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Robert B. Weiss, PhD

Languages spoken: English

Academic Information

Departments Primary - Human Genetics

Education History

Undergraduate Massachusetts Institute of Technology
 BS
Doctoral Training University of Washington
 PhD

Selected Publications

Journal Article

  1. Coon H, Singh N, Dunn D, Eckfeldt JH, Province MA, Hopkins PN, Weiss R, Hunt SC, Leppert MF, NHLBI Family Heart Study (2004). TXNIP gene not associated with familial combined hyperlipidemia in the NHLBI Family Heart Study. Atherosclerosis, 174(2), 357-62. (Read full article)
  2. Dai L, Weiss RB, Dunn DM, Ramirez A, Paul S, Korenberg J (2021). Core Transcriptional Networks in Williams Syndrome: IGF1-PI3K-AKT-mTOR, MAPK and Actin Signaling at the Synapse Echo Autism. Human molecular genetics, 30, 411-429. (Read full article)
  3. Johnson NE, Butterfield RJ, Mayne K, Newcomb T, Imburgia C, Dunn D, Duval B, Feldkamp ML, Weiss R (2021). Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program. Neurology, 96(7), e1045-e1053. (Read full article)
  4. Prahalad S, Bohnsack JF, Jorde LB, Whiting A, Clifford B, Dunn D, Weiss R, Moroldo M, Thompson SD, Glass DN, Bamshad M (2006). Association of two functional polymorphisms in the CCR5 gene with juvenile rheumatoid arthritis. Genes and immunity, 7(6), 468-75. (Read full article)
  5. Coon H, Dunn D, Lainhart J, Miller J, Hamil C, Battaglia A, Tancredi R, Leppert MF, Weiss R, McMahon (2005). Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2). American journal of medical genetics. Part B, Neuropsychiatric genetics, 135B(1), 42-6. (Read full article)
  6. Barthélémy I, Calmels N, Weiss RB, Tiret L, Vulin A, Wein N, Peccate C, Drougard C, Beroud C, Deburgrave N, Thibaud JL, Escriou C, Punzón I, Garcia L, Kaplan JC, Flanigan KM, Leturcq F, Blot (2020). X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation. Skeletal muscle, 10(1), 23. (Read full article)
  7. Butterfield RJ, Imburgia C, Mayne K, Newcomb T, Dunn DM, Duval B, Feldkamp ML, Johnson NE, Weiss R (2021). High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis. Molecular genetics & genomic medicine, 9(4), e1619. (Read full article)
  8. Waldrop MA, Yaou RB, Lucas KK, Martin AS, O'Rourke E, FILNEMUS., Ferlini A, Muntoni F, Leturcq F, Tuffery-Giraud S, Weiss RB, Flanigan K (2020). Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review. Journal of neuromuscular diseases, 7(3), 217-229. (Read full article)
  9. Lee AJ, Jones KA, Butterfield RJ, Cox MO, Konersman CG, Grosmann C, Abdenur JE, Boyer M, Beson B, Wang C, Dowling JJ, Gibbons MA, Ballard A, Janas JS, Leshner RT, Donkervoort S, Bönnemann CG, Malicki DM, Weiss RB, Moore SA, Mathews K (2019). Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G. Neurology. Genetics, 5(2), e315. (Read full article)
  10. Zambon AA, Waldrop MA, Alles R, Weiss RB, Conroy S, Moore-Clingenpeel M, Previtali S, Flanigan KM, Italian DMD Network and the United Dystrophinopathy Project (2022). Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications. Neurology, 98(7), e730-e738. (Read full article)
  11. 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 K (2022). Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy. Human mutation, 43, 511-528. (Read full article)
  12. 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, Kucherlapati RS, Kulbokas EJ, Kulp D, Landers T, Leger JP, Leonard S, Letunic I, Levine R, Li J, Li M, Lloyd C, Lucas S, Ma B, Maglott DR, Mardis ER, Matthews L, Mauceli E, Mayer JH, McCarthy M, McCombie WR, McLaren S, McLay K, McPherson JD, Meldrim J, Meredith B, Mesirov JP, Miller W, Miner TL, Mongin E, Montgomery KT, Morgan M, Mott R, Mullikin JC, Muzny DM, Nash WE, Nelson JO, Nhan MN, Nicol R, Ning Z, Nusbaum C, O'Connor MJ, Okazaki Y, Oliver K, Overton-Larty E, Pachter L, Parra G, Pepin KH, Peterson J, Pevzner P, Plumb R, Pohl CS, Poliakov A, Ponce TC, Ponting CP, Potter S, Quail M, Reymond A, Roe BA, Roskin KM, Rubin EM, Rust AG, Santos R, Sapojnikov V, Schultz B, Schultz J, Schwartz MS, Schwartz S, Scott C, Seaman S, Searle S, Sharpe T, Sheridan A, Shownkeen R, Sims S, Singer JB, Slater G, Smit A, Smith DR, Spencer B, Stabenau A, Stange-Thomann N, Sugnet C, Suyama M, Tesler G, Thompson J, Torrents D, Trevaskis E, Tromp J, Ucla C, Ureta-Vidal A, Vinson JP, Von Niederhausern AC, Wade CM, Wall M, Weber RJ, Weiss RB, Wendl MC, West AP, Wetterstrand K, Wheeler R, Whelan S, Wierzbowski J, Willey D, Williams S, Wilson RK, Winter E, Worley KC, Wyman D, Yang S, Yang SP, Zdobnov EM, Zody MC, Lander E (2002). Initial sequencing and comparative analysis of the mouse genome. Nature, 420(6915), 520-62. (Read full article)
  13. Wein N, Vetter TA, Vulin A, Simmons TR, Frair EC, Bradley AJ, Gushchina LV, Almeida CF, Huang N, Lesman D, Rajakumar D, Weiss RB, Flanigan K (2022). Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse. Molecular therapy. Methods & clinical development, 26, 279-293. (Read full article)
  14. Butterfield RJ, Dunn DM, Duval B, Moldt S, Weiss R (2023). Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing. (Read full article)
  15. Flanigan KM, Waldrop MA, Martin PT, Alles R, Dunn DM, Alfano LN, Simmons TR, Moore-Clingenpeel M, Burian J, Seok SC, Weiss RB, Vieland V (2023). A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity. European journal of human genetics, (Read full article)
  16. 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 S (2024). Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy. Brain, 147(2), 414-426. (Read full article)
  17. Butterfield RJ, Dunn DM, Duval B, Moldt S, Weiss R (2023). Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing. Genome research, 33(9), 1439-1454. (Read full article)
  18. Almeida CF, Robriquet F, Vetter TA, Huang N, Neinast R, Hernandez-Rosario L, Rajakumar D, Arnold WD, McBride KL, Flanigan KM, Weiss RB, Wein (2023). Promising AAV.U7snRNAs vectors targeting DMPK improve DM1 hallmarks in patient-derived cell lines. Frontiers in cell and developmental biology, 11, 1181040. (Read full article)

Other

  1. Wein N, Dunn DM, Waldrop MA, Gushchina LV, Frair EC, Weiss RB, Flanigan K (2021). Absence of Significant Off-Target Splicing Variation with a U7snRNA Vector Targeting DMD Exon 2 Duplications. Human gene therapy, 32(21-22), 1346-1359. (Read full article)
  2. 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 K (2015). Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. Nature medicine, 21(4), 414. (Read full article)

Video/Film/CD/Web/Podcast

  1. Almeida CF, Frair EC, Huang N, Neinast R, McBride KL, Weiss RB, Flanigan KM, Wein (2021). Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders. Journal of visualized experiments, (170), (Read full article)