2024

Adamson, W. E. et al. (2024) Phenome-wide analysis reveals epistatic associations between APOL1 variants and chronic kidney disease and multiple other disorders. EBioMedicine, 101, 105000. (doi: 10.1016/j.ebiom.2024.105000) (PMID:38360481) (PMCID:PMC10944146)

2023

Sabando, A. R. et al. (2023) Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease. Human Molecular Genetics, 32(6), pp. 897-906. (doi: 10.1093/hmg/ddac224) (PMID:36130218) (PMCID:PMC9990985)

Morales, F. et al. (2023) Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1. Human Molecular Genetics, 32(4), pp. 621-631. (doi: 10.1093/hmg/ddac231) (PMID:36099027)

2022

Oliwa, A., Hocking, C., Hamilton, M. J., Mclean, J. , Cumming, S., Ballantyne, B., Jampana, R., Longman, C., Monckton, D. G. and Farrugia, M. E. (2022) Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1. Neuromuscular Disorders, 32(11-12), pp. 893-902. (doi: 10.1016/j.nmd.2022.09.005) (PMID:36207221)

Taylor, A. S. et al. (2022) Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing. NAR Genomics and Bioinformatics, 4(4), lqac089. (doi: 10.1093/nargab/lqac089) (PMID:36478959) (PMCID:PMC9719798)

Dawson, J., Baine-Savanhu, F. K., Ciosi, M. , Maxwell, A. , Monckton, D. G. and Krause, A. (2022) A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry. Human Genetics and Genomics Advances, 3(4), 100130. (doi: 10.1016/j.xhgg.2022.100130) (PMID:35935919) (PMCID:PMC9352962)

Ciosi, M. , Young, R., Kwak, S. and Monckton, D. G. (2022) Longitudinal Analysis of Somatic Expansion of the HTT Repeat in Blood as a Potential Biomarker of Somatic Instability in Huntingon Disease. EHDN2022 Plenary Meeting - D: Wet biomarkers, Bologna, Italy, 16-18 September 2022. (doi: 10.1136/jnnp-2022-ehdn.57)

Ruiz de Sabando, A., Ciosi, M. , Galbete, A., Monckton, D. G. and Ramos-Arroyo, M. A. (2022) Somatic Mosaicism of the HTT Cag Repeat in Intermediate Allele Carriers with Neurocognitive Symptoms Compatible with Huntington Disease. EHDN2022 Plenary Meeting - A: Pathogenic mechanisms, Bologna, Italy, 16-18 September 2022. (doi: 10.1136/jnnp-2022-ehdn.1)

Lee, J.-M. et al. (2022) Genetic modifiers of Huntington disease differentially influence motor and cognitive domains. American Journal of Human Genetics, 109(5), pp. 885-899. (doi: 10.1016/j.ajhg.2022.03.004) (PMID:35325614)

Hamilton, M. J. et al. (2022) Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1. Neuromuscular Disorders, 32(5), pp. 377-389. (doi: 10.1016/j.nmd.2022.02.003) (PMID:35361525)

McAllister, B. et al. (2022) Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset. Nature Neuroscience, 25(4), pp. 446-457. (doi: 10.1038/s41593-022-01033-5) (PMID:35379994)

Antonijevic, I. A. et al. (2022) Suppression of somatic expansion as a novel therapeutic approach for Huntington disease and other repeat expansion disorders. GEN Biotechnology, 1(2), pp. 163-175. (doi: 10.1089/genbio.2021.0012)

van der Plas, E., Long, J. D., Koscik, T. R., Magnotta, V., Monckton, D. G. , Cumming, S. A., Gottschalk, A. C., Hefti, M., Gutmann, L. and Nopoulos, P. C. (2022) Blood-based markers of neuronal injury in adult-onset myotonic dystrophy type 1. Frontiers in Neurology, 12, 791065. (doi: 10.3389/fneur.2021.791065) (PMID:35126292) (PMCID:PMC8810511)

Morales, F., Corrales, E., Zhang, B., Vásquez, M., Santamaría-Ulloa, C., Quesada, H., Sirito, M., Estecio, M. R., Monckton, D. G. and Krahe, R. (2022) Myotonic dystrophy type 1 (DM1) clinical sub-types and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent. Human Molecular Genetics, 31(2), pp. 262-274. (doi: 10.1093/hmg/ddab243) (PMID:34432028)

2021

Miller, J. N., Kruger, A., Moser, D. J., Gutmann, L., van der Plas, E., Koscik, T. R., Cumming, S. A., Monckton, D. G. and Nopoulos, P. C. (2021) Cognitive deficits, apathy, and hypersomnolence represent the core brain symptoms of adult-onset myotonic dystrophy type 1. Frontiers in Neurology, 12, 700796. (doi: 10.3389/fneur.2021.700796) (PMID:34276551) (PMCID:PMC8280288)

van der Plas, E., Koscik, T. R., Magnotta, V., Cumming, S. A., Monckton, D. , Gutmann, L. and Nopoulos, P. (2021) Neurocognitive features of motor premanifest individuals with myotonic dystrophy type 1. Neurology Genetics, 7(2), e577. (doi: 10.1212/NXG.0000000000000577) (PMID:33912661) (PMCID:PMC8075572)

Wenninger, S. et al. (2021) Associations between variant repeat interruptions and clinical outcomes in myotonic dystrophy type 1. Neurology Genetics, 7(2), e572. (doi: 10.1212/NXG.0000000000000572) (PMID:33884298) (PMCID:PMC8054967)

Koscik, T. R., van der Plas, E., Gutmann, L., Cumming, S. A., Monckton, D. G. , Magnotta, V., Shields, R. K. and Nopoulos, P. C. (2021) White matter microstructure relates to motor outcomes in myotonic dystrophy type 1 independently of disease duration and genetic burden. Scientific Reports, 11, 4886. (doi: 10.1038/s41598-021-84520-2) (PMID:33649422) (PMCID:PMC7921687)

Cumming, S. A., Oliwa, A., Stevens, G., Ballantyne, B., Mann, C., Razvi, S., Longman, C., Monckton, D. G. and Farrugia, M. E. (2021) A DM1 patient with CCG variant repeats: reaching the diagnosis. Neuromuscular Disorders, 31(3), pp. 232-238. (doi: 10.1016/j.nmd.2020.12.005) (PMID:33546847)

Ciosi, M. et al. (2021) Approaches to sequence the HTT CAG repeat expansion and quantify repeat length variation. Journal of Huntington's Disease, 10(1), pp. 53-74. (doi: 10.3233/jhd-200433) (PMID:33579864) (PMCID:PMC7990409)

Gomes-Pereira, M. and Monckton, D. G. (2021) Chronic exposure to cadmium and antioxidants does not affect the dynamics of expanded CAG•CTG trinucleotide repeats in a mouse cell culture system of unstable DNA. Frontiers in Cellular Neuroscience, 14, 606331. (doi: 10.3389/fncel.2020.606331) (PMID:33603644) (PMCID:PMC7884634)

2020

Breton, É., Légaré, C., Overend, G. , Guay, S.-P., Monckton, D. , Mathieu, J., Gagnon, C., Richer, L., Gallais, B. and Bouchard, L. (2020) DNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1. Epigenomics, 12(23), pp. 2051-2064. (doi: 10.2217/epi-2020-0328) (PMID:33301350)

Ballester-Lopez, A. et al. (2020) Preliminary findings on CTG expansion determination in different tissues from patients with myotonic dystrophy type 1. Genes, 11(11), 1321. (doi: 10.3390/genes11111321) (PMID:33171734) (PMCID:PMC7695006)

Landfeldt, E., Nikolenko, N., Jimenez‑Moreno, C., Cumming, S., Monckton, D. , Faber, C. G., Merkies, I. S.J., Gorman8, G., Turner, C. and Lochmüller, H. (2020) Change over time in ability to perform activities of daily living in myotonic dystrophy type 1. Journal of Neurology, 267(11), pp. 3235-3242. (doi: 10.1007/s00415-020-09970-6) (PMID:32542526) (PMCID:PMC7578145)

Miller, J. N., van der Plas, E., Hamilton, M., Koscik, T. R., Gutmann, L., Cumming, S. A., Monckton, D. G. and Nopoulos, P. C. (2020) Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1. Neurology Genetics, 6(5), e504. (doi: 10.1212/NXG.0000000000000504) (PMID:32851192) (PMCID:PMC7428360)

Lu, A. T. et al. (2020) DNA methylation study of Huntington's disease and motor progression in patients and in animal models. Nature Communications, 11, 4529. (doi: 10.1038/s41467-020-18255-5) (PMID:32913184) (PMCID:PMC7484780)

Ballester-Lopez, A. et al. (2020) The need for establishing a universal CTG sizing method in myotonic dystrophy type 1. Genes, 11(7), 757. (doi: 10.3390/genes11070757) (PMID:32645888)

Kim, K.-H. et al. (2020) Genetic and functional analyses point to FAN1 as the source of multiple Huntington disease modifier effects. American Journal of Human Genetics, 107(1), pp. 96-110. (doi: 10.1016/j.ajhg.2020.05.012) (PMID:32589923) (PMCID:PMC7332667)

Ellis, N. et al. (2020) Genetic risk underlying psychiatric and cognitive symptoms in Huntington’s Disease. Biological Psychiatry, 87(9), pp. 857-865. (doi: 10.1016/j.biopsych.2019.12.010) (PMID:32087949)

Kurkiewicz, A. et al. (2020) Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial. PLoS ONE, 15(4), e0231000. (doi: 10.1371/journal.pone.0231000) (PMID:32287265) (PMCID:PMC7156058)

Landfeldt, E., Nikolenko, N., Jimenez‐Moreno, C., Cumming, S., Monckton, D. G. , Faber, C. G., Merkies, I. S.J., Gorman, G., Turner, C. and Lochmüller, H. (2020) Activities of daily living in myotonic dystrophy type 1. Acta Neurologica Scandinavica, 141(5), pp. 380-387. (doi: 10.1111/ane.13215) (PMID:31889295)

Flower, M., Lomeikaite, V., Holmans, P., Jones, L., Tabrizi, S. J. and Monckton, D. G. (2020) Reply: The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich’s ataxia. Brain, 143(4), e26. (doi: 10.1093/brain/awaa044) (PMID:32154840)

Ballester‐Lopez, A. et al. (2020) A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype. Human Mutation, 41(2), pp. 420-431. (doi: 10.1002/humu.23932) (PMID:31608518)

2019

Ciosi, M. et al. (2019) A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes. EBioMedicine, 48, pp. 568-580. (doi: 10.1016/j.ebiom.2019.09.020) (PMID:31607598) (PMCID:PMC6838430)

Cumming, S. A. et al. (2019) Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort. Neurology, 93(10), e995-e1009. (doi: 10.1212/WNL.0000000000008056) (PMID:31395669) (PMCID:PMC6745735)

van der Plas, E. et al. (2019) Brain structural features of myotonic dystrophy type 1 and their relationship with CTG repeats. Journal of Neuromuscular Diseases, 6(3), pp. 321-332. (doi: 10.3233/jnd-190397) (PMID:31306140)

Lee, J.-M. et al. (2019) CAG repeat not polyglutamine length determines timing of Huntington’s disease onset. Cell, 178(4), 887-900.e14. (doi: 10.1016/j.cell.2019.06.036)

Overend, G. , Légaré, C., Mathieu, J., Bouchard, L., Gagnon, C. and Monckton, D. G. (2019) Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes. Human Molecular Genetics, 28(13), pp. 2245-2254. (doi: 10.1093/hmg/ddz055) (PMID:31220271)

Flower, M. et al. (2019) MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1. Brain, 142(7), pp. 1876-1886. (doi: 10.1093/brain/awz115) (PMID:31216018) (PMCID:PMC6598626)

Heskamp, L., van Nimwegen, M., Ploegmakers, M. J., Bassez, G., Deux, J.-F., Cumming, S. A., Monckton, D. G. , van Engelen, B. G.M. and Heerschap, A. (2019) Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI. Neurology, 92(24), e2803-e2814. (doi: 10.1212/WNL.0000000000007648) (PMID:31118244) (PMCID:PMC6598795)

Légaré, C., Overend, G. , Guay, S.-P., Monckton, D. G. , Mathieu, J., Gagnon, C. and Bouchard, L. (2019) gene DNA methylation levels are associated with muscular and respiratory profiles in DM1. Neurology Genetics, 5(3), e338. (doi: 10.1212/NXG.0000000000000338) (PMID:31334355) (PMCID:PMC6568328)

Corrales, E., Vásquez, M., Zhang, B., Santamaría-Ulloa, C., Cuenca, P., Krahe, R., Monckton, D. G. and Morales, F. (2019) Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1. PLoS ONE, 14(5), e0216407. (doi: 10.1371/journal.pone.0216407) (PMID:31048891) (PMCID:PMC6497304)

Monckton, D. G. (2019) Manage risk of accidental gene editing of germline. Nature, 568(7753), p. 458. (doi: 10.1038/d41586-019-01284-6) (PMID:31015694)

Landfeldt, E., Nikolenko, N., Jimenez-Moreno, C., Cumming, S., Monckton, D. G. , Gorman, G., Turner, C. and Lochmüller, H. (2019) Disease burden of myotonic dystrophy type 1. Journal of Neurology, 266(4), pp. 998-1006. (doi: 10.1007/s00415-019-09228-w) (PMID:30788616) (PMCID:PMC6420885)

Wilkinson, C. M., Roughley, M., Moffat, R. D., Monckton, D. G. and MacGregor, M. (2019) In search of Robert Bruce, part I: craniofacial analysis of the skull excavated at Dunfermline in 1819. Journal of Archaeological Science: Reports, 24, pp. 556-564. (doi: 10.1016/j.jasrep.2019.02.018)

van Dorst, M., Okkersen, K., Kessels, R. P.C., Meijer, F. J.A., Monckton, D. G. , van Engelen, B. G.M., Tuladhar, A. M. and Raaphorst, J. (2019) Structural white matter networks in myotonic dystrophy type 1. NeuroImage: Clinical, 21, 101615. (doi: 10.1016/j.nicl.2018.101615) (PMID:30522973) (PMCID:PMC6413352)

2018

Rahmadi, R., Groot, P., van Rijn, M. H., van den Brand, J. A., Heins, M., Knoop, H., Heskes, T. and OPTIMISTIC Consortium, (2018) Causality on longitudinal data: Stable specification search in constrained structural equation modeling. Statistical Methods in Medical Research, 27(12), pp. 3814-3834. (doi: 10.1177/0962280217713347) (PMID:28657454) (PMCID:PMC6249641)

Ashizawa, T. et al. (2018) Consensus-based care recommendations for adults with myotonic dystrophy type 1. Neurology: Clinical Practice, 8(6), pp. 507-520. (doi: 10.1212/CPJ.0000000000000531) (PMID:30588381) (PMCID:PMC6294540)

Cumming, S. A. et al. (2018) De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1. European Journal of Human Genetics, 26(11), pp. 1635-1647. (doi: 10.1038/s41431-018-0156-9) (PMID:29967337) (PMCID:PMC6189127)

Hamilton, M. J., McLean, J., Cumming, S., Ballantyne, B., McGhie, J., Jampana, R., Longman, C., Evans, J. J. , Monckton, D. G. and Farrugia, M. E. (2018) Outcome measures for central nervous system evaluation in myotonic dystrophy type 1 may be confounded by deficits in motor function or insight. Frontiers in Neurology, 9, 780. (doi: 10.3389/fneur.2018.00780) (PMID:30333784) (PMCID:PMC6176265)

Ciosi, M. et al. (2018) Glutamine Codon Usage and Somatic Mosaicism of the HTT CAG Repeat Are Modifiers of Huntington Disease Severity. EHDN 2018 Plenary Meeting, Vienna, Austria, 14-16 Sep 2018.

Flower, M., Lomeikaite, V., Ciosi, M. , Morales, F., Lo, K., Hensman Moss, D., Jones, L., Holmans, P., Tabrizi, S. J. and Monckton, D. G. (2018) Genetic Variation in MSH3 That Lowers Its Expression Ameliorates Disease Course and Limits Repeat Expansion in Huntington’s Disease and Myotonic Dystrophy Type 1. EHDN 2018 Plenary Meeting, Vienna, Austria, 14-16 Sep 2018.

Ging, H., Nethisinghe, S., Chatzi, A., Ciosi, M. , Monckton, D. G. and Giunti, P. (2018) Determining the CAG Repeat Mosaic in Post-mortem Human HD Brains. EHDN 2018 Plenary Meeting, Vienna, Austria, 14-16 Sep 2018.

Levesley, J., Baine, F., Ciosi, M. , Maxwell, A. , Monckton, D. G. and Krause, A. (2018) A CIS-acting Modifier of Age at Diagnosis of Huntington Disease in Black South African Patients. EHDN 2018 Plenary Meeting, Vienna, Austria, 14-16 Sep 2018.

Okkersen, K. et al. (2018) Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. Lancet Neurology, 17(8), pp. 671-680. (doi: 10.1016/S1474-4422(18)30203-5) (PMID:29934199)

Ciosi, M. , Cumming, S. A., Alshammari, A. M., Symeonidi, E., Herzyk, P. , Mcguinness, D. , Galbraith, J., Hamilton, G. and Monckton, D. G. (2018) Library preparation and MiSeq sequencing for the genotyping-by-sequencing of the Huntington disease HTT exon one trinucleotide repeat and the quantification of somatic mosaicism [Protocol]. Other. Springer Nature. (doi: 10.21203/rs.2.1581/v2).

Wood, L. et al. (2018) 222nd ENMC International Workshop: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1–2 July 2016. Neuromuscular Disorders, 28(5), pp. 463-469. (doi: 10.1016/j.nmd.2018.02.003) (PMID:29550152)

2017

Okkersen, K., Monckton, D. G. , Le, N., Tuladhar, A. M., Raaphorst, J. and van Engelen, B. G.M. (2017) Brain imaging in myotonic dystrophy type 1: a systematic review. Neurology, 89(9), pp. 960-969. (doi: 10.1212/WNL.0000000000004300) (PMID:28768849)

Gomes-Pereira, M. and Monckton, D. G. (2017) Ethidium bromide modifies the agarose electrophoretic mobility of CAG•CTG alternative DNA structures generated by PCR. Frontiers in Cellular Neuroscience, 11, 153. (doi: 10.3389/fncel.2017.00153) (PMID:28611596) (PMCID:PMC5447772)

Wood, L. et al. (2017) The UK myotonic dystrophy patient registry: facilitating and accelerating clinical research. Journal of Neurology, 264(5), pp. 979-988. (doi: 10.1007/s00415-017-8483-2) (PMID:28397002) (PMCID:PMC5413526)

DiPaolo, G., Jimenez-Moreno, C., Nikolenko, N., Atalaia, A., Monckton, D. G. , Guglieri, M. and Lochmüller, H. (2017) Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA). Journal of Neurology, 264(4), pp. 701-708. (doi: 10.1007/s00415-017-8399-x) (PMID:28168524)

Hamilton, M. et al. (2017) Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: a multicentre cohort follow-up study. PLoS ONE, 12(3), e0174166. (doi: 10.1371/journal.pone.0174166) (PMID:28323905) (PMCID:PMC5360313)

Rahmadi, R., Groot, P., Heins, M., Knoop, H., Heskes, T. and OPTIMISM Consortium, (2017) Causality on cross-sectional data: Stable specification search in constrained structural equation modeling. Applied Soft Computing, 52, pp. 687-698. (doi: 10.1016/j.asoc.2016.10.003)

Botta, A., Rossi, G., Marcaurelio, M., Fontana, L., D'Apice, M. R., Brancati, F., Massa, R., Monckton, D. G. , Sangiuolo, F. and Novelli, G. (2017) Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles. European Journal of Human Genetics, 25(2), pp. 257-261. (doi: 10.1038/ejhg.2016.148) (PMID:27876818)

van Agtmaal, E. L. et al. (2017) CRISPR/Cas9-induced (CTG⋅CAG)n repeat instability in the myotonic dystrophy type 1 locus: implications for therapeutic genome editing. Molecular Therapy, 25(1), pp. 24-43. (doi: 10.1016/j.ymthe.2016.10.014)

2016

Monckton, D. , Ciosi, M. , Mubarak, A., Cumming, S., Hamilton, G., Maxwell, A. , The International-Venezuela Collaborative Research Group, -, The Scottish Myotonic Dystrophy Genetic Variation Consortium, - and The Track-On HD Research Team, - (2016) Cryptic Polyglutamine Repeat Sequence Variation and Somatic Instability in Huntington’s Disease: Drivers of Pathology? European Huntington's Disease Network 9th Plenary Meeting, The Hague, The Netherlands, 16-18 Sep 2016. (doi: 10.1136/jnnp-2016-314597.2)

Morales, F., Vásquez, M., Santamaría, C., Cuenca, P., Corrales, E. and Monckton, D. G. (2016) A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients. DNA Repair, 40, pp. 57-66. (doi: 10.1016/j.dnarep.2016.01.001)

2015

van Engelen, B., The OPTIMISTIC Consortium, and , (2015) Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial. Trials, 16(1), 224. (doi: 10.1186/s13063-015-0737-7) (PMID:26002596) (PMCID:PMC4449962)

Morales, F., Vásquez, M., Cuenca, P., Campos, D., Santamaría, C., del Valle, G., Brian, R., Sittenfeld, M. and Monckton, D. G. (2015) Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1. European Journal of Human Genetics, 23(5), pp. 646-653. (doi: 10.1038/ejhg.2014.138) (PMID:25052313)

Larson, E., Fyfe, I., Morton, A. J. and Monckton, D. G. (2015) Age-, tissue- and length-dependent bidirectional somatic CAG•CTG repeat instability in an allelic series of R6/2 Huntington disease mice. Neurobiology of Disease, 76, pp. 98-111. (doi: 10.1016/j.nbd.2015.01.004) (PMID:25662336)

2014

Gomes-Pereira, M., Hilley, J. D.,, Morales Montero, F., Adam, B., James, H. E. and Monckton, D. G. (2014) Disease-associated CAG•CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion. Nucleic Acids Research, 42(11), pp. 7047-7056. (doi: 10.1093/nar/gku285)

2013

Higham, C. and Monckton, D. (2013) Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington disease. Journal of the Royal Society: Interface, 10(88), p. 20130605. (doi: 10.1098/​rsif.2013.0605)

Tomé, S. et al. (2013) MSH3 polymorphisms and protein levels affect CAG repeat instability in huntington's disease mice. PLoS Genetics, 9(2), e1003280. (doi: 10.1371/journal.pgen.1003280)

2012

Morales Montero, F. et al. (2012) Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity. Human Molecular Genetics, 21(16), pp. 3558-3567. (doi: 10.1093/hmg/dds185)

Higham, C.F., Morales, F., Cobbold, C.A. , Haydon, D.T. and Monckton, D.G. (2012) High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations. Human Molecular Genetics, 21(11), pp. 2450-2463. (doi: 10.1093/hmg/dds059)

2011

Nestor, C.E. and Monckton, D.G. (2011) Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content. PLoS ONE, 6(12), e28260. (doi: 10.1371/journal.pone.0028260)

Groh, W.J., Groh, M.R., Shen, C., Monckton, D.G. , Bodkin, C.L. and Pascuzzi, R.M. (2011) Survival and CTG repeat expansion in adults with myotonic dystrophy type 1. Muscle and Nerve, 43(5), pp. 648-651. (doi: 10.1002/mus.21934)

2010

Braida, C. et al. (2010) Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. Human Molecular Genetics, 19(8), pp. 1399-1412. (doi: 10.1093/hmg/ddq015)

Holt, I., Quinlivan, R.C.M., Couto, J.M., Monckton, D.G. and Morris, G.E. (2010) The use of buccal cells for rapid diagnosis of myotonic dystrophy type 1. Translational Neuroscience, 1(3), pp. 195-199. (doi: 10.2478/v10134-010-0029-4)

2009

Higham, C., Wilcox, D., Haydon, D. , Cobbold, C. and Monckton, D. (2009) Modelling dynamic DNA in mytonic dystrophy. In: Sixth International Workshop on Computational Systems Biology, WCSB 2009, Aarhus, Denmark, 10-12 Jun 2009, pp. 63-66.

Spaans, F., Faber, C.G., Smeets, H.J.M., Hofman, P.A.M., Braida, C., Monckton, D.G. and de Die-Smulders, C.E.M. (2009) Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss. Journal of Neurology, Neurosurgery and Psychiatry, 80(9), pp. 1029-1412. (doi: 10.1136/jnnp.2008.170126)

Thompson, R., Schoser, B., Monckton, D.G. , Blonsky, K. and Lochmüller, H. (2009) Patient registries and trial readiness in myotonic dystrophy – TREAT-NMD/Marigold international workshop report. Neuromuscular Disorders, 19(12), p. 860. (doi: 10.1016/j.nmd.2009.08.009)

2007

Veitch, N.J. , Ennis, M., McAbney, J.P., Shelbourne, P.F. and Monckton, D.G. (2007) Inherited CAG center dot CTG allele length is a major modifier of somatic mutation length variability in Huntington disease. DNA Repair, 6(6), pp. 789-796. (doi: 10.1016/j.dnarep.2007.01.002)

Vicente, M., Monferrer, L., Poulos, M., Houseley, J., Monckton, D. , ODell, K., Swanson, M. and Artero, R. (2007) Muscleblind isoforms are functionally distinct and regulate alpha-actinin splicing. Differentiation, 75, pp. 427-440. (doi: 10.1111/j.1432-0436.2006.00156.x)

2006

Shelbourne, P. F. and Monckton, D. (2006) Somatic mosaicism of expanded CAG.CTG repeats in humans and mice: dynamics, mechanisms and consequences. In: Wells, R.D. and Ashizawa, T. (eds.) Genetic Instabilities and Neurological Diseases. Elsevier, pp. 537-561. ISBN 9780123694621 (doi: 10.1016/B978-012369462-1/50036-3)

Gomes-Pereira, M. and Monckton, D.G. (2006) Chemical modifiers of unstable expanded simple sequence repeats: What goes up, could come down. Mutation Research: Fundamental and Molecular Mechanisms of Mutagenesis, 598, pp. 15-34. (doi: 10.1016/j.mrfmmm.2006.01.011)

Houseley, J., Garcia-Casado, Z., Pascual, M., Paricio, N., ODell, K., Monckton, D. and Artero, R. (2006) Noncanonical RNAs from transcripts of the Drosophila muscleblind gene. Journal of Heredity, 97, pp. 253-260. (doi: 10.1093/jhered/esj037)

Rhodes, J., Monckton, D. , McAbney, J., Prescott, A. and Duncan, G. (2006) Increased SK3 expression in DM1 lens cells leads to impaired growth through a greater calcium-induced fragility. Human Molecular Genetics, 15, pp. 3559-3568.

2005

Houseley, J., Wang, Z., Brock, G., Soloway, J., Artero, R., Perez-Alonso, M., ODell, K. and Monckton, D. (2005) Myotonic dystrophy associated expanded CUG repeat muscleblind positive ribonuclear foci are not toxic to Drosophila. Human Molecular Genetics, 14, pp. 873-883. (doi: 10.1093/hmg/ddi080)

Monckton, D. (2005) A molecular explanation for the tissue specificity and progressive nature of Huntington disease? ChemTracts, 18, pp. 173-181.

Monckton, D. (2005) Using robots to find needles. Mechanisms of Ageing and Development, 126, pp. 1046-1050. (doi: 10.1016/j.mad.2005.08.002)

2004

Gomes-Pereira, M., Fortune, M.T., Ingram, L., McAbney, J.P. and Monckton, D.G. (2004) Pms2 is a genetic enhancer of trinucleotide CAG·CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion. Human Molecular Genetics, 13(16), 1815 -1825. (doi: 10.1093/hmg/ddh186)

Gomes-Pereira, M. and Monckton, D.G. (2004) Chemically induced increases and decreases in the rate of expansion of a CAG{middle dot}CTG triplet repeat. Nucleic Acids Research, 32(9), 2865 -2872. (doi: 10.1093/nar/gkh612)

Martorell, L., Gamez, J., Cayuela, M.L., Gould, F.K., McAbney, J.P., Ashizawa, T., Monckton, D.G. and Baiget, M. (2004) Germline mutational dynamics in myotonic dystrophy type 1 males: Allele length and age effects. Neurology, 62(2), 269 -274.

Coolbaugh-Murphy, M., Maleki, A., Ramagli, L., Frazier, M., Lichtiger, B., Monckton, D.G. , Siciliano, M.J. and Brown, B.W. (2004) Estimating mutant microsatellite allele frequencies in somatic cells by small-pool PCR. Genomics, 84(2), 419 -430. (doi: 10.1016/j.ygeno.2004.03.007)

Gomes-Pereira, M. and Monckton, D. (2004) Chemically induced increases and decreases in the rate of expansion of a CAG center dot CTG triplet repeat. Nucleic Acids Research, 32, pp. 2865-2872. (doi: 10.1093/nar/gkh612)

Gomes-Pereira, M., Bidichandani, S. I. and Monckton, D. G. (2004) Analysis of unstable triplet repeats using small-pool polymerase chain reaction. Methods in Molecular Biology(277), pp. 61-76. (doi: 10.1385/1-59259-804-8:061)

Gomes-Pereira, M. and Monckton, D. G. (2004) Mouse tissue culture models of unstable triplet repeats. Methods in Molecular Biology(277), pp. 215-227. (doi: 10.1385/1-59259-804-8:215)

Harper, P.S. and Monckton, D.G. (2004) Myotonic dystrophy. In: Engel, A.G. and Franzini-Armstrong, C. (eds.) Myology: Basic and Clinical. McGraw-Hill: New York, USA, pp. 1039-1076. ISBN 9780071371803

Martorell, L., Gamez, J., Cayuela, M., Gould, F., McAbney, J., Ashizawa, T., Monckton, D. and Baiget, M. (2004) Germline mutational dynamics in myotonic dystrophy type 1 males - Allele length and age effects. Neurology, 62, pp. 269-274.

Monckton, D. and Ashizawa, T. (2004) Molecular aspects of mytonic dystrophy: our current understanding. In: Harper, P., van Engelen, B., Eymard, B. and Wilcox, D. (eds.) Myotonic Dystrophy: Present Management, Future Therapy. Oxford University Press: Oxford, pp. 14-38. ISBN 9780198527824

2003

Libby, R.T. et al. (2003) Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice. Human Molecular Genetics, 12(1), 41 -50. (doi: 10.1093/hmg/ddg006)

2002

Abbruzzese, A., Costanzi Porrini, S., Mariani, B., Gould, F.K., McAbney, J.P., Monckton, D.G. , Ashizawa, T. and Giacanelli, M. (2002) Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1. Annals of Neurology, 52(4), 435 -441. (doi: 10.1002/ana.10304)

Zhang, Y., Monckton, D.G. , Siciliano, M.J., Connor, T.H. and Meistrich, M.L. (2002) Detection of radiation and cyclophosphamide-induced mutations in individual mouse sperm at a human expanded trinucleotide repeat locus transgene. Mutation Research (Genetic Toxicology and Environmental Mutagenesis), 516(1-2), 121 -138. (doi: 10.1016/S1383-5718(02)00035-9)

Timchenko, L., Tapscott, S., Cooper, T. and Monckton, D. (2002) Myotonic dystrophy: Discussion of molecular basis. Triple Repeat Diseases of the Nervous Systems, 516, pp. 27-45.

Zhang, Y., Monckton, D. , Siciliano, M.J., Connor, T.H. and Meistrich, M.L. (2002) Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm. Human Molecular Genetics, 11(7), pp. 791-798. (doi: 10.1093/hmg/11.7.791)

2001

Gomes-Pereira, M., Fortune, M.T. and Monckton, D.G. (2001) Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates. Human Molecular Genetics, 10(8), 845 -854.

Hollies, C.R., Monckton, D.G. and Jeffreys, A.J. (2001) Attempts to detect retrotransposition and de novo deletion of Alus and other dispersed repeats at specific loci in the human genome. European Journal of Human Genetics, 9(2), 143 -146.

Martorell, L., Monckton, D.G. , Sanchez, A., de Munain, A.L. and Baiget, M. (2001) Frequency and stability of the myotonic dystrophy type 1 premutation. Neurology, 56(3), 328 -335.

Gomes-Pereira, M., Fortune, M. and Monckton, D. (2001) Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cellDivision rates. Human Molecular Genetics, 10, pp. 845-854.

2000

Fortune, M.T., Vassilopoulos, C., Coolbaugh, M.I., Siciliano, M.J. and Monckton, D.G. (2000) Dramatic, expansion-biased, age-dependent, tissue specific somatic mosaicism in a transgenic mouse model of triplet repeat instability. Human Molecular Genetics, 9(3), 439 -445.

Gonzalez, I. et al. (2000) New nomenclature and DNA testing guidelines for myotonic dystrophy type 1(DM1). Neurology, 54(6), 1218 -1221.

Martorell, L., Monckton, D.G. , Gamez, J. and Baiget, M. (2000) Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1. European Journal of Human Genetics, 8(6), 423 -430.

Zheng, N.J., Monckton, D.G. , Wilson, G., Hagemeister, F., Chakraborty, R., Connor, T.H., Siciliano, M.J. and Meistrich, M.L. (2000) Frequency of minisatellite repeat number changes at the MS205 locus in human sperm before and after cancer chemotherapy. Environmental and Molecular Mutagenesis, 36(2), 134 -145. (doi: 10.1002/1098-2280(2000)36:2<134::AID-EM8>3.0.CO;2-D)

1999

Monckton, D.G. , Cayuela, M.L., Gould, F.K., Brock, G.J.R., de Silva, R. and Ashizawa, T. (1999) Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males. Human Molecular Genetics, 8(13), 2473 -2478.

Brock, G.J.R., Anderson, N.H. and Monckton, D.G. (1999) Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands. Human Molecular Genetics, 8(6), 1061 -1067.

1998

Martorell, L., Monckton, D.G. , Gamez, J., Johnson, K.J., Gich, I., deMunain, A.L. and Baiget, M. (1998) Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients. Human Molecular Genetics, 7(2), 307 -312.

1997

Monckton, D.G. , Coolbaugh, M.I., Ashizawa, K.T., Siciliano, M.J. and Caskey, C.T. (1997) Hypermutable myotonic dystrophy CTG repeats in transgenic mice. Nature Genetics, 15(2), 193 -196. (doi: 10.1038/ng0297-193)

1996

Ashizawa, T., Monckton, D.G. , Vaishnav, S., Patel, B.J., Voskova, A. and Caskey, C.T. (1996) Instability of the expanded (CTG)-n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy. Genomics, 36(1), 47 -53. (doi: 10.1006/geno.1996.0424)

Zhao, Z., Lee, C.C., Monckton, D.G. , Yazdani, A., Coolbaugh, M., Li, X. , Bailey, J., Shen, Y. and Caskey, C.T. (1996) Characterization and genomic mapping of genes and pseudogenes of a new human protein tyrosine phosphatase. Genomics, 35(1), 172 -181. (doi: 10.1006/geno.1996.0336)

1995

Monckton, D.G. , Wong, L.J.C., Ashizawa, T. and Caskey, C.T. (1995) Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses. Human Molecular Genetics, 4(1), 1 -8.

Monckton, D.G. and Caskey, C.T. (1995) Unstable triplet repeat diseases. Circulation, 91(2), 513 -520.

Timchenko, L., Monckton, D.G. and Caskey, C.T. (1995) Myotonic dystrophy: An unstable CTG repeat in a protein kinase gene. Seminars in Cell Biology, 6(1), 13 -19. (doi: 10.1016/1043-4682(95)90010-1)

Wong, L.J.C., Ashizawa, T., Monckton, D.J. , Caskey, C.T. and Richards, C.S. (1995) Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. American Journal of Human Genetics, 56(1), 114 -122.

Articles

Adamson, W. E. et al. (2024) Phenome-wide analysis reveals epistatic associations between APOL1 variants and chronic kidney disease and multiple other disorders. EBioMedicine, 101, 105000. (doi: 10.1016/j.ebiom.2024.105000) (PMID:38360481) (PMCID:PMC10944146)

Sabando, A. R. et al. (2023) Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease. Human Molecular Genetics, 32(6), pp. 897-906. (doi: 10.1093/hmg/ddac224) (PMID:36130218) (PMCID:PMC9990985)

Morales, F. et al. (2023) Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1. Human Molecular Genetics, 32(4), pp. 621-631. (doi: 10.1093/hmg/ddac231) (PMID:36099027)

Oliwa, A., Hocking, C., Hamilton, M. J., Mclean, J. , Cumming, S., Ballantyne, B., Jampana, R., Longman, C., Monckton, D. G. and Farrugia, M. E. (2022) Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1. Neuromuscular Disorders, 32(11-12), pp. 893-902. (doi: 10.1016/j.nmd.2022.09.005) (PMID:36207221)

Taylor, A. S. et al. (2022) Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing. NAR Genomics and Bioinformatics, 4(4), lqac089. (doi: 10.1093/nargab/lqac089) (PMID:36478959) (PMCID:PMC9719798)

Dawson, J., Baine-Savanhu, F. K., Ciosi, M. , Maxwell, A. , Monckton, D. G. and Krause, A. (2022) A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry. Human Genetics and Genomics Advances, 3(4), 100130. (doi: 10.1016/j.xhgg.2022.100130) (PMID:35935919) (PMCID:PMC9352962)

Lee, J.-M. et al. (2022) Genetic modifiers of Huntington disease differentially influence motor and cognitive domains. American Journal of Human Genetics, 109(5), pp. 885-899. (doi: 10.1016/j.ajhg.2022.03.004) (PMID:35325614)

Hamilton, M. J. et al. (2022) Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1. Neuromuscular Disorders, 32(5), pp. 377-389. (doi: 10.1016/j.nmd.2022.02.003) (PMID:35361525)

McAllister, B. et al. (2022) Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset. Nature Neuroscience, 25(4), pp. 446-457. (doi: 10.1038/s41593-022-01033-5) (PMID:35379994)

Antonijevic, I. A. et al. (2022) Suppression of somatic expansion as a novel therapeutic approach for Huntington disease and other repeat expansion disorders. GEN Biotechnology, 1(2), pp. 163-175. (doi: 10.1089/genbio.2021.0012)

van der Plas, E., Long, J. D., Koscik, T. R., Magnotta, V., Monckton, D. G. , Cumming, S. A., Gottschalk, A. C., Hefti, M., Gutmann, L. and Nopoulos, P. C. (2022) Blood-based markers of neuronal injury in adult-onset myotonic dystrophy type 1. Frontiers in Neurology, 12, 791065. (doi: 10.3389/fneur.2021.791065) (PMID:35126292) (PMCID:PMC8810511)

Morales, F., Corrales, E., Zhang, B., Vásquez, M., Santamaría-Ulloa, C., Quesada, H., Sirito, M., Estecio, M. R., Monckton, D. G. and Krahe, R. (2022) Myotonic dystrophy type 1 (DM1) clinical sub-types and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent. Human Molecular Genetics, 31(2), pp. 262-274. (doi: 10.1093/hmg/ddab243) (PMID:34432028)

Miller, J. N., Kruger, A., Moser, D. J., Gutmann, L., van der Plas, E., Koscik, T. R., Cumming, S. A., Monckton, D. G. and Nopoulos, P. C. (2021) Cognitive deficits, apathy, and hypersomnolence represent the core brain symptoms of adult-onset myotonic dystrophy type 1. Frontiers in Neurology, 12, 700796. (doi: 10.3389/fneur.2021.700796) (PMID:34276551) (PMCID:PMC8280288)

van der Plas, E., Koscik, T. R., Magnotta, V., Cumming, S. A., Monckton, D. , Gutmann, L. and Nopoulos, P. (2021) Neurocognitive features of motor premanifest individuals with myotonic dystrophy type 1. Neurology Genetics, 7(2), e577. (doi: 10.1212/NXG.0000000000000577) (PMID:33912661) (PMCID:PMC8075572)

Wenninger, S. et al. (2021) Associations between variant repeat interruptions and clinical outcomes in myotonic dystrophy type 1. Neurology Genetics, 7(2), e572. (doi: 10.1212/NXG.0000000000000572) (PMID:33884298) (PMCID:PMC8054967)

Koscik, T. R., van der Plas, E., Gutmann, L., Cumming, S. A., Monckton, D. G. , Magnotta, V., Shields, R. K. and Nopoulos, P. C. (2021) White matter microstructure relates to motor outcomes in myotonic dystrophy type 1 independently of disease duration and genetic burden. Scientific Reports, 11, 4886. (doi: 10.1038/s41598-021-84520-2) (PMID:33649422) (PMCID:PMC7921687)

Cumming, S. A., Oliwa, A., Stevens, G., Ballantyne, B., Mann, C., Razvi, S., Longman, C., Monckton, D. G. and Farrugia, M. E. (2021) A DM1 patient with CCG variant repeats: reaching the diagnosis. Neuromuscular Disorders, 31(3), pp. 232-238. (doi: 10.1016/j.nmd.2020.12.005) (PMID:33546847)

Ciosi, M. et al. (2021) Approaches to sequence the HTT CAG repeat expansion and quantify repeat length variation. Journal of Huntington's Disease, 10(1), pp. 53-74. (doi: 10.3233/jhd-200433) (PMID:33579864) (PMCID:PMC7990409)

Gomes-Pereira, M. and Monckton, D. G. (2021) Chronic exposure to cadmium and antioxidants does not affect the dynamics of expanded CAG•CTG trinucleotide repeats in a mouse cell culture system of unstable DNA. Frontiers in Cellular Neuroscience, 14, 606331. (doi: 10.3389/fncel.2020.606331) (PMID:33603644) (PMCID:PMC7884634)

Breton, É., Légaré, C., Overend, G. , Guay, S.-P., Monckton, D. , Mathieu, J., Gagnon, C., Richer, L., Gallais, B. and Bouchard, L. (2020) DNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1. Epigenomics, 12(23), pp. 2051-2064. (doi: 10.2217/epi-2020-0328) (PMID:33301350)

Ballester-Lopez, A. et al. (2020) Preliminary findings on CTG expansion determination in different tissues from patients with myotonic dystrophy type 1. Genes, 11(11), 1321. (doi: 10.3390/genes11111321) (PMID:33171734) (PMCID:PMC7695006)

Landfeldt, E., Nikolenko, N., Jimenez‑Moreno, C., Cumming, S., Monckton, D. , Faber, C. G., Merkies, I. S.J., Gorman8, G., Turner, C. and Lochmüller, H. (2020) Change over time in ability to perform activities of daily living in myotonic dystrophy type 1. Journal of Neurology, 267(11), pp. 3235-3242. (doi: 10.1007/s00415-020-09970-6) (PMID:32542526) (PMCID:PMC7578145)

Miller, J. N., van der Plas, E., Hamilton, M., Koscik, T. R., Gutmann, L., Cumming, S. A., Monckton, D. G. and Nopoulos, P. C. (2020) Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1. Neurology Genetics, 6(5), e504. (doi: 10.1212/NXG.0000000000000504) (PMID:32851192) (PMCID:PMC7428360)

Lu, A. T. et al. (2020) DNA methylation study of Huntington's disease and motor progression in patients and in animal models. Nature Communications, 11, 4529. (doi: 10.1038/s41467-020-18255-5) (PMID:32913184) (PMCID:PMC7484780)

Ballester-Lopez, A. et al. (2020) The need for establishing a universal CTG sizing method in myotonic dystrophy type 1. Genes, 11(7), 757. (doi: 10.3390/genes11070757) (PMID:32645888)

Kim, K.-H. et al. (2020) Genetic and functional analyses point to FAN1 as the source of multiple Huntington disease modifier effects. American Journal of Human Genetics, 107(1), pp. 96-110. (doi: 10.1016/j.ajhg.2020.05.012) (PMID:32589923) (PMCID:PMC7332667)

Ellis, N. et al. (2020) Genetic risk underlying psychiatric and cognitive symptoms in Huntington’s Disease. Biological Psychiatry, 87(9), pp. 857-865. (doi: 10.1016/j.biopsych.2019.12.010) (PMID:32087949)

Kurkiewicz, A. et al. (2020) Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial. PLoS ONE, 15(4), e0231000. (doi: 10.1371/journal.pone.0231000) (PMID:32287265) (PMCID:PMC7156058)

Landfeldt, E., Nikolenko, N., Jimenez‐Moreno, C., Cumming, S., Monckton, D. G. , Faber, C. G., Merkies, I. S.J., Gorman, G., Turner, C. and Lochmüller, H. (2020) Activities of daily living in myotonic dystrophy type 1. Acta Neurologica Scandinavica, 141(5), pp. 380-387. (doi: 10.1111/ane.13215) (PMID:31889295)

Flower, M., Lomeikaite, V., Holmans, P., Jones, L., Tabrizi, S. J. and Monckton, D. G. (2020) Reply: The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich’s ataxia. Brain, 143(4), e26. (doi: 10.1093/brain/awaa044) (PMID:32154840)

Ballester‐Lopez, A. et al. (2020) A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype. Human Mutation, 41(2), pp. 420-431. (doi: 10.1002/humu.23932) (PMID:31608518)

Ciosi, M. et al. (2019) A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes. EBioMedicine, 48, pp. 568-580. (doi: 10.1016/j.ebiom.2019.09.020) (PMID:31607598) (PMCID:PMC6838430)

Cumming, S. A. et al. (2019) Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort. Neurology, 93(10), e995-e1009. (doi: 10.1212/WNL.0000000000008056) (PMID:31395669) (PMCID:PMC6745735)

van der Plas, E. et al. (2019) Brain structural features of myotonic dystrophy type 1 and their relationship with CTG repeats. Journal of Neuromuscular Diseases, 6(3), pp. 321-332. (doi: 10.3233/jnd-190397) (PMID:31306140)

Lee, J.-M. et al. (2019) CAG repeat not polyglutamine length determines timing of Huntington’s disease onset. Cell, 178(4), 887-900.e14. (doi: 10.1016/j.cell.2019.06.036)

Overend, G. , Légaré, C., Mathieu, J., Bouchard, L., Gagnon, C. and Monckton, D. G. (2019) Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes. Human Molecular Genetics, 28(13), pp. 2245-2254. (doi: 10.1093/hmg/ddz055) (PMID:31220271)

Flower, M. et al. (2019) MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1. Brain, 142(7), pp. 1876-1886. (doi: 10.1093/brain/awz115) (PMID:31216018) (PMCID:PMC6598626)

Heskamp, L., van Nimwegen, M., Ploegmakers, M. J., Bassez, G., Deux, J.-F., Cumming, S. A., Monckton, D. G. , van Engelen, B. G.M. and Heerschap, A. (2019) Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI. Neurology, 92(24), e2803-e2814. (doi: 10.1212/WNL.0000000000007648) (PMID:31118244) (PMCID:PMC6598795)

Légaré, C., Overend, G. , Guay, S.-P., Monckton, D. G. , Mathieu, J., Gagnon, C. and Bouchard, L. (2019) gene DNA methylation levels are associated with muscular and respiratory profiles in DM1. Neurology Genetics, 5(3), e338. (doi: 10.1212/NXG.0000000000000338) (PMID:31334355) (PMCID:PMC6568328)

Corrales, E., Vásquez, M., Zhang, B., Santamaría-Ulloa, C., Cuenca, P., Krahe, R., Monckton, D. G. and Morales, F. (2019) Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1. PLoS ONE, 14(5), e0216407. (doi: 10.1371/journal.pone.0216407) (PMID:31048891) (PMCID:PMC6497304)

Monckton, D. G. (2019) Manage risk of accidental gene editing of germline. Nature, 568(7753), p. 458. (doi: 10.1038/d41586-019-01284-6) (PMID:31015694)

Landfeldt, E., Nikolenko, N., Jimenez-Moreno, C., Cumming, S., Monckton, D. G. , Gorman, G., Turner, C. and Lochmüller, H. (2019) Disease burden of myotonic dystrophy type 1. Journal of Neurology, 266(4), pp. 998-1006. (doi: 10.1007/s00415-019-09228-w) (PMID:30788616) (PMCID:PMC6420885)

Wilkinson, C. M., Roughley, M., Moffat, R. D., Monckton, D. G. and MacGregor, M. (2019) In search of Robert Bruce, part I: craniofacial analysis of the skull excavated at Dunfermline in 1819. Journal of Archaeological Science: Reports, 24, pp. 556-564. (doi: 10.1016/j.jasrep.2019.02.018)

van Dorst, M., Okkersen, K., Kessels, R. P.C., Meijer, F. J.A., Monckton, D. G. , van Engelen, B. G.M., Tuladhar, A. M. and Raaphorst, J. (2019) Structural white matter networks in myotonic dystrophy type 1. NeuroImage: Clinical, 21, 101615. (doi: 10.1016/j.nicl.2018.101615) (PMID:30522973) (PMCID:PMC6413352)

Rahmadi, R., Groot, P., van Rijn, M. H., van den Brand, J. A., Heins, M., Knoop, H., Heskes, T. and OPTIMISTIC Consortium, (2018) Causality on longitudinal data: Stable specification search in constrained structural equation modeling. Statistical Methods in Medical Research, 27(12), pp. 3814-3834. (doi: 10.1177/0962280217713347) (PMID:28657454) (PMCID:PMC6249641)

Ashizawa, T. et al. (2018) Consensus-based care recommendations for adults with myotonic dystrophy type 1. Neurology: Clinical Practice, 8(6), pp. 507-520. (doi: 10.1212/CPJ.0000000000000531) (PMID:30588381) (PMCID:PMC6294540)

Cumming, S. A. et al. (2018) De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1. European Journal of Human Genetics, 26(11), pp. 1635-1647. (doi: 10.1038/s41431-018-0156-9) (PMID:29967337) (PMCID:PMC6189127)

Hamilton, M. J., McLean, J., Cumming, S., Ballantyne, B., McGhie, J., Jampana, R., Longman, C., Evans, J. J. , Monckton, D. G. and Farrugia, M. E. (2018) Outcome measures for central nervous system evaluation in myotonic dystrophy type 1 may be confounded by deficits in motor function or insight. Frontiers in Neurology, 9, 780. (doi: 10.3389/fneur.2018.00780) (PMID:30333784) (PMCID:PMC6176265)

Okkersen, K. et al. (2018) Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. Lancet Neurology, 17(8), pp. 671-680. (doi: 10.1016/S1474-4422(18)30203-5) (PMID:29934199)

Wood, L. et al. (2018) 222nd ENMC International Workshop: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1–2 July 2016. Neuromuscular Disorders, 28(5), pp. 463-469. (doi: 10.1016/j.nmd.2018.02.003) (PMID:29550152)

Okkersen, K., Monckton, D. G. , Le, N., Tuladhar, A. M., Raaphorst, J. and van Engelen, B. G.M. (2017) Brain imaging in myotonic dystrophy type 1: a systematic review. Neurology, 89(9), pp. 960-969. (doi: 10.1212/WNL.0000000000004300) (PMID:28768849)

Gomes-Pereira, M. and Monckton, D. G. (2017) Ethidium bromide modifies the agarose electrophoretic mobility of CAG•CTG alternative DNA structures generated by PCR. Frontiers in Cellular Neuroscience, 11, 153. (doi: 10.3389/fncel.2017.00153) (PMID:28611596) (PMCID:PMC5447772)

Wood, L. et al. (2017) The UK myotonic dystrophy patient registry: facilitating and accelerating clinical research. Journal of Neurology, 264(5), pp. 979-988. (doi: 10.1007/s00415-017-8483-2) (PMID:28397002) (PMCID:PMC5413526)

DiPaolo, G., Jimenez-Moreno, C., Nikolenko, N., Atalaia, A., Monckton, D. G. , Guglieri, M. and Lochmüller, H. (2017) Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA). Journal of Neurology, 264(4), pp. 701-708. (doi: 10.1007/s00415-017-8399-x) (PMID:28168524)

Hamilton, M. et al. (2017) Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: a multicentre cohort follow-up study. PLoS ONE, 12(3), e0174166. (doi: 10.1371/journal.pone.0174166) (PMID:28323905) (PMCID:PMC5360313)

Rahmadi, R., Groot, P., Heins, M., Knoop, H., Heskes, T. and OPTIMISM Consortium, (2017) Causality on cross-sectional data: Stable specification search in constrained structural equation modeling. Applied Soft Computing, 52, pp. 687-698. (doi: 10.1016/j.asoc.2016.10.003)

Botta, A., Rossi, G., Marcaurelio, M., Fontana, L., D'Apice, M. R., Brancati, F., Massa, R., Monckton, D. G. , Sangiuolo, F. and Novelli, G. (2017) Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles. European Journal of Human Genetics, 25(2), pp. 257-261. (doi: 10.1038/ejhg.2016.148) (PMID:27876818)

van Agtmaal, E. L. et al. (2017) CRISPR/Cas9-induced (CTG⋅CAG)n repeat instability in the myotonic dystrophy type 1 locus: implications for therapeutic genome editing. Molecular Therapy, 25(1), pp. 24-43. (doi: 10.1016/j.ymthe.2016.10.014)

Morales, F., Vásquez, M., Santamaría, C., Cuenca, P., Corrales, E. and Monckton, D. G. (2016) A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients. DNA Repair, 40, pp. 57-66. (doi: 10.1016/j.dnarep.2016.01.001)

van Engelen, B., The OPTIMISTIC Consortium, and , (2015) Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial. Trials, 16(1), 224. (doi: 10.1186/s13063-015-0737-7) (PMID:26002596) (PMCID:PMC4449962)

Morales, F., Vásquez, M., Cuenca, P., Campos, D., Santamaría, C., del Valle, G., Brian, R., Sittenfeld, M. and Monckton, D. G. (2015) Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1. European Journal of Human Genetics, 23(5), pp. 646-653. (doi: 10.1038/ejhg.2014.138) (PMID:25052313)

Larson, E., Fyfe, I., Morton, A. J. and Monckton, D. G. (2015) Age-, tissue- and length-dependent bidirectional somatic CAG•CTG repeat instability in an allelic series of R6/2 Huntington disease mice. Neurobiology of Disease, 76, pp. 98-111. (doi: 10.1016/j.nbd.2015.01.004) (PMID:25662336)

Gomes-Pereira, M., Hilley, J. D.,, Morales Montero, F., Adam, B., James, H. E. and Monckton, D. G. (2014) Disease-associated CAG•CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion. Nucleic Acids Research, 42(11), pp. 7047-7056. (doi: 10.1093/nar/gku285)

Higham, C. and Monckton, D. (2013) Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington disease. Journal of the Royal Society: Interface, 10(88), p. 20130605. (doi: 10.1098/​rsif.2013.0605)

Tomé, S. et al. (2013) MSH3 polymorphisms and protein levels affect CAG repeat instability in huntington's disease mice. PLoS Genetics, 9(2), e1003280. (doi: 10.1371/journal.pgen.1003280)

Morales Montero, F. et al. (2012) Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity. Human Molecular Genetics, 21(16), pp. 3558-3567. (doi: 10.1093/hmg/dds185)

Higham, C.F., Morales, F., Cobbold, C.A. , Haydon, D.T. and Monckton, D.G. (2012) High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations. Human Molecular Genetics, 21(11), pp. 2450-2463. (doi: 10.1093/hmg/dds059)

Nestor, C.E. and Monckton, D.G. (2011) Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content. PLoS ONE, 6(12), e28260. (doi: 10.1371/journal.pone.0028260)

Groh, W.J., Groh, M.R., Shen, C., Monckton, D.G. , Bodkin, C.L. and Pascuzzi, R.M. (2011) Survival and CTG repeat expansion in adults with myotonic dystrophy type 1. Muscle and Nerve, 43(5), pp. 648-651. (doi: 10.1002/mus.21934)

Braida, C. et al. (2010) Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. Human Molecular Genetics, 19(8), pp. 1399-1412. (doi: 10.1093/hmg/ddq015)

Holt, I., Quinlivan, R.C.M., Couto, J.M., Monckton, D.G. and Morris, G.E. (2010) The use of buccal cells for rapid diagnosis of myotonic dystrophy type 1. Translational Neuroscience, 1(3), pp. 195-199. (doi: 10.2478/v10134-010-0029-4)

Spaans, F., Faber, C.G., Smeets, H.J.M., Hofman, P.A.M., Braida, C., Monckton, D.G. and de Die-Smulders, C.E.M. (2009) Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss. Journal of Neurology, Neurosurgery and Psychiatry, 80(9), pp. 1029-1412. (doi: 10.1136/jnnp.2008.170126)

Thompson, R., Schoser, B., Monckton, D.G. , Blonsky, K. and Lochmüller, H. (2009) Patient registries and trial readiness in myotonic dystrophy – TREAT-NMD/Marigold international workshop report. Neuromuscular Disorders, 19(12), p. 860. (doi: 10.1016/j.nmd.2009.08.009)

Veitch, N.J. , Ennis, M., McAbney, J.P., Shelbourne, P.F. and Monckton, D.G. (2007) Inherited CAG center dot CTG allele length is a major modifier of somatic mutation length variability in Huntington disease. DNA Repair, 6(6), pp. 789-796. (doi: 10.1016/j.dnarep.2007.01.002)

Vicente, M., Monferrer, L., Poulos, M., Houseley, J., Monckton, D. , ODell, K., Swanson, M. and Artero, R. (2007) Muscleblind isoforms are functionally distinct and regulate alpha-actinin splicing. Differentiation, 75, pp. 427-440. (doi: 10.1111/j.1432-0436.2006.00156.x)

Gomes-Pereira, M. and Monckton, D.G. (2006) Chemical modifiers of unstable expanded simple sequence repeats: What goes up, could come down. Mutation Research: Fundamental and Molecular Mechanisms of Mutagenesis, 598, pp. 15-34. (doi: 10.1016/j.mrfmmm.2006.01.011)

Houseley, J., Garcia-Casado, Z., Pascual, M., Paricio, N., ODell, K., Monckton, D. and Artero, R. (2006) Noncanonical RNAs from transcripts of the Drosophila muscleblind gene. Journal of Heredity, 97, pp. 253-260. (doi: 10.1093/jhered/esj037)

Rhodes, J., Monckton, D. , McAbney, J., Prescott, A. and Duncan, G. (2006) Increased SK3 expression in DM1 lens cells leads to impaired growth through a greater calcium-induced fragility. Human Molecular Genetics, 15, pp. 3559-3568.

Houseley, J., Wang, Z., Brock, G., Soloway, J., Artero, R., Perez-Alonso, M., ODell, K. and Monckton, D. (2005) Myotonic dystrophy associated expanded CUG repeat muscleblind positive ribonuclear foci are not toxic to Drosophila. Human Molecular Genetics, 14, pp. 873-883. (doi: 10.1093/hmg/ddi080)

Monckton, D. (2005) A molecular explanation for the tissue specificity and progressive nature of Huntington disease? ChemTracts, 18, pp. 173-181.

Monckton, D. (2005) Using robots to find needles. Mechanisms of Ageing and Development, 126, pp. 1046-1050. (doi: 10.1016/j.mad.2005.08.002)

Gomes-Pereira, M., Fortune, M.T., Ingram, L., McAbney, J.P. and Monckton, D.G. (2004) Pms2 is a genetic enhancer of trinucleotide CAG·CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion. Human Molecular Genetics, 13(16), 1815 -1825. (doi: 10.1093/hmg/ddh186)

Gomes-Pereira, M. and Monckton, D.G. (2004) Chemically induced increases and decreases in the rate of expansion of a CAG{middle dot}CTG triplet repeat. Nucleic Acids Research, 32(9), 2865 -2872. (doi: 10.1093/nar/gkh612)

Martorell, L., Gamez, J., Cayuela, M.L., Gould, F.K., McAbney, J.P., Ashizawa, T., Monckton, D.G. and Baiget, M. (2004) Germline mutational dynamics in myotonic dystrophy type 1 males: Allele length and age effects. Neurology, 62(2), 269 -274.

Coolbaugh-Murphy, M., Maleki, A., Ramagli, L., Frazier, M., Lichtiger, B., Monckton, D.G. , Siciliano, M.J. and Brown, B.W. (2004) Estimating mutant microsatellite allele frequencies in somatic cells by small-pool PCR. Genomics, 84(2), 419 -430. (doi: 10.1016/j.ygeno.2004.03.007)

Gomes-Pereira, M. and Monckton, D. (2004) Chemically induced increases and decreases in the rate of expansion of a CAG center dot CTG triplet repeat. Nucleic Acids Research, 32, pp. 2865-2872. (doi: 10.1093/nar/gkh612)

Gomes-Pereira, M., Bidichandani, S. I. and Monckton, D. G. (2004) Analysis of unstable triplet repeats using small-pool polymerase chain reaction. Methods in Molecular Biology(277), pp. 61-76. (doi: 10.1385/1-59259-804-8:061)

Gomes-Pereira, M. and Monckton, D. G. (2004) Mouse tissue culture models of unstable triplet repeats. Methods in Molecular Biology(277), pp. 215-227. (doi: 10.1385/1-59259-804-8:215)

Martorell, L., Gamez, J., Cayuela, M., Gould, F., McAbney, J., Ashizawa, T., Monckton, D. and Baiget, M. (2004) Germline mutational dynamics in myotonic dystrophy type 1 males - Allele length and age effects. Neurology, 62, pp. 269-274.

Libby, R.T. et al. (2003) Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice. Human Molecular Genetics, 12(1), 41 -50. (doi: 10.1093/hmg/ddg006)

Abbruzzese, A., Costanzi Porrini, S., Mariani, B., Gould, F.K., McAbney, J.P., Monckton, D.G. , Ashizawa, T. and Giacanelli, M. (2002) Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1. Annals of Neurology, 52(4), 435 -441. (doi: 10.1002/ana.10304)

Zhang, Y., Monckton, D.G. , Siciliano, M.J., Connor, T.H. and Meistrich, M.L. (2002) Detection of radiation and cyclophosphamide-induced mutations in individual mouse sperm at a human expanded trinucleotide repeat locus transgene. Mutation Research (Genetic Toxicology and Environmental Mutagenesis), 516(1-2), 121 -138. (doi: 10.1016/S1383-5718(02)00035-9)

Timchenko, L., Tapscott, S., Cooper, T. and Monckton, D. (2002) Myotonic dystrophy: Discussion of molecular basis. Triple Repeat Diseases of the Nervous Systems, 516, pp. 27-45.

Zhang, Y., Monckton, D. , Siciliano, M.J., Connor, T.H. and Meistrich, M.L. (2002) Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm. Human Molecular Genetics, 11(7), pp. 791-798. (doi: 10.1093/hmg/11.7.791)

Gomes-Pereira, M., Fortune, M.T. and Monckton, D.G. (2001) Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates. Human Molecular Genetics, 10(8), 845 -854.

Hollies, C.R., Monckton, D.G. and Jeffreys, A.J. (2001) Attempts to detect retrotransposition and de novo deletion of Alus and other dispersed repeats at specific loci in the human genome. European Journal of Human Genetics, 9(2), 143 -146.

Martorell, L., Monckton, D.G. , Sanchez, A., de Munain, A.L. and Baiget, M. (2001) Frequency and stability of the myotonic dystrophy type 1 premutation. Neurology, 56(3), 328 -335.

Gomes-Pereira, M., Fortune, M. and Monckton, D. (2001) Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cellDivision rates. Human Molecular Genetics, 10, pp. 845-854.

Fortune, M.T., Vassilopoulos, C., Coolbaugh, M.I., Siciliano, M.J. and Monckton, D.G. (2000) Dramatic, expansion-biased, age-dependent, tissue specific somatic mosaicism in a transgenic mouse model of triplet repeat instability. Human Molecular Genetics, 9(3), 439 -445.

Gonzalez, I. et al. (2000) New nomenclature and DNA testing guidelines for myotonic dystrophy type 1(DM1). Neurology, 54(6), 1218 -1221.

Martorell, L., Monckton, D.G. , Gamez, J. and Baiget, M. (2000) Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1. European Journal of Human Genetics, 8(6), 423 -430.

Zheng, N.J., Monckton, D.G. , Wilson, G., Hagemeister, F., Chakraborty, R., Connor, T.H., Siciliano, M.J. and Meistrich, M.L. (2000) Frequency of minisatellite repeat number changes at the MS205 locus in human sperm before and after cancer chemotherapy. Environmental and Molecular Mutagenesis, 36(2), 134 -145. (doi: 10.1002/1098-2280(2000)36:2<134::AID-EM8>3.0.CO;2-D)

Monckton, D.G. , Cayuela, M.L., Gould, F.K., Brock, G.J.R., de Silva, R. and Ashizawa, T. (1999) Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males. Human Molecular Genetics, 8(13), 2473 -2478.

Brock, G.J.R., Anderson, N.H. and Monckton, D.G. (1999) Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands. Human Molecular Genetics, 8(6), 1061 -1067.

Martorell, L., Monckton, D.G. , Gamez, J., Johnson, K.J., Gich, I., deMunain, A.L. and Baiget, M. (1998) Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients. Human Molecular Genetics, 7(2), 307 -312.

Monckton, D.G. , Coolbaugh, M.I., Ashizawa, K.T., Siciliano, M.J. and Caskey, C.T. (1997) Hypermutable myotonic dystrophy CTG repeats in transgenic mice. Nature Genetics, 15(2), 193 -196. (doi: 10.1038/ng0297-193)

Ashizawa, T., Monckton, D.G. , Vaishnav, S., Patel, B.J., Voskova, A. and Caskey, C.T. (1996) Instability of the expanded (CTG)-n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy. Genomics, 36(1), 47 -53. (doi: 10.1006/geno.1996.0424)

Zhao, Z., Lee, C.C., Monckton, D.G. , Yazdani, A., Coolbaugh, M., Li, X. , Bailey, J., Shen, Y. and Caskey, C.T. (1996) Characterization and genomic mapping of genes and pseudogenes of a new human protein tyrosine phosphatase. Genomics, 35(1), 172 -181. (doi: 10.1006/geno.1996.0336)

Monckton, D.G. , Wong, L.J.C., Ashizawa, T. and Caskey, C.T. (1995) Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses. Human Molecular Genetics, 4(1), 1 -8.

Monckton, D.G. and Caskey, C.T. (1995) Unstable triplet repeat diseases. Circulation, 91(2), 513 -520.

Timchenko, L., Monckton, D.G. and Caskey, C.T. (1995) Myotonic dystrophy: An unstable CTG repeat in a protein kinase gene. Seminars in Cell Biology, 6(1), 13 -19. (doi: 10.1016/1043-4682(95)90010-1)

Wong, L.J.C., Ashizawa, T., Monckton, D.J. , Caskey, C.T. and Richards, C.S. (1995) Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. American Journal of Human Genetics, 56(1), 114 -122.

Book Sections

Shelbourne, P. F. and Monckton, D. (2006) Somatic mosaicism of expanded CAG.CTG repeats in humans and mice: dynamics, mechanisms and consequences. In: Wells, R.D. and Ashizawa, T. (eds.) Genetic Instabilities and Neurological Diseases. Elsevier, pp. 537-561. ISBN 9780123694621 (doi: 10.1016/B978-012369462-1/50036-3)

Harper, P.S. and Monckton, D.G. (2004) Myotonic dystrophy. In: Engel, A.G. and Franzini-Armstrong, C. (eds.) Myology: Basic and Clinical. McGraw-Hill: New York, USA, pp. 1039-1076. ISBN 9780071371803

Monckton, D. and Ashizawa, T. (2004) Molecular aspects of mytonic dystrophy: our current understanding. In: Harper, P., van Engelen, B., Eymard, B. and Wilcox, D. (eds.) Myotonic Dystrophy: Present Management, Future Therapy. Oxford University Press: Oxford, pp. 14-38. ISBN 9780198527824

Research Reports or Papers

Ciosi, M. , Cumming, S. A., Alshammari, A. M., Symeonidi, E., Herzyk, P. , Mcguinness, D. , Galbraith, J., Hamilton, G. and Monckton, D. G. (2018) Library preparation and MiSeq sequencing for the genotyping-by-sequencing of the Huntington disease HTT exon one trinucleotide repeat and the quantification of somatic mosaicism [Protocol]. Other. Springer Nature. (doi: 10.21203/rs.2.1581/v2).

Conference or Workshop Item

Ciosi, M. , Young, R., Kwak, S. and Monckton, D. G. (2022) Longitudinal Analysis of Somatic Expansion of the HTT Repeat in Blood as a Potential Biomarker of Somatic Instability in Huntingon Disease. EHDN2022 Plenary Meeting - D: Wet biomarkers, Bologna, Italy, 16-18 September 2022. (doi: 10.1136/jnnp-2022-ehdn.57)

Ruiz de Sabando, A., Ciosi, M. , Galbete, A., Monckton, D. G. and Ramos-Arroyo, M. A. (2022) Somatic Mosaicism of the HTT Cag Repeat in Intermediate Allele Carriers with Neurocognitive Symptoms Compatible with Huntington Disease. EHDN2022 Plenary Meeting - A: Pathogenic mechanisms, Bologna, Italy, 16-18 September 2022. (doi: 10.1136/jnnp-2022-ehdn.1)

Ciosi, M. et al. (2018) Glutamine Codon Usage and Somatic Mosaicism of the HTT CAG Repeat Are Modifiers of Huntington Disease Severity. EHDN 2018 Plenary Meeting, Vienna, Austria, 14-16 Sep 2018.

Flower, M., Lomeikaite, V., Ciosi, M. , Morales, F., Lo, K., Hensman Moss, D., Jones, L., Holmans, P., Tabrizi, S. J. and Monckton, D. G. (2018) Genetic Variation in MSH3 That Lowers Its Expression Ameliorates Disease Course and Limits Repeat Expansion in Huntington’s Disease and Myotonic Dystrophy Type 1. EHDN 2018 Plenary Meeting, Vienna, Austria, 14-16 Sep 2018.

Ging, H., Nethisinghe, S., Chatzi, A., Ciosi, M. , Monckton, D. G. and Giunti, P. (2018) Determining the CAG Repeat Mosaic in Post-mortem Human HD Brains. EHDN 2018 Plenary Meeting, Vienna, Austria, 14-16 Sep 2018.

Levesley, J., Baine, F., Ciosi, M. , Maxwell, A. , Monckton, D. G. and Krause, A. (2018) A CIS-acting Modifier of Age at Diagnosis of Huntington Disease in Black South African Patients. EHDN 2018 Plenary Meeting, Vienna, Austria, 14-16 Sep 2018.

Monckton, D. , Ciosi, M. , Mubarak, A., Cumming, S., Hamilton, G., Maxwell, A. , The International-Venezuela Collaborative Research Group, -, The Scottish Myotonic Dystrophy Genetic Variation Consortium, - and The Track-On HD Research Team, - (2016) Cryptic Polyglutamine Repeat Sequence Variation and Somatic Instability in Huntington’s Disease: Drivers of Pathology? European Huntington's Disease Network 9th Plenary Meeting, The Hague, The Netherlands, 16-18 Sep 2016. (doi: 10.1136/jnnp-2016-314597.2)

Conference Proceedings

Higham, C., Wilcox, D., Haydon, D. , Cobbold, C. and Monckton, D. (2009) Modelling dynamic DNA in mytonic dystrophy. In: Sixth International Workshop on Computational Systems Biology, WCSB 2009, Aarhus, Denmark, 10-12 Jun 2009, pp. 63-66.