137 entries « 1 of 3 »

2016

Cannon, DS; Mermelstein, RJ; Medina, TR; Pugach, O; Hedeker, D; Weiss, RB

CYP2A6 Effects on Subjective Reactions to Initial Smoking Attempt Journal Article

Nicotine Tob Res, 18 (5), pp. 637-41, 2016.

BibTeX | Tags: cannon, smoking

Schwantes-An, TH; Zhang, J; Chen, LS; Hartz, SM; Culverhouse, RC; Chen, X; Coon, H; Frank, J; Kamens, HM; Konte, B; Kovanen, L; Latvala, A; Legrand, LN; Maher, BS; Melroy, WE; Nelson, EC; Reid, MW; Robinson, JD; Shen, PH; Yang, BZ; Andrews, JA; Aveyard, P; Beltcheva, P; Brown, SA; Cannon, DS; Cichon, S; Corley, RP; Dahmen, N; Degenhardt, L; Foroud, T; Gaebel, W; Giegling, I; Glatt, SJ; Grucza, RA; Hardin, J; Hartmann, AM; Heath, AC; Herms, S; Hodgkinson, CA; Hoffmann, P; Hops, H; Huizinga, D; Ising, M; Johnson, EO; Johnstone, E; Kaneva, RP; Kendler, KS; Kiefer, F; Kranzler, HR; Krauter, KS; Levran, O; Lucae, S; Lynskey, MT; Maier, W; Mann, K; Martin, NG; Mattheisen, M; Montgomery, GW; Müller-Myhsok, B; Murphy, MF; Neale, MC; Nikolov, MA; Nishita, D; Nöthen, MM; Nurnberger, J; Partonen, T; Pergadia, ML; Reynolds, M; Ridinger, M; Rose, RJ; Rouvinen-Lagerström, N; Scherbaum, N; Schmäl, C; Soyka, M; Stallings, MC; Steffens, M; Treutlein, J; Tsuang, M; Wall, TL; Wodarz, N; Yuferov, V; Zill, P; Bergen, AW; Chen, J; Cinciripini, PM; Edenberg, HJ; Ehringer, MA; Ferrell, RE; Gelernter, J; Goldman, D; Hewitt, JK; Hopfer, CJ; Iacono, WG; Kaprio, J; Kreek, MJ; Kremensky, IM; Madden, PA; McGue, M; Munafò, MR; Philibert, RA; Rietschel, M; Roy, A; Rujescu, D; Saarikoski, ST; Swan, GE; Todorov, AA; Vanyukov, MM; Weiss, RB; Bierut, LJ; Saccone, NL

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

Behav Genet, 46 (2), pp. 151-69, 2016.

BibTeX | Tags: oprm1, schwantes-an

Clayton, AL; Jackson, DG; Weiss, RB; Dale, C

Adaptation by Deletogenic Replication Slippage in a Nascent Symbiont Journal Article

Mol Biol Evol, 2016 (4), 2016.

BibTeX | Tags: clayton, symbiont

Cannon, DS; Medina, TR; Mermelstein, RJ; Hedeker, D; Bakian, AV; Coon, H; Cook, EH; Hamil, C; Weiss, RB

CYP2A6 Longitudinal Effects in Young Smokers Journal Article

Nicotine Tob Res, 18 (2), pp. 196-203, 2016.

BibTeX | Tags: cannon, smokers

2015

Donkervoort, S; Hu, Y; Stojkovic, T; Voermans, NC; Foley, AR; Leach, ME; Dastgir, J; Bolduc, V; Cullup, T; de Becdelièvre, A; Yang, L; Su, H; Meilleur, K; Schindler, AB; Kamsteeg, EJ; Richard, P; Butterfield, RJ; Winder, TL; Crawford, TO; Weiss, RB; Muntoni, F; Allamand, V; Bönnemann, CG

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

Hum Mutat, 36 (1), pp. 48-56, 2015.

BibTeX | Tags: collegen, donkervoort, phenotypic

Wein, N; Vulin, A; Falzarano, MS; Szigyarto, CA; Maiti, B; Findlay, A; Heller, KN; Uhlén, M; Bakthavachalu, B; Messina, S; Vita, G; Passarelli, C; Brioschi, S; Bovolenta, M; Neri, M; Gualandi, F; Wilton, SD; Rodino-Klapac, LR; Yang, L; Dunn, DM; Schoenberg, DR; Weiss, RB; Howard, MT; Ferlini, A; Flanigan, KM

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

Nat Med, 21 (5), pp. 537, 2015.

BibTeX | Tags: DMD, mice, wein

Wein, N; Vulin, A; Falzarano, MS; Szigyarto, CA; Maiti, B; Findlay, A; Heller, KN; Uhlén, M; Bakthavachalu, B; Messina, S; Vita, G; Passarelli, C; Gualandi, F; Wilton, SD; Rodino-Klapac, LR; Yang, L; Dunn, DM; Schoenberg, DR; Weiss, RB; Howard, MT; Ferlini, A; Flanigan, KM

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

Nat Med, 21 (4), pp. 414, 2015.

BibTeX | Tags: DMD, dystrophin, wein

Findlay, AR; Wein, N; Kaminoh, Y; Taylor, LE; Dunn, DM; Mendell, JR; King, WM; Pestronk, A; Florence, JM; Mathews, KD; Finkel, RS; Swoboda, KJ; Howard, MT; Day, JW; McDonald, C; Nicolas, A; Rumeur, Le E; Weiss, RB; Flanigan, KM

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

Ann Neurol, 77 (4), pp. 668-74, 2015.

BibTeX | Tags: DMD, findlay, phenotypes

2014

Butterfield, RJ; Stevenson, TJ; Xing, L; Newcomb, TM; Nelson, B; Zeng, W; Li, X; Lu, HM; Lu, H; Gonzalez, KD Farwell; Wei, JP; Chao, EC; Prior, TW; Snyder, PJ; Bonkowsky, JL; Swoboda, KJ

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis Journal Article

Neurology, 82 (15), pp. 1322-30, 2014.

BibTeX | Tags: butterfield, disease, ribosome

Hu, Y; Donkervoot, S; Stojkovic, T; Voermans, N; Foley, AR; Leach, M; Dastgir, J; Bolduc, V; Cullup, T; Becdelièvre, A; Yang, L; Su, H; Meilleur, K; Schindler, A; Kamsteeg, E; Richard, P; Butterfield, RJ; Winder, T; Crawford, T; Weiss, R; Muntoni, F; Allamand, V; Bönnemann, C

Mosaicism for dominant COLVI mutations as a cause for intra-familial phenotypic variability Journal Article

Neuromuscular Disorders, 24 (9-10), pp. 881, 2014.

BibTeX | Tags: hu, mutations COLVI

Hayes, HA; Dixon, M; Powell-Versteeg, A; Snyder, R; Butterfield, RJ; Johnson, ME

Assessment of six-minute walk test in children with congenital myotonic dystrophy: preliminary results Journal Article

Muscle & Nerve, 50 (S1), pp. S5, 2014.

BibTeX | Tags: dystrophy, hayes, test

Butterfield, RJ; Bonnemann, C; Weiss, RB

Transcriptome profiling identifies key differences between patients with recessive or dominant negative mutations in collagen VI related myopathies Journal Article

Muscle & Nerve, 50 (S1), pp. S4, 2014.

BibTeX | Tags: butterfield, myopathies, transciptome

Dorn, Van C; Puchalski, M; Weng, H; Butterfield, RJ; Bleyl, S; Williams, R

Does genotype predict age of onset of cardiomyopathy in patients with Duchenne muscular dystrophy? Journal Article

J Am Coll Cardiol, 62 (12_S), 2014.

BibTeX | Tags: DMD, genotype, van dorn

Wang, CS; Ashton, NN; Weiss, RB; Stewart, RJ

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.

BibTeX | Tags: perxinectin, silk, wang

Kohl, KD; Weiss, RB; Cox, J; Dale, C; Dearing, MD

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

ecology letters, 17 (10), pp. 1238-46, 2014.

BibTeX | Tags: kohl, microbes

Donkervoort, S; Hu, Y; Stojkovic, T; Voermans, N; Foley, AR; Leach, ME; Dastgir, J; Bolduc, V; Cullup, T; de Becdelievre, A; Yang, L; Su, H; Meilleur, K; Schindler, AB; Kamsteeg, EJ; Richard, P; Butterfield, R; Winder, TL; Crawford, T; Weiss, RB; Muntoni, F; Allamand, V; Bonnemann, CG

Mosaicism for Dominant Collagen VI Mutations as a Cause for Intra-Familial Phenotypic Variability Journal Article

human mutation, 10.1002 (22691), 2014.

BibTeX | Tags: collagen, donkervoort

Wein, N; Vulin, A; Falzarano, MS; Szigyarto, CA; Maiti, B; Findlay, A; Heller, KN; Uhlen, M; Bakthavachalu, B; Messina, S; Vita, G; Passarelli, C; Gualandi, F; Wilton, SD; Rodino-Klapac, LR; Yang, L; Dunn, DM; Schoenberg, ; Weiss, RB; Howard, MT; Ferlini, A; Flanigan, KM

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.

BibTeX | Tags: DMD, dystrophin, wein

d Yu,; ca Mathews,; Scharf, JM; Neale, BM; Davis, LK; Gamazon, ER; Derks, EM; Evans, P; Edlund, CK; Crane, J; Fagerness, JA; Osiecki, L; Gallagher, P; Gerber, G; Haddad, S; Illmann, C; McGrath, LM; Mayerfeld, C; Arepalli, S; Barlassina, C; Barr, CL; Bellodi, L; Benarroch, F; Berrio, GB; Bienvenu, OJ; Black, DW; Bloch, MH; Brentani, H; Bruun, RD; Budman, CL; Camarena, B; Campbell, DD; Cappi, C; Silgado, JC; Cavallini, MC; Chavira, DA; Chouinard, S; Cook, EH; Cookson, MR; Coric, V; Cullen, B; Cusi, D; Delorme, R; Denys, D; Dion, Y; Eapen, V; Egberts, K; Falkai, P; Fernandez, T; Fournier, E; Garrido, H; Geller, D; Gilbert, D; Girard, SL; Grabe, HJ; Grados, MA; Greenberg, BD; Gross-Tsur, V; Grunblatt, E; Hardy, J; Heiman, GA; Hemmings, SM; Herrera, LD; Hezel, DM; Hoekstra, PJ; Jankovic, J; Kennedy, JL; King, RA; Konkashbaev, AI; Kremeyer, B; Kurlan, R; Lanzagorta, N; Leboyer, M; Leckman, JF; Lennertz, L; Liu, C; Lochner, C; Lowe, TL; Lupoli, S; Macciardi, F; Maier, W; Manunta, P; Marconi, M; McCracken, JT; Restrepo, SC Mesa; Moessner, R; Moorjani, P; Morgan, J; Muller, H; Murphy, DL; Naarden, AL; Nurmi, E; Ochoa, WC; Ophoff, RA; Pakstis, AJ; Pato, MT; Pato, CN; Piacentini, J; Pittenger, C; Pollak, Y; Rauch, SL; Renner, T; Reus, VI; Richter, MA; Middle, RA; Robertson, MM; Romero, R; Rosario, MC; Rosenberg, D; Ruhrmann, S; Sabatti, C; Salvi, E; Sampaio, AS; Samuels, J; Sandor, P; Service, SK; Sheppard, B; Singer, HS; Smit, JH; Stein, DJ; Strengman, E; Tischfield, JA; Turiel, M; Duarte, AV Valencia; Vallada, H; Veenstra-VanderWeele, J; Walitza, S; Wang, Y; Weale, M; Weiss, R; Wendland, JR; Westenberg, HG; Shugart, YY; Hounie, AG; Miguel, EC; Nicolini, H; Wagner, M; Ruiz-Linares, A; dc Cath,; McMahon, W; Posthuma, D; Oostra, BA; Nestadt, G; Rouleau, GA; Purcell, S; Jenike, MA; Heutink, P; Hanna, GL; Conti, DV; Arnold, PD; Freimer, NB; Stewart, SE; Knowles, JA; Cox, NJ; Pauls, DL

Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette’s Syndrome and OCD Journal Article

american journal of psychiatry, 10 , pp. 1176, 2014.

BibTeX | Tags: genome, tourette, yu

Coon, H; TMPiasecki, ; Cook, EH; Dunn, D; RJMermelstein, ; Weiss, RB; Cannon, DS

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. 930-7, 2014.

BibTeX | Tags: alcolohism, coon

Cannon, DS; Mermelstein, RJ; Hedeker, D; Coon, H; Cook, EH; McMahon, WM; Hamil, C; Dunn, D; Weiss, RB

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

Nicotine & Tobacco Research, 16 (2), pp. 137-44, 2014.

BibTeX | Tags: cannon, nicotine

Oakeson, KF; Gil, R; Clayton, AL; Munn, DM; von Niederhausern, AC; Hamil, C; Aoyagi, A; Duval, B; Baca, A; Silva, FJ; Vallier, A; Jackson, DG; Latorre, A; Weiss, RB; Heddi, A; Moya, A; Dale, C

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

Genome Biology and Evolution, 6 (1), pp. 76-93, 2014.

BibTeX | Tags: oakeson, symbiosis

2013

Butterfield, RJ; Foley, AR; Dastgir, J; Asman, S; Dunn, DM; Zou, Y; Hu, Y; Donkervoort, S; Flanigan, KM; Swoboda, KJ; Winder, TL; Weiss, RB; Bonnemann, CG

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

Hum Mutat, 34 (11), pp. 1558-67, 2013.

BibTeX | Tags: butterfield, collagen, glycine

Stephens, SH; Hartz, SM; Hoft, NR; Saccone, NL; Corley, RC; Hewitt, JK; Hopfer, CJ; Breslau, N; Coon, H; Chen, X; Ducci, F; Dueker, N; Franceschini, N; Frank, J; Han, Y; Hansel, NN; Jiang, C; Korhonen, T; Lind, PA; Liu, J; Lyytikainen, LP; Michel, M; Shaffer, JR; Short, SE; Sun, J; Teumer, A; Thompson, JR; Vogelzangs, N; Vink, JM; Wenzlaff, A; Wheeler, W; Yang, BZ; Aggen, SH; Balmforth, AJ; Baumeister, SE; Beaty, TH; Benjamin, DJ; Bergen, AW; Broms, U; Cesarini, D; Chatterjee, N; Chen, J; Cheng, YC; Cichon, S; Couper, D; Cucca, F; Dick, D; Foroud, T; Furberg, H; Giegling, I; Gillespie, NA; Gu, F; Hall, AS; Hallfors, J; Han, S; Hartmann, AM; Heikkila, K; Hickie, IB; Hottenga, JJ; Jousilahti, P; Kaakinen, M; Kahonen, M; Koellinger, PD; Kittner, S; Konte, B; Landi, MT; Laatikainen, T; Leppert, M; Levy, SM; Mathias, RA; McNeil, DW; Medland, SE; Montgomery, GW; Murray, T; Nauck, M; North, KE; Pare, PD; Pergadia, M; Ruczinski, I; Salomaa, V; Viikari, J; Willemsen, G; Barnes, KC; Boerwinkle, E; Boomsma, DI; Caporaso, N; Edenberg, HJ; Francks, C; Gelernter, J; Grabe, HJ; Hops, H; Jarvelin, MR; Johannesson, M; Kendler, KS; Lehtimaki, T; Magnusson, PK; Marazita, ML; Marchini, J; Mitchell, BD; Nothen, MM; Penninx, BW; Raitakari, O; Rietschel, M; Rujescu, D; Samani, NJ; Schwartz, AG; Shete, S; Spitz, M; Swan, GE; Volzke, H; Veijola, J; Wei, Q; Amos, C; Cannon, DS; Grucza, R; Hatsukami, D; Heath, A; Johnson, EO; Kaprio, J; Madden, P; Martin, NG; Stevens, VL; Weiss, RB; Kraft, P; Bierut, LJ; Ehringer, MA

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

Genetic Epidemiology, 37 (8), pp. 846-59, 2013.

BibTeX | Tags: smoking, stephens

Butterfield, RJ; Foley, AR; Dastgir, J; andDM Dunn, Asman S; Zou, Y; Hu, Y; Donkervoort, S; Flanigan, KM; Swoboda, KJ; Winder, TL; Weiss, RB; Bonnemann, CG

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. 1558-67, 2013.

BibTeX | Tags: butterfield, collagen

Ashton, NN; Roe, AR; Weiss, RB; III, TE Cheatham; Stewart, RJ

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

Biomacromolecules, 14 (10), pp. 3668-81, 2013.

BibTeX | Tags: ashton, silk

Flanigan, KM; Ceco, E; Lamar, KM; Kaminoh, Y; Dunn, DM; Mendell, JR; King, WM; Pestronk, A; Florence, JM; Mathews, SD; Finkel, RS; Swoboda, KJ; Gappmaier, E; Howard, MT; Day, JW; McDonald, C; McNally, EM; Weiss, EB

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

Annals of Neurology, 73 (4), pp. 481-8, 2013.

BibTeX | Tags: dystrophy, flanigan

Flanigan, KM; Wein, N; Gurvich, OL; Howard, MT; Weiss, RB

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

Neuromuscular Disorders, 23 (2), pp. 192, 2013.

BibTeX | Tags: dystrophy, flanigan

Wagner, LA; Wang, S; Wayner, EA; Christensen, C; Perkins, SJ; Ward, GW; Weiss, RB; Dunn, DM; Redd, MJ; Spangrude, GJ; Gleich, GJ

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

human antibodies, 22 (1-2), pp. 21-9, 2013.

BibTeX | Tags: granulocytes, wagner

2012

Hartz, SM; Short, SE; Saccone, NL; Culverhouse, R; Chen, L; Schwantes-An, TH; Coon, H; Han, Y; Stephens, SH; Sun, J; Chen, X; Ducci, F; Dueker, N; Franceschini, N; Frank, J; Geller, F; Gubjartsson, D; Hansel, NN; Jiang, C; Keskitalo-Vuokko, K; Liu, Z; Lyytikainen, LP; Michel, M; Rawal, R; Rosenberger, A; Scheet, P; Shaffer, JR; Teumer, A; Thompson, JR; Vink, JM; Vogelzangs, N; Wenzlaff, AS; Wheeler, W; Xiao, X; Yang, BZ; Aggen, SH; Balmforth, AJ; Baumeister, SE; Beaty, T; Bennett, S; Bergen, AW; Boyd, HA; Broms, U; Campbell, H; Chatterjee, N; Chen, J; Cheng, YC; Cichon, S; Couper, D; Cucca, F; Dick, DM; Foroud, T; Furberg, H; Giegling, I; Gu, F; Hall, AS; Hallfors, H; Han, S; Hartmann, AM; Hayward, C; Heikkila, K; Hewitt, JK; Hottenga, JJ; Jensen, MK; Jousilahti, P; Kaakinen, M; Kittner, SJ; Konte, B; Korhonen, T; Landi, MT; Laatikainen, T; Leppert, M; Levy, SM; Mathias, RA; McNeil, DW; Medland, SE; Montgomery, GW; Muley, T; Murray, T; Nauck, M; North, K; Pergadia, M; Polasek, O; Ramos, EM; Ripatti, S; Risch, A; Ruczinsk, I; Rudan, I; Salomaa, V; Schlessinger, D; Styrkarsdottir, U; Terracciano, A; Uda, M; Willemsen, G; Wu, X; Abecasis, G; Barnes, K; Bickeboller, H; Boerwinkle, E; Boomsma, DI; Caporaso, N; Duan, J; Edenberg, HJ; Francks, C; Gejman, PV; Gelernter, J; Grabe, HJ; Hops, H; Jarvelin, MR; Viikari, J; Kahonen, M; Kendler, KS; Lehtimaki, T; Levinson, DF; Marazita, ML; Marchini, J; Melbye, M; Mitchell, BD; Murray, JC; Nothen, MM; Penninx, BW; Raitakari, O; Rietschel, M; Rujescu, D; Samani, NJ; Sanders, AR; Schwartz, AG; Shete, S; Shi, J; Spitz, M; Stefansson, K; Swan, GE; Thorgeirsson, T; Volzk, H; Wei, Q; Wichmann, HE; Amos, CI; Breslau, N; Cannon, DS; Ehringer, M; Grucza, R; Hatsukami, D; Heath, A; Johnson, EO; Kaprio, J; Madden, P; Martin, NG; Stevens, VL; 11, JA Stitzel; Weiss, RB; Kraft, P; Bierut, LJ

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

Archives of General Psychiatry, 69 (8), pp. 854-60, 2012.

BibTeX | Tags: hartz, smoking

Chen, LS; Baker, TB; Piper, ME; Breslau, N; Cannon, DS; Doheny, KF; Gogarten, SM; Johnson, EO; Saccone, NL; Wang, JC; Weiss, RB; Goate, AM; Bierut, LJ

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

American Journal of Psychiatry, 169 (7), pp. 735-42, 2012.

BibTeX | Tags: chen, smoking

Mendell, JR; Shilling, C; Leslie, ND; Flanigan, KM; al-Dahhak, R; Gastier-Foster, J; Kneile, K; Dunn, DM; Duval, B; Aoyagi, A; Hamil, C; Mahmoud, M; Roush, K; Bird, L; Rankin, C; Lilly, H; Street, N; Chandrasekar, R; Weiss, RB

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

Annals of Neurology, 71 (3), pp. 304-13, 2012.

BibTeX | Tags: dystrophy, mendell

Kaltenpoth, M; Corneli, Showers P; Dunn, DM; Weiss, RB; Strohm, E; Seger, J

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

PLoS ONE, 7 (3), pp. 32826, 2012.

BibTeX | Tags: hymenoptera, kaltenpoth

2011

Blankenhorn, EP; Butterfield, R; Case, LK; Wall, EH; del Rio, R; Diehl, SA; Krementsov, DN; Saligrama, N; Teuscher, C

Genetics of experimental allergic encephalomyelitis supports the role of T helper cells in multiple sclerosis pathogenesis. Journal Article

Ann Neurol, 70 (6), pp. 887-896, 2011.

BibTeX | Tags: blankenhorn, encephalomyelitis, genetics

Flanigan, KM; Dunn, D; Larsen, CA; Medne, L; Bonnemann, CB; Weiss, RB

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

Muscle & Nerve, 44 (5), pp. 822-5, 2011.

BibTeX | Tags: DMD, flanigan

Flanigan, KM; Dunn, DM; von Niederhausern, S; Soltanzadeh, P; Howard, MT; Sampson, JB; Swoboda, KJ; Bromberg, MB; Mendell, JR; Taylor, LE; Anderson, CB; Pestronk, A; Florence, JM; Connolly, AM; Mathews, KD; Wong, B; Finkel, RS; Bonnemann, CG; Day, JW; McDonald, C; Weiss, RB

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.

BibTeX | Tags: dystrophy, flanigan

Weiss, RB; Atkins, JF

Molecular biology. Translation goes global Journal Article

Science, 334 (6062), pp. 1509-10, 2011.

BibTeX | Tags: translation, weiss

2010

Xing, J; Watkins, WS; Shlien, A; Walker, E; Huff, CD; Witherspoon, DJ; Zhang, Y; Simonson, TS; Weiss, RB; Schiffman, JD; Malkin, D; Woodward, SR; Jorde, LB

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.

BibTeX | Tags: genotyping, xing

Saccone, NL; Culverhouse, RC; Schwantes-An, TH; Cannon, DS; Chen, X; Cichon, S; Giegling, I; Han, A; an, Y; Keskitalo-Vuokko, K; Kong, X; Landi, MT; Ma, JZ; Short, SE; Stephens, SH; Stevens, VL; Sun, L; Wang, Y; Wenzlaff, AS; Aggen, SH; Breslau, N; Broderick, P; Chatterjee, N; Chen, J; Heath, AC; Heliovaara, M; Hoft, NR; Hunter, DJ; Jensen, MK; Martin, NG; Montgomery, GW; Niu, T; Payne, TJ; Peltonen, L; Pergadia, ML; Rice, JP; Sherva, R; Spitz, MR; Sun, J; Wang, JC; Weiss, RB; Wheeler, W; Witt, SH; Yang, BZ; Caporaso, NE; Ehringer, MA; Eisen, T; Gapstur, SM; Gelernter, J; Houlston, R; Kaprio, J; Kendler, KS; Kraft, P; Leppert, MF; Li, MD; Madden, PA; Nothen, MM; Pillai, S; Rietschel, M; Rujescu, D; Schwartz, A; Amos, CI; Bierut, LJ

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

plos genetics, 6 , pp. 8, 2010.

BibTeX | Tags: saccone, smoking

Soltanzadeh, P; Friez, MJ; Dunn, D; von Niederhausern, A; Gurvich, OL; Swoboda, KJ; Sampson, JB; Pestronk, A; Connolly, AM 10; Florence, JM; Finkel, RS; Bonnemann, CG; Medne, L; Mendell, JR; Mathews, KD; Wong, BL; Sussman, MD; Zonana, J; Kovak, K; JR, SM Gospe; Gappmaier, E; Taylor, LE; Howard, MT; Weiss, RB; Flanigan, KM

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

Neuromuscular Disorders, 20 (8), pp. 499-504, 2010.

BibTeX | Tags: DMD, mutations, soltanzadeh

2009

Morita, DC; Donaldson, A; Butterfield, RJ; Benedict, SL; Jr, JF Bale

Methylenetetrahydrofolate reductase gene polymorphism and childhood stroke. Journal Article

Pediatr Neurol, 41 (4), pp. 247-9, 2009.

BibTeX | Tags: morita, polymorphism, stroke

Butterfield, RJ; Ramachandran, D; Hasstedt, SJ; Otterud, BE; Leppert, MF; Swoboda, KJ; Flanigan, KM

A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22. Journal Article

neuromuscul Discord, 19 (4), pp. 279-87, 2009.

BibTeX | Tags: ALC, butterfield

Kaspar, RW; Allen, HD; Ray, WC; Alvarez, CE; Kissel, JT; Pestronk, A; Weiss, RB; Flanigan, KM; Mendell, JR; Montanaro, F

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

cardiovascular genetics, 2 (6), pp. 544-51, 2009.

BibTeX | Tags: deletion, dystrphy, kasper

Foley, AR; Hu, Y; Zou, Y; Columbus, A; Shoffner, J; Dunn, DM; Weiss, RB; Bonnemann, CG

Autosomal recessive inheritance of classic Bethlem myopathy Journal Article

Neuromuscular Disorders, 19 (12), pp. 813-7, 2009.

BibTeX | Tags: foley, myopathy

Flanigan, KM; Dunn, DM; von Niederhausern, A; Soltanzadeh, P; Gappmaier, E; Howard, MT; Sampson, JB; Mendell, JR; Wall, C; King, WM; APestronk, ; Florence, JM; Connolly, AM; Mathews, KD; Stephan, CM; Laubenthal, KS; Wong, BL; Morehart, PJ; Meyer, A; Finkel, RSE; Bonnemann, CG; Medne, L; Day, JW; Dalton, JC; Margolis, MK; Hinton, VJ; Weiss, RB

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

human mutation, 30 (12), pp. 1657-66, 2009.

BibTeX | Tags: DMD, flanigan, techniques

Flanigan, KM; Dunn, DM; von Niederhausern, A; Howard, MT; Mendell, J; Connolly, A; Saunders, C; Modrcin, A; Dasouki, M; Comi, GP; Bo, Del R; Pickart, A; Jacobson, R; Finkel, R; Medne, L; Weiss, RB

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

Neuromuscular Disorders, 19 (11), pp. 743-8, 2009.

BibTeX | Tags: DMD, flanigan

Ma, Y; Miller, JC; Crandall, H; Larsen, ET; Dunn, DM; Weiss, RB; Subramanian, M; Weis, JH; Zachary, JF; Teuscher, C; Weis, JJ

Interval-specific congenic lines reveal quantitative trait Loci with penetrant lyme arthritis phenotypes on chromosomes 5, 11, and 12 Journal Article

infection and immunity, 77 (8), pp. 3302-11, 2009.

BibTeX | Tags: arthritis, ma

Baker, TB; Weiss, RB; Bolt, D; von Niederhausern, A; Fiore, MC; Dunn, DM; Piper, ME; Matsunami, N; Smith, SS; Coon, H; McMahon, WM; Scholand, MB; Singh, N; HoidaL, JR; Kim, SY; Leppert, MF; Cannon, DS

Human neuronal acetylcholine receptor A5-A3-B4 haplotypes are associated with multiple nicotine dependence phenotypes Journal Article

Nicotine & Tobacco Research, 11 (7), pp. 785-96, 2009.

BibTeX | Tags: baker, haplotypes

Xing, J; Watkins, WS; Witherspoon, DJ; Zhang, Y; Guthery, SL; Thara, R; Mowry, BJ; Bulayeva, K; Weiss, RB; Jorde, LB

Fine-scaled human genetic structure revealed by SNP microarrays Journal Article

genome research, 19 (5), pp. 815-25, 2009.

BibTeX | Tags: snp, xing

Hammoud, S; Emery, BR; Dunn, D; Weiss, RB; Carrell, DT

Sequence alterations in the YBX2 gene are associated with male factor infertility Journal Article

fertility and sterility, 91 (4), pp. 1090-5, 2009.

BibTeX | Tags: hammoud, infertility

Gurvich, OL; Maiti, B; Weiss, RB; Aggarwal, G; Howard, MT; Flanigan, KM

DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6 Journal Article

human mutation, 30 (4), pp. 633-40, 2009.

BibTeX | Tags: DMD, gurvich

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