Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair
Vaz, Bruno, Popovic, Marta, Newman, Joseph A., Fielden, John, Aitkenhead, Hazel, Halder, Swagata, Singh, Abhay Narayan, Vendrell, Iolanda, Fischer, Roman, Torrecilla, Ignacio, Drobnitzky, Neele, Freire, Raimundo, Amor, David J., Lockhart, Paul J., Kessler, Benedikt M., McKenna, Gillies W., Gileadi, Opher, Ramadan, Kristijan
Published in Molecular cell (17.11.2016)
Published in Molecular cell (17.11.2016)
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Journal Article
Beckwith-Wiedemann Syndrome and IVF: A Case-Control Study
Halliday, Jane, Oke, Kay, Breheny, Sue, Algar, Elizabeth, J. Amor, David
Published in American journal of human genetics (01.09.2004)
Published in American journal of human genetics (01.09.2004)
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Journal Article
The Gibbs–Wilbraham phenomenon in the approximation of |x| by using Lagrange interpolation on the Chebyshev–Lobatto nodal systems
Berriochoa, E., Cachafeiro, A., García-Amor, J., García Rábade, H.
Published in Journal of computational and applied mathematics (01.11.2022)
Published in Journal of computational and applied mathematics (01.11.2022)
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Journal Article
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
Rafehi, Haloom, Szmulewicz, David J., Bennett, Mark F., Sobreira, Nara L.M., Pope, Kate, Smith, Katherine R., Gillies, Greta, Diakumis, Peter, Dolzhenko, Egor, Eberle, Michael A., Barcina, María García, Breen, David P., Chancellor, Andrew M., Cremer, Phillip D., Delatycki, Martin B., Fogel, Brent L., Hackett, Anna, Halmagyi, G. Michael, Kapetanovic, Solange, Lang, Anthony, Mossman, Stuart, Mu, Weiyi, Patrikios, Peter, Perlman, Susan L., Rosemergy, Ian, Storey, Elsdon, Watson, Shaun R.D., Wilson, Michael A., Zee, David S., Valle, David, Amor, David J., Bahlo, Melanie, Lockhart, Paul J.
Published in American journal of human genetics (03.07.2019)
Published in American journal of human genetics (03.07.2019)
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Journal Article
Assisted reproductive technologies are associated with limited epigenetic variation at birth that largely resolves by adulthood
Novakovic, Boris, Lewis, Sharon, Halliday, Jane, Kennedy, Joanne, Burgner, David P., Czajko, Anna, Kim, Bowon, Sexton-Oates, Alexandra, Juonala, Markus, Hammarberg, Karin, Amor, David J., Doyle, Lex W., Ranganathan, Sarath, Welsh, Liam, Cheung, Michael, McBain, John, McLachlan, Robert, Saffery, Richard
Published in Nature communications (02.09.2019)
Published in Nature communications (02.09.2019)
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Journal Article
Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome
Hudson, Damien F, Amor, David J, Boys, Amber, Butler, Kathy, Williams, Lorna, Zhang, Tao, Kalitsis, Paul
Published in PLoS genetics (01.12.2016)
Published in PLoS genetics (01.12.2016)
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Journal Article
Calf- and herd-level factors associated with dairy calf reactivity
Calderón-Amor, J., Beaver, A., von Keyserlingk, M.A.G., Gallo, C.
Published in Journal of dairy science (01.05.2020)
Published in Journal of dairy science (01.05.2020)
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Journal Article
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
Lessel, Davor, Vaz, Bruno, Halder, Swagata, Lockhart, Paul J, Marinovic-Terzic, Ivana, Lopez-Mosqueda, Jaime, Philipp, Melanie, Sim, Joe C H, Smith, Katherine R, Oehler, Judith, Cabrera, Elisa, Freire, Raimundo, Pope, Kate, Nahid, Amsha, Norris, Fiona, Leventer, Richard J, Delatycki, Martin B, Barbi, Gotthold, von Ameln, Simon, Högel, Josef, Degoricija, Marina, Fertig, Regina, Burkhalter, Martin D, Hofmann, Kay, Thiele, Holger, Altmüller, Janine, Nürnberg, Gudrun, Nürnberg, Peter, Bahlo, Melanie, Martin, George M, Aalfs, Cora M, Oshima, Junko, Terzic, Janos, Amor, David J, Dikic, Ivan, Ramadan, Kristijan, Kubisch, Christian
Published in Nature genetics (01.11.2014)
Published in Nature genetics (01.11.2014)
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Journal Article
Roles of the ClpX IGF loops in ClpP association, dissociation, and protein degradation
Amor, Alvaro J., Schmitz, Karl R., Baker, Tania A., Sauer, Robert T.
Published in Protein science (01.04.2019)
Published in Protein science (01.04.2019)
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Journal Article
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3
Sim, Joe C., Scerri, Thomas, Fanjul-Fernández, Miriam, Riseley, Jessica R., Gillies, Greta, Pope, Kate, van Roozendaal, Hanna, Heng, Julian I., Mandelstam, Simone A., McGillivray, George, MacGregor, Duncan, Kannan, Lakshminarayanan, Maixner, Wirginia, Harvey, A. Simon, Amor, David J., Delatycki, Martin B., Crino, Peter B., Bahlo, Melanie, Lockhart, Paul J., Leventer, Richard J.
Published in Annals of neurology (01.01.2016)
Published in Annals of neurology (01.01.2016)
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Journal Article
Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests
Archibald, Alison Dalton, Smith, Melanie Jane, Burgess, Trent, Scarff, Katrina Louise, Elliott, Justine, Hunt, Clare Elizabeth, Barns-Jenkins, Caitlin, Holt, Chelsea, Sandoval, Karina, Siva Kumar, Vanessa, Ward, Lisa, Allen, Emily Caroline, Collis, Sarah Valerie, Cowie, Shannon, Francis, David, Delatycki, Martin B, Yiu, Eppie Mildred, Massie, R John, Pertile, Mark Domenic, du Sart, Desirée, Bruno, Damien, Amor, David J
Published in Genetics in medicine (01.05.2018)
Published in Genetics in medicine (01.05.2018)
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Journal Article
Ellagic Acid as a Tool to Limit the Diabetes Burden: Updated Evidence
Amor, Antonio J, Gómez-Guerrero, Carmen, Ortega, Emilio, Sala-Vila, Aleix, Lázaro, Iolanda
Published in Antioxidants (03.12.2020)
Published in Antioxidants (03.12.2020)
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Journal Article
One-month assessment of Th-cell axis related inflammatory cytokines, IL-17 and IL-22 and their role in alcohol-associated liver disease
Sagaram, Manasa, Frimodig, Jane, Jayanty, Danielle, Hu, Huirong, Royer, Amor J, Bruner, Ryne, Kong, Maiying, Schwandt, Melanie L, Vatsalya, Vatsalya
Published in Frontiers in immunology (2023)
Published in Frontiers in immunology (2023)
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Journal Article
Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology
Wilson, Gabrielle R., Sim, Joe C.H., McLean, Catriona, Giannandrea, Maila, Galea, Charles A., Riseley, Jessica R., Stephenson, Sarah E.M., Fitzpatrick, Elizabeth, Haas, Stefan A., Pope, Kate, Hogan, Kirk J., Gregg, Ronald G., Bromhead, Catherine J., Wargowski, David S., Lawrence, Christopher H., James, Paul A., Churchyard, Andrew, Gao, Yujing, Phelan, Dean G., Gillies, Greta, Salce, Nicholas, Stanford, Lynn, Marsh, Ashley P.L., Mignogna, Maria L., Hayflick, Susan J., Leventer, Richard J., Delatycki, Martin B., Mellick, George D., Kalscheuer, Vera M., D’Adamo, Patrizia, Bahlo, Melanie, Amor, David J., Lockhart, Paul J.
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Journal Article
Adverse obstetric and perinatal outcomes in subfertile women conceiving without assisted reproductive technologies
Jaques, Alice M., Ph.D, Amor, David J., M.B.B.S, Baker, H.W. Gordon, M.D, Healy, David L., Ph.D, Ukoumunne, Obioha C., Ph.D, Breheny, Sue, B.Sc.(Hon), Garrett, Claire, Ph.D, Halliday, Jane L., Ph.D
Published in Fertility and sterility (01.12.2010)
Published in Fertility and sterility (01.12.2010)
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Journal Article
Association of Hypomagnesemia and Liver Injury, Role of Gut-Barrier Dysfunction and Inflammation: Efficacy of Abstinence, and 2-Week Medical Management in Alcohol Use Disorder Patients
Winrich, Evan J, Gala, Khushboo S, Rajhans, Abhas, Rios-Perez, Christian D, Royer, Amor J, Zamani, Zarlakhta, Parthasarathy, Ranganathan, Marsano-Obando, Luis S, Barve, Ashutosh J, Schwandt, Melanie L, Vatsalya, Vatsalya
Published in International journal of molecular sciences (26.09.2022)
Published in International journal of molecular sciences (26.09.2022)
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