Rogers, Scott W

Nicotinic alpha 7 receptor expression and modulation of the lung epithelial response to lipopolysaccharide Journal Article

PLoS ONE, 12 (4), 2017, ISSN: 19326203.

Links | Tags:

Butterfield, Russell J; Dunn, Diane M; Hu, Ying; Johnson, Kory; Bonnemann, Carsten G; Weiss, Robert B

Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy. Journal Article

PloS one, 12 (12), pp. e0189664, 2017, ISSN: 1932-6203 (Electronic).

Abstract | Links | Tags: Adolescent, Adult, Child, Collagen Type VI, congenital, Contracture, diagnosis, Extracellular Matrix, Female, Fibroblasts, Gene Expression Profiling, Gene Expression Regulation, genetics, High-Throughput Nucleotide Sequencing, Humans, Infant, Male, metabolism, methods, Muscular Dystrophies, Mutation, pathology, physiopathology, Preschool, Sclerosis, Sequence Deletion, Transcriptome, Young Adult

2016

Bello, Luca; Flanigan, Kevin M; Weiss, Robert B; Spitali, Pietro; Aartsma-Rus, Annemieke; Muntoni, Francesco; Zaharieva, Irina; Ferlini, Alessandra; Mercuri, Eugenio; Tuffery-Giraud, Sylvie; Claustres, Mireille; Straub, Volker; Lochmuller, Hanns; Barp, Andrea; Vianello, Sara; Pegoraro, Elena; Punetha, Jaya; Gordish-Dressman, Heather; Giri, Mamta; McDonald, Craig M; Hoffman, Eric P

Association Study of Exon Variants in the NF-kappaB and TGFbeta Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy. Journal Article

American journal of human genetics, 99 (5), pp. 1163–1171, 2016, ISSN: 1537-6605 (Electronic).

Abstract | Links | Tags: Adolescent, Alleles, Case-Control Studies, CD40 Antigens, Child, Duchenne, Dystrophin, European Continental Ancestry Group, Exons, Genes, genetics, Genome-Wide Association Study, Glucocorticoids, Humans, Latent TGF-beta Binding Proteins, metabolism, Modifier, Muscular Dystrophy, Mutation, NF-kappa B, Osteopontin, pharmacology, Polymorphism, Single Nucleotide, Transforming Growth Factor beta

Clayton, Adam L; Jackson, Grant D; Weiss, Robert B; Dale, Colin

Adaptation by Deletogenic Replication Slippage in a Nascent Symbiont. Journal Article

Molecular biology and evolution, 33 (8), pp. 1957–1966, 2016, ISSN: 1537-1719 (Electronic).

Abstract | Links | Tags: Acclimatization, Adaptation, Bacteria, Bacterial, DNA, DNA Replication, Enterobacteriaceae, Evolution, genetics, Genome, INDEL Mutation, methods, Molecular, Phenotype, Phylogeny, Physiological, Sequence Analysis, Symbiosis

Cannon, Dale S; Mermelstein, Robin J; Medina, Tait R; Pugach, Oksana; Hedeker, Donald; Weiss, Robert B

CYP2A6 Effects on Subjective Reactions to Initial Smoking Attempt. Journal Article

Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco, 18 (5), pp. 637–641, 2016, ISSN: 1469-994X (Electronic).

Abstract | Links | Tags: Adolescent, Aryl Hydrocarbon Hydroxylases, Cytochrome P-450 CYP2A6, enzymology, Female, genetics, Genotype, Humans, Male, metabolism, Nicotine, Pleasure, psychology, Risk Factors, Smoking, Smoking Cessation, Tobacco Use Disorder

Schwantes-An, Tae-Hwi; Zhang, Juan; Chen, Li-Shiun; Hartz, Sarah M; Culverhouse, Robert C; Chen, Xiangning; Coon, Hilary; Frank, Josef; Kamens, Helen M; Konte, Bettina; Kovanen, Leena; Latvala, Antti; Legrand, Lisa N; Maher, Brion S; Melroy, Whitney E; Nelson, Elliot C; Reid, Mark W; Robinson, Jason D; Shen, Pei-Hong; Yang, Bao-Zhu; Andrews, Judy A; Aveyard, Paul; Beltcheva, Olga; Brown, Sandra A; Cannon, Dale S; Cichon, Sven; Corley, Robin P; Dahmen, Norbert; Degenhardt, Louisa; Foroud, Tatiana; Gaebel, Wolfgang; Giegling, Ina; Glatt, Stephen J; Grucza, Richard A; Hardin, Jill; Hartmann, Annette M; Heath, Andrew C; Herms, Stefan; Hodgkinson, Colin A; Hoffmann, Per; Hops, Hyman; Huizinga, David; Ising, Marcus; Johnson, Eric O; Johnstone, Elaine; Kaneva, Radka P; Kendler, Kenneth S; Kiefer, Falk; Kranzler, Henry R; Krauter, Ken S; Levran, Orna; Lucae, Susanne; Lynskey, Michael T; Maier, Wolfgang; Mann, Karl; Martin, Nicholas G; Mattheisen, Manuel; Montgomery, Grant W; Muller-Myhsok, Bertram; Murphy, Michael F; Neale, Michael C; Nikolov, Momchil A; Nishita, Denise; Nothen, Markus M; Nurnberger, John; Partonen, Timo; Pergadia, Michele L; Reynolds, Maureen; Ridinger, Monika; Rose, Richard J; Rouvinen-Lagerstrom, Noora; Scherbaum, Norbert; Schmal, Christine; Soyka, Michael; Stallings, Michael C; Steffens, Michael; Treutlein, Jens; Tsuang, Ming; Wall, Tamara L; Wodarz, Norbert; Yuferov, Vadim; Zill, Peter; Bergen, Andrew W; Chen, Jingchun; Cinciripini, Paul M; Edenberg, Howard J; Ehringer, Marissa A; Ferrell, Robert E; Gelernter, Joel; Goldman, David; Hewitt, John K; Hopfer, Christian J; Iacono, William G; Kaprio, Jaakko; Kreek, Mary Jeanne; Kremensky, Ivo M; Madden, Pamela A F; McGue, Matt; Munafo, Marcus R; Philibert, Robert A; Rietschel, Marcella; Roy, Alec; Rujescu, Dan; Saarikoski, Sirkku T; Swan, Gary E; Todorov, Alexandre A; Vanyukov, Michael M; Weiss, Robert B; Bierut, Laura J; Saccone, Nancy L

Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta- Analysis of European-Ancestry Cohorts. Journal Article

Behavior genetics, 46 (2), pp. 151–169, 2016, ISSN: 1573-3297 (Electronic).

Abstract | Links | Tags: Adolescent, Adult, Alleles, Case-Control Studies, Child, Cohort Studies, European Continental Ancestry Group, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, genetics, Humans, Male, mu, Opioid, Polymorphism, Receptors, Sample Size, Single Nucleotide, Substance-Related Disorders

Cannon, Dale S; Medina, Tait R; Mermelstein, Robin J; Hedeker, Donald; Bakian, Amanda V; Coon, Hilary; Cook, Edwin H; Hamil, Cindy; Weiss, Robert B

CYP2A6 Longitudinal Effects in Young Smokers. Journal Article

Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco, 18 (2), pp. 196–203, 2016, ISSN: 1469-994X (Electronic).

Abstract | Links | Tags: Adolescent, Age Factors, Biomarkers, Cross-Sectional Studies, Cytochrome P-450 CYP2A6, epidemiology, European Continental Ancestry Group, Female, genetics, Humans, Longitudinal Studies, Male, metabolism, Phenotype, Saliva, Smoking, Smoking Cessation, Young Adult

2015

Mayer, O H; Finkel, R S; Rummey, C; Benton, M J; Glanzman, A M; Flickinger, J; Lindstrom, B-M; Meier, T

Characterization of pulmonary function in Duchenne Muscular Dystrophy. Journal Article

Pediatric pulmonology, 50 (5), pp. 487–494, 2015, ISSN: 1099-0496 (Electronic).

Abstract | Links | Tags: Adolescent, Child, Cohort Studies, Disease Progression, drug therapy, Duchenne, Forced Expiratory Volume, Glucocorticoids, Humans, Lung, Male, methods, Mobility Limitation, Muscular Dystrophy, Peak Expiratory Flow Rate, physiopathology, Preschool, Prospective Studies, Respiratory Function Tests, Spirometry, therapeutic use, Vital Capacity, Walking, Young Adult

Findlay, Andrew R; Wein, Nicolas; Kaminoh, Yuuki; Taylor, Laura E; Dunn, Diane M; Mendell, Jerry R; King, Wendy M; Pestronk, Alan; Florence, Julaine M; Mathews, Katherine D; Finkel, Richard S; Swoboda, Kathryn J; Howard, Michael T; Day, John W; McDonald, Craig; Nicolas, Aurelie; Le Rumeur, Elisabeth ; Weiss, Robert B; Flanigan, Kevin M

Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45. Journal Article

Annals of neurology, 77 (4), pp. 668–674, 2015, ISSN: 1531-8249 (Electronic).

Abstract | Links | Tags: Adolescent, Adult, Aged, Child, Cohort Studies, Databases, diagnosis, Duchenne, Exons, Genetic, Genetic Therapy, genetics, Humans, Male, methods, Middle Aged, Muscular Dystrophy, Phenotype, Predictive Value of Tests, Preschool, therapy, Treatment Outcome, Young Adult

Donkervoort, Sandra; Hu, Ying; Stojkovic, Tanya; Voermans, Nicol C; Foley, Reghan A; Leach, Meganne E; Dastgir, Jahannaz; Bolduc, Veronique; Cullup, Thomas; de Becdelievre, Alix; Yang, Lin; Su, Hai; Meilleur, Katherine; Schindler, Alice B; Kamsteeg, Erik-Jan; Richard, Pascale; Butterfield, Russell J; Winder, Thomas L; Crawford, Thomas O; Weiss, Robert B; Muntoni, Francesco; Allamand, Valerie; Bonnemann, Carsten G

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. Journal Article

Human mutation, 36 (1), pp. 48–56, 2015, ISSN: 1098-1004 (Electronic).

Abstract | Links | Tags: Adolescent, Adult, Aged, Child, Collagen Type VI, congenital, Contracture, Female, genetics, Humans, Male, metabolism, Middle Aged, Mosaicism, Muscles, Muscular Dystrophies, Mutation, pathology, Pedigree, Sclerosis, Young Adult

2014

Wang, Ching-Shuen; Ashton, Nicholas N; Weiss, Robert B; Stewart, Russell J

Peroxinectin catalyzed dityrosine crosslinking in the adhesive underwater silk of a casemaker caddisfly larvae, Hysperophylax occidentalis. Journal Article

Insect biochemistry and molecular biology, 54 , pp. 69–79, 2014, ISSN: 1879-0240 (Electronic).

Abstract | Links | Tags: analogs {&} derivatives, Animals, biosynthesis, chemistry, enzymology, Fibroins, Hydrogen Peroxide, Insect Proteins, Insecta, Larva, metabolism, Peroxidases, Proteome, Reactive Oxygen Species, Silk, Superoxide Dismutase, Transcriptome, Tyrosine

Kohl, Kevin D; Weiss, Robert B; Cox, James; Dale, Colin; Dearing, Denise M

Gut microbes of mammalian herbivores facilitate intake of plant toxins. Journal Article

Ecology letters, 17 (10), pp. 1238–1246, 2014, ISSN: 1461-0248 (Electronic).

Abstract | Links | Tags: Animals, Biological, chemistry, Diet, Gastrointestinal Tract, Herbivory, Larrea, metabolism, microbiology, Microbiota, physiology, Sigmodontinae, Toxins, veterinary

Wein, Nicolas; Vulin, Adeline; Falzarano, Maria S; Szigyarto, Christina Al-Khalili; Maiti, Baijayanta; Findlay, Andrew; Heller, Kristin N; Uhlen, Mathias; Bakthavachalu, Baskar; Messina, Sonia; Vita, Giuseppe; Passarelli, Chiara; Brioschi, Simona; Bovolenta, Matteo; Neri, Marcella; Gualandi, Francesca; Wilton, Steve D; Rodino-Klapac, Louise R; Yang, Lin; Dunn, Diane M; Schoenberg, Daniel R; Weiss, Robert B; Howard, Michael T; Ferlini, Alessandra; Flanigan, Kevin M

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. Journal Article

Nature medicine, 20 (9), pp. 992–1000, 2014, ISSN: 1546-170X (Electronic).

Abstract | Links | Tags: Amino Acid, Amino Acid Sequence, Animals, chemistry, Duchenne, Dystrophin, Exons, genetics, Humans, Mice, Molecular Sequence Data, Muscular Dystrophy, pathology, physiology, Protein Biosynthesis, Protein Isoforms, Sequence Homology

Coon, Hilary; Piasecki, Thomas M; Cook, Edwin H; Dunn, Diane; Mermelstein, Robin J; Weiss, Robert B; Cannon, Dale S

Association of the CHRNA4 neuronal nicotinic receptor subunit gene with frequency of binge drinking in young adults. Journal Article

Alcoholism, clinical and experimental research, 38 (4), pp. 930–937, 2014, ISSN: 1530-0277 (Electronic).

Abstract | Links | Tags: Binge Drinking, Cohort Studies, epidemiology, Female, Genetic Association Studies, genetics, Humans, Longitudinal Studies, Male, methods, Nicotinic, Polymorphism, Protein Subunits, Receptors, Single Nucleotide, Young Adult

Cannon, Dale S; Mermelstein, Robin J; Hedeker, Donald; Coon, Hilary; Cook, Edwin H; McMahon, William M; Hamil, Cindy; Dunn, Diane; Weiss, Robert B

Effect of neuronal nicotinic acetylcholine receptor genes (CHRN) on longitudinal cigarettes per day in adolescents and young adults. Journal Article

Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco, 16 (2), pp. 137–144, 2014, ISSN: 1469-994X (Electronic).

Abstract | Links | Tags: Adolescent, analysis, chemistry, Chicago, Cohort Studies, DNA, epidemiology, Female, Gene Frequency, Genetic Markers, genetics, Genotype, Haplotypes, Human Genome Project, Humans, isolation {&} purification, Longitudinal Studies, Male, Nicotinic, Polymorphism, psychology, Receptors, Saliva, Single Nucleotide, Smoking, Surveys and Questionnaires, Tobacco Use Disorder, Urban Population, Young Adult

Oakeson, Kelly F; Gil, Rosario; Clayton, Adam L; Dunn, Diane M; von Niederhausern, Andrew C; Hamil, Cindy; Aoyagi, Alex; Duval, Brett; Baca, Amanda; Silva, Francisco J; Vallier, Agnes; Jackson, Grant D; Latorre, Amparo; Weiss, Robert B; Heddi, Abdelaziz; Moya, Andres; Dale, Colin

Genome degeneration and adaptation in a nascent stage of symbiosis. Journal Article

Genome biology and evolution, 6 (1), pp. 76–93, 2014, ISSN: 1759-6653 (Electronic).

Abstract | Links | Tags: Adaptation, Animals, Bacterial, Base Sequence, Coleoptera, Enterobacteriaceae, Evolution, genetics, Genome, microbiology, Molecular, Molecular Sequence Data, Physiological, Symbiosis

2013

Stephens, Sarah H; Hartz, Sarah M; Hoft, Nicole R; Saccone, Nancy L; Corley, Robin C; Hewitt, John K; Hopfer, Christian J; Breslau, Naomi; Coon, Hilary; Chen, Xiangning; Ducci, Francesca; Dueker, Nicole; Franceschini, Nora; Frank, Josef; Han, Younghun; Hansel, Nadia N; Jiang, Chenhui; Korhonen, Tellervo; Lind, Penelope A; Liu, Jason; Lyytikainen, Leo-Pekka; Michel, Martha; Shaffer, John R; Short, Susan E; Sun, Juzhong; Teumer, Alexander; Thompson, John R; Vogelzangs, Nicole; Vink, Jacqueline M; Wenzlaff, Angela; Wheeler, William; Yang, Bao-Zhu; Aggen, Steven H; Balmforth, Anthony J; Baumeister, Sebastian E; Beaty, Terri H; Benjamin, Daniel J; Bergen, Andrew W; Broms, Ulla; Cesarini, David; Chatterjee, Nilanjan; Chen, Jingchun; Cheng, Yu-Ching; Cichon, Sven; Couper, David; Cucca, Francesco; Dick, Danielle; Foroud, Tatiana; Furberg, Helena; Giegling, Ina; Gillespie, Nathan A; Gu, Fangyi; Hall, Alistair S; Hallfors, Jenni; Han, Shizhong; Hartmann, Annette M; Heikkila, Kauko; Hickie, Ian B; Hottenga, Jouke Jan; Jousilahti, Pekka; Kaakinen, Marika; Kahonen, Mika; Koellinger, Philipp D; Kittner, Stephen; Konte, Bettina; Landi, Maria-Teresa; Laatikainen, Tiina; Leppert, Mark; Levy, Steven M; Mathias, Rasika A; McNeil, Daniel W; Medland, Sarah E; Montgomery, Grant W; Murray, Tanda; Nauck, Matthias; North, Kari E; Pare, Peter D; Pergadia, Michele; Ruczinski, Ingo; Salomaa, Veikko; Viikari, Jorma; Willemsen, Gonneke; Barnes, Kathleen C; Boerwinkle, Eric; Boomsma, Dorret I; Caporaso, Neil; Edenberg, Howard J; Francks, Clyde; Gelernter, Joel; Grabe, Hans Jorgen; Hops, Hyman; Jarvelin, Marjo-Riitta; Johannesson, Magnus; Kendler, Kenneth S; Lehtimaki, Terho; Magnusson, Patrik K E; Marazita, Mary L; Marchini, Jonathan; Mitchell, Braxton D; Nothen, Markus M; Penninx, Brenda W; Raitakari, Olli; Rietschel, Marcella; Rujescu, Dan; Samani, Nilesh J; Schwartz, Ann G; Shete, Sanjay; Spitz, Margaret; Swan, Gary E; Volzke, Henry; Veijola, Juha; Wei, Qingyi; Amos, Chris; Cannon, Dale S; Grucza, Richard; Hatsukami, Dorothy; Heath, Andrew; Johnson, Eric O; Kaprio, Jaakko; Madden, Pamela; Martin, Nicholas G; Stevens, Victoria L; Weiss, Robert B; Kraft, Peter; Bierut, Laura J; Ehringer, Marissa A

Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking. Journal Article

Genetic epidemiology, 37 (8), pp. 846–859, 2013, ISSN: 1098-2272 (Electronic).

Abstract | Links | Tags: Adolescent, Age of Onset, Cotinine, Female, Genetic Loci, Genetic Predisposition to Disease, genetics, Humans, Internationality, Linkage Disequilibrium, Male, metabolism, Multigene Family, Nerve Tissue Proteins, Nicotinic, Phenotype, Polymorphism, Receptors, Single Nucleotide, Smoking, Tobacco Use Disorder

Butterfield, Russell J; Foley, Reghan A; Dastgir, Jahannaz; Asman, Stephanie; Dunn, Diane M; Zou, Yaqun; Hu, Ying; Donkervoort, Sandra; Flanigan, Kevin M; Swoboda, Kathryn J; Winder, Thomas L; Weiss, Robert B; Bonnemann, Carsten G

Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. Journal Article

Human mutation, 34 (11), pp. 1558–1567, 2013, ISSN: 1098-1004 (Electronic).

Abstract | Links | Tags: Adolescent, Adult, Amino Acid Substitution, chemistry, Child, Collagen Type VI, Fibroblasts, Genetic Association Studies, genetics, Glycine, Humans, Inheritance Patterns, metabolism, Middle Aged, Muscle, Muscular Diseases, Mutation, pathology, Phenotype, Preschool, Protein Interaction Domains and Motifs, Severity of Illness Index, Skeletal, Skin, Young Adult

Ashton, Nicholas N; Roe, Daniel R; Weiss, Robert B; Cheatham, Thomas 3rd E; Stewart, Russell J

Self-tensioning aquatic caddisfly silk: Ca2+-dependent structure, strength, and load cycle hysteresis. Journal Article

Biomacromolecules, 14 (10), pp. 3668–3681, 2013, ISSN: 1526-4602 (Electronic).

Abstract | Links | Tags: Activity Cycles, Animals, Calcium, chemistry, Insecta, Models, Molecular, Molecular Dynamics Simulation, Molecular Structure, Silk, Tensile Strength, Water

Flanigan, Kevin M; Ceco, Ermelinda; Lamar, Kay-Marie; Kaminoh, Yuuki; Dunn, Diane M; Mendell, Jerry R; King, Wendy M; Pestronk, Alan; Florence, Julaine M; Mathews, Katherine D; Finkel, Richard S; Swoboda, Kathryn J; Gappmaier, Eduard; Howard, Michael T; Day, John W; McDonald, Craig; McNally, Elizabeth M; Weiss, Robert B

LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Journal Article

Annals of neurology, 73 (4), pp. 481–488, 2013, ISSN: 1531-8249 (Electronic).

Abstract | Links | Tags: drug effects, drug therapy, Duchenne, Extracellular Matrix Proteins, Female, Fibroblasts, Genetic Predisposition to Disease, Genetic Testing, genetics, Genotype, Glucocorticoids, Humans, Latent TGF-beta Binding Proteins, Male, metabolism, Mobility Limitation, Muscular Dystrophy, pharmacology, physiopathology, Polymorphism, Single Nucleotide, Smad Proteins

Flanigan, Kevin M; Wein, Nicolas; Gurvich, Olga L; Howard, Michael T; Weiss, Robert B

Becker muscular dystrophy with widespread muscle hypertrophy and a non- sense mutation of exon 2. Miscellaneous

2013, ISSN: 1873-2364 (Electronic).

Links | Tags: Codon, Duchenne, Dystrophin, Exons, genetics, Humans, Male, Muscles, Muscular Dystrophy, Nonsense, pathology

Wagner, Lori A; Wang, Shuping; Wayner, Elizabeth A; Christensen, Clarissa; Perkins, Sherrie J; Ward, Gavin W; Weiss, Robert B; Dunn, Diane M; Redd, Michael J; Spangrude, Gerald J; Gleich, Gerald J

Developing and mature human granulocytes express ELP 6 in the cytoplasm. Journal Article

Human antibodies, 22 (1-2), pp. 21–29, 2013, ISSN: 1875-869X (Electronic).

Abstract | Links | Tags: Antigens, Bone Marrow Cells, CD34, Cell Differentiation, Cells, Cultured, cytology, drug effects, Eosinophils, Fetal Blood, Gene Expression Profiling, Gene Expression Regulation, genetics, Histone Acetyltransferases, Humans, Immunophenotyping, Interleukin-5, Messenger, metabolism, Monocytes, Neutrophils, pharmacology, Proteins, RNA

2012

Hartz, Sarah M; Short, Susan E; Saccone, Nancy L; Culverhouse, Robert; Chen, LiShiun; Schwantes-An, Tae-Hwi; Coon, Hilary; Han, Younghun; Stephens, Sarah H; Sun, Juzhong; Chen, Xiangning; Ducci, Francesca; Dueker, Nicole; Franceschini, Nora; Frank, Josef; Geller, Frank; Gubjartsson, Daniel; Hansel, Nadia N; Jiang, Chenhui; Keskitalo-Vuokko, Kaisu; Liu, Zhen; Lyytikainen, Leo-Pekka; Michel, Martha; Rawal, Rajesh; Rosenberger, Albert; Scheet, Paul; Shaffer, John R; Teumer, Alexander; Thompson, John R; Vink, Jacqueline M; Vogelzangs, Nicole; Wenzlaff, Angela S; Wheeler, William; Xiao, Xiangjun; Yang, Bao-Zhu; Aggen, Steven H; Balmforth, Anthony J; Baumeister, Sebastian E; Beaty, Terri; Bennett, Siiri; Bergen, Andrew W; Boyd, Heather A; Broms, Ulla; Campbell, Harry; Chatterjee, Nilanjan; Chen, Jingchun; Cheng, Yu-Ching; Cichon, Sven; Couper, David; Cucca, Francesco; Dick, Danielle M; Foroud, Tatiana; Furberg, Helena; Giegling, Ina; Gu, Fangyi; Hall, Alistair S; Hallfors, Jenni; Han, Shizhong; Hartmann, Annette M; Hayward, Caroline; Heikkila, Kauko; Hewitt, John K; Hottenga, Jouke Jan; Jensen, Majken K; Jousilahti, Pekka; Kaakinen, Marika; Kittner, Steven J; Konte, Bettina; Korhonen, Tellervo; Landi, Maria-Teresa; Laatikainen, Tiina; Leppert, Mark; Levy, Steven M; Mathias, Rasika A; McNeil, Daniel W; Medland, Sarah E; Montgomery, Grant W; Muley, Thomas; Murray, Tanda; Nauck, Matthias; North, Kari; Pergadia, Michele; Polasek, Ozren; Ramos, Erin M; Ripatti, Samuli; Risch, Angela; Ruczinski, Ingo; Rudan, Igor; Salomaa, Veikko; Schlessinger, David; Styrkarsdottir, Unnur; Terracciano, Antonio; Uda, Manuela; Willemsen, Gonneke; Wu, Xifeng; Abecasis, Goncalo; Barnes, Kathleen; Bickeboller, Heike; Boerwinkle, Eric; Boomsma, Dorret I; Caporaso, Neil; Duan, Jubao; Edenberg, Howard J; Francks, Clyde; Gejman, Pablo V; Gelernter, Joel; Grabe, Hans Jorgen; Hops, Hyman; Jarvelin, Marjo-Riitta; Viikari, Jorma; Kahonen, Mika; Kendler, Kenneth S; Lehtimaki, Terho; Levinson, Douglas F; Marazita, Mary L; Marchini, Jonathan; Melbye, Mads; Mitchell, Braxton D; Murray, Jeffrey C; Nothen, Markus M; Penninx, Brenda W; Raitakari, Olli; Rietschel, Marcella; Rujescu, Dan; Samani, Nilesh J; Sanders, Alan R; Schwartz, Ann G; Shete, Sanjay; Shi, Jianxin; Spitz, Margaret; Stefansson, Kari; Swan, Gary E; Thorgeirsson, Thorgeir; Volzke, Henry; Wei, Qingyi; Wichmann, H-Erich; Amos, Christopher I; Breslau, Naomi; Cannon, Dale S; Ehringer, Marissa; Grucza, Richard; Hatsukami, Dorothy; Heath, Andrew; Johnson, Eric O; Kaprio, Jaakko; Madden, Pamela; Martin, Nicholas G; Stevens, Victoria L; Stitzel, Jerry A; Weiss, Robert B; Kraft, Peter; Bierut, Laura J

Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers. Journal Article

Archives of general psychiatry, 69 (8), pp. 854–860, 2012, ISSN: 1538-3636 (Electronic).

Abstract | Links | Tags: Adolescent, Adolescent Development, Adult, Age of Onset, drug effects, epidemiology, Europe, Female, Gene-Environment Interaction, Genetic Association Studies, Genetic Predisposition to Disease, genetics, Humans, Male, Nerve Tissue Proteins, Nicotine, Nicotinic, pharmacology, Polymorphism, psychology, Receptors, Severity of Illness Index, Single Nucleotide, Smoking, Tobacco Use Disorder

Chen, Li-Shiun; Baker, Timothy B; Piper, Megan E; Breslau, Naomi; Cannon, Dale S; Doheny, Kimberly F; Gogarten, Stephanie M; Johnson, Eric O; Saccone, Nancy L; Wang, Jen C; Weiss, Robert B; Goate, Alison M; Bierut, Laura Jean

Interplay of genetic risk factors (CHRNA5-CHRNA3-CHRNB4) and cessation treatments in smoking cessation success. Journal Article

The American journal of psychiatry, 169 (7), pp. 735–742, 2012, ISSN: 1535-7228 (Electronic).

Abstract | Links | Tags: Age Factors, Clinical Trials as Topic, drug therapy, Female, genetics, Haplotypes, Humans, Male, methods, Middle Aged, Nerve Tissue Proteins, Nicotinic, Receptors, Risk Factors, Smoking Cessation, statistics {&} numerical data, Tobacco Use Disorder

Mendell, Jerry R; Shilling, Chris; Leslie, Nancy D; Flanigan, Kevin M; Al-Dahhak, Roula; Gastier-Foster, Julie; Kneile, Kelley; Dunn, Diane M; Duval, Brett; Aoyagi, Alexander; Hamil, Cindy; Mahmoud, Maha; Roush, Kandice; Bird, Lauren; Rankin, Chelsea; Lilly, Heather; Street, Natalie; Chandrasekar, Ram; Weiss, Robert B

Evidence-based path to newborn screening for Duchenne muscular dystrophy. Journal Article

Annals of neurology, 71 (3), pp. 304–313, 2012, ISSN: 1531-8249 (Electronic).

Abstract | Links | Tags: diagnosis, Duchenne, Evidence-Based Medicine, Female, genetics, Humans, Infant, Male, methods, Muscular Dystrophy, Mutation, Neonatal Screening, Newborn, Pilot Projects

Clayton, Adam L; Oakeson, Kelly F; Gutin, Maria; Pontes, Arthur; Dunn, Diane M; von Niederhausern, Andrew C; Weiss, Robert B; Fisher, Mark; Dale, Colin

A novel human-infection-derived bacterium provides insights into the evolutionary origins of mutualistic insect-bacterial symbioses. Journal Article

PLoS genetics, 8 (11), pp. e1002990, 2012, ISSN: 1553-7404 (Electronic).

Abstract | Links | Tags: Animals, Bacteria, Biological Evolution, Enterobacteriaceae, Evolution, genetics, Host-Parasite Interactions, Humans, Insecta, microbiology, Molecular, Molecular Sequence Data, pathogenicity, Symbiosis, Tsetse Flies

Kaltenpoth, Martin; Showers Corneli, Patrice ; Dunn, Diane M; Weiss, Robert B; Strohm, Erhard; Seger, Jon

Accelerated evolution of mitochondrial but not nuclear genomes of Hymenoptera: new evidence from crabronid wasps. Journal Article

PloS one, 7 (3), pp. e32826, 2012, ISSN: 1932-6203 (Electronic).

Abstract | Links | Tags: Animals, AT Rich Sequence, Base Composition, classification, Evolution, Gene Order, genetics, Genome, Hymenoptera, Insect, Mitochondrial, Molecular, Mutation Rate, Open Reading Frames, Phylogeny, Ribosomal, RNA, Transfer, Wasps

2011

Weiss, Robert B; Atkins, John F

Molecular biology. Translation goes global. Journal Article

Science (New York, N.Y.), 334 (6062), pp. 1509–1510, 2011, ISSN: 1095-9203 (Electronic).

Links | Tags: Animals, Gene Expression Profiling, Gene Expression Regulation, Humans, Messenger, metabolism, Mice, Open Reading Frames, Protein Biosynthesis, Proteome, Ribosomes, RNA

Flanigan, Kevin M; Dunn, Diane; Larsen, Aaron C; Medne, Livija; Bonnemann, Carsten B; Weiss, Robert B

Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene. Journal Article

Muscle & nerve, 44 (5), pp. 822–825, 2011, ISSN: 1097-4598 (Electronic).

Abstract | Links | Tags: Child, diagnosis, Duchenne, Dystrophin, Exons, genetics, Humans, Male, Muscular Dystrophy, Preschool, Sequence Inversion

Flanigan, Kevin M; Dunn, Diane M; von Niederhausern, Andrew; Soltanzadeh, Payam; Howard, Michael T; Sampson, Jacinda B; Swoboda, Kathryn J; Bromberg, Mark B; Mendell, Jerry R; Taylor, Laura E; Anderson, Christine B; Pestronk, Alan; Florence, Julaine M; Connolly, Anne M; Mathews, Katherine D; Wong, Brenda; Finkel, Richard S; Bonnemann, Carsten G; Day, John W; McDonald, Craig; Weiss, Robert B

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. Journal Article

Human mutation, 32 (3), pp. 299–308, 2011, ISSN: 1098-1004 (Electronic).

Abstract | Links | Tags: Codon, Duchenne, Dystrophin, Exons, Female, genetics, Humans, Male, metabolism, Muscular Dystrophy, Nonsense, Phenotype, RNA Splicing

2010

Xing, Jinchuan; Watkins, Scott W; Shlien, Adam; Walker, Erin; Huff, Chad D; Witherspoon, David J; Zhang, Yuhua; Simonson, Tatum S; Weiss, Robert B; Schiffman, Joshua D; Malkin, David; Woodward, Scott R; Jorde, Lynn B

Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping. Journal Article

Genomics, 96 (4), pp. 199–210, 2010, ISSN: 1089-8646 (Electronic).

Abstract | Links | Tags: Demography, DNA Copy Number Variations, Genetic Speciation, Genetic Variation, genetics, Genome-Wide Association Study, Genotype, Geography, Haplotypes, Humans, Medical, methods, Phylogeny, physiology, Polymorphism, Population, Sampling Studies, Single Nucleotide, statistics {&} numerical data, trends

Saccone, Nancy L; Culverhouse, Robert C; Schwantes-An, Tae-Hwi; Cannon, Dale S; Chen, Xiangning; Cichon, Sven; Giegling, Ina; Han, Shizhong; Han, Younghun; Keskitalo-Vuokko, Kaisu; Kong, Xiangyang; Landi, Maria Teresa; Ma, Jennie Z; Short, Susan E; Stephens, Sarah H; Stevens, Victoria L; Sun, Lingwei; Wang, Yufei; Wenzlaff, Angela S; Aggen, Steven H; Breslau, Naomi; Broderick, Peter; Chatterjee, Nilanjan; Chen, Jingchun; Heath, Andrew C; Heliovaara, Markku; Hoft, Nicole R; Hunter, David J; Jensen, Majken K; Martin, Nicholas G; Montgomery, Grant W; Niu, Tianhua; Payne, Thomas J; Peltonen, Leena; Pergadia, Michele L; Rice, John P; Sherva, Richard; Spitz, Margaret R; Sun, Juzhong; Wang, Jen C; Weiss, Robert B; Wheeler, William; Witt, Stephanie H; Yang, Bao-Zhu; Caporaso, Neil E; Ehringer, Marissa A; Eisen, Tim; Gapstur, Susan M; Gelernter, Joel; Houlston, Richard; Kaprio, Jaakko; Kendler, Kenneth S; Kraft, Peter; Leppert, Mark F; Li, Ming D; Madden, Pamela A F; Nothen, Markus M; Pillai, Sreekumar; Rietschel, Marcella; Rujescu, Dan; Schwartz, Ann; Amos, Christopher I; Bierut, Laura J

Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD. Journal Article

PLoS genetics, 6 (8), 2010, ISSN: 1553-7404 (Electronic).

Abstract | Links | Tags: 80 and over, Adolescent, Adult, Aged, Chromosomes, Chronic Obstructive, European Continental Ancestry Group, Female, genetics, Human, Humans, Lung Neoplasms, Male, Middle Aged, Nerve Tissue Proteins, Nicotinic, Pair 15, Polymorphism, Pulmonary Disease, Receptors, Single Nucleotide, Smoking, Young Adult

Soltanzadeh, Payam; Friez, Michael J; Dunn, Diane; von Niederhausern, Andrew; Gurvich, Olga L; Swoboda, Kathryn J; Sampson, Jacinda B; Pestronk, Alan; Connolly, Anne M; Florence, Julaine M; Finkel, Richard S; Bönnemann, Carsten G; Medne, Livija; Mendell, Jerry R; Mathews, Katherine D; Wong, Brenda L; Sussman, Michael D; Zonana, Jonathan; Kovak, Karen; Gospe, Sidney M; Gappmaier, Eduard; Taylor, Laura E; Howard, Michael T; Weiss, Robert B; Flanigan, Kevin M

Clinical and genetic characterization of manifesting carriers of DMD mutations Journal Article

Neuromuscular Disorders, 20 (8), pp. 499–504, 2010, ISSN: 09608966.

Abstract | Links | Tags: Becker muscular dystrophy, DMD, Duchenne muscular dystrophy, Dystrophin, Dystrophinopathy, Manifesting carriers, X-chromosome inactivation

2009

Flanigan, Kevin M; Dunn, Diane M; von Niederhausern, Andrew; Soltanzadeh, Payam; Gappmaier, Eduard; Howard, Michael T; Sampson, Jacinda B; Mendell, Jerry R; Wall, Cheryl; King, Wendy M; Pestronk, Alan; Florence, Julaine M; Connolly, Anne M; Mathews, Katherine D; Stephan, Carrie M; Laubenthal, Karla S; Wong, Brenda L; Morehart, Paula J; Meyer, Amy; Finkel, Richard S; Bonnemann, Carsten G; Medne, Livija; Day, John W; Dalton, Joline C; Margolis, Marcia K; Hinton, Veronica J; Weiss, Robert B

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Journal Article

Human mutation, 30 (12), pp. 1657–1666, 2009, ISSN: 1098-1004 (Electronic).

Abstract | Links | Tags: Amino Acid Sequence, Amino Acid Substitution, chemistry, Cohort Studies, diagnosis, Diagnostic Techniques and Procedures, Duchenne, Dystrophin, Exons, genetics, Haplotypes, Humans, Molecular Sequence Data, Muscular Dystrophy, Mutation, Phenotype, Polymorphism, Single Nucleotide

Foley, Reghan A; Hu, Ying; Zou, Yaqun; Columbus, Alexandra; Shoffner, John; Dunn, Diane M; Weiss, Robert B; Bonnemann, Carsten G

Autosomal recessive inheritance of classic Bethlem myopathy. Journal Article

Neuromuscular disorders : NMD, 19 (12), pp. 813–817, 2009, ISSN: 1873-2364 (Electronic).

Abstract | Links | Tags: Adult, Amino Acid, Amino Acid Sequence, Collagen Type VI, Dermis, Exons, Fibroblasts, Genes, genetics, Heterozygote, Humans, Male, metabolism, Missense, Molecular Sequence Data, Muscular Diseases, Mutation, Pedigree, Phenotype, Recessive, Sequence Deletion, Sequence Homology

Kaspar, Rita Wen; Allen, Hugh D; Ray, Will C; Alvarez, Carlos E; Kissel, John T; Pestronk, Alan; Weiss, Robert B; Flanigan, Kevin M; Mendell, Jerry R; Montanaro, Federica

Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy. Journal Article

Circulation. Cardiovascular genetics, 2 (6), pp. 544–551, 2009, ISSN: 1942-3268 (Electronic).

Abstract | Links | Tags: Adolescent, Adult, Age of Onset, Cardiomyopathy, Child, Cross-Sectional Studies, Dilated, Duchenne, Dystrophin, epidemiology, Female, genetics, Humans, Male, Muscular Dystrophy, Sequence Deletion, Young Adult

Flanigan, Kevin M; Dunn, Diane M; von Niederhausern, Andrew; Howard, Michael T; Mendell, Jerry; Connolly, Anne; Saunders, Carol; Modrcin, Ann; Dasouki, Majed; Comi, Giacomo P; Del Bo, Roberto ; Pickart, Angela; Jacobson, Richard; Finkel, Richard; Medne, Livija; Weiss, Robert B

DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. Journal Article

Neuromuscular disorders : NMD, 19 (11), pp. 743–748, 2009, ISSN: 1873-2364 (Electronic).

Abstract | Links | Tags: Adolescent, Child, Chromosomes, Codon, Duchenne, Dystrophin, Exons, Family Health, Female, Founder Effect, genetics, Genome-Wide Association Study, Human, Humans, Italy, Male, methods, Middle Aged, Muscular Dystrophy, Nonsense, North America, Preschool, Tryptophan, X, Young Adult

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