Large-scale chromatin organization of the major histocompatibility complex and other regions of human chromosome 6 and its response to interferon in interphase nuclei EV Volpi, E Chevret, T Jones, R Vatcheva, J Williamson, S Beck, ... Journal of cell science 113 (9), 1565-1576, 2000 | 555 | 2000 |
FISH glossary: an overview of the fluorescence in situ hybridization technique EV Volpi, JM Bridger Biotechniques 45 (4), 385-409, 2008 | 275 | 2008 |
Whole genome analysis of a schistosomiasis-transmitting freshwater snail CM Adema, LDW Hillier, CS Jones, ES Loker, M Knight, P Minx, ... Nature communications 8 (1), 15451, 2017 | 261 | 2017 |
An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism MR Bowl, MA Nesbit, B Harding, E Levy, A Jefferson, E Volpi, K Rizzoti, ... The Journal of clinical investigation 115 (10), 2822-2831, 2005 | 132 | 2005 |
Unexpected complexity in the haplotypes of commonly used inbred strains of laboratory mice B Yalcin, J Fullerton, S Miller, DA Keays, S Brady, A Bhomra, A Jefferson, ... Proceedings of the National Academy of Sciences 101 (26), 9734-9739, 2004 | 132 | 2004 |
Structures of lysenin reveal a shared evolutionary origin for pore-forming proteins and its mode of sphingomyelin recognition L De Colibus, AFP Sonnen, KJ Morris, CA Siebert, P Abrusci, J Plitzko, ... Structure 20 (9), 1498-1507, 2012 | 112 | 2012 |
Integrated view of genome structure and sequence of a single DNA molecule in a nanofluidic device R Marie, JN Pedersen, DLV Bauer, KH Rasmussen, M Yusuf, E Volpi, ... Proceedings of the National Academy of Sciences 110 (13), 4893-4898, 2013 | 111 | 2013 |
In vivo modeling of human neuron dynamics and Down syndrome R Real, M Peter, A Trabalza, S Khan, MA Smith, J Dopp, SJ Barnes, ... Science 362 (6416), 2018 | 100 | 2018 |
Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy S Halford, G Liew, DS Mackay, PI Sergouniotis, R Holt, S Broadgate, ... Ophthalmology 121 (6), 1174-1184, 2014 | 100 | 2014 |
Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain I Alić, PA Goh, A Murray, E Portelius, E Gkanatsiou, G Gough, KY Mok, ... Molecular psychiatry 26 (10), 5766-5788, 2021 | 93 | 2021 |
The leukocyte receptor complex in chicken is characterized by massive expansion and diversification of immunoglobulin-like Loci K Laun, P Coggill, S Palmer, S Sims, Z Ning, J Ragoussis, E Volpi, ... PLoS genetics 2 (5), e73, 2006 | 85 | 2006 |
Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis H Ashrafian, L O'Flaherty, J Adam, V Steeples, YL Chung, P East, ... Cancer research 70 (22), 9153-9165, 2010 | 77 | 2010 |
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection NH Sykes, C Toma, N Wilson, EV Volpi, I Sousa, AT Pagnamenta, ... European Journal of Human Genetics 17 (10), 1347-1353, 2009 | 76 | 2009 |
Comprehensive cytogenomic profile of the in vitro neuronal model SH-SY5Y M Yusuf, K Leung, KJ Morris, EV Volpi Neurogenetics 14, 63-70, 2013 | 71 | 2013 |
An improved technique for chromosomal analysis of human ES and iPS cells D Moralli, M Yusuf, MA Mandegar, S Khoja, ZL Monaco, EV Volpi Stem Cell Reviews and Reports 7, 471-477, 2011 | 60 | 2011 |
Mini review: form and function in the human interphase chromosome E Chevret, EV Volpi, D Sheer Cytogenetics and cell genetics 90 (1-2), 13-21, 2000 | 58 | 2000 |
Perforin activity at membranes leads to invaginations and vesicle formation T Praper, AFP Sonnen, A Kladnik, AO Andrighetti, G Viero, KJ Morris, ... Proceedings of the National Academy of Sciences 108 (52), 21016-21021, 2011 | 53 | 2011 |
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder C Babbs, D Lloyd, AT Pagnamenta, SRF Twigg, J Green, SJ McGowan, ... Journal of medical genetics 51 (11), 737-747, 2014 | 48 | 2014 |
A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3 AT Pagnamenta, R Holt, M Yusuf, D Pinto, K Wing, C Betancur, ... Journal of neurodevelopmental disorders 3 (2), 124-131, 2011 | 46 | 2011 |
DNA damage in obesity: Initiator, promoter and predictor of cancer M Usman, EV Volpi Mutation Research/Reviews in Mutation Research 778, 23-37, 2018 | 42 | 2018 |