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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Functional characterisation of human recessive DIS3 variants in premature ovarian insufficiency
Kline, Brianna L, Siddall, Nicole A, Wijaya, Fernando, Stuart, Catherine J, Orlando, Luisa, Bakhshalizadeh, Shabnam, Afkhami, Fateme, Bell, Katrina M, Jaillard, Sylvie, Robevska, Gorjana, Bergen, Jocelyn A, Shahbazi, Shirin, Hoof, Ambro, Ayers, Katie L, Hime, Gary R, Sinclair, Andrew H, Tucker, Elena J
Published in Biology of reproduction (14.10.2024)
Published in Biology of reproduction (14.10.2024)
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Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights
Tucker, Elena J, Baker, Megan J, Hock, Daniella H, Warren, Julia T, Jaillard, Sylvie, Bell, Katrina M, Sreenivasan, Rajini, Bakhshalizadeh, Shabnam, Hanna, Chloe A, Caruana, Nikeisha J, Wortmann, Saskia B, Rahman, Shamima, Pitceathly, Robert D S, Donadieu, Jean, Alimi, Aurelia, Launay, Vincent, Coppo, Paul, Christin-Maitre, Sophie, Robevska, Gorjana, van den Bergen, Jocelyn, Kline, Brianna L, Ayers, Katie L, Stewart, Phoebe N, Stroud, David A, Stojanovski, Diana, Sinclair, Andrew H
Published in The journal of clinical endocrinology and metabolism (25.11.2022)
Published in The journal of clinical endocrinology and metabolism (25.11.2022)
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Modeling human skeletal development using human pluripotent stem cells
Lamandé, Shireen R, Ng, Elizabeth S, Cameron, Trevor L, Kung, Louise H W, Sampurno, Lisa, Rowley, Lynn, Lilianty, Jinia, Patria, Yudha Nur, Stenta, Tayla, Hanssen, Eric, Bell, Katrina M, Saxena, Ritika, Stok, Kathryn S, Stanley, Edouard G, Elefanty, Andrew G, Bateman, John F
Published in Proceedings of the National Academy of Sciences - PNAS (09.05.2023)
Published in Proceedings of the National Academy of Sciences - PNAS (09.05.2023)
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QuickDASH and PRWE Are Not Optimal Patient-Reported Outcome Measures After Distal Radial Fracture Due to Ceiling Effect: Potential Implications for Future Research
Bell, Katrina R, Oliver, William M, White, Timothy O, Molyneux, Samuel G, Clement, Nicholas D, Duckworth, Andrew D
Published in Journal of bone and joint surgery. American volume (16.08.2023)
Published in Journal of bone and joint surgery. American volume (16.08.2023)
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Excellent 10-year patient-reported outcomes and survival in a single-radius, cruciate-retaining total knee arthroplasty
Scott, Chloe E. H., Bell, Katrina R., Ng, Richard T., MacDonald, Deborah J., Patton, James T., Burnett, Richard
Published in Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA (01.04.2019)
Published in Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA (01.04.2019)
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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
TP63‐truncating variants cause isolated premature ovarian insufficiency
Tucker, Elena J., Jaillard, Sylvie, Grover, Sonia R., Bergen, Jocelyn, Robevska, Gorjana, Bell, Katrina M, Sadedin, Simon, Hanna, Chloe, Dulon, Jérôme, Touraine, Philippe, Sinclair, Andrew H.
Published in Human mutation (01.07.2019)
Published in Human mutation (01.07.2019)
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ADAMTS-9 in Mouse Cartilage Has Aggrecanase Activity That Is Distinct from ADAMTS-4 and ADAMTS-5
Rogerson, Fraser M, Last, Karena, Golub, Suzanne B, Gauci, Stephanie J, Stanton, Heather, Bell, Katrina M, Fosang, Amanda J
Published in International journal of molecular sciences (29.01.2019)
Published in International journal of molecular sciences (29.01.2019)
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Journal Article
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss
Ullah, Farid, Rauf, Waqar, Khan, Kamal, Khan, Sheraz, Bell, Katrina M., de Oliveira, Vanessa Cristina, Tariq, Muhammad, Bakhshalizadeh, Shabnam, Touraine, Philippe, Katsanis, Nicholas, Sinclair, Andrew, He, Sijie, Tucker, Elena J., Baig, Shahid M., Davis, Erica E.
Published in Human genetics (01.12.2021)
Published in Human genetics (01.12.2021)
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Surgical Versus Nonsurgical Management of Humeral Shaft Fractures: A Systematic Review and Meta-Analysis of Randomized Trials
Oliver, William M, Bell, Katrina R, Molyneux, Samuel G, White, Timothy O, Clement, Nicholas D, Duckworth, Andrew D
Published in Journal of the American Academy of Orthopaedic Surgeons (15.01.2023)
Published in Journal of the American Academy of Orthopaedic Surgeons (15.01.2023)
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Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis
Bakhshalizadeh, Shabnam, Afkhami, Fateme, Bell, Katrina M., Robevska, Gorjana, van den Bergen, Jocelyn, Cronin, Sara, Jaillard, Sylvie, Ayers, Katie L., Kumar, Pramod, Siebold, Christian, Xiao, Zhangping, Tate, Edward W., Danaei, Shahla, Farzadi, Laya, Shahbazi, Shirin, Sinclair, Andrew H., Tucker, Elena J.
Published in Molecular and cellular endocrinology (01.06.2024)
Published in Molecular and cellular endocrinology (01.06.2024)
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Open Reduction and Tunneled Suspensory Device Fixation of Displaced Lateral-End Clavicular Fractures: Medium-Term Outcomes and Complications After Treatment
Robinson, C Michael, Bell, Katrina R, Murray, Iain R
Published in Journal of bone and joint surgery. American volume (07.08.2019)
Published in Journal of bone and joint surgery. American volume (07.08.2019)
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Journal Article
NKX2-5 regulates human cardiomyogenesis via a HEY2 dependent transcriptional network
Anderson, David J., Kaplan, David I., Bell, Katrina M., Koutsis, Katerina, Haynes, John M., Mills, Richard J., Phelan, Dean G., Qian, Elizabeth L., Leitoguinho, Ana Rita, Arasaratnam, Deevina, Labonne, Tanya, Ng, Elizabeth S., Davis, Richard P., Casini, Simona, Passier, Robert, Hudson, James E., Porrello, Enzo R., Costa, Mauro W., Rafii, Arash, Curl, Clare L., Delbridge, Lea M., Harvey, Richard P., Oshlack, Alicia, Cheung, Michael M., Mummery, Christine L., Petrou, Stephen, Elefanty, Andrew G., Stanley, Edouard G., Elliott, David A.
Published in Nature communications (10.04.2018)
Published in Nature communications (10.04.2018)
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Journal Article
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes
Tucker, Elena J, Bell, Katrina M, Robevska, Gorjana, van den Bergen, Jocelyn, Ayers, Katie L, Listyasari, Nurin, Faradz, Sultana Mh, Dulon, Jérôme, Bakhshalizadeh, Shabnam, Sreenivasan, Rajini, Nouyou, Benedicte, Carre, Wilfrid, Akloul, Linda, Duros, Solène, Domin-Bernhard, Mathilde, Belaud-Rotureau, Marc-Antoine, Touraine, Philippe, Jaillard, Sylvie, Sinclair, Andrew H
Published in European journal of human genetics : EJHG (01.02.2022)
Published in European journal of human genetics : EJHG (01.02.2022)
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Journal Article
STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia
Jaillard, Sylvie, McElreavy, Kenneth, Robevska, Gorjana, Akloul, Linda, Ghieh, Farah, Sreenivasan, Rajini, Beaumont, Marion, Bashamboo, Anu, Bignon-Topalovic, Joelle, Neyroud, Anne-Sophie, Bell, Katrina, Veron-Gastard, Elisabeth, Launay, Erika, van den Bergen, Jocelyn, Nouyou, Bénédicte, Vialard, François, Belaud-Rotureau, Marc-Antoine, Ayers, Katie L, Odent, Sylvie, Ravel, Célia, Tucker, Elena J, Sinclair, Andrew H
Published in Molecular human reproduction (01.09.2020)
Published in Molecular human reproduction (01.09.2020)
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Journal Article
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans
Van Bergen, Nicole J, Bell, Katrina M, Carey, Kirsty, Gear, Russell, Massey, Sean, Murrell, Edward K, Gallacher, Lyndon, Pope, Kate, Lockhart, Paul J, Kornberg, Andrew, Pais, Lynn, Walkiewicz, Marzena, Simons, Cas, Wickramasinghe, Vihandha O, White, Susan M, Christodoulou, John
Published in Human molecular genetics (03.02.2022)
Published in Human molecular genetics (03.02.2022)
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Journal Article
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program
Cloney, Thomas, Gallacher, Lyndon, Pais, Lynn S, Tan, Natalie B, Yeung, Alison, Stark, Zornitza, Brown, Natasha J, McGillivray, George, Delatycki, Martin B, de Silva, Michelle G, Downie, Lilian, Stutterd, Chloe A, Elliott, Justine, Compton, Alison G, Lovgren, Alysia, Oertel, Ralph, Francis, David, Bell, Katrina M, Sadedin, Simon, Lim, Sze Chern, Helman, Guy, Simons, Cas, Macarthur, Daniel G, Thorburn, David R, O'Donnell-Luria, Anne H, Christodoulou, John, White, Susan M, Tan, Tiong Yang
Published in Journal of medical genetics (01.08.2022)
Published in Journal of medical genetics (01.08.2022)
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Journal Article
Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency
Tucker, Elena J., Sharp, Michael F., Lokchine, Anna, Bell, Katrina M., Palmer, Catherine S., Kline, Brianna L., Robevska, Gorjana, Bergen, Jocelyn, Dulon, Jérôme, Stojanovski, Diana, Ayers, Katie L., Touraine, Philippe, Crismani, Wayne, Jaillard, Sylvie, Sinclair, Andrew H.
Published in Clinical genetics (01.09.2024)
Published in Clinical genetics (01.09.2024)
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Journal Article
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency
Tucker, Elena J., Gutfreund, Niklas, Belaud‐Rotureau, Marc‐Antoine, Gilot, David, Brun, Tiffany, Kline, Brianna L., Bell, Katrina M., Domin‐Bernhard, Mathilde, Théard, Camille, Touraine, Philippe, Robevska, Gorjana, Bergen, Jocelyn, Ayers, Katie L., Sinclair, Andrew H., Dötsch, Volker, Jaillard, Sylvie
Published in Human mutation (01.10.2022)
Published in Human mutation (01.10.2022)
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