Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair von 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

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A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom? von Vears, Danya, Amor, David J.

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Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome von Hudson, Damien F, Amor, David J, Boys, Amber, Butler, Kathy, Williams, Lorna, Zhang, Tao, Kalitsis, Paul

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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS von 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.

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Assisted reproductive technologies are associated with limited epigenetic variation at birth that largely resolves by adulthood von 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

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Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study von Turbitt, Erin, Bourne, Meg, McEwen, Alison, Amor, David J.

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A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency von Pagnamenta, Alistair T., Yu, Jing, Willis, Tracey A., Hashim, Mona, Seaby, Eleanor G., Walker, Susan, Xian, Jiaqi, Cheng, Emily W. Y., Tavares, Ana Lisa Taylor, Forzano, Francesca, Cox, Helen, Dabir, Tabib, Brady, Angela F., Ghali, Neeti, Atanur, Santosh S., Ennis, Sarah, Baralle, Diana, Taylor, Jenny C.

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Investigating the child with intellectual disability von Amor, David J

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The association between human chorionic gonadotropin and adverse pregnancy outcomes: a systematic review and meta-analysis von Peris, Monique, Crompton, Kylie, Shepherd, Daisy A., Amor, David J.

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A review of known imprinting syndromes and their association with assisted reproduction technologies von Amor, David J., Halliday, Jane

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Beckwith-Wiedemann Syndrome and IVF: A Case-Control Study von Halliday, Jane, Oke, Kay, Breheny, Sue, Algar, Elizabeth, J. Amor, David

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Epigenetics of fragile X syndrome and fragile X‐related disorders von Kraan, Claudine M, Godler, David E, Amor, David J

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Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology von 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.

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To speak may draw on epigenetic writing and reading: Unravelling the complexity of speech and language outcomes across chromatin-related neurodevelopmental disorders von St John, Miya, Tripathi, Tanya, Morgan, Angela T., Amor, David J.

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Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests von 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

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Statistical analysis of observational studies in disability research von Shepherd, Daisy A., Amor, David J., Moreno‐Betancur, Margarita

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Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System von Lunke, Sebastian, Eggers, Stefanie, Wilson, Meredith, Patel, Chirag, Barnett, Christopher P, Pinner, Jason, Sandaradura, Sarah A, Buckley, Michael F, Krzesinski, Emma I, de Silva, Michelle G, Brett, Gemma R, Boggs, Kirsten, Mowat, David, Kirk, Edwin P, Adès, Lesley C, Akesson, Lauren S, Amor, David J, Ayres, Samantha, Baxendale, Anne, Borrie, Sarah, Bray, Alessandra, Brown, Natasha J, Chan, Cheng Yee, Chong, Belinda, Cliffe, Corrina, Delatycki, Martin B, Edwards, Matthew, Elakis, George, Fahey, Michael C, Fennell, Andrew, Fowles, Lindsay, Gallacher, Lyndon, Higgins, Megan, Howell, Katherine B, Hunt, Lauren, Hunter, Matthew F, Jones, Kristi J, King, Sarah, Kumble, Smitha, Lang, Sarah, Le Moing, Maelle, Ma, Alan, Phelan, Dean, Quinn, Michael C J, Richards, Anna, Richmond, Christopher M, Riseley, Jessica, Rodgers, Jonathan, Sachdev, Rani, Sadedin, Simon, Schlapbach, Luregn J, Smith, Janine, Springer, Amanda, Tan, Natalie B, Tan, Tiong Y, Temple, Suzanna L, Theda, Christiane, Vasudevan, Anand, White, Susan M, Yeung, Alison, Zhu, Ying, Martyn, Melissa, Best, Stephanie, Roscioli, Tony, Christodoulou, John, Stark, Zornitza

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Principles of Genomic Newborn Screening Programs: A Systematic Review von Downie, Lilian, Halliday, Jane, Lewis, Sharon, Amor, David J

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Polygenic risk score for embryo selection-not ready for prime time von Polyakov, Alex, Amor, David J, Savulescu, Julian, Gyngell, Christopher, Georgiou, Ektoras X, Ross, Vanessa, Mizrachi, Yossi, Rozen, Genia

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Intellectual disability: A potentially treatable condition von Donoghue, Sarah E, Amor, David J

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