Journal Articles

Russell Butterfield, MD, PhD


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 (2015). Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. Hum Mutat, 36(1), 48-56.


Butterfield RJ, Stevenson TJ, Xing L, Newcomb TM, Nelson B, Zeng W, Li X, Lu HM, Lu H, Farwell Gonzalez KD, Wei JP, Chao EC, Prior TW, Snyder PJ, Bonkowsky JL, Swoboda KJ (2014). Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis. Neurology, 82(15), 1322-30.


Hu Y, Donkervoot S, T. Stojkovic, 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 (2014). Mosaicism for dominant COLVI mutations as a cause for intra-familial phenotypic variability [Abstract]. Neuromuscular Disorders, 24(9-10), 881.


Hayes HA, Dixon M, Powell-Versteeg A, Snyder R, Butterfield RJ, Johnson NE (2014). Assessment of six-minute walk test in children with congenital myotonic dystrophy: preliminary results [Abstract]. Muscle & Nerve, 50(S1), S5.


Butterfield RJ, Bonnemann C, and Weiss RB (2014). Transcriptome profiling identifies key differences between patients with recessive or dominant negative mutations in collagen VI related myopathies [Abstract]. Muscle & Nerve, 50(S1), S4.


Van Dorn C, Puchalski M, Weng H, Butterfield RJ, Bleyl S, Williams R (2014). Does genotype predict age of onset of cardiomyopathy in patients with Duchenne muscular dystrophy? [Abstract]. J Am Coll Cardiol, 62(12_S).


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


Blankenhorn EP, Butterfield R, Case LK, Wall EH, del Rio R, Diehl SA, Krementsov DN, Saligrama N, Teuscher C (2011). Genetics of experimental allergic encephalomyelitis supports the role of T helper cells in multiple sclerosis pathogenesis. Ann Neurol, 70(6), 887-896.


Morita DC, Donaldson A, Butterfield RJ, Benedict SL, Bale JF Jr (2009). Methylenetetrahydrofolate reductase gene polymorphism and childhood stroke. Pediatr Neurol, 41(4), 247-9.


Butterfield RJ, Ramachandran D, Hasstedt SJ, Otterud BE, Leppert MF, Swoboda KJ, Flanigan KM (2009). A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22. Neuromuscul Disord, 19(4), 279-87.


Teuscher C, Bunn JY, Fillmore PD, Butterfield RJ, Zachary JF, Blankenhorn EP (2004). Gender, age, and season at immunization uniquely influence the genetic control of susceptibility to histopathological lesions and clinical signs of experimental allergic encephalomyelitis: implications for the genetics of multiple sclerosis. Am J Pathol, 165(5), 1593-602.


Butterfield RJ, Roper RJ, Rhein DM, Melvold RW, Haynes L, Ma RZ, Doerge RW, Teuscher C (2003). Sex-specific quantitative trait loci govern susceptibility to Theiler’s murine encephalomyelitis virus-induced demyelination. Genetics, 163(3), 1041-6.


Roper RJ, Ma RZ, Biggins JE, Butterfield RJ, Michael SD, Tung KS, Doerge RW, Teuscher C (2002). Interacting quantitative trait loci control loss of peripheral tolerance and susceptibility to autoimmune ovarian dysgenesis after day 3 thymectomy in mice. J Immunol, 169(3), 1640-6.


Roper RJ, Weis JJ, McCracken BA, Green CB, Ma Y, Weber KS, Fairbairn D, Butterfield RJ, Potter MR, Zachary JF, Doerge RW, Teuscher C (2001). Genetic control of susceptibility to experimental Lyme arthritis is polygenic and exhibits consistent linkage to multiple loci on chromosome 5 in four independent mouse crosses. Genes Immun, 2(7), 388-97.


Butterfield RJ, Blankenhorn EP, Roper RJ, Zachary JF, Doerge RW, Teuscher C (2000). Identification of genetic loci controlling the characteristics and severity of brain and spinal cord lesions in experimental allergic encephalomyelitis. Am J Pathol, 157(2), 637-45.


Blankenhorn EP, Butterfield RJ, Rigby R, Cort L, Giambrone D, McDermott P, McEntee K, Solowski N, Meeker ND, Zachary JF, Doerge RW, Teuscher C (2000). Genetic analysis of the influence of pertussis toxin on experimental allergic encephalomyelitis susceptibility: an environmental agent can override genetic checkpoints. J Immunol, 164(6), 3420-5.


Teuscher C, Butterfield RJ, Ma RZ, Zachary JF, Doerge RW, Blankenhorn EP (1999). Sequence polymorphisms in the chemokines Scya1 (TCA-3), Scya2 (monocyte chemoattractant protein (MCP)-1), and Scya12 (MCP-5) are candidates for eae7, a locus controlling susceptibility to monophasic remitting/nonrelapsing experimental allergic encephalomyelitis. J Immunol, 163(4), 2262-6.


Butterfield RJ, Blankenhorn EP, Roper RJ, Zachary JF, Doerge RW, Sudweeks J, Rose J, Teuscher C (1999). Genetic analysis of disease subtypes and sexual dimorphisms in mouse experimental allergic encephalomyelitis (EAE): relapsing/remitting and monophasic remitting/nonrelapsing EAE are immunogenetically distinct. J Immunol, 162(5), 3096-102.


Butterfield RJ, Sudweeks JD, Blankenhorn EP, Korngold R, Marini JC, Todd JA, Roper RJ, Teuscher C (1998). New genetic loci that control susceptibility and symptoms of experimental allergic encephalomyelitis in inbred mice. J Immunol, 161(4), 1860-7.

Heather Hayes, PT, DPT, NCS, PhD


Hayes HA, Hunsaker N, Boyd LA, Dibble LE (In Press). Spatial, temporal and combined error in individuals with Parkinson disease during a standing sequence task. Submitted to Journal of Motor Behavior.


Johnson NE, Butterfield R, Berggren K, et al (2016). Disease burden and functional outcomes in congenital myotonic dystrophy: A cross-sectional study. Neurology. 87(2), 160-167.


Hayes HA, Hunsaker N, Schaefer SY, et al (2015). Does Dopamine Replacement Medication Affect Postural Sequence Learning in Parkinson Disease? Motor control. Mar 27.


Hayes HA, Hunsaker N, Dibble LE (2015). Implicit motor sequence learning in individuals with Parkinson disease: A meta-analysis. Journal of Parkinson’s Disease, 5, 549-560.


Howell AM, Kobayashi T, Hayes HA, Foreman KB, Bamberg SJ (2013). Kinetic Gait Analysis Using a Low-Cost Insole. IEEE transactions on bio-medical engineering. 60(12), 3284-3290.


Hayes HA, Gappmaier E, LaStayo PC (2011). Effects of high-intensity resistance training on strength, mobility, balance, and fatigue in individuals with multiple sclerosis: a randomized controlled trial. J Neurol Phys Ther, 35(1), 2-10.


Cormack J, Gobert D, Hardage J, Hayes HA, Malonzo C, Parlman K, Pinto-Zipp G, Wallace, B (2010). Perspective From the Practice Committee: Is Autonomous Practice in Neurologic Physical Therapy Defined Differently Based on the Type of Practice Setting? JNPT 34, 1-2.


Hayes HA, Gappmaier E, Dibble LE, LaStayo PC (2008). Safety and feasibility of a high intensity resistance training program for individuals with Multiple Sclerosis. Mult Scler 14(1), S142.


Hayes HA, Gappmaier E, Dibble LE, LaStayo PC (2008). Effects of a high intensity resistance training program on strength, mobility and fatigue in moderately severe individuals with Multiple Sclerosis. Mult Scler 14(1), S142.

Nicholas Johnson, MD

Johnson NE, Abbott D, Cannon-Albright LA (In Press). Relative Risks for Comorbidities Associated with Myotonic Dystrophy: A Population-Based Analysis. Muscle Nerve, 52(4), 659-61.


Heatwole CR, Johnson NE, Bode R, Dekdebrun J, Dilek N, Hilbert JE, Luebbe E, Martens WB, McDermott MP, Quinn C, Rothrock N, Thornton CA, Vickery BA, Victorson D, Moxley RT (In Press). PRISM-2: Patient reported impact of symptoms in Myotonic dystrophy type-2. Neurology.


Johnson NE, Ekstrom AB, Campbell C, Hung M, Adams HR, Chen W, Luebbe E, Hilbert J, Moxley III RT, Heatwole, CR (In Press).Parent reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy. Dev Med Child Neurol.


Johnson NE, McCourqoudale D, Pucillo EM (2016). Management of Charcot-Marie-Tooth disease: Improving long-term care with a multidisciplinary approach. J Multidiscip Healthc, 2016(9), 7-19.


Johnson NE, Kaloides A, Jones E (2016). Neurology advocacy 2.0: After sustainable growth repeal. [Review]. JAMA Neurol, 73(2), 151-2.


Heatwole CR, Bode R, Johnson NE, Dekdebrun J, Dilek N, Eichinger K, Hilbert JE, Logigian E, Luebbe E, Martens W, Mcdermott MP, Pandya S, Puwanant A, Rothrock N, Thornton C, Vickery BG, Victorson D, Moxley RT 3rd (2015). Myotonic dystrophy health index: Correlations with clinical tests and patient function. Muscle Nerve, 53(2), 183-90.


Johnson NE, Hung M, Nasser E, Hagerman KA, Chen W, Ciafaloni E, Heatwole CR (2015). The impact of pregnancy on myotonic dystrophy: A registry-based study. J Neuromuscul Dis, 2(4), 447-52.


Johnson NE, Arnold WD, Hebert D, Gwathmey K, Dimachkie MM, Barohn RJ, McVey AL, Pasnoor M, Amato AA, McDermott MP, Kissel J, Heatwole CR (2015). Disease Course and Therapeutic Approach in Dermatomyositis: A Four-Center Retrospective Study of 100 Patients. Neuromuscul Disord, 25(8), 625-31.


Johnson NE, Sowden J, Dilek N, Eichinger K, Burns J, McDermott MP, Shy ME, Herrmann DN (2015). Prospective Study of Muscle Cramps in Charcot-Marie-Tooth Disease. Muscle Nerve, 51(4), 485-8.


Heatwole C, Bode R, Johnson NE, Dekdebrun J, Dilek N, Heatwole M, Hilbert JE, Luebbe E, Rothrock N, Thornton C, Vickery BG, Victorson D, Moxley III R (2014). The Myotonic Dystrophy Health Index: Initial evaluation of a new outcome measure. Muscle Nerve, 49(6), 906-14.


Johnson NE, Heatwole CR, Dilek N, Sowden J, Kirk CA, Shereff D, Shy ME, Herrmann DN (2014). Quality of life in Charcot Marie Tooth Disease: The patient’s perspective. Neuromuscul Disord, 24(11), 1018-23.


Johnson NE, Utz M, Patrick E, Rheinwald N, Downs M, Dilek N, Dogra V, Logingian EL (2014). Visualization of the Diaphragm Muscle with Ultrasound Improves the Diagnostic Accuracy of Phrenic Nerve Conduction Studies. Muscle Nerve, 49(5), 669-75.


Johnson NE, Luebbe E, Eastwood E, Chin N, Moxley RT, Heatwole CR (2014). The Impact of Congenital and Childhood Myotonic Dystrophy on Quality of Life: A Qualitative Study of Associated Symptoms. J Child Neurol, 29(7), 983-6.


Hilbert JE, Johnson NE, Moxley RT 3rd (2013). New insights about the incidence, multisystem manifestations, and care of patients with congenital myotonic dystrophy. J Pediatr, 163(1), 12-4.


Hilbert, J, Johnson NE, Moxley, RT (2013). Every breath they take: Evaluating the incidence of congenital myotonic dystrophy, assessing their respiratory symptoms and other multisystem manifestations, and preparing for their future care. [Review]. J Pediatr, 163(1), 12-4.


Johnson NE, Heatwole CR, Ferguson M, Sowden JE, Jeanat S, Herrmann DN (2013). Patient Identification of the Symptomatic Impact of Charcot Marie Tooth Disease Type 1A. J Clin Neuromuscular Dis, 15(1), 19-23.


Johnson NE, Heatwole CR (2013). Teaching Video NeuroImages: Trapezius Myotonia Percussion Sign in Myotonic Dystrophy Type-2. Neurology, 80(24), e251.

Don McCorquodale, MD, PhD

McCorquodale D, Pucillo EM, Johnson NE (2016). Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach. J Multidiscip Healthc. 2016(9), 7-19.


McCorquodale III DS, , Montenegro G, Peguero A, Carlson N, Speziani F, Price J, Taylor SW, Melanson M, Vance JM, Zuchner S (2011). Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2. J Neurol .


McCorquodale III DS, Zuchner S, Overview of genetic causes of spasticity in adults and children.  (2011). Spasticity: Diagnosis and Management. New York: Demos Medical Pub.


McCorquodale III DS, Ozomaro U, Huang J, Montenegro G, Kushman A, Citrigno L, Price J, Speziani F, Pericak-Vance MA, Zuchner S (2010). Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. Clin Genet.


Webster JA, Gibbs JR, Clarke J, Ray M, Zhang W, Holmans P, Rohrer K, Zhao A, Marlowe L, Kaleem M, McCorquodale DS 3rd, Cuello C, Leung D, Bryden L, Nath P, Zismann VL, Joshipura K, Huentelman MJ, Hu-Lince D, Coon KD, Craig DW, Pearson JV; NACC-Neuropathology Group, Heward CB, Reiman EM, Stephan D, Hardy J, Myers AJ (2009). Genetic control of human brain transcript expression in Alzheimer disease. Am J Hum Genet 84(4), 445-58.


McCorquodale D, Myers AJ (2008). Biomarkers in the diagnosis and treatment of Alzheimer’s disease: Potential and pitfalls. Biomark Med. 2(3), 209-14.


Papapetropoulos S, Shehadeh L, McCorquodale D (2007). Optimizing human post-mortem brain tissue gene expression profiling in Parkinson’s disease and other neurodegenerative disorders: From target “fishing” to translational breakthroughs. J Neurosci Res 85, 3013-24.


Papapetropoulos S, Farrer MJ, Stone JT, Milkovic NM, Ross OA, Calvo L, McCorquodale D, Mash DC (2007). Phenotypic associations of tau and ApoE in Parkinson’s disease. Neurosci Lett 414, 141-4.


Papapetropoulos S, McCorquodale DS, Gonzalez J, Jean-Gilles L, Mash DC (2006). Cortical and amygdalar Lewy body burden in Parkinson’s disease patients with visual hallucinations. Parkinsonism Relat Disord 12, 253-6.


Papapetropoulos S, Ffrench-Mullen J, McCorquodale D, Qin Y, Pablo J, Mash D C (2006). Multiregional gene expression profiling identifies MRPS6 as a possible candidate gene for Parkinson’s disease. Gene Expr 13, 205-15.


Papapetropoulos S, Singer C, McCorquodale D, Gonzalez J, Mash DC (2005). Cause, seasonality of death and co-morbidities in progressive supranuclear palsy (PSP). Parkinsonism Relat Disord 11, 459-63.

Louis Viollet, MD, PhD

Catteruccia M, Vuillerot C, Vaugier I, Leclair D, Azzi V, Viollet L, Estournet B, Bertini E and Quijano-Roy S (2015). Orthopedic management of scoliosis by Garches Brace and Spinal fusion in SMA type 2 children. Journal of Neuromuscular Diseases, 2(4), 453-462.


Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, SweneyM, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR, Ptáček LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ (2015). Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 subjects from the US AHCF registry. Plos One, May 21, 2015.


Viollet L, Melki J (2013). Spinal muscular atrophies. In: O. Dulac, M. Lassonde, H. Sarnat. Pediatric Neurology, Handb Clin Neurol, 113, 1395-411.


Heinzen EL, Swoboda KJ, 32-Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l’Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium, Fiori S, Abiusi E, Di Pietro L, Sweney MT,Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch

BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB (2012). De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet, 44(9), 1030-4.


Blumen SC, Astord S, Robin V, Vignaud L, Toumi N, Cieslik A, Achiron A, Carasso RL, Gurevich M, Braverman I, Blumen N, Munich A, Barkats M, Viollet L (2012). A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. Ann Neurol, 71(4), 509-19.


Michot C, Hubert L, Romero NB, Gouda A, Mamoune A, Mathew S, Kirk E, Viollet L, Rahman S, Bekri S, Peters H, McGill J, Glamuzina E, Farrar M, von der Hagen M, Alexander IE, Kirmse B, Barth M, Laforet P, Benlian P, Munnich A, Jeanpierre M, Elpeleg O, Pines O, Delahodde A, de Keyzer Y, de Lonlay P (2012). Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. J Inherit Metab Dis, 35(6), 1119-28.


Quijano-Roy S, Avila-Smirnow D, Carlier RY and the WBMRI Muscle study group : Allamand V, Barois A, Biancalana V, Bonne G, Carlier P, Colas F, Dubourg O, Essid N, Estournet B, Ferreiro A, P Guicheney, Hamida M, Ioos C, Jarraya M, Le Breton C, Leturcq F, Monnier N, Monpoint D, Orlikowski D, Pellegrini N, Richard P, Romero N, Viollet L, Wehbi S (2012). Whole Body muscle MRI protocol: pattern recognition in early onset NM disorders. Neuromuscul Disord, 22(suppl2), S68-S84.


Abbara C, Estournet B, Lacomblez L, Lelièvre B, Ouslimani A, Lehmann B, Viollet L, Barois A, Diquet B (2011). Riluzole Pharmacokinetics in Young Patients with Spinal Muscular Atrophy Br. J Clin Pharmacol, 71(3), 403-10.


Briñas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacène E, Makri S, Ferreiro A, Maugenre S, Topaloglu H, Haliloglu G, Pénisson-Besnier I, Jeannet PY, Merlini L, Navarro C, Toutain A, Chaigne D, Desguerre I, de Die-Smulders C, Dunand M, Echenne B, Eymard B, Kuntzer T, Maincent K, Mayer M, Plessis G, Rivier F, Roelens F, Stojkovic T, Taratuto AL, Lubieniecki F, Monges S, Tranchant C, Viollet L, Romero NB, Estournet B, Guicheney P,

Allamand V (2010). Early onset collagen VI myopathies: Genetic and clinical correlations. Ann Neurol, 68(4):511-20.


Ben Ammar A, Petit F, Alexandri N, Gaudon K, Bauché S, Rouche A, Gras D, Fournier E, Koenig J, Stojkovic T, Lacour A, Petiot P, Zagnoli F, Viollet L, Pellegrini N, Orlikowski D, Lazaro L, Ferrer X, Stoltenburg G, Paturneau-Jouas M, Hentati F, Fardeau M, Sternberg D, Hantaï D, Richard P, Eymard B (2010). Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. J Neurol, 257(5), 754-66.


Prando C, Boisson-Dupuis S, Grant AV, Kong XF, Bustamante J, Feinberg J, Chapgier A, Rose Y, Jannière L, Rizzardi E, Zhang Q, Shanahan CM, Viollet L, Lyonnet S, Abel L, Ruga EM, Casanova JL (2010). Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency Am J Med Genet A, 152A(3), 622-9.


Renvoisé B, Colasse S, Burlet P, Viollet L, Meier UT, Lefebvre S (2009). The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy. Hum Mol Genet. 18(7), 1181-9.


Vezain M, Saugier-Veber P, Melki J, Toutain A, Bieth E, Husson M, Pedespan JM, Viollet L, Penisson-Besnier I, Fehrenbach S, Bou J, Frebourg T, Tosi M (2007). A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy. Eur J Hum Genet, 15(10), 1054-62.


Yanagisawa A, Bouchet C, Van den Bergh PY, Cuisset JM, Viollet L, Leturcq F, Romero NB, Quijano-Roy S, Fardeau M, Seta N, Guicheney P (2007). New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. 69(12), 1254-60.


Maystadt I, Rezsohazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C (2007). The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Am J Hum Genet. 81(1), 67-76.


Fischer D, Herasse M, Ferreiro A, Barragan-Campos HM, Chiras J, Viollet L, Maugenre S, Leroy JP, Monnier N, Lunardi J, Guicheney P, Fardeau M, Romero NB (2006). Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene. Neurology. 67(12), 2217-20.


Maystadt I, Zarhrate M, Leclair-Richard D, Estournet B, Barois A, Roubergue A, Renault F, Routon MC, Durand MC, Lefebvre S, Munnich A, Verellen-Dumoulin C and Viollet L (2006). A gene for an autosomal Recessive Lower Motor Neuron Disease with childhood onset maps to 1p36. Neurology. 67(1), 120-4.


Renvoise B, Khoobarry K, Gendron MC, Cibert C, Viollet L, Lefebvre S (2006). Distinct domains of the spinal muscular atrophy protein SMN are required for targeting to Cajal bodies in mammalian cells. J Cell Sci, 119(Pt 4), 680-92.


Quijano-Roy S, Marti-Carrera I, Makri S, Mayer M, Maugenre S, Richard P, Berard C, Viollet L, Leheup B, Guicheney P, Pinard JM, Estournet B, Y Carlier R (2005). Brain MRI abnormalities in muscular dystrophy due to FKRP mutations. Brain Dev, Dec 17.


Romero NB, Herasse M, Monnier N, Leroy JP, Fischer D, Ferreiro A, Viollet L, Eymard B, Laforet P, Monges S, Lubieniecki F, Taratuto AL, Guicheney P, Lunardi J, Fardeau M (2005). Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus. Acta Myol. 24(2), 70-3.


Maystadt I, Zarhrate M, Verellen-Dumoulin C, Collignon P, Boespflug-Tanguy O, Landrieu P, Sukno S, Melki J, Munnich A and Viollet L (2004). Allelic heterogeneity of SMARD1 at the IGHMBP2 locus. Hum Mutat, 23(5), 525-6.


Viollet L, Zahrate M, Maystadt I, Estournet-Mathiaud B, Barois A, Desguerre I, Mayer M, Chabrol B, Leheup BP, Cusin V, Billette de Villemeur T, Missotte I, Bonnot D, Saugier P, Touzery de Villepin A, Delaubier A, Kaplan J, Jeanpierre M, Feingold J and Munnich A (2004). Refined genetic mapping of Chronic Distal Spinal Muscular Atrophy and evidence of linkage disequilibrium in European families. Eur J Hum Genet. 12(6), 483-8.


Cheliout-Heraut F, Barois A, Urtizberea A, Viollet L, Estournet-Mathiaud B (2003). Evoked potentials in spinal muscular atrophy. J Child Neurol. 18(6), 383-90.


Romero NB, Monnier N, Viollet L, Cortey A, Chevallay M, Leroy JP, Lunardi J, Fardeau M (2003). Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain, 2003 Aug 22.


Viollet L, Barois A, Rebeiz J, Rifai Z, Burlet P, Vial E, Estournet B, Kleinknecht B, Pearn J, Adams R, Cros D, Urtizberea JA, Bushby K, Munnich A and Lefebvre S (2002). Mapping of Autosomal Recessive Chronic Distal Spinal Muscular atrophy to 11q13. Ann Neurol, 51(5), 585-92.


Lefebvre S, Burlet P, Viollet L, Bertrandy S, Huber C, Belser C, Munnich A (2002). A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy. Hum Mol Genet, 11(9), 1017-27.


Viollet L et Commare Nordmann MC (2002). La prise en charge médicale des personnes handicapées atteintes de maladies rares. Réadaptation, 491, 26-27.


Megarbane A, Delague V, Ruchoux MM, Rizkallah E, Maurage CA, Viollet L, Rouaix-Emery N, Urtizberea A (2001). New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. Am J Med genet, 101, 135-41.


Ravard-Goulvestre C, Boucly C, Mathieu B, Van Amerongen G, Viollet L, Estournet B, Barois A and De Mazancourt P (1999). Allele specific amplification for the diagnosis of autosomal recessive spinal muscular atrophy. Clin Chem Lab, 37, 133-135


Viollet L, Commare-Nordmann MC, Langlais J, Polak M, Donadieu J (1997). Maladie de Basedow chez un adolescent porteur d’une histiocytose X. Arch Fr Ped, 4, 656-658.


Viollet L, Bertrandy S, Brunialty AL, Lefebvre S, Burlet P, Clermont O, Cruaud C, Guenet JL, Munnich A, Melki J (1997). cDNA isolation, expression and chromosomal localization of the mouse survival motor neuron gene (Smn). Genomics, 39, 5-9.


Lefebvre S, Bürglen L, Viollet L, Munnich A, Melki J (1997). Les amyotrophies spinales proximales : un exemple d’instabilité génomique responsable d’une dégénerescence des motoneurones spinaux. Progrès en Pédiatrie 1.Génétique. Doin, 1997, 54-60.


Bertrandy S, lefebvre S, Burlet P, Bürglen L, Clermont O, Viollet L, Munnich A et Melki J (1997). Approche moléculaire d’une dégénerescence du motoneurone spinal: les maladies de Werdnig Hoffmann et de Kugelberg Welander. Annales de l’Institut Pasteur, 7(3), 187-192.

Bürglen L, Amiel J, Viollet L, Lefebvre S, Burlet P, Clermont O, Raclin V, Landrieu P, Verloes A, Munnich A and Melki J (1996). Survival Motor Neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. J Clin Invest, 98, 1130-1132.


Bürglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, Munnich A and Melki J (1996). Structure and organization of the human survival motor neuron gene. Genomics, 32, 479-482.


Burlet P, Bürglen L, Clermont O, Lefebvre S, Viollet L, Munnich A and Melki J (1996). Large scale deletions of the 5q13 region are specific to Werdnig Hoffmann disease. J Med Genet, 33, 281-283.


Bürglen L, Lefebvre S, Reboullet S, Clermont O, Burlet P, Viollet L, Bénichou B, Cruaud C, Millaseau P, Zeviani M, Le Paslier D, Frézal J, Cohen D, Weissenbach J, Munnich A, Milky J (1995). Identification et caractérisation d’un gène déterminant dans les amyotrophies spinales. Médecine/Sciences, 11, 149-151.


Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Milasseau P, Zeviani M, Le Paslier D, Frézal J, Cohen D, Weissenbach J, Munnich A and Melki J (1995). Identification and characterization of a spinal muscular atrophy-determining gene. Cell, 80, 155-165.


Viollet L, Lachassine E, Lejeune F, Durquet-Perelman C, Nathanson M, Vinas A, Gaudelus J, Perelman R (1991). Cholestase néonatale: révélation d’une maladie de Niemann-Pick type C. La Médecine infantile, 5, 1-5. 

Robert Weiss, PhD

Cannon DS, Mermelstein RJ, Medina TR, Pugach O, Hedeker D, Weiss RB (2016). CYP2A6 Effects on Subjective Reactions to Initial Smoking Attempt. Nicotine Tob Res, 18(5), 637-41.


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


Clayton AL, Jackson DG, Weiss RB, Dale C (2016). Adaptation by Deletogenic Replication Slippage in a Nascent Symbiont. Mol Biol Evol, 2016(4).


Cannon DS, Medina TR, Mermelstein RJ, Hedeker D, Bakian AV, Coon H, Cook EH, Hamil C, Weiss RB (2016). CYP2A6 Longitudinal Effects in Young Smokers. Nicotine Tob Res, 18(2), 196-203.


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 (2015). Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. Nat Med, 21(5), 537.


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 (2015). Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. Nat Med, 21(4), 414.


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, Le Rumeur E, Weiss RB, Flanigan KM, United Dystrophinopathy Project (2015). Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.Ann Neurol, 77(4), 668-74.


Wang CS, Ashton NN, Weiss RB, Stewart RJ (2014). Peroxinectin catalyzed dityrosine crosslinking in the adhesive underwater silk of a casemaker caddisfly larvae, Hysperophylax occidentalis. Insect Biochemistry and Molecular Biology, 54, 69-79.


Kohl KD, Weiss RB, Cox J, Dale C, Dearing MD (2014). Gut microbes of mammalian herbivores facilitate intake of plant toxins. Ecology Letters (electronic), 17(10), 1238-46.


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 (2014). Mosaicism for Dominant Collagen VI Mutations as a Cause for Intra-Familial Phenotypic Variability.LID – 10.1002/humu.22691 [doi]. Human Mutation.


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 (2014).Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.Nature Medicine, 20(9), 992-1000.


Yu D, Mathews CA, 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, Mesa Restrepo SC, 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, Riddle MA, Robertson MM, Romero R, Rosario MC, Rosenberg D, Ruhrmann S, Sabatti C, 12 Salvi E, Sampaio AS, Samuels J, Sandor P, Service SK, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Turiel M, Valencia Duarte AV, 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, Cath DC, 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 (2014). Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette’s Syndrome and OCD.LID – 10.1176/appi.ajp.2014.13101306 [doi]. American Journal of Psychiatry.


Coon H, Piasecki TM, Cook EH, Dunn D, Mermelstein RJ, Weiss RB, Cannon DS (2014). Association of the CHRNA4 neuronal nicotinic receptor subunit gene with frequency of binge drinking in young adults. Alcoholism: Clinical and Experimental Research, 38(4), 930-7.


Cannon DS, Mermelstein RJ, Hedeker D, Coon H, Cook EH, McMahon WM, Hamil C, Dunn D, Weiss RB (2014). Effect of neuronal nicotinic acetylcholine receptor genes (CHRN) on longitudinal cigarettes per day in adolescents and young adults. Nicotine & Tobacco Research, 16(2), 137-44.


Oakeson KF, Gil R, Clayton AL, Dunn 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 (2014). Genome degeneration and adaptation in a nascent stage of symbiosis. Genome Biology and Evolution, 6(1), 76-93.


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 (2013). Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking. Genetic Epidemiology, 37(8), 846-59.


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 (2013). 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. Human Mutation, 34(11), 1558-67.


Ashton NN, Roe DR, Weiss RB, Cheatham TE 3rd, Stewart RJ (2013). Self-tensioning aquatic caddisfly silk: Ca2+-dependent structure, strength, and load cycle hysteresis. Biomacromolecules, 14(10), 3668-81.


Flanigan KM, Ceco E, Lamar KM, Kaminoh Y, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Gappmaier E, Howard MT, Day JW, McDonald C, McNally EM, Weiss RB (2013). LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Annals of Neurology, 73(4), 481-8.


Flanigan KM, Wein N, Gurvich OL, Howard MT, Weiss RB (2013). Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2. Neuromuscular Disorders, 23(2), 192.


Wagner LA, Wang S, Wayner EA, Christensen C, Perkins SJ, Ward GW, Weiss RB, Dunn DM, Redd MJ, Spangrude GJ, Gleich GJ (2013). Developing and mature human granulocytes express ELP 6 in the cytoplasm. Human Antibodies, 22(1-2), 21-9.


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 J, 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, Ruczinski 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, Volzke 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, Stitzel 11 JA, Weiss RB, Kraft P, Bierut LJ (2012). Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers. Archives of General Psychiatry, 69(8), 854-60.


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 (2012). Interplay of genetic risk factors (CHRNA5-CHRNA3-CHRNB4) and cessation treatments in smoking cessation success. American Journal of Psychiatry, 169(7), 735-42.


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 (2012). Evidence-based path to newborn screening for Duchenne muscular dystrophy. Annals of Neurology, 71(3), 304-13.


Kaltenpoth M, Showers Corneli P, Dunn DM, Weiss RB, Strohm E, Seger J (2012). Accelerated evolution of mitochondrial but not nuclear genomes of Hymenoptera: new evidence from crabronid wasps. PLoS ONE, 7(3), e32826.


Clayton AL, Oakeson KF, Gutin M, Pontes A, Dunn DM, von Niederhausern AC, Weiss RB, Fisher M, Dale C (2012). A novel human-infection-derived bacterium provides insights into the evolutionary origins of mutualistic insect-bacterial symbioses. PLoS Genetics, 8(11), e1002990.


Flanigan KM, Dunn D, Larsen CA, Medne L, Bonnemann CB, Weiss RB (2011). Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene. Muscle & Nerve, 44(5), 822-5.


Flanigan KM, Dunn DM, von Niederhausern A, 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 (2011). Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. Human Mutation, 32(3), 299-308.


Weiss RB, Atkins JF (2011). Molecular biology. Translation goes global. [Review]. Science, 334(6062), 1509-10.


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 (2010). Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping. Genomics, 96(4), 199-210.


Saccone NL, Culverhouse RC, Schwantes-An TH, Cannon DS, Chen X, Cichon S, Giegling I, Han S, Han 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 (2010). Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD.LID – 10.1371/journal.pgen.1001053 [doi]LID – e1001053 [pii]. PLoS Genetics, 6(8).


Soltanzadeh P, Friez MJ, Dunn D, von Niederhausern A, Gurvich OL, Swoboda KJ, Sampson JB, Pestronk A, 10 Connolly AM, Florence JM, Finkel RS, Bonnemann CG, Medne L, Mendell JR, Mathews KD, Wong BL, Sussman MD, Zonana J, Kovak K, Gospe SM Jr, Gappmaier E, Taylor LE, Howard MT, Weiss RB, Flanigan KM (2010). Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscular Disorders, 20(8), 499-504.


Kaspar RW, Allen HD, Ray WC, Alvarez CE, Kissel JT, Pestronk A, Weiss RB, Flanigan KM, Mendell JR, Montanaro F (2009). Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy. Circulation: Cardiovascular Genetics, 2(6), 544-51.


Foley AR, Hu Y, Zou Y, Columbus A, Shoffner J, Dunn DM, Weiss RB, Bonnemann CG (2009). Autosomal recessive inheritance of classic Bethlem myopathy. Neuromuscular Disorders, 19(12), 813-7.


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, Weiss RB (2009). Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Human Mutation, 30(12), 1657-66.


Flanigan KM, Dunn DM, von Niederhausern A, Howard MT, Mendell J, Connolly A, Saunders C, Modrcin A, Dasouki M, Comi GP, Del Bo R, Pickart A, Jacobson R, Finkel R, Medne L, Weiss RB (2009). DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. Neuromuscular Disorders, 19(11), 743-8.


Ma Y, Miller JC, Crandall H, Larsen ET, Dunn DM, Weiss RB, Subramanian M, Weis JH, Zachary JF, Teuscher C, Weis JJ (2009).Interval-specific congenic lines reveal quantitative trait Loci with penetrant lyme arthritis phenotypes on chromosomes 5, 11, and 12. Infection and Immunity, 77(8), 3302-11.


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 (2009). Human neuronal acetylcholine receptor A5-A3-B4 haplotypes are associated with multiple nicotine dependence phenotypes. Nicotine & Tobacco Research, 11(7), 785-96.


Xing J, Watkins WS, Witherspoon DJ, Zhang Y, Guthery SL, Thara R, Mowry BJ, Bulayeva K, Weiss RB, Jorde LB (2009). Fine-scaled human genetic structure revealed by SNP microarrays. Genome Research, 19(5), 815-25.


Hammoud S, Emery BR, Dunn D, Weiss RB, Carrell DT (2009). Sequence alterations in the YBX2 gene are associated with male factor infertility. Fertility and Sterility, 91(4), 1090-5.


Gurvich OL, Maiti B, Weiss RB, Aggarwal G, Howard MT, Flanigan KM (2009). DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. Human Mutation, 30(4), 633-40.


Garrone NF, Blazer-Yost BL, Weiss RB, Lalouel JM, Rohrwasser A (2009). A human polymorphism affects NEDD4L subcellular targeting by leading to two isoforms that contain or lack a C2 domain. BMC Cell Biology, 10, 26.


Ajioka RS, Phillips JD, Weiss RB, Dunn DM, Smit MW, Proll SC, Katze MG, Kushner JP (2008). Downregulation of hepcidin in porphyria cutanea tarda. Blood, 112(12), 4723-8.


Debnath I, Roundy KM, Dunn DM, Weiss RB, Weis JJ, Weis JH (2008). Defining a transcriptional fingerprint of murine splenic B-cell development. Genes and Immunity, 9(8), 706-20.


Rajasekaran NS, Firpo MA, Milash BA, Weiss RB, Benjamin IJ (2008). Global expression profiling identifies a novel biosignature for protein aggregation R120GCryAB cardiomyopathy in mice. Physiological Genomics, 35(2), 165-72.


Weiss RB, Baker TB, Cannon DS, von Niederhausern A, Dunn DM, Matsunami N, Singh NA, Baird L, Coon H, McMahon WM, Piper ME, Fiore MC, Scholand MB, Connett JE, Kanner RE, Gahring LC, Rogers SW, Hoidal JR, Leppert MF (2008). A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age dependent nicotine addiction. PLoS Genetics, 4(7), e1000125.


Bohnsack JF, Whiting A, Gottschalk M, Dunn DM, Weiss R, Azimi PH, Philips JB 3rd, Weisman LE, Rhoads GG, Lin FY (2008).Population structure of invasive and colonizing strains of Streptococcus agalactiae from neonates of six U.S. Academic Centers from 1995 to 1999. Journal of Clinical Microbiology, 46(4), 1285-91.


Gurvich OL, Tuohy TM, Howard MT, Finkel RS, Medne L, Anderson CB, Weiss RB, Wilton SD, Flanigan KM (2008). DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy. Annals of Neurology, 63(1), 81-9.


Rohrwasser A, Lott P, Weiss RB, Lalouel JM (2008). From genetics to mechanism of disease liability. [Review]. Advances in Genetics,60, 701-26.


Wagner LA, Christensen CJ, Dunn DM, Spangrude GJ, Georgelas A, Kelley L, Esplin MS, Weiss RB, Gleich GJ (2007). EGO, a novel, noncoding RNA gene, regulates eosinophil granule protein transcript expression. Blood, 109(12), 5191-8.


Crandall H, Dunn DM, Ma Y, Wooten RM, Zachary JF, Weis JH, Weiss RB, Weis JJ (2006). Gene expression profiling reveals unique pathways associated with differential severity of lyme arthritis. Journal of Immunology, 9 177(11), 7930-42.


Hojgaard A, Close R, Dunn DM, Weiss RB, Weis JJ, Weis JH (2006). Altered localization of CXCL13 expressing cells in mice deficient in Pactolus following an inflammatory stimulus. Immunology, 119(2), 212-23.


White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers AL, Lalic T, Janson AA, Ginjaar HB, Breuning MH, den Dunnen JT (2006). Duplications in the DMD gene. Human Mutation, 27(9), 938-45.


Prahalad S, Bohnsack JF, Jorde LB, Whiting A, Clifford B, Dunn D, Weiss R, Moroldo M, Thompson SD, Glass DN, Bamshad MJ (2006). Association of two functional polymorphisms in the CCR5 gene with juvenile rheumatoid arthritis. Genes and Immunity, 7(468), 475.


Wooding S, Bufe B, Grassi C, Howard MT, Stone AC, Vazquez M, Dunn DM, Meyerhof W, Weiss RB, Bamshad MJ (2006).Independent evolution of bitter-taste sensitivity in humans and chimpanzees. Nature, 440(7086), 930-4.


Lin FY, Whiting A, Adderson E, Takahashi S, Dunn DM, Weiss R, Azimi PH, Philips JB 3rd, Weisman LE, Regan J, Clark P, Rhoads GG, Frasch CE, Troendle J, Moyer P, Bohnsack JF (2006). Phylogenetic lineages of invasive and colonizing strains of serotype III group B Streptococci from neonates: a multicenter prospective study. Journal of Clinical Microbiology, 44(4), 1257-61.


Crandall H, Ma Y, Dunn DM, Sundsbak RS, Zachary JF, Olofsson P, Holmdahl R, Weis JH, Weiss RB, Teuscher C, Weis JJ (2005).Bb2Bb3 regulation of murine Lyme arthritis is distinct from Ncf1 and independent of the phagocyte nicotinamide adenine dinucleotide phosphate oxidase. American Journal of Pathology, 167(3), 775-85.


Coon H, Dunn D, Lainhart J, Miller J, Hamil C, Battaglia A, Tancredi R, Leppert MF, Weiss R, McMahon W (2005). Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2). American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 135(1), 42-6.


Pankow JS, Dunn DM, Hunt SC, Leppert MF, Miller MB, Rao DC, Heiss G, Oberman A, Lalouel JM, Weiss RB (2005). Further evidence of a quantitative trait locus on chromosome 18 influencing postural change in systolic blood pressure: the Hypertension Genetic Epidemiology Network (HyperGEN) Study. American Journal of Hypertension, 18(5 Pt 1), 672-8.


Dent KM, Dunn DM, von Niederhausern AC, Aoyagi AT, Kerr L, Bromberg MB, Hart KJ, Tuohy T, White S, den Dunnen JT, Weiss RB, Flanigan KM (2005). Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. American Journal of Medical Genetics. Part A, 134(3), 295-8.


Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu ML, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KM, Weiss RB (2005). Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. Journal of Medical Genetics, 42(2), 108-20.


Wooding S, Stone AC, Dunn DM, Mummidi S, Jorde LB, Weiss RK, Ahuja S, Bamshad MJ (2005). Contrasting effects of natural selection on human and chimpanzee CC chemokine receptor 5. American Journal of Human Genetics, 76(2), 291-301.


Livingston RJ, von Niederhausern A, Jegga AG, Crawford DC, Carlson CS, Rieder MJ, Gowrisankar S, Aronow BJ, Weiss RB, Nickerson DA (2004). Pattern of sequence variation across 213 environmental response genes. Genome Research, 14(10A), 1821-31.


Cavalcanti AR, Dunn DM, Weiss R, Herrick G, Landweber LF, Doak TG (2004). Sequence features of Oxytricha trifallax (class Spirotrichea) macronuclear telomeric and subtelomeric sequences. Protist, 155(3), 311-22.


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.


Gibbs RA, Weinstock GM, Metzker ML, Muzny DM, Sodergren EJ, Scherer S, Scott G, Steffen D, Worley KC, Burch PE, Okwuonu G, Hines S, Lewis L, DeRamo C, Delgado O, Dugan-Rocha S, Miner G, Morgan M, Hawes A, Gill R, Celera, Holt RA, Adams MD, Amanatides PG, Baden-Tillson H, Barnstead M, Chin S, Evans CA, Ferriera S, Fosler C, Glodek A, Gu Z, Jennings D, Kraft CL, Nguyen T, Pfannkoch CM, Sitter C, Sutton GG, Venter JC, Woodage T, Smith D, Lee HM, Gustafson E, Cahill P, Kana A, Doucette-Stamm L, Weinstock K, Fechtel K, Weiss RB, Dunn DM, Green ED, Blakesley RW, Bouffard GG, De Jong PJ, Osoegawa K, Zhu B, Marra M, Schein J, Bosdet I, Fjell C, Jones S, Krzywinski M, Mathewson C, Siddiqui A, Wye N, McPherson J, Zhao S, Fraser CM, Shetty J, Shatsman S, Geer K, Chen Y, Abramzon S, Nierman WC, Havlak PH, Chen R, Durbin KJ, Egan A, Ren Y, Song XZ, Li B, Liu Y, Qin X, Cawley S, Worley KC, Cooney AJ, D’Souza LM, Martin K, Wu JQ, Gonzalez-Garay ML, Jackson AR, Kalafus KJ, McLeod MP, Milosavljevic A, Virk D, Volkov A, Wheeler DA, Zhang Z, Bailey JA, Eichler EE, Tuzun E, Birney E, Mongin E, Ureta-Vidal A, Woodwark C, Zdobnov E, Bork P, Suyama M, Torrents D, Alexandersson M, Trask BJ, Young JM, Huang H, Wang H, Xing H, Daniels S, Gietzen D, Schmidt J, Stevens K, Vitt U, Wingrove J, Camara F, Mar Alba M, Abril JF, Guigo R, Smit A, Dubchak I, Rubin EM, Couronne O, Poliakov A, Hubner N, Ganten D, Goesele C, Hummel O, Kreitler T, Lee YA, Monti J, Schulz H, Zimdahl H, Himmelbauer H, Lehrach H, Jacob HJ, Bromberg S, Gullings-Handley J, Jensen-Seaman MI, Kwitek AE, Lazar J, Pasko D, Tonellato PJ, Twigger S, Ponting CP, Duarte JM, Rice S, Goodstadt L, Beatson SA, Emes RD, Winter EE, Webber C, Brandt P, Nyakatura G, Adetobi M, Chiaromonte F, 8 Elnitski L, Eswara P, Hardison RC, Hou M, Kolbe D, Makova K, Miller W, Nekrutenko A, Riemer C, Schwartz S, Taylor J, Yang S, Zhang Y, Lindpaintner K, Andrews TD, Caccamo M, Clamp M, Clarke L, Curwen V, Durbin R, Eyras E, Searle SM, Cooper GM, Batzoglou S, Brudno M, Sidow A, Stone EA, Venter JC, Payseur BA, Bourque G, Lopez-Otin C, Puente XS, Chakrabarti K, Chatterji S, Dewey C, Pachter L, Bray N, Yap VB, Caspi A, Tesler G, Pevzner PA, Haussler D, Roskin KM, Baertsch R, Clawson H, Furey TS, Hinrichs AS, Karolchik D, Kent WJ, Rosenbloom KR, Trumbower H, Weirauch M, Cooper DN, Stenson PD, Ma B, Brent M, Arumugam M, Shteynberg D, Copley RR, Taylor MS, Riethman H, Mudunuri U, Peterson J, Guyer M, Felsenfeld A, Old S, Mockrin S, Collins F (2004). Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature, 428(6982), 493-521.


Gahring LC, Persiyanov K, Dunn D, Weiss R, Meyer EL, Rogers SW (2004). Mouse strain-specific nicotinic acetylcholine receptor expression by inhibitory interneurons and astrocytes in the dorsal hippocampus. Journal of Comparative Neurology, The, 468(3), 334-46.


Doak TG, Cavalcanti AR, Stover NA, Dunn DM, Weiss R, Herrick G, Landweber LF (2003). Sequencing the Oxytricha trifallax macronuclear genome: a pilot project. Trends in Genetics, 19(11), 603-7.

Padow M, Lai L, Deivanayagam C, DeLucas LJ, Weiss RB, Dunn DM, Wu X, Kappes JC (2003). Replication of chimeric human immunodeficiency virus type 1 (HIV-1) containing HIV-2 integrase (IN): naturally selected mutations in IN augment DNA synthesis. Journal of Virology, 77(20), 11050-9.


Flanigan KM, von Niederhausern A, Dunn DM, Alder J, Mendell JR, Weiss RB (2003). Rapid direct sequence analysis of the dystrophin gene. American Journal of Human Genetics, 72(4), 931-9.


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, Guigo 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 ES, Mouse Genome Sequencing Consortium (2002). Initial sequencing and comparative analysis of the mouse genome. Nature, 420(6915), 520-62.


Wooding SP, Watkins WS, Bamshad MJ, Dunn DM, Weiss RB, Jorde LB (2002). DNA sequence variation in a 3.7-kb noncoding sequence 5′ of the CYP1A2 gene: implications for human population history and natural 7 selection. American Journal of Human Genetics, 71(3), 528-42.


Bamshad MJ, Mummidi S, Gonzalez E, Ahuja SS, Dunn DM, Watkins WS, Wooding S, Stone AC, Jorde LB, Weiss RB, Ahuja SK (2002). A strong signature of balancing selection in the 5′ cis-regulatory region of CCR5. Proceedings of the National Academy of Sciences of the United States of America, 99(16), 10539-44.


Simin K, Scuderi A, Reamey J, Dunn D, Weiss R, Metherall JE, Letsou A (2002). Profiling patterned transcripts in Drosophila embryos. Genome Research, 12(7), 1040-7.


Dunn DM, Ishigami T, Pankow J, von Niederhausern A, Alder J, Hunt SC, Leppert MF, Lalouel JM, Weiss RB (2002). Common variant of human NEDD4L activates a cryptic splice site to form a frameshifted transcript. Journal of Human Genetics, 47(12), 665-76.


Papautsky I, Mohanty S, Weiss R, Frazier AB (2001). High lane density slab-gel electrophoresis using micromachined instrumentation. Electrophoresis, 22(18), 3908-15.


Robb FT, Maeder DL, Brown JR, DiRuggiero J, Stump MD, Yeh RK, Weiss RB, Dunn DM (2001). Genomic sequence of hyperthermophile, Pyrococcus furiosus: implications for physiology and enzymology. Methods in Enzymology, 330, 134-57.


Diruggiero J, Dunn D, Maeder DL, Holley-Shanks R, Chatard J, Horlacher R, Robb FT, Boos W, Weiss RB (2000). Evidence of recent lateral gene transfer among hyperthermophilic archaea. Molecular Microbiology, 38(4), 684-93.


Ma K, Weiss R, Adams MW (2000). Characterization of hydrogenase II from the hyperthermophilic archaeon Pyrococcus furiosus and assessment of its role in sulfur reduction. Journal of Bacteriology, 182(7), 1864-71.


Stump MD, Cherry JL, Weiss RB (1999). The use of modified primers to eliminate cycle sequencing artifacts. Nucleic Acids Research, 27(23), 4642-8.


Maeder DL, Weiss RB, Dunn DM, Cherry JL, Gonzalez JM, DiRuggiero J, Robb FT (1999). Divergence of the hyperthermophilic archaea Pyrococcus furiosus and P. horikoshii inferred from complete genomic sequences. Genetics, 152(4), 1299-305.


Roy R, Mukund S, Schut GJ, Dunn DM, Weiss R, Adams MW (1999). Purification and molecular characterization of the tungsten-containing formaldehyde ferredoxin oxidoreductase from the hyperthermophilic archaeon Pyrococcus furiosus: the third of a putative five-member tungstoenzyme family. Journal of Bacteriology, 181(4), 1171-80.


Ghosh M, Grunden AM, Dunn DM, Weiss R, Adams MW (1998). Characterization of native and recombinant forms of an unusual cobalt-dependent proline dipeptidase (prolidase) from the hyperthermophilic archaeon Pyrococcus furiosus. Journal of Bacteriology, 180(18), 4781-9.


Brown JR, Robb FT, Weiss R, Doolittle WF (1997). Evidence for the early divergence of tryptophanyl- and tyrosyl-tRNA synthetases. Journal of Molecular Evolution, 45(1), 9-16.


Riera J, Robb FT, Weiss R, Fontecave M (1997). Ribonucleotide reductase in the archaeon Pyrococcus furiosus: a critical enzyme in the evolution of DNA genomes? Proceedings of the National Academy of Sciences of the United States of America, 94(2), 475-8.


Huang SC, Stump MD, Weiss R, Caldwell KD (1996). Binding of biotinylated DNA to streptavidin-coated polystyrene latex: effects of chain length and particle size. Analytical Biochemistry, 237(1), 115-22.


Odelberg SJ, Weiss RB, Hata A, White R (1995). Template-switching during DNA synthesis by Thermus aquaticus DNA polymerase I. Nucleic Acids Research, 23(11), 2049-57.


Herbst KL, Nichols LM, Gesteland RF, Weiss RB (1994). A mutation in ribosomal protein L9 affects ribosomal hopping during translation of gene 60 from bacteriophage T4. Proceedings of the National Academy of Sciences of the United States of America, 91(26), 12525-9.


Cherry JL, Young H, Di Sera LJ, Ferguson FM, Kimball AW, Dunn DM, Gesteland RF, Weiss RB (1994). Enzyme-linked fluorescent detection for automated multiplex DNA sequencing. Genomics, 20(1), 68-74.


Wagner LA, Gesteland RF, Dayhuff TJ, Weiss RB (1994). An efficient Shine-Dalgarno sequence but not translation is necessary for lacZ mRNA stability in Escherichia coli. Journal of Bacteriology, 176(6), 1683-8.


Varesco L, Groden J, Spirio L, Robertson M, Weiss R, Gismondi V, Ferrara GB, White R (1993). A rapid screening method to detect nonsense and frameshift mutations: identification of disease-causing APC alleles. Cancer Research, 53(23), 5581-4.


Lazaro C, Gaona A, Xu G, Weiss R, Estivill X (1993). A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene. Human Genetics, 92(4), 429-30.


Karger AE, Weiss R, Gesteland RF (1993). Line scanning system for direct digital chemiluminescence imaging of DNA sequencing blots. Analytical Chemistry, 65(13), 1785-93.


Karger AE, Weiss R, Gesteland RF (1992). Digital chemiluminescence imaging of DNA sequencing blots using a charge-coupled device camera. Nucleic Acids Research, 20(24), 6657-65.


Chu TJ, Caldwell KD, Weiss RB, Gesteland RF, Pitt WG (1992). Low fluorescence background electroblotting membrane for DNA sequencing. Electrophoresis, 13(3), 105-14.


Gesteland RF, Weiss RB, Atkins JF (1992). Recoding: reprogrammed genetic decoding. [Review]. Science, 257(5077), 1640-1.


Cawthon RM, Andersen LB, Buchberg AM, Xu GF, O’Connell P, Viskochil D, Weiss RB, Wallace MR, Marchuk DA, Culver M, et al (1991). cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene. Genomics, 9(3), 446-60.


Weiss RB (1991). Ribosomal frameshifting, jumping and readthrough. [Review]. Current Opinion in Cell Biology, 3(6), 1051-5.


Atkins JF, Weiss RB, Thompson S, Gesteland RF (1991). Towards a genetic dissection of the basis of triplet decoding, and its natural subversion: programmed reading frame shifts and hops. [Review]. Annual Review of Genetics, 25, 201-28.


Xu GF, Lin B, Tanaka K, Dunn D, Wood D, Gesteland R, White R, Weiss R, Tamanoi F (1990). The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae. Cell, 63(4), 835-41.


Cawthon RM, O’Connell P, Buchberg AM, Viskochil D, Weiss RB, Culver M, Stevens J, Jenkins NA, Copeland NG, White R (1990).Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts. Genomics, 7(4), 555-65.


Weiss RB, Huang WM, Dunn DM (1990). A nascent peptide is required for ribosomal bypass of the coding gap in bacteriophage T4 gene 60. Cell, 62(1), 117-26.


Cawthon RM, Weiss R, Xu GF, Viskochil D, Culver M, Stevens J, Robertson M, Dunn D, Gesteland R, O’Connell P, et al (1990). A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell, 62(1), 193-201.


Wagner LA, Weiss RB, Driscoll R, Dunn DS, Gesteland RF (1990). Transcriptional slippage occurs during elongation at runs of adenine or thymine in Escherichia coli. Nucleic Acids Research, 18(12), 3529-35.


Atkins JF, Weiss RB, Gesteland RF (1990). Ribosome gymnastics–degree of difficulty 9.5, style 10.0. [Review]. Cell, 62(3), 413-23.


Weiss RB, Dunn DM, Atkins JF, Gesteland RF (1990). Ribosomal frameshifting from -2 to +50 nucleotides. [Review]. Progress in Nucleic Acid Research and Molecular Biology, 39, 159-83.


Weiss RB, Dunn DM, Shuh M, Atkins JF, Gesteland RF (1989). E. coli ribosomes re-phase on  retroviral frameshift signals at rates ranging from 2 to 50 percent. New Biologist, The, 1(2), 159-69.


Falahee MB, Weiss RB, O’Connor M, Doonan S, Gesteland RF, Atkins JF (1988). Mutants of translational components that alter reading frame by two steps forward or one step back. Journal of Biological Chemistry, 263(34), 18099-103.


Weiss R, Lindsley D, Falahee B, Gallant J (1988). On the mechanism of ribosomal rameshifting at hungry codons. Journal of Molecular Biology, 203(2), 403-10.


Weiss RB, Dunn DM, Dahlberg AE, Atkins JF, Gesteland RF (1988). Reading frame switch aused by base-pair formation between the 3′ end of 16S rRNA and the mRNA during elongation of protein synthesis in Escherichia coli. The EMBO Journal, 7(5), 1503-7.


Huang WM, Ao SZ, Casjens S, Orlandi R, Zeikus R, Weiss R, Winge D, Fang M (1988). A persistent untranslated sequence within bacteriophage T4 DNA topoisomerase gene 60. Science, 239(4843), 1005-12.


Weiss RB, Dunn DM, Atkins JF, Gesteland RF (1987). Slippery runs, shifty stops, backward steps, and forward hops: -2, -1, +1, +2, +5, and +6 ribosomal frameshifting. Cold Spring Harbor Laboratory. Symposia on Quantitative Biology, 52, 687-93.


Weiss RB, Gallant JA (1986). Frameshift suppression in aminoacyl-tRNA limited cells. Genetics, 112(4), 727-39.


Weiss RB (1984). Molecular model of ribosome frameshifting. Proceedings of the National Academy of Sciences of the United States of America, 81(18), 5797-801.


Weiss RB, Murphy JP, Gallant JA (1984). Genetic screen for cloned release factor genes. Journal of Bacteriology, 158(1), 362-4.


Weiss R, Gallant J (1983). Mechanism of ribosome frameshifting during translation of the genetic code. Nature, 302(5907), 389-93.


Gallant J, Erlich H, Weiss R, Palmer L, Nyari L (1982). Nonsense suppression in aminoacyl-t RNA limited cells. Molecular and General Genetics, 186(2), 221-7.


Olson MV, Page GS, Sentenac A, Piper PW, Worthington M, Weiss RB, Hall BD (1981). Only one of two closely related yeast suppressor tRNA genes contains an intervening sequence. Nature, 291(5815), 464-9.


Summers AO, Weiss RB, Jacoby GA (1980). Transposition of mercury resistance from a transferable R plasmic of Escherichia coli. Plasmid, 3(1), 35-47.


Jacoby GA, Weiss R, Korfhagen TR, Krishnapillai V, Jacob AE, Hedges RW (1978). An explanation for the apparent host specificity of Pseudomonas plasmid R91 expression. Journal of Bacteriology, 136(3), 1159-64.