2025

Khan, A. et al. (2025) Swatting flies: Biting insects as non-invasive samplers for mammalian population genomics. Molecular Ecology, (doi: 10.1111/mec.17661) (PMID:39838904) (Early Online Publication)

Scahill, R. I. et al. (2025) Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington’s disease decades before clinical motor diagnosis. Nature Medicine, (doi: 10.1038/s41591-024-03424-6) (PMID:39825149) (Early Online Publication)

2024

Lee, J.-M. et al. (2024) Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease reveal shared and tissue-specific effects. bioRxiv, (doi: 10.1101/2024.06.10.597797)

Kim, K.-H. et al. (2024) Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington’s disease. Proceedings of the National Academy of Sciences, 121(16), e232292412. (doi: 10.1073/pnas.2322924121) (PMID:38607933)

Ruiz de Sabando, A., Ciosi, M. , Galbete, A., Cumming, S. A., Spanish HD Collaborative Group, , Monckton, D. G. and Ramos-Arroyo, M. A. (2024) Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype. European Journal of Human Genetics, (doi: 10.1038/s41431-024-01546-6)

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)

2022

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)

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)

2021

Channumsin, M., Ciosi, M. , Masiga, D., Auty, H. , Turner, C. M., Kilbride, E. and Mable, B. K. (2021) Blood meal analysis of tsetse flies (Glossina pallidipes: Glossinidae) reveals higher host fidelity on wild compared with domestic hosts. Wellcome Open Research, 6, 213. (doi: 10.12688/wellcomeopenres.16978.1) (PMCID:PMC8513123)

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)

2020

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)

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)

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)

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)

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)

2018

Channumsin, M., Ciosi, M. , Masiga, D., Turner, C. M. R. and Mable, B. K. (2018) Sodalis glossinidius presence in wild tsetse is only associated with presence of trypanosomes in complex interactions with other tsetse-specific factors. BMC Microbiology, 18(Supp1.), 163. (doi: 10.1186/s12866-018-1285-6) (PMID:30470184) (PMCID:PMC6251152)

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.

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]. [Research Reports or Papers]

Mugasa, C. M., Villinger, J., Gitau, J., Ndungu, N., Ciosi, M. and Masiga, D. (2018) Morphological re-description and molecular identification of Tabanidae (Diptera) in East Africa. ZooKeys, 796, pp. 117-144. (doi: 10.3897/zookeys.769.21144) (PMID:29988760) (PMCID:PMC6030178)

Lombaert, E., Ciosi, M. , Miller, N. J., Sappington, T. W., Blin, A. and Guillemaud, T. (2018) Colonization history of the western corn rootworm (Diabrotica virgifera virgifera) in North America: insights from random forest ABC using microsatellite data. Biological Invasions, 20(3), pp. 665-677. (doi: 10.1007/s10530-017-1566-2)

2017

Ndungu, N. N., Kiatoko, N., Ciosi, M. , Salifu, D., Nyansera, D., Masiga, D. and Raina, S. K. (2017) Identification of stingless bees (Hymenoptera: Apidae) in Kenya using Morphometrics and DNA barcoding. Journal of Apicultural Research, 56(4), pp. 341-353. (doi: 10.1080/00218839.2017.1327939)

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)

Isaac, C., Ciosi, M. , Hamilton, A., Scullion, K. M., Dede, P., Igbinosa, I. B., Nmorsi, O. P. G., Masiga, D. and Turner, C. M. R. (2016) Molecular identification of different trypanosome species and subspecies in tsetse flies of northern Nigeria. Parasites and Vectors, 9, 301. (doi: 10.1186/s13071-016-1585-3) (PMID:27216812) (PMCID:PMC4877947)

2014

Ciosi, M. , Masiga, D. K. and Turner, C. M.R. (2014) Laboratory colonisation and genetic bottlenecks in the tsetse fly Glossina pallidipes. PLoS Neglected Tropical Diseases, 8(2), e2697. (doi: 10.1371/journal.pntd.0002697)

2012

Bermond, G., Ciosi, M. , Lombaert, E., Blin, A., Boriani, M., Furlan, L., Toepfer, S. and Guillemaud, T. (2012) Secondary contact and admixture between independently invading populations of the Western corn rootworm, diabrotica virgifera virgifera in Europe. PLoS ONE, 7(11), e50129. (doi: 10.1371/journal.pone.0050129) (PMID:23189184) (PMCID:PMC3506547)

2011

Guillemaud, T., Ciosi, M. , Lombaert, E. and Estoup, A. (2011) Biological invasions in agricultural settings: insights from evolutionary biology and population genetics. Comptes Rendus Biologies, 334(3), pp. 237-246. (doi: 10.1016/j.crvi.2010.12.008)

Ciosi, M. , Miller, N.J., Toepfer, S., Estoup, A. and Guillemaud, T. (2011) Stratified dispersal and increasing genetic variation during the invasion of Central Europe by the western corn rootworm, Diabrotica virgifera virgifera. Evolutionary Applications, 4(1), pp. 57-70. (doi: 10.1111/j.1752-4571.2010.00133.x)

Forcioli, D., Merle, P.L., Caligara, C., Ciosi, M. , Muti, C., Francour, P., Cerrano, C. and Allemand, D. (2011) Symbiont diversity is not involved in depth acclimation in the Mediterranean sea whip Eunicella singularis. Marine Ecology Progress Series, 439, pp. 57-71. (doi: 10.3354/meps09314)

2010

Guillemaud, T., Beaumont, M.A., Ciosi, M. , Cornuet, J.-M. and Estoup, A. (2010) Inferring introduction routes of invasive species using approximate Bayesian computation on microsatellite data. Heredity, 104(1), pp. 88-99. (doi: 10.1038/hdy.2009.92)

2009

Ciosi, M. , Toepfer, S., Li, H., Haye, T., Kuhlmann, U., Wang, H., Siegfried, B. and Guillemaud, T. (2009) European populations of Diabrotica virgifera virgifera are resistant to aldrin, but not to methyl-parathion. Journal of Applied Entomology, 133(4), pp. 307-314. (doi: 10.1111/j.1439-0418.2008.01363.x)

2008

Ciosi, M. , Miller, N.J., Kim, K.S., Giordano, R., Estoup, A. and Guillemaud, T. (2008) Invasion of Europe by the western corn rootworm, Diabrotica virgifera virgifera: multiple transatlantic introductions with various reductions of genetic diversity. Molecular Ecology, 17(16), pp. 3614-3627. (doi: 10.1111/j.1365-294X.2008.03866.x)

2007

Miller, N.J., Ciosi, M. , Sappington, T.W., Ratcliffe, S.T., Spencer, J.L. and Guillemaud, T. (2007) Genome scan of Diabrotica virgifera virgifera for genetic variation associated with crop rotation tolerance. Journal of Applied Entomology, 131(6), pp. 378-385. (doi: 10.1111/j.1439-0418.2007.01190.x)

Articles

Khan, A. et al. (2025) Swatting flies: Biting insects as non-invasive samplers for mammalian population genomics. Molecular Ecology, (doi: 10.1111/mec.17661) (PMID:39838904) (Early Online Publication)

Scahill, R. I. et al. (2025) Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington’s disease decades before clinical motor diagnosis. Nature Medicine, (doi: 10.1038/s41591-024-03424-6) (PMID:39825149) (Early Online Publication)

Lee, J.-M. et al. (2024) Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease reveal shared and tissue-specific effects. bioRxiv, (doi: 10.1101/2024.06.10.597797)

Kim, K.-H. et al. (2024) Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington’s disease. Proceedings of the National Academy of Sciences, 121(16), e232292412. (doi: 10.1073/pnas.2322924121) (PMID:38607933)

Ruiz de Sabando, A., Ciosi, M. , Galbete, A., Cumming, S. A., Spanish HD Collaborative Group, , Monckton, D. G. and Ramos-Arroyo, M. A. (2024) Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype. European Journal of Human Genetics, (doi: 10.1038/s41431-024-01546-6)

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)

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)

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)

Channumsin, M., Ciosi, M. , Masiga, D., Auty, H. , Turner, C. M., Kilbride, E. and Mable, B. K. (2021) Blood meal analysis of tsetse flies (Glossina pallidipes: Glossinidae) reveals higher host fidelity on wild compared with domestic hosts. Wellcome Open Research, 6, 213. (doi: 10.12688/wellcomeopenres.16978.1) (PMCID:PMC8513123)

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)

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)

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)

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)

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)

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)

Channumsin, M., Ciosi, M. , Masiga, D., Turner, C. M. R. and Mable, B. K. (2018) Sodalis glossinidius presence in wild tsetse is only associated with presence of trypanosomes in complex interactions with other tsetse-specific factors. BMC Microbiology, 18(Supp1.), 163. (doi: 10.1186/s12866-018-1285-6) (PMID:30470184) (PMCID:PMC6251152)

Mugasa, C. M., Villinger, J., Gitau, J., Ndungu, N., Ciosi, M. and Masiga, D. (2018) Morphological re-description and molecular identification of Tabanidae (Diptera) in East Africa. ZooKeys, 796, pp. 117-144. (doi: 10.3897/zookeys.769.21144) (PMID:29988760) (PMCID:PMC6030178)

Lombaert, E., Ciosi, M. , Miller, N. J., Sappington, T. W., Blin, A. and Guillemaud, T. (2018) Colonization history of the western corn rootworm (Diabrotica virgifera virgifera) in North America: insights from random forest ABC using microsatellite data. Biological Invasions, 20(3), pp. 665-677. (doi: 10.1007/s10530-017-1566-2)

Ndungu, N. N., Kiatoko, N., Ciosi, M. , Salifu, D., Nyansera, D., Masiga, D. and Raina, S. K. (2017) Identification of stingless bees (Hymenoptera: Apidae) in Kenya using Morphometrics and DNA barcoding. Journal of Apicultural Research, 56(4), pp. 341-353. (doi: 10.1080/00218839.2017.1327939)

Isaac, C., Ciosi, M. , Hamilton, A., Scullion, K. M., Dede, P., Igbinosa, I. B., Nmorsi, O. P. G., Masiga, D. and Turner, C. M. R. (2016) Molecular identification of different trypanosome species and subspecies in tsetse flies of northern Nigeria. Parasites and Vectors, 9, 301. (doi: 10.1186/s13071-016-1585-3) (PMID:27216812) (PMCID:PMC4877947)

Ciosi, M. , Masiga, D. K. and Turner, C. M.R. (2014) Laboratory colonisation and genetic bottlenecks in the tsetse fly Glossina pallidipes. PLoS Neglected Tropical Diseases, 8(2), e2697. (doi: 10.1371/journal.pntd.0002697)

Bermond, G., Ciosi, M. , Lombaert, E., Blin, A., Boriani, M., Furlan, L., Toepfer, S. and Guillemaud, T. (2012) Secondary contact and admixture between independently invading populations of the Western corn rootworm, diabrotica virgifera virgifera in Europe. PLoS ONE, 7(11), e50129. (doi: 10.1371/journal.pone.0050129) (PMID:23189184) (PMCID:PMC3506547)

Guillemaud, T., Ciosi, M. , Lombaert, E. and Estoup, A. (2011) Biological invasions in agricultural settings: insights from evolutionary biology and population genetics. Comptes Rendus Biologies, 334(3), pp. 237-246. (doi: 10.1016/j.crvi.2010.12.008)

Ciosi, M. , Miller, N.J., Toepfer, S., Estoup, A. and Guillemaud, T. (2011) Stratified dispersal and increasing genetic variation during the invasion of Central Europe by the western corn rootworm, Diabrotica virgifera virgifera. Evolutionary Applications, 4(1), pp. 57-70. (doi: 10.1111/j.1752-4571.2010.00133.x)

Forcioli, D., Merle, P.L., Caligara, C., Ciosi, M. , Muti, C., Francour, P., Cerrano, C. and Allemand, D. (2011) Symbiont diversity is not involved in depth acclimation in the Mediterranean sea whip Eunicella singularis. Marine Ecology Progress Series, 439, pp. 57-71. (doi: 10.3354/meps09314)

Guillemaud, T., Beaumont, M.A., Ciosi, M. , Cornuet, J.-M. and Estoup, A. (2010) Inferring introduction routes of invasive species using approximate Bayesian computation on microsatellite data. Heredity, 104(1), pp. 88-99. (doi: 10.1038/hdy.2009.92)

Ciosi, M. , Toepfer, S., Li, H., Haye, T., Kuhlmann, U., Wang, H., Siegfried, B. and Guillemaud, T. (2009) European populations of Diabrotica virgifera virgifera are resistant to aldrin, but not to methyl-parathion. Journal of Applied Entomology, 133(4), pp. 307-314. (doi: 10.1111/j.1439-0418.2008.01363.x)

Ciosi, M. , Miller, N.J., Kim, K.S., Giordano, R., Estoup, A. and Guillemaud, T. (2008) Invasion of Europe by the western corn rootworm, Diabrotica virgifera virgifera: multiple transatlantic introductions with various reductions of genetic diversity. Molecular Ecology, 17(16), pp. 3614-3627. (doi: 10.1111/j.1365-294X.2008.03866.x)

Miller, N.J., Ciosi, M. , Sappington, T.W., Ratcliffe, S.T., Spencer, J.L. and Guillemaud, T. (2007) Genome scan of Diabrotica virgifera virgifera for genetic variation associated with crop rotation tolerance. Journal of Applied Entomology, 131(6), pp. 378-385. (doi: 10.1111/j.1439-0418.2007.01190.x)

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]. [Research Reports or Papers]

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)