XBP1-Independent UPR Pathways Suppress C/EBP-β Mediated Chondrocyte Differentiation in ER-Stress Related Skeletal Disease
Cameron, Trevor L, Bell, Katrina M, Gresshoff, Irma L, Sampurno, Lisa, Mullan, Lorna, Ermann, Joerg, Glimcher, Laurie H, Boot-Handford, Raymond P, Bateman, John F
Published in PLoS genetics (01.09.2015)
Published in PLoS genetics (01.09.2015)
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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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Transcriptional profiling of chondrodysplasia growth plate cartilage reveals adaptive ER-stress networks that allow survival but disrupt hypertrophy
Cameron, Trevor L, Bell, Katrina M, Tatarczuch, Liliana, Mackie, Eleanor J, Rajpar, M Helen, McDermott, Ben T, Boot-Handford, Raymond P, Bateman, John F
Published in PloS one (15.09.2011)
Published in PloS one (15.09.2011)
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NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency
Kirby, Denise M, Salemi, Renato, Sugiana, Canny, Ohtake, Akira, Parry, Lee, Bell, Katrina M, Kirk, Edwin P, Boneh, Avihu, Taylor, Robert W, Dahl, Hans-Henrik M, Ryan, Michael T, Thorburn, David R
Published in The Journal of clinical investigation (01.09.2004)
Published in The Journal of clinical investigation (01.09.2004)
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A novel gastrokine, Gkn3, marks gastric atrophy and shows evidence of adaptive gene loss in humans
Menheniott, Trevelyan R, Peterson, Anthony J, O'Connor, Louise, Lee, Kai Syin, Kalantzis, Anastasia, Kondova, Ivanela, Bontrop, Ronald E, Bell, Katrina M, Giraud, Andrew S
Published in Gastroenterology (New York, N.Y. 1943) (01.05.2010)
Published in Gastroenterology (New York, N.Y. 1943) (01.05.2010)
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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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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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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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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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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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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
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
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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Journal Article
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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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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Journal Article
Comprehensive Expression Analysis of microRNAs and mRNAs in Synovial Tissue from a Mouse Model of Early Post-Traumatic Osteoarthritis
Kung, Louise H. W., Ravi, Varshini, Rowley, Lynn, Bell, Katrina M., Little, Christopher B., Bateman, John F.
Published in Scientific reports (18.12.2017)
Published in Scientific reports (18.12.2017)
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