Integrated multi-omics for rapid rare disease diagnosis on a national scale
Lunke, Sebastian, Bouffler, Sophie E, Patel, Chirag V, Sandaradura, Sarah A, Wilson, Meredith, Pinner, Jason, Hunter, Matthew F, Barnett, Christopher P, Wallis, Mathew, Kamien, Benjamin, Tan, Tiong Y, Freckmann, Mary-Louise, Chong, Belinda, Phelan, Dean, Francis, David, Kassahn, Karin S, Ha, Thuong, Gao, Song, Arts, Peer, Jackson, Matilda R, Scott, Hamish S, Eggers, Stefanie, Rowley, Simone, Boggs, Kirsten, Rakonjac, Ana, Brett, Gemma R, de Silva, Michelle G, Springer, Amanda, Ward, Michelle, Stallard, Kirsty, Simons, Cas, Conway, Thomas, Halman, Andreas, Van Bergen, Nicole J, Sikora, Tim, Semcesen, Liana N, Stroud, David A, Compton, Alison G, Thorburn, David R, Bell, Katrina M, Sadedin, Simon, North, Kathryn N, Christodoulou, John, Stark, Zornitza
Published in Nature medicine (01.07.2023)
Published in Nature medicine (01.07.2023)
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Journal Article
Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy
Richmond, Christopher M., James, Paul A., Pantaleo, Sarah-Jane, Chong, Belinda, Lunke, Sebastian, Tan, Tiong Y., Macciocca, Ivan
Published in Genetics in medicine (01.06.2021)
Published in Genetics in medicine (01.06.2021)
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Journal Article
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review
Tan, Natalie B., Stapleton, Rachel, Stark, Zornitza, Delatycki, Martin B., Yeung, Alison, Hunter, Matthew F., Amor, David J., Brown, Natasha J., Stutterd, Chloe A., McGillivray, George, Yap, Patrick, Regan, Matthew, Chong, Belinda, Fanjul Fernandez, Miriam, Marum, Justine, Phelan, Dean, Pais, Lynn S., White, Susan M., Lunke, Sebastian, Tan, Tiong Y.
Published in Molecular genetics & genomic medicine (01.11.2020)
Published in Molecular genetics & genomic medicine (01.11.2020)
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Journal Article
Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome
Miller, Kerry A, Ah-Cann, Casey J, Welfare, Megan F, Tan, Tiong Y, Pope, Kate, Caruana, Georgina, Freckmann, Mary-Louise, Savarirayan, Ravi, Bertram, John F, Dobbie, Michael S, Bateman, John F, Farlie, Peter G
Published in PLoS genetics (01.08.2013)
Published in PLoS genetics (01.08.2013)
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Journal Article
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants
Rius, Rocio, Van Bergen, Nicole J, Compton, Alison G, Riley, Lisa G, Kava, Maina P, Balasubramaniam, Shanti, Amor, David J, Fanjul-Fernandez, Miriam, Cowley, Mark J, Fahey, Michael C, Koenig, Mary K, Enns, Gregory M, Sadedin, Simon, Wilson, Meredith J, Tan, Tiong Y, Thorburn, David R, Christodoulou, John
Published in Journal of clinical medicine (19.11.2019)
Published in Journal of clinical medicine (19.11.2019)
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Journal Article
The clinical impact of chromosomal microarray on paediatric care in Hong Kong
Tao, Victoria Q, Chan, Kelvin Y K, Chu, Yoyo W Y, Mok, Gary T K, Tan, Tiong Y, Yang, Wanling, Lee, So Lun, Tang, Wing Fai, Tso, Winnie W Y, Lau, Elizabeth T, Kan, Anita S Y, Tang, Mary H, Lau, Yu-Lung, Chung, Brian H Y
Published in PloS one (15.10.2014)
Published in PloS one (15.10.2014)
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Journal Article
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
Clark, Michelle M, Stark, Zornitza, Farnaes, Lauge, Tan, Tiong Y, White, Susan M, Dimmock, David, Kingsmore, Stephen F
Published in Npj genomic medicine (09.07.2018)
Published in Npj genomic medicine (09.07.2018)
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Journal Article
Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness
Stark, Zornitza, Schofield, Deborah, Martyn, Melissa, Rynehart, Luke, Shrestha, Rupendra, Alam, Khurshid, Lunke, Sebastian, Tan, Tiong Y., Gaff, Clara L., White, Susan M.
Published in Genetics in medicine (01.01.2019)
Published in Genetics in medicine (01.01.2019)
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Journal Article
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
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
Published in JAMA : the journal of the American Medical Association (23.06.2020)
Published in JAMA : the journal of the American Medical Association (23.06.2020)
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Journal Article
Genomic testing in premature ovarian insufficiency: proceed with caution
Tucker, Elena J., Tan, Tiong Y., Stark, Zornitza, Sinclair, Andrew H.
Published in Biology of reproduction (01.11.2022)
Published in Biology of reproduction (01.11.2022)
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Journal Article
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Stark, Zornitza, Tan, Tiong Y., Chong, Belinda, Brett, Gemma R., Yap, Patrick, Walsh, Maie, Yeung, Alison, Peters, Heidi, Mordaunt, Dylan, Cowie, Shannon, Amor, David J., Savarirayan, Ravi, McGillivray, George, Downie, Lilian, Ekert, Paul G., Theda, Christiane, James, Paul A., Yaplito-Lee, Joy, Ryan, Monique M., Leventer, Richard J., Creed, Emma, Macciocca, Ivan, Bell, Katrina M., Oshlack, Alicia, Sadedin, Simon, Georgeson, Peter, Anderson, Charlotte, Thorne, Natalie, Gaff, Clara, White, Susan M.
Published in Genetics in medicine (01.11.2016)
Published in Genetics in medicine (01.11.2016)
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Journal Article
Meeting the challenges of implementing rapid genomic testing in acute pediatric care
Stark, Zornitza, Lunke, Sebastian, Brett, Gemma R., Tan, Natalie B., Stapleton, Rachel, Kumble, Smitha, Yeung, Alison, Phelan, Dean G., Chong, Belinda, Fanjul-Fernandez, Miriam, Marum, Justine E., Hunter, Matthew, Jarmolowicz, Anna, Prawer, Yael, Riseley, Jessica R., Regan, Matthew, Elliott, Justine, Martyn, Melissa, Best, Stephanie, Tan, Tiong Y., Gaff, Clara L., White, Susan M.
Published in Genetics in medicine (01.12.2018)
Published in Genetics in medicine (01.12.2018)
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Journal Article
Clinical Comparison of Overlapping Deletions of 19p13.3
Risheg, Hiba, Pasion, Romela, Sacharow, Stephanie, Proud, Virginia, Immken, LaDonna, Schwartz, Stuart, Tepperberg, Jim H., Papenhausen, Peter, Tan, Tiong Y., Andrieux, Joris, Plessis, Ghislaine, Amor, David J., Keitges, Elisabeth A.
Published in American journal of medical genetics. Part A (01.05.2013)
Published in American journal of medical genetics. Part A (01.05.2013)
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Journal Article
Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature
Thomas, N. Simon, Harvey, John F., Bunyan, David J., Rankin, Julia, Grigelioniene, Giedre, Bruno, Damien L., Tan, Tiong Y., Tomkins, Susan, Hastings, Robert
Published in American journal of medical genetics. Part A (01.07.2009)
Published in American journal of medical genetics. Part A (01.07.2009)
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Journal Article
Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children
Goranitis, Ilias, Wu, You, Lunke, Sebastian, White, Susan M., Tan, Tiong Y., Yeung, Alison, Hunter, Matthew F., Martyn, Melissa, Gaff, Clara, Stark, Zornitza
Published in Genetics in medicine (01.05.2022)
Published in Genetics in medicine (01.05.2022)
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Journal Article
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution
Stark, Zornitza, Foulger, Rebecca E., Williams, Eleanor, Thompson, Bryony A., Patel, Chirag, Lunke, Sebastian, Snow, Catherine, Leong, Ivone U.S., Puzriakova, Arina, Daugherty, Louise C., Leigh, Sarah, Boustred, Christopher, Niblock, Olivia, Rueda-Martin, Antonio, Gerasimenko, Oleg, Savage, Kevin, Bellamy, William, Lin, Victor San Kho, Valls, Roman, Gordon, Lavinia, Brittain, Helen K., Thomas, Ellen R.A., Taylor Tavares, Ana Lisa, McEntagart, Meriel, White, Susan M., Tan, Tiong Y., Yeung, Alison, Downie, Lilian, Macciocca, Ivan, Savva, Elena, Lee, Crystle, Roesley, Ain, De Fazio, Paul, Deller, Jane, Deans, Zandra C., Hill, Sue L., Caulfield, Mark J., North, Kathryn N., Scott, Richard H., Rendon, Augusto, Hofmann, Oliver, McDonagh, Ellen M.
Published in American journal of human genetics (02.09.2021)
Published in American journal of human genetics (02.09.2021)
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Journal Article
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification
Dong, Xiaomin, Tan, Natalie B., Howell, Katherine B., Barresi, Sabina, Freeman, Jeremy L., Vecchio, Davide, Piccione, Maria, Radio, Francesca Clementina, Calame, Daniel, Zong, Shan, Eggers, Stefanie, Scheffer, Ingrid E., Tan, Tiong Y., Van Bergen, Nicole J., Tartaglia, Marco, Christodoulou, John, White, Susan M.
Published in American journal of human genetics (02.04.2020)
Published in American journal of human genetics (02.04.2020)
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Journal Article
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
Bodemer, Christine, Vanderver, Adeline, Bertini, Enrico, Hamel, Ben C J, van der Knaap, Marjo S, Heiberg, Arvid, Orcesi, Simona, Tan, Tiong Y, Lagae, Lieven, Manfield, Iain W, Whittaker, Elizabeth, Lamb, Teresa, Gornall, Hannah, Cazorla, Angels Garcia, Rice, Gillian I, Hunter, Matthew, Shalev, Stavit A, Marom, Daphna, Rasmussen, Magnhild, Desguerre, Isabelle, Crow, Yanick J, Lourenco, Charles M, Bonthron, David T, Ali, Manir, Fuller, Jonathan C, Soler, Doriette M, Bond, Jacquelyn, Jackson, Richard M, Couthard, Lydia R, Wakeling, Emma L, Gener, Blanca, Brockmann, Knut, Landrieu, Pierre G, Fazzi, Elisa, Carr, Ian M, van der Merwe, William, Shinawi, Marwan, Kumar, Ram, Spiegel, Ronen, Briggs, Tracy A, Attard-Montalto, Simon P, Asipu, Aruna, Brueton, Louise A, Wassmer, Evangeline, Brunette, Rebecca L, Lebon, Pierre, Stetson, Daniel B, McDermott, Michael F, Aeby, Alec, Corry, Peter C, Prendiville, Julie S
Published in Nature genetics (01.07.2009)
Published in Nature genetics (01.07.2009)
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Journal Article
Hypomorphic and dominant-negative impact of truncated SOX9 dysregulates Hedgehog-Wnt signaling, causing campomelia
Au, Tiffany Y K, Yip, Raymond K H, Wynn, Sarah L, Tan, Tiong Y, Fu, Alex, Geng, Yu Hong, Szeto, Irene Y Y, Niu, Ben, Yip, Kevin Y, Cheung, Martin C H, Lovell-Badge, Robin, Cheah, Kathryn S E
Published in Proceedings of the National Academy of Sciences - PNAS (03.01.2023)
Published in Proceedings of the National Academy of Sciences - PNAS (03.01.2023)
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Journal Article
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
Costain, Gregory, Callewaert, Bert, Gabriel, Heinz, Tan, Tiong Y, Walker, Susan, Christodoulou, John, Lazar, Tamas, Menten, Björn, Orkin, Julia, Sadedin, Simon, Snell, Meaghan, Vanlander, Arnaud, Vergult, Sarah, White, Susan M, Scherer, Stephen W, Hayeems, Robin Z, Blaser, Susan, Wodak, Shoshana J, Chitayat, David, Marshall, Christian R, Meyn, M Stephen
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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