Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.

Objectives and Achievements of the HUMN project on its 26th Anniversary
Fenech, Michael, Holland, Nina, Zeiger, Errol, Chang, Peter Wushou, Kirsch-Volders, Micheline, Bolognesi, Claudia, Stopper, Helga, Knudsen, Lisbeth E., Knasmueller, Siegfried, Nersesyan, Armen, Thomas, Philip, Dhillon, Varinderpal, Deo, Permal, Franzke, Bernhard, Andreassi, Maria-Grazia, Laffon, Blanca, Wagner, Karl-Heinz, Norppa, Hannu, da Silva, Juliana, Volpi, Emanuela, Wilkins, Ruth and Bonassi, Stefano 2024. Objectives and Achievements of the HUMN project on its 26th Anniversary. Mutation Research/Reviews in Mutation Research. 794 108511. https://doi.org/10.1016/j.mrrev.2024.108511

Single-telomere length analysis (STELA) identifies accelerated genome ageing in adolescents with severe obesity
Volpi, E. 2024. Single-telomere length analysis (STELA) identifies accelerated genome ageing in adolescents with severe obesity. UKEMS 2024. Bath 07 - 10 Jul 2024 United Kingdom Environmental Mutagen Society.

Preprint: A foggy minefield: Experiences of regulation among developers of AI and other medical software in the UK, survey and focus group study
Henry W.W. Potts, Paulina Bondaronek, Ana Luisa Neves, Alex Bolotov, Lucie Burgess, Jona Shehu, Gabriella Spinellli, Emanuela Volpi and Austen El-Osta 2024. Preprint: A foggy minefield: Experiences of regulation among developers of AI and other medical software in the UK, survey and focus group study. medRxiv. https://doi.org/10.1101/2024.08.25.24312551

MD-1 downregulation is associated with reduced cell surface CD180 expression in CLL
Edwards, K., Manoussaka, M., Sayed, U., Tsertsvadze, T., De Deyn, L., Nathwani, A., Gribben, J.G., Krysov, S., Volpi, E., Lydyard, P. and Porakishvili, N. 2024. MD-1 downregulation is associated with reduced cell surface CD180 expression in CLL. Leukemia Research. 143 107540. https://doi.org/10.1016/j.leukres.2024.107540

Nutrigenomics-guided lifestyle intervention programmes: A critical scoping review with directions for future research
Aljasir, S., Eid, N., Volpi, E. and Tewfik, I. 2024. Nutrigenomics-guided lifestyle intervention programmes: A critical scoping review with directions for future research. Clinical Nutrition ESPEN. Advanced online publication. https://doi.org/10.1016/j.clnesp.2024.10.149

The buccal micronucleus cytome assay: New horizons for its implementation in human studies
Fenech, M., Knasmueller, S., Nersesyan, A., Bolognesi, C., Wultsch, G., Schunck, C., Volpi, E. and Bonassi, S. 2024. The buccal micronucleus cytome assay: New horizons for its implementation in human studies. Mutation Research: Genetic Toxicology and Environmental Mutagenesis. 894 503724. https://doi.org/10.1016/j.mrgentox.2023.503724

Different Conversations Podcast: Obesity as a genotoxic environment
Volpi, E. 2023. Different Conversations Podcast: Obesity as a genotoxic environment. University of Westminster.

Biomonitoring and predictive modelling of genomic instability in childhood obesity
Usman, M., Woloshynowych, M., Carrilho Britto, J., Bilkevic, I., Glassar, B., Chapman, S., Ford-Adams, M., Desai, A., Bain, M., Tewfik, I. and Volpi, E. 2023. Biomonitoring and predictive modelling of genomic instability in childhood obesity. Spanish Journal of Environmental Mutagenesis and Genomics. 27 (1), p. 169.

The role of CD180 in hematological malignancies and inflammatory disorders
Edwards, K., Lydyard, P., Kulikova, N., Tsertsvadze, T., Volpi, E.V., Chiorazzi, N. and Porakishvili, N. 2023. The role of CD180 in hematological malignancies and inflammatory disorders. Molecular Medicine. 29, p. 97 https://molmed.biomedcentral.com/articles/10.1186/s10020-023-00682-x. https://doi.org/10.1186/s10020-023-00682-x

A correlational analysis of COVID-19 incidence and mortality and urban determinants of vitamin D status across the London boroughs
Borna, M., Woloshynowych, M., Schiano-Phan, R., Volpi, E. and Usman, M. 2022. A correlational analysis of COVID-19 incidence and mortality and urban determinants of vitamin D status across the London boroughs. Scientific Reports. 12 (1) 11741. https://doi.org/10.1038/s41598-022-15664-y

The Digital Health Evidence Generator
Bolotov, A., Volpi, E. and Chan You Fee, D. 2022. The Digital Health Evidence Generator. University of Westminster. https://doi.org/10.34737/w6866

Obesity as a genotoxic environment: how biomonitoring and predictive modelling of genomic instability in childhood obesity provide opportunities for early intervention
Volpi, E. 2022. Obesity as a genotoxic environment: how biomonitoring and predictive modelling of genomic instability in childhood obesity provide opportunities for early intervention. 44th UKEMS Conference 2022. Royal Hall, Harrogate 03 - 06 Jul 2022

Expression patterns of CD180 in the lymph nodes of patients with chronic lymphocytic leukaemia
Edwards, K., Volpi, E., Lydyard, P., Zaitseva, K., Sayed, U., Krysov, S., Gribben, J., Nathwani, D.A. and Porakishvili, N. 2021. Expression patterns of CD180 in the lymph nodes of patients with chronic lymphocytic leukaemia. British Journal of Haematology. 195 (2), pp. e131-e134. https://doi.org/10.1111/bjh.17680

Obesity, oxidative DNA damage and vitamin D as predictors of genomic instability in children and adolescents
Usman, M., Woloshynowych, M., Britto, J.C., Bilkevic, I., Glassar, B., Chapman, S., Ford-Adams, M.E., Desai, A., Bain, M., Tewfik, I. and Volpi, E. 2021. Obesity, oxidative DNA damage and vitamin D as predictors of genomic instability in children and adolescents. International Journal of Obesity. 45, p. 2095–2107. https://doi.org/10.1038/s41366-021-00879-2

Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain
Alić, I., Goh, P.A., Murray, A., Portelius, E., Gkanatsiou, E., Gough, G., Mok, K.Y., Koschut, D., Brunmeir, R., Yeap, Y.J., O'Brien, N.L., Groet, J., Shao, X,, Havlicek, S., Dunn, N.R., Kvartsberg, H., Brinkmalm, G., Hithersay, R,, Startin, C., Hamburg, S., Phillips, M., Pervushin, K., Turmaine, M., Wallon, D., Rovelet-Lecrux, A., Soininen, H., Volpi, E., Martin, J.E., Foo, J.N., Becker, D.L., Rostagno, A., Ghiso, J., Krsnik, Ž., Šimić, G., Kostović, I., Mitrečić, D., LonDownS Consortium, Francis, P.T., Blennow, K., Strydom, A., Hardy, J., Zetterberg, H. and Nižetić, D. 2021. Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain. Molecular Psychiatry. 26, p. 5766–5788. https://doi.org/10.1038/s41380-020-0806-5

Intact Sample Analysis
Warford, A. and Volpi, E. 2019. Intact Sample Analysis. in: Warford, A. and Presneau, Nadège (ed.) Molecular Diagnostics Oxford University Press.

PO-018 Acquired DNA damage in adolescent obesity – a promoter and predictor of cancer?
Usman, M. and Volpi, E.V. 2018. PO-018 Acquired DNA damage in adolescent obesity – a promoter and predictor of cancer? ESMO Open. 3 (Supplement 2), pp. A27-A28. https://doi.org/10.1136/esmoopen-2018-eacr25.66

In vivo modeling of human neuron dynamics and Down syndrome
Raquel Real, Manuel Peter, Antonio Trabalza, Shabana Khan, Mark Smith, Joana Dopp, Samuel Barnes, Ayiba Momoh, Alessio Strano, Volpi, E., Graham W Knott, F. J. Livesey and Vincenzo De Paola 2018. In vivo modeling of human neuron dynamics and Down syndrome. Apollo - University of Cambridge Repository. 362 (6416), p. eaau1810 eaau1810. https://doi.org/10.17863/cam.46476

Acquired DNA damage in adolescent obesity – a promoter and predictor of cancer?
Usman, M. and Volpi, E. 2018. Acquired DNA damage in adolescent obesity – a promoter and predictor of cancer? European Association for Cancer Research 25th Congress. Amsterdam 01 Jul 2018 European Society for Medical Oncology (ESMO). https://doi.org/10.1136/esmoopen-2018-EACR25.63

DNA damage in obesity: Initiator, promoter and predictor of cancer
Usman, M. and Volpi, E. 2018. DNA damage in obesity: Initiator, promoter and predictor of cancer. Mutation Research/Reviews in Mutation Research. 778, pp. 23-37. https://doi.org/10.1016/j.mrrev.2018.08.002

Evaluation of oxidative DNA damage, genome instability and accelerated genomic ageing in childhood obesity
Usman, M. and Volpi, E. 2017. Evaluation of oxidative DNA damage, genome instability and accelerated genomic ageing in childhood obesity. The Human Genome in Healthcare - The Genetics Society. The Royal Society 23 - 24 Nov 2017

In situ hybridization: key concepts and applications
Warford, A. and Volpi, E. 2017. In situ hybridization: key concepts and applications. in: Orchard, G.R. and Nation, B. (ed.) Histopathology Oxford Oxford University Press. pp. 298-317

Evaluating Inflammatory and Genotoxic Consequences of Adiposity in Adolescents: a Non-Invasive Approach
Usman, M. and Volpi, E. 2017. Evaluating Inflammatory and Genotoxic Consequences of Adiposity in Adolescents: a Non-Invasive Approach. The 12th International Conference and 5th Asian Congress on Environmental Mutagens. Korea 12 - 16 Nov 2017 Korean Environmental Mutagen Society.

Genome Instability in Childhood Obesity – a potential role for bariatric surgery in cancer prevention?
Usman, M. and Volpi, E. 2017. Genome Instability in Childhood Obesity – a potential role for bariatric surgery in cancer prevention? Severe Paediatric Obesity: Current Medical and Surgical Management Paradigms - A Global Perspective. London 18 Jul 2017 International Consortium of Adolescent Bariatric Surgeons (ICABS).

Using virtual reality to prepare Bioscience students for practical classes
Coleman, S.K., Volpi, E. and Smith, C.L. 2017. Using virtual reality to prepare Bioscience students for practical classes. 16th Westminster Symposium Innovate!. University of Westminster, London 22 - 22 Jun 2017

Fluorescence in situ Hybridization (FISH): challenges and opportunities in the post-genomic era
Volpi, E. 2017. Fluorescence in situ Hybridization (FISH): challenges and opportunities in the post-genomic era. Applications of in situ hybridisation in research and disease. Cancer Research UK Cambridge Institute, Cambridge 17 - 18 May 2017

Whole genome analysis of a schistosomiasis-transmitting freshwater snail
Adema, C.M., Hillier, L.W., Jones, C.S., Loker, E.S., Knight, M., Minx, P., Oliveira, G., Raghavan, N., Shedlock, A., Rodrigues do Amaral, L., Arican-Goktas, H.D., Assis, A.G., Baba, E.H., Baron, O.L., Bayne, C.J., Bickham-Wright, U., Biggar, K.K., Blouin, M., Bonning, B.C., Botka, C., Bridger, J.M., Buckley, K.M., Buddenborg, S.K., Caldeira, R.L., Carleton, J., Carvalho, O.S., Castillo, M.G., Chalmers, I.W., Christensens, M., Clifton, S., Cosseau, C., Coustau, C., Cripps, R.M., Cuesta-Astroz, Y., Cummins, S.F., di Stephano, L., Dinguirard, N., Duval, D., Emrich, S., Feschotte, C., Feyereisen, R., FitzGerald, P., Fronick, C., Fulton, L., Galinier, R., Gave, S.G., Geusz, M., Geyer, K.K., Giraldo-Calderón, G.I., Gomes, M.D.S., Gordy, M.A., Gourbal, B., Grunau, C., Hanington, P.C., Hoffmann, K.F., Hughes, D., Humphries, J., Jackson, D.J., Jannotti-Passos, L.K., Jeremias, W.D.J., Jobling, S., Kamel, B., Kapusta, A., Kaur, S., Koene, J.M., Kohn, A.B., Lawson, D., Lawton, S.P., Liang, D., Limpanont, Y., Liu, S., Lockyer, A.E., Lovato, T.L., Ludolf, F., Magrini, V., McManus, D.P., Medina, M., Misra, M., Mitta, G., Mkoji, G.M., Montague, M.J., Montelongo, C., Moroz, L.L., Munoz-Torres, M.C., Niazi, U., Noble, L.R., Oliveira,, F.S., Pais, F.B., Papenfuss, A.T., Peace, R., Pena, J.J., Pila, E.A., Quelais, T., Raney, B.J., Rast, J.P., Rollinson, D., Rosse, I.C., Rotgans, B., Routledge, E.J., Ryan, K.M., Scholte, L.L.S., Storey, K.B., Swain, M., Tennessen, J.A., Tomlinson, C., Trujillo, D.L., Volpi, E., Walker, A.J., Wang, T., Wannaporn, I., Warren, W.C., Wu, X.J., Yoshino, T.P., Yusuf, M., Zhang, S.M., Zhao, M. and Wilson, R.K. 2017. Whole genome analysis of a schistosomiasis-transmitting freshwater snail. Nature Communications. 8, p. 15451 15451. https://doi.org/10.1038/ncomms15451

Genome instability in childhood obesity: A conceptual framework for an assessment, intervention and monitoring programme of inflammation and DNA damage in paediatric obesity
Usman, M., Tewfik, I. and Volpi, E. 2017. Genome instability in childhood obesity: A conceptual framework for an assessment, intervention and monitoring programme of inflammation and DNA damage in paediatric obesity. International Journal of Food, Nutrition and Public Health. 9 (1), pp. 1-12.

Formamide-free Fluorescence in situ Hybridization (FISH)
Volpi, E. 2017. Formamide-free Fluorescence in situ Hybridization (FISH). in: Liehr, T. (ed.) Fluorescence in situ Hybridization (FISH) - Application Guide Berlin Springer.

Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2
Moralli, D., Nudel, R., Chan, M.T.M., Green, C.M., Volpi, E., Benítez-Burraco, A., Newbury, D.F. and García-Bellido, P. 2015. Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2 . Molecular Cytogenetics. 8 36. https://doi.org/10.1186/s13039-015-0148-1

Nanofluidics to Enhance Single Molecule DNA Imaging: Detecting Genomic Structural Variation in Humans
David L.V. Bauer, Rodolphe M. Marie, Jonas N. Pedersen, Kristian H. Rasmussen, Mohammed Yusuf, Emanuela Volpi, Henrik Flyvbjerg, Anders Kristensen and Kalim U. Mir 2014. Nanofluidics to Enhance Single Molecule DNA Imaging: Detecting Genomic Structural Variation in Humans. Biophysical Journal. 106 (2, supplement 1), p. 395A. https://doi.org/10.1016/j.bpj.2013.11.2229

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy
Halford, S., Liew, G., Mackay, D.S., Sergouniotis, P.I., Holt, R., Broadgate, S., Volpi, E., Ocaka, L., Robson, A.G., Holder, G.E., Moore, A.T., Michaelides, M. and Webster, A.R. 2014. Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy. Ophtalmology. 121 (6), pp. 1174-1184. https://doi.org/10.1016/j.ophtha.2013.11.042

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder
Babbs, C., Lloyd, D., Pagnamenta, A.T., Twiggs, S.R., Green, J., McGowan, S.J., Mirza, G., Naples, R., Sharma, V.P., Volpi, E., Buckle, V.J., Wall, S.A., Knight SJ; International Molecular Genetic Study of Autism Consortium (IMGSAC), Parr, J.R. and Wilkie, A.O. 2014. De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder. Journal of Medical Genetics. 51 (11), pp. 737-747. https://doi.org/10.1136/jmedgenet-2014-102582

Comparative study of artificial chromosome centromeres in human and murine cells
Moralli, D., Jefferson, A., Volpi, E. and Larin Monaco, Z. 2013. Comparative study of artificial chromosome centromeres in human and murine cells. European Journal of Human Genetics. 21, pp. 948-956. https://doi.org/10.1038/ejhg.2012.296

Fully Streched Single DNA Molecules in a Nanofluidic Chip Show Large-Scale Structural Variation
Jonas N. Pedersen, Rodolphe Marie, David L.V. Bauer, Kristian H. Rasmussen, Mohammed Yusuf, Emanuela V. Volpi, Anders Kristensen, Kalim U. Mir and Henrik Flyvbjerg 2013. Fully Streched Single DNA Molecules in a Nanofluidic Chip Show Large-Scale Structural Variation. Biophysical Journal. 104 (2, Supplement 1,), p. 175A. https://doi.org/10.1016/j.bpj.2012.11.986

Chromosomes and nuclear organisation in ICF syndrome
Volpi, E. 2013. Chromosomes and nuclear organisation in ICF syndrome. in: Yurov, Y.B., Vorsanova, S.G. and Iourov, I.Y. (ed.) Human interphase chromosomes: biomedical aspects New York Springer. pp. 107-121

Integrated view of genome structure and sequence of a single DNA molecule in a nanofluidic device.
Marie, R., Pedersen, J.N., Bauer, D.L., Rasmussen, K.H., Yusuf, M., Volpi, E., Flyvbjerg, H., Kristensen, A. and Mir, K.U. 2013. Integrated view of genome structure and sequence of a single DNA molecule in a nanofluidic device. Proceedings of the National Academy of Sciences of the United States of America. 110 (13), pp. 4893-4898. https://doi.org/10.1073/pnas.1214570110

Comprehensive cytogenomic profile of the in vitro neuronal model SH-SY5Y
Yusuf, M., Leung, K., Morris, K.J. and Volpi, E. 2013. Comprehensive cytogenomic profile of the in vitro neuronal model SH-SY5Y. Neurogenetics. 14 (1), pp. 63-70. https://doi.org/10.1007/s10048-012-0350-9

Structures of lysenin reveal a shared evolutionary origin for pore-forming proteins and its mode of sphingomyelin recognition
De Colibus, L., Sonnen, A.F.-P., Morris, K.J., Siebert, C.A., Abrusci, P., Plitzko, J., Hodnik, V., Leippe, M., Volpi, E., Anderluh, G. and Gilbert, R.J.C. 2012. Structures of lysenin reveal a shared evolutionary origin for pore-forming proteins and its mode of sphingomyelin recognition. Structure. 20 (9), pp. P1498-1507. https://doi.org/10.1016/j.str.2012.06.011

High-resolution fish on DNA fibers for low-copy repeats genome architecture studies.
Molina, O., Blanco, J., Anton, E., Vidal, F. and Volpi, E.V. 2012. High-resolution fish on DNA fibers for low-copy repeats genome architecture studies. Genomics. 100 (6), pp. 380-386. https://doi.org/10.1016/j.ygeno.2012.08.007

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3
Pagnamenta, A.T., Holt, R., Yusuf, M., Pinto, D., Wing, K., Betancur, C., Scherer, S.W., Volpi, E.V. and Monaco, A.P. 2011. A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3. Journal of Neurodevelopmental Disorders. 3, pp. 124-131. https://doi.org/10.1007/s11689-011-9076-5

Characterization of a dominant cone degeneration in a green fluorescent protein-reporter mouse with disruption of Loci associated with human dominant retinal dystrophy.
Lipinski, D.M., Yusuf, M., Barnard, A.R., Damant, C., Charbel Issa, P., Singh, M.S., Lee, E., Davies, W.L., Volpi, E.V. and MacLaren R.E. 2011. Characterization of a dominant cone degeneration in a green fluorescent protein-reporter mouse with disruption of Loci associated with human dominant retinal dystrophy. Investigative Ophthalmology & Visual Science. 52 (9), pp. 6617-6623. https://doi.org/10.1167/iovs.11-7932

Perforin activity at membranes leads to invaginations and vesicle formation
Praper, T., Sonnen, A.F., Kladnik, A., Andrighetti, A.O., Viero, G., Morris, K.J., Volpi, E.V., Lunelli, L., Dalla Serra, M., Froelich, C.J., Gilbert, R.J. and Anderluh, G. 2011. Perforin activity at membranes leads to invaginations and vesicle formation. Proceedings of the National Academy of Sciences of the United States of America. 108 (52). https://doi.org/10.1073/pnas.1107473108

Combining M-FISH and Quantum Dot technology for fast chromosomal assignment of transgenic insertions
Yusuf, M., Bauer, D.L.V., Lipinski, D.M., MacLaren, R.E., Wade-Martins, R., Mir, K.U. and Volpi, E. 2011. Combining M-FISH and Quantum Dot technology for fast chromosomal assignment of transgenic insertions. BMC Biotechnology. 11, pp. 121-131. https://doi.org/10.1186/1472-6750-11-121

An improved technique for chromosomal analysis of human ES and iPS cells.
Moralli, D., Yusuf, M., Mandegar, M.A., Khoja, S., Monaco, Z.L. and Volpi, E.V. 2011. An improved technique for chromosomal analysis of human ES and iPS cells. Stem Cell Reviews. 7 (2), pp. 471-477. https://doi.org/10.1007/s12015-010-9224-4

Functional human artificial chromosomes are generated and stably maintained in human embryonic stem cells
Mandegar, M.A., Moralli, D., Khoja, S., Cowley, S., Chan, D.Y.L., Yusuf, M., Mukherjee, S., Blundell, M.P., Volpi, E., Thrasher, A.J., James, W. and Monaco, Z.L. 2011. Functional human artificial chromosomes are generated and stably maintained in human embryonic stem cells. Human Molecular Genetics. 20 (15), pp. 2905-2913. https://doi.org/10.1093/hmg/ddr144

Fluorescence in situ hybridization (FISH) for genomic investigations in rat
Jefferson, A. and Volpi, E.V. 2010. Fluorescence in situ hybridization (FISH) for genomic investigations in rat. in: Bridger, J. and Volpi, E. (ed.) Fluorescence in situ Hybridization (FISH). Methods in Molecular Biology (Methods and Protocols), vol 659 Humana Press. pp. 409-426

A novel three-dimensional culture system allows prolonged culture of functional human granulosa cells and mimics the ovarian environment.
Kossowska-Tomaszczuk, K., Pelczar, P., Güven, S., Kowalski, J., Volpi, E., De Geyter, C. and Scherberich, A. 2010. A novel three-dimensional culture system allows prolonged culture of functional human granulosa cells and mimics the ovarian environment. Tissue Engineering Part A. 16 (6), pp. 2063-73. https://doi.org/10.1089/ten.tea.2009.0684

Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis.
Ashrafian, H., O'Flaherty, L., Adam, J., Steeples, V., Chung, Y.L., East, P., Vanharanta, S., Lehtonen, H., Nye, E., Hatipoglu, E., Miranda, M., Howarth, K., Shukla, D., Pollard, P.J. and Volpi, E. 2010. Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis. Cancer Research. 70 (22), pp. 9153-9165. https://doi.org/10.1158/0008-5472.can-10-1949

Altered intra-nuclear organisation of heterochromatin and genes in ICF syndrome.
Jefferson, A., Colella, S., Moralli, D., Wilson, N., Yusuf, M., Gimelli, G., Ragoussis, J. and Volpi, E.V. 2010. Altered intra-nuclear organisation of heterochromatin and genes in ICF syndrome. PLoS ONE. 5 (6) e11364. https://doi.org/10.1371/journal.pone.0011364

Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.
Newbury, D.F., Warburton, P.C., Wilson, N., Bacchelli, E., Carone, S., International Molecular Genetic Study of Autism Consortium, Lamb, J.A., Maestrini, E., Monaco, A.P. and Volpi, E. 2009. Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment. American Journal of Medical Genetics Part A. 149A (4), pp. 588-597. https://doi.org/10.1002/ajmg.a.32704

HAC stability in murine cells is influenced by nuclear localization and chromatin organization.
Moralli, D., Chan, D.Y., Jefferson, A., Volpi, E.V. and Monaco, Z.L. 2009. HAC stability in murine cells is influenced by nuclear localization and chromatin organization. BMC Cell Biology. 10 18. https://doi.org/10.1186/1471-2121-10-18

Severe insulin resistance and intrauterine growth deficiency associated with haploin sufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism
Suliman, S.G., Stanik, J., McCulloch, L.J., Wilson, N., Edghill, E.L., Misovicova, N., Gasperikova, D., Sandrikova, V., Elliott, K.S., Barak, L., Ellard, S., Volpi, E.V., Klimes, I. and Gloyn, A.L. 2009. Severe insulin resistance and intrauterine growth deficiency associated with haploin sufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism. Diabetes. 58 (12), pp. 2954-2961. https://doi.org/10.2337/db09-0787

FISH glossary: an overview of the fluorescence in situ hybridization technique.
Volpi, E.V. and Bridger, J.M. 2008. FISH glossary: an overview of the fluorescence in situ hybridization technique. BioTechniques. 45 (4), pp. 385-409. https://doi.org/10.2144/000112811

Endothelial Nox2 overexpression potentiates vascular oxidative stress and hemodynamic response to angiotensin II: studies in endothelial-targeted Nox2 transgenic mice.
Bendall, J.K., Rinze, R., Adlam, D., Tatham, A.L., de Bono, J., Wilson, N., Volpi, E. and Channon, K.M. 2007. Endothelial Nox2 overexpression potentiates vascular oxidative stress and hemodynamic response to angiotensin II: studies in endothelial-targeted Nox2 transgenic mice. Circulation Research. 100, pp. 1016-1025. https://doi.org/10.1161/01.res.0000263381.83835.7b

Replication profile of PCDH11X and PCDH11Y, a gene pair located in the non-pseudoautosomal homologous region Xq21.3/Yp11.2.
Wilson, N.D., Ross, L.J., Close, J., Mott, R., Crow, T.J. and Volpi, E.V. 2007. Replication profile of PCDH11X and PCDH11Y, a gene pair located in the non-pseudoautosomal homologous region Xq21.3/Yp11.2. Chromosome Research. 15, pp. 485-498. https://doi.org/10.1007/s10577-007-1153-y

Search for neuroblastoma loci: characterization of tumor cell lines that could facilitate their positional cloning.
Romani, M., Muresu, R., Volpi, E.V., Rozzo, C., Marchi, J.M. and Casciano, I. 2007. Search for neuroblastoma loci: characterization of tumor cell lines that could facilitate their positional cloning. Journal of Neuro-oncology . 31, pp. 41-47. https://doi.org/10.1023/a:1005725112688

PCDH11 is X/Y homologous in Homo sapiens but not in Gorilla gorilla and Pan troglodytes.
Wilson, N.D., Ross, L.J., Crow, T.J. and Volpi, E.V. 2006. PCDH11 is X/Y homologous in Homo sapiens but not in Gorilla gorilla and Pan troglodytes. Cytogenetic and Genome Research. 114, pp. 137-139. https://doi.org/10.1159/000093329

The leukocyte receptor complex in chicken is characterized by massive expansion and diversification of immunoglobulin-like Loci.
Laun, K., Coggill, P., Palmer, S., Sims, S., Ning, Z., Ragoussis, J., Volpi, E., Wilson, N., Beck, S., Ziegler, A. and Volz, A. 2006. The leukocyte receptor complex in chicken is characterized by massive expansion and diversification of immunoglobulin-like Loci. PLoS Genetics. 2 (5) e73. https://doi.org/10.1371/journal.pgen.0020073

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.
Bowl, M.R., Nesbit, M.A., Harding, B., Levy, E., Jefferson, A., Volpi, E.V., Rizzoti, K., Lovell-Badge, R., Schlessinger, D., Whyte, M.P. and Thakker, R.V. 2005. An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. Journal of Clinical Investigation. 115 (10), pp. 2822-2831. https://doi.org/10.1172/jci24156

Unexpected complexity in the haplotypes of commonly used inbred strains of laboratory mice
Yalcin, B., Fullerton, J., Miller, S., Keays, D.A., Brady, S., Bhomra, A., Jefferson, A., Volpi, E., Copley, R.R., Flint, J. and Mott, R. 2004. Unexpected complexity in the haplotypes of commonly used inbred strains of laboratory mice. Proceedings of the National Academy of Sciences of the United States of America. https://doi.org/10.1073/pnas.0401189101

Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region
Davies, S.J., Wise, C., Venkatesh, B., Mirza, G., Jefferson, A., Volpi, E.V. and Ragoussis, J. 2004. Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region. Cytogenetic and Genome Research. 105, pp. 47-53. https://doi.org/10.1159/000078008

Cohesion, but not too close
Volpi, E.V., Sheer, D. and Uhlmann, F. 2001. Cohesion, but not too close. Current Biology. 11 (10), p. R378. https://doi.org/10.1016/s0960-9822(01)00212-3

Large-scale chromatin organization of the major histocompatibility complex and other regions of human chromosome 6 and its response to interferon in interphase nuclei.
Volpi, E.V., Chevret, E., Jones, T., Vatcheva, R., Williamson, J., Beck, S., Campbell, R.D., Goldsworthy, M., Powis, S.H., Ragoussis, J., Trowsdale, J. and Sheer, D. 2000. Large-scale chromatin organization of the major histocompatibility complex and other regions of human chromosome 6 and its response to interferon in interphase nuclei. Journal of Cell Science. 113 (Pt 9), pp. 1565-1576. https://doi.org/10.1242/jcs.113.9.1565

Mini review: form and function in the human interphase chromosome
Chevret, E., Volpi, E.V. and Sheer, D. 2000. Mini review: form and function in the human interphase chromosome. Cytogenetics and Cell Genetics. 90 (1-2), pp. 13-21. https://doi.org/10.1159/000015654

Nucleotide sequence and chromosomal mapping of the 5S rDNA repeat of the crustacean Proasellus coxalis.
Pelliccia, F., Barzotti, R., Volpi, E.V., Bucciarelli, E. and Rocchi, A. 1998. Nucleotide sequence and chromosomal mapping of the 5S rDNA repeat of the crustacean Proasellus coxalis. Genome. 41 (1), pp. 129-123. https://doi.org/10.1139/g97-110

Numerical abnormalities of chromosomes 1 and 10 in endometrial adenocarcinoma: fluorescence in situ hybridization analysis of 23 archival paraffin-embedded samples.
Muresu, R., Cossu, A., Scarpa, A.M., Volpi, E.V., Rocca, P.C., Pintus, A., Tibiletti, M.G., Tanda, F., Pirastu, M. and Massarelli, G. 1998. Numerical abnormalities of chromosomes 1 and 10 in endometrial adenocarcinoma: fluorescence in situ hybridization analysis of 23 archival paraffin-embedded samples. Cancer Genetics and Cytogenetics. 107 (1), pp. 37-42. https://doi.org/10.1016/s0165-4608(98)00059-4

An integrated physical and genetic map spanning chromosome band 10q24.
Gray, I.C., Fallowfield, J., Ford, S., Nobile, C., Volpi, E.V. and Spurr, N.K. 1997. An integrated physical and genetic map spanning chromosome band 10q24. Genomics. 43 (1), pp. 85-88. https://doi.org/10.1006/geno.1997.4809

Detailed physical analysis of a 1.5-megabase YAC contig containing the MXI1 and ADRA2A genes.
Manca, A., Volpi, E.V., Laficara, F., Muresu, R., Gray, I.C., Spurr, N.K. and Nobile, C. 1997. Detailed physical analysis of a 1.5-megabase YAC contig containing the MXI1 and ADRA2A genes. Genomics. 45 (2), pp. 407-411. https://doi.org/10.1006/geno.1997.4924

Taxonomic and biogeographic analysis of the Proasellus coxalis-group (Crustacea, Isopoda, Asellidae) in Sicily, with description of Proasellus montalentii n.sp.
Stoch, F., Valentino, F. and Volpi, E. 1996. Taxonomic and biogeographic analysis of the Proasellus coxalis-group (Crustacea, Isopoda, Asellidae) in Sicily, with description of Proasellus montalentii n.sp. Hydrobiologia. 317, pp. 247-258. https://doi.org/10.1007/bf00036474

More detailed characterization of some of the HL60 karyotypic features by fluorescence in situ hybridization.
Volpi, E.V., Vatcheva, R., Labella, T. and Gan, S.U. 1996. More detailed characterization of some of the HL60 karyotypic features by fluorescence in situ hybridization. Cancer Genetics and Cytogenetics. 87 (2), pp. 103-106. https://doi.org/10.1016/0165-4608(95)00214-6

Molecular and genetic studies on the region of translocation and duplication in the neuroblastoma cell line NGP at the 1p36.13-p36.32 chromosomal site
Casciano, I., Marchi, J.V.M., Muresu, R., Volpi, E.V., Rozzo, C., Opdenakker, G. and Romani, M. 1996. Molecular and genetic studies on the region of translocation and duplication in the neuroblastoma cell line NGP at the 1p36.13-p36.32 chromosomal site. Oncogene. 12 (10), pp. 2101-2108.

Simple DNA repeats and sex chromosome differentiation in asellus aquaticus (Crustacea, isopoda)
Volpi, E.V., Pelliccia, F., Lanza, V., Barzotti, R. and Rocchi, A. 1995. Simple DNA repeats and sex chromosome differentiation in asellus aquaticus (Crustacea, isopoda). Heredity. 75, p. 267–272. https://doi.org/10.1038/hdy.1995.134

Cytogenetic and molecular studies on the neuroblastoma cell line NGP: identification of a reciprocal t(1;15) involving the "consensus region" 1p36.1.
Muresu, R., Casciano I., Volpi, E.V., Siniscalco, M. and Romani, M. 1995. Cytogenetic and molecular studies on the neuroblastoma cell line NGP: identification of a reciprocal t(1;15) involving the "consensus region" 1p36.1. Genes, Chromosomes & Cancer. 13 (1), pp. 66-71. https://doi.org/10.1002/gcc.2870130111

Subregional mapping of the human lymphocyte-specific protein tyrosine kinase gene (LCK) to 1p35-->p34.3 and its position relative to the 1p marker D1S57.
Volpi, E.V., Romani, M. and Siniscalco, M. 1994. Subregional mapping of the human lymphocyte-specific protein tyrosine kinase gene (LCK) to 1p35-->p34.3 and its position relative to the 1p marker D1S57. Cytogenetics and Cell Genetics. 67, pp. 187-189. https://doi.org/10.1159/000133819

Telomeric sequences of ase/lus aquaticus (Crust. isop.)
Pelliccia, F., Volpi, E.V., Lanza, V., Gaddini, L., Balding, A. and Rocchi, A. 1994. Telomeric sequences of ase/lus aquaticus (Crust. isop.). Heredity. 72, pp. 78-80. https://doi.org/10.1038/hdy.1994.9

Concurrent mapping of an adenovirus 5/SV40 integration site and the U1 snRNA cluster (RNU1) within 400 kb of the chromosome region 1p36.1.
Romani, M., Baldini, A., Volpi, E., Casciano, I., Nobile, C., Muresu, R. and Siniscalco, M. 1994. Concurrent mapping of an adenovirus 5/SV40 integration site and the U1 snRNA cluster (RNU1) within 400 kb of the chromosome region 1p36.1. Cytogenetics and Cell Genetics. 67, pp. 37-40. https://doi.org/10.1159/000133793

MULTIPRINS: a method for multicolour primed in situ labelling
Volpi, E. and Baldini, A. 1993. MULTIPRINS: a method for multicolour primed in situ labelling. Chromosome Research. 1, pp. 257-260. https://doi.org/10.1007/bf00710131

Morphological differentiation of a sex chromosome and ribosomal genes in asellus aquaticus (Crust. Isop.)
Volpi, E.V., Pelliccia, F., Lanza, V., Di Castro, M. and Rocchi, A. 1992. Morphological differentiation of a sex chromosome and ribosomal genes in asellus aquaticus (Crust. Isop.). Heredity. https://doi.org/10.1038/hdy.1992.153

GATA repeats in the genome of Asellus aquaticus (Crustacea, Isopoda).
Pelliccia, F., Di Castro, M., Lanza, V., Volpi, E.V. and Rocchi, A. 1991. GATA repeats in the genome of Asellus aquaticus (Crustacea, Isopoda). Chromosoma. 100, pp. 152-155. https://doi.org/10.1007/bf00337243

Light-dark cycle and mitotic index in Asellus aquaticus (L.) (Crustacea, Isopoda)
Valentino, F., Volpi, E.V., Antolini, R. and Migliore, L. 1990. Light-dark cycle and mitotic index in Asellus aquaticus (L.) (Crustacea, Isopoda). Genetica. 82, pp. 147-150. https://doi.org/10.1007/bf00124645

The genetic isolation between some populations of Proasellus coxalis
Volpi, E.V., Antolini, R. and Valentino, F. 1989. The genetic isolation between some populations of Proasellus coxalis. Journal of Zoological Systematics and Evolutionary Research. 27 (3), pp. 246-251. https://doi.org/10.1111/j.1439-0469.1989.tb00346.x

Characterization of the karyotype of proasellus meridianusby differential staining techniques
Di Castro, M., Lanza, V., Volpi, E.V. and Rocchi, A. 1989. Characterization of the karyotype of proasellus meridianusby differential staining techniques. Caryologia. 42 (3-4), pp. 235-242. https://doi.org/10.1080/00087114.1989.10796970