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Did you mean roberts l weiss[Author] (285 results)?
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ; United Dystrophinopathy Project Consortium; Weiss RB. Flanigan KM, et al. Among authors: weiss rb. Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114. Hum Mutat. 2009. PMID: 19937601 Free PMC article.
Initial sequencing and comparative analysis of the mouse genome.
Mouse Genome Sequencing Consortium; Waterston RH, Lindblad-Toh K, Birney E, Rogers J, Abril JF, Agarwal P, Agarwala R, Ainscough R, Alexandersson M, An P, Antonarakis SE, Attwood J, Baertsch R, Bailey J, Barlow K, Beck S, Berry E, Birren B, Bloom T, Bork P, Botcherby M, Bray N, Brent MR, Brown DG, Brown SD, Bult C, Burton J, Butler J, Campbell RD, Carninci P, Cawley S, Chiaromonte F, Chinwalla AT, Church DM, Clamp M, Clee C, Collins FS, Cook LL, Copley RR, Coulson A, Couronne O, Cuff J, Curwen V, Cutts T, Daly M, David R, Davies J, Delehaunty KD, Deri J, Dermitzakis ET, Dewey C, Dickens NJ, Diekhans M, Dodge S, Dubchak I, Dunn DM, Eddy SR, Elnitski L, Emes RD, Eswara P, Eyras E, Felsenfeld A, Fewell GA, Flicek P, Foley K, Frankel WN, Fulton LA, Fulton RS, Furey TS, Gage D, Gibbs RA, Glusman G, Gnerre S, Goldman N, Goodstadt L, Grafham D, Graves TA, Green ED, Gregory S, Guigó R, Guyer M, Hardison RC, Haussler D, Hayashizaki Y, Hillier LW, Hinrichs A, Hlavina W, Holzer T, Hsu F, Hua A, Hubbard T, Hunt A, Jackson I, Jaffe DB, Johnson LS, Jones M, Jones TA, Joy A, Kamal M, Karlsson EK, Karolchik D, Kasprzyk A, Kawai J, Keibler E, Kells C, Kent WJ, Kirby A, Kolbe DL, Korf I, Kucherlapa… See abstract for full author list ➔ Mouse Genome Sequencing Consortium, et al. Among authors: weiss rb. Nature. 2002 Dec 5;420(6915):520-62. doi: 10.1038/nature01262. Nature. 2002. PMID: 12466850
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Waldrop MA, Moore SA, Mathews KD, Darbro BW, Medne L, Finkel R, Connolly AM, Crawford TO, Drachman D, Wein N, Habib AA, Krzesniak-Swinarska MA, Zaidman CM, Collins JJ, Jokela M, Udd B, Day JW, Ortiz-Guerrero G, Statland J, Butterfield RJ, Dunn DM, Weiss RB, Flanigan KM. Waldrop MA, et al. Among authors: weiss rb. Hum Mutat. 2022 Apr;43(4):511-528. doi: 10.1002/humu.24343. Epub 2022 Mar 7. Hum Mutat. 2022. PMID: 35165973 Free PMC article.
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Lemmers RJLF, Butterfield R, van der Vliet PJ, de Bleecker JL, van der Pol L, Dunn DM, Erasmus CE, D'Hooghe M, Verhoeven K, Balog J, Bigot A, van Engelen B, Statland J, Bugiardini E, van der Stoep N, Evangelista T, Marini-Bettolo C, van den Bergh P, Tawil R, Voermans NC, Vissing J, Weiss RB, van der Maarel SM. Lemmers RJLF, et al. Among authors: weiss rb. Brain. 2024 Feb 1;147(2):414-426. doi: 10.1093/brain/awad312. Brain. 2024. PMID: 37703328 Free PMC article.
A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity.
Flanigan KM, Waldrop MA, Martin PT, Alles R, Dunn DM, Alfano LN, Simmons TR, Moore-Clingenpeel M, Burian J, Seok SC, Weiss RB, Vieland VJ. Flanigan KM, et al. Among authors: weiss rb. Eur J Hum Genet. 2023 Jun;31(6):663-673. doi: 10.1038/s41431-023-01329-5. Epub 2023 Mar 20. Eur J Hum Genet. 2023. PMID: 36935420 Free PMC article.
CYP2A6 Longitudinal Effects in Young Smokers.
Cannon DS, Medina TR, Mermelstein RJ, Hedeker D, Bakian AV, Coon H, Cook EH, Hamil C, Weiss RB. Cannon DS, et al. Among authors: weiss rb. Nicotine Tob Res. 2016 Feb;18(2):196-203. doi: 10.1093/ntr/ntv049. Epub 2015 Mar 5. Nicotine Tob Res. 2016. PMID: 25744963 Free PMC article.
Low-level dystrophin expression attenuating the dystrophinopathy phenotype.
Waldrop MA, Gumienny F, El Husayni S, Frank DE, Weiss RB, Flanigan KM. Waldrop MA, et al. Among authors: weiss rb. Neuromuscul Disord. 2018 Feb;28(2):116-121. doi: 10.1016/j.nmd.2017.11.007. Epub 2017 Nov 23. Neuromuscul Disord. 2018. PMID: 29305136 Free PMC article.
Complex signatures of natural selection at GYPA.
Bigham AW, Magnaye K, Dunn DM, Weiss RB, Bamshad M. Bigham AW, et al. Among authors: weiss rb. Hum Genet. 2018 Feb;137(2):151-160. doi: 10.1007/s00439-018-1866-3. Epub 2018 Jan 23. Hum Genet. 2018. PMID: 29362874 Free PMC article.
92 results