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
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
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
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
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, McDonald, Zoe, 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
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
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
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
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
CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases
Morison, Lottie D, van Reyk, Olivia, Forbes, Elana, Rouxel, Flavien, Faivre, Laurence, Bruinsma, Fiona, Vincent, Marie, Jacquemont, Marie-Line, Dykzeul, Natalie L, Geneviève, David, Amor, David J, Morgan, Angela T
Published in European journal of human genetics : EJHG (01.07.2023)
Published in European journal of human genetics : EJHG (01.07.2023)
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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
Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome
Godler, David E., Inaba, Yoshimi, Bui, Minh Q., Francis, David, Skinner, Cindy, Schwartz, Charles E., Amor, David J.
Published in International journal of molecular sciences (01.07.2023)
Published in International journal of molecular sciences (01.07.2023)
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Journal Article
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
Bennett, James T., Tan, Tiong Yang, Alcantara, Diana, Tétrault, Martine, Timms, Andrew E., Jensen, Dana, Collins, Sarah, Nowaczyk, Malgorzata J.M., Lindhurst, Marjorie J., Christensen, Katherine M., Braddock, Stephen R., Brandling-Bennett, Heather, Hennekam, Raoul C.M., Chung, Brian, Lehman, Anna, Su, John, Ng, SuYuen, Amor, David J., Majewski, Jacek, Biesecker, Les G., Boycott, Kym M., Dobyns, William B., O’Driscoll, Mark, Moog, Ute, McDonell, Laura M.
Published in American journal of human genetics (03.03.2016)
Published in American journal of human genetics (03.03.2016)
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Journal Article
Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis
Mill, Pleasantine, Lockhart, Paul J., Fitzpatrick, Elizabeth, Mountford, Hayley S., Hall, Emma A., Reijns, Martin A.M., Keighren, Margaret, Bahlo, Melanie, Bromhead, Catherine J., Budd, Peter, Aftimos, Salim, Delatycki, Martin B., Savarirayan, Ravi, Jackson, Ian J., Amor, David J.
Published in American journal of human genetics (08.04.2011)
Published in American journal of human genetics (08.04.2011)
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Journal Article
Mutations in TRPV4 cause an inherited arthropathy of hands and feet
Lamandé, Shireen R, Yuan, Yuan, Gresshoff, Irma L, Rowley, Lynn, Belluoccio, Daniele, Kaluarachchi, Kumara, Little, Christopher B, Botzenhart, Elke, Zerres, Klaus, Amor, David J, Cole, William G, Savarirayan, Ravi, McIntyre, Peter, Bateman, John F
Published in Nature genetics (01.11.2011)
Published in Nature genetics (01.11.2011)
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Journal Article
Pathogenic Variants in GPC4 Cause Keipert Syndrome
Amor, David J., Stephenson, Sarah E.M., Mustapha, Mirna, Mensah, Martin A., Ockeloen, Charlotte W., Lee, Wei Shern, Tankard, Rick M., Phelan, Dean G., Shinawi, Marwan, de Brouwer, Arjan P.M., Pfundt, Rolph, Dowling, Cari, Toler, Tomi L., Sutton, V. Reid, Agolini, Emanuele, Rinelli, Martina, Capolino, Rossella, Martinelli, Diego, Zampino, Giuseppe, Dumić, Miroslav, Reardon, William, Shaw-Smith, Charles, Leventer, Richard J., Delatycki, Martin B., Kleefstra, Tjitske, Mundlos, Stefan, Mortier, Geert, Bahlo, Melanie, Allen, Nicola J., Lockhart, Paul J.
Published in American journal of human genetics (02.05.2019)
Published in American journal of human genetics (02.05.2019)
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Journal Article
Epigenome-wide analysis in newborn blood spots from monozygotic twins discordant for cerebral palsy reveals consistent regional differences in DNA methylation
Mohandas, Namitha, Bass-Stringer, Sebastian, Maksimovic, Jovana, Crompton, Kylie, Loke, Yuk J, Walstab, Janet, Reid, Susan M, Amor, David J, Reddihough, Dinah, Craig, Jeffrey M
Published in Clinical epigenetics (23.02.2018)
Published in Clinical epigenetics (23.02.2018)
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Journal Article
Fertility in Turner syndrome
Hewitt, Jacqueline K., Jayasinghe, Yasmin, Amor, David J., Gillam, Lynn H., Warne, Garry L., Grover, Sonia, Zacharin, Margaret R.
Published in Clinical endocrinology (Oxford) (01.11.2013)
Published in Clinical endocrinology (Oxford) (01.11.2013)
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Journal Article
Family-centred care for children with traumatic brain injury and/or spinal cord injury: a qualitative study of service provider perspectives during the COVID-19 pandemic
Pollock, Anna, D’Cruz, Kate, Scheinberg, Adam, Botchway, Edith, Harms, Louise, Amor, David J, Anderson, Vicki, Bonyhady, Bruce, Knight, Sarah
Published in BMJ open (13.06.2022)
Published in BMJ open (13.06.2022)
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