Haploinsufficiency of SF3B2 causes craniofacial microsomia
Timberlake, Andrew T., Griffin, Casey, Heike, Carrie L., Hing, Anne V., Cunningham, Michael L., Chitayat, David, Davis, Mark R., Doust, Soghra J., Drake, Amelia F., Duenas-Roque, Milagros M., Goldblatt, Jack, Gustafson, Jonas A., Hurtado-Villa, Paula, Johns, Alexis, Karp, Natalya, Laing, Nigel G., Magee, Leanne, Mullegama, Sureni V., Pachajoa, Harry, Porras-Hurtado, Gloria L., Schnur, Rhonda E., Slee, Jennie, Singer, Steven L., Staffenberg, David A., Timms, Andrew E., Wise, Cheryl A., Zarante, Ignacio, Saint-Jeannet, Jean-Pierre, Luquetti, Daniela V.
Published in Nature communications (03.08.2021)
Published in Nature communications (03.08.2021)
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Colorectal and Other Cancer Risks for Carriers and Noncarriers From Families With a DNA Mismatch Repair Gene Mutation: A Prospective Cohort Study
AUNG KO WIN, YOUNG, Joanne P, MACRAE, Finlay A, GOLDBLATT, Jack, SOUTHEY, Melissa C, ARNOLD, Julie, THIBODEAU, Stephen N, GUNAWARDENA, Shanaka R, BAPAT, Bharati, BARON, John A, CASEY, Graham, GALLINGER, Steven, LINDOR, Noralane M, MARCHAND, Loïc Le, NEWCOMB, Polly A, HAILE, Robert W, HOPPER, John L, JENKINS, Mark A, TUCKER, Katherine M, AHNEN, Dennis J, YOUNG, Graeme P, BUCHANAN, Daniel D, CLENDENNING, Mark, GILES, Graham G, WINSHIP, Ingrid
Published in Journal of clinical oncology (20.03.2012)
Published in Journal of clinical oncology (20.03.2012)
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Dominantly Inherited Constitutional Epigenetic Silencing of MLH1 in a Cancer-Affected Family Is Linked to a Single Nucleotide Variant within the 5′UTR
Hitchins, Megan P., Rapkins, Robert W., Kwok, Chau-To, Srivastava, Sameer, Wong, Justin J.L., Khachigian, Levon M., Polly, Patsie, Goldblatt, Jack, Ward, Robyn L.
Published in Cancer cell (01.08.2011)
Published in Cancer cell (01.08.2011)
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Journal Article
Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study
Jahan, Sadia, Sarathchandran, Subashini, Akhter, Shamina, Goldblatt, Jack, Stark, Samantha, Crawford, Douglas, Mallett, Andrew, Thomas, Mark
Published in Orphanet journal of rare diseases (13.01.2020)
Published in Orphanet journal of rare diseases (13.01.2020)
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Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan
Stattin, Eva-Lena, Lindblom, Karin, Struglics, André, Önnerfjord, Patrik, Goldblatt, Jack, Dixit, Abhijit, Sarkar, Ajoy, Randell, Tabitha, Suri, Mohnish, Raggio, Cathleen, Davis, Jessica, Carter, Erin, Aspberg, Anders
Published in Scientific reports (25.03.2022)
Published in Scientific reports (25.03.2022)
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Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children
Song, Yong, Higgins, Hilda, Guo, Jing, Harrison, Katrina, Schultz, En Nee, Hales, Belinda J, Moses, Eric K, Goldblatt, Jack, Pachter, Nicholas, Zhang, Guicheng
Published in Journal of translational medicine (27.02.2018)
Published in Journal of translational medicine (27.02.2018)
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Journal Article
The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service
Baynam, Gareth, Pachter, Nicholas, McKenzie, Fiona, Townshend, Sharon, Slee, Jennie, Kiraly-Borri, Cathy, Vasudevan, Anand, Hawkins, Anne, Broley, Stephanie, Schofield, Lyn, Verhoef, Hedwig, Walker, Caroline E, Molster, Caron, Blackwell, Jenefer M, Jamieson, Sarra, Tang, Dave, Lassmann, Timo, Mina, Kym, Beilby, John, Davis, Mark, Laing, Nigel, Murphy, Lesley, Weeramanthri, Tarun, Dawkins, Hugh, Goldblatt, Jack
Published in Orphanet journal of rare diseases (11.06.2016)
Published in Orphanet journal of rare diseases (11.06.2016)
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Design of a framework for the deployment of collaborative independent rare disease-centric registries: Gaucher disease registry model
Bellgard, Matthew I., Napier, Kathryn R., Bittles, Alan H., Szer, Jeffrey, Fletcher, Sue, Zeps, Nikolajs, Hunter, Adam A., Goldblatt, Jack
Published in Blood cells, molecules, & diseases (01.02.2018)
Published in Blood cells, molecules, & diseases (01.02.2018)
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Initiating an undiagnosed diseases program in the Western Australian public health system
Baynam, Gareth, Broley, Stephanie, Bauskis, Alicia, Pachter, Nicholas, McKenzie, Fiona, Townshend, Sharron, Slee, Jennie, Kiraly-Borri, Cathy, Vasudevan, Anand, Hawkins, Anne, Schofield, Lyn, Helmholz, Petra, Palmer, Richard, Kung, Stefanie, Walker, Caroline E, Molster, Caron, Lewis, Barry, Mina, Kym, Beilby, John, Pathak, Gargi, Poulton, Cathryn, Groza, Tudor, Zankl, Andreas, Roscioli, Tony, Dinger, Marcel E, Mattick, John S, Gahl, William, Groft, Stephen, Tifft, Cynthia, Taruscio, Domenica, Lasko, Paul, Kosaki, Kenjiro, Wilhelm, Helene, Melegh, Bela, Carapetis, Jonathan, Jana, Sayanta, Chaney, Gervase, Johns, Allison, Owen, Peter Wynn, Daly, Frank, Weeramanthri, Tarun, Dawkins, Hugh, Goldblatt, Jack
Published in Orphanet journal of rare diseases (03.05.2017)
Published in Orphanet journal of rare diseases (03.05.2017)
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Journal Article
Model consent clauses for rare disease research
Nguyen, Minh Thu, Goldblatt, Jack, Isasi, Rosario, Jagut, Marlene, Jonker, Anneliene Hechtelt, Kaufmann, Petra, Ouillade, Laetitia, Molnar-Gabor, Fruszina, Shabani, Mahsa, Sid, Eric, Tassé, Anne Marie, Wong-Rieger, Durhane, Knoppers, Bartha Maria
Published in BMC medical ethics (01.08.2019)
Published in BMC medical ethics (01.08.2019)
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Journal Article
Population‐based screening for Lynch syndrome in Western Australia
Schofield, Lyn, Grieu, Fabienne, Amanuel, Benhur, Carrello, Amerigo, Spagnolo, Dominic, Kiraly, Cathy, Pachter, Nicholas, Goldblatt, Jack, Platell, Cameron, Levitt, Michael, Stewart, Colin, Salama, Paul, Ee, Hooi, Raftopoulous, Spiro, Katris, Paul, Threlfall, Tim, Edkins, Edward, Wallace, Marina, Iacopetta, Barry
Published in International journal of cancer (01.09.2014)
Published in International journal of cancer (01.09.2014)
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Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry
Walsh, Michael D, Buchanan, Daniel D, Pearson, Sally-Ann, Clendenning, Mark, Jenkins, Mark A, Win, Aung Ko, Walters, Rhiannon J, Spring, Kevin J, Nagler, Belinda, Pavluk, Erika, Arnold, Sven T, Goldblatt, Jack, George, Jill, Suthers, Graeme K, Phillips, Kerry, Hopper, John L, Jass, Jeremy R, Baron, John A, Ahnen, Dennis J, Thibodeau, Stephen N, Lindor, Noralane, Parry, Susan, Walker, Neal I, Rosty, Christophe, Young, Joanne P
Published in Modern pathology (01.05.2012)
Published in Modern pathology (01.05.2012)
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The Relationship between Infant Airway Function, Childhood Airway Responsiveness, and Asthma
Turner, Stephen W, Palmer, Lyle J, Rye, Peter J, Gibson, Neil A, Judge, Parveenjeet K, Cox, Moreen, Young, Sally, Goldblatt, Jack, Landau, Louis I, Le Souef, Peter N
Published in American journal of respiratory and critical care medicine (15.04.2004)
Published in American journal of respiratory and critical care medicine (15.04.2004)
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Journal Article
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer
Hitchins, Megan, Williams, Rachel, Cheong, Kayfong, Halani, Nimita, Lin, Vita A P, Packham, Deborah, Ku, Sue, Buckle, Andrew, Hawkins, Nicholas, Burn, John, Gallinger, Steven, Goldblatt, Jack, Kirk, Judy, Tomlinson, Ian, Scott, Rodney, Spigelman, Allan, Suter, Catherine, Martin, David, Suthers, Graeme, Ward, Robyn
Published in Gastroenterology (New York, N.Y. 1943) (01.11.2005)
Published in Gastroenterology (New York, N.Y. 1943) (01.11.2005)
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Journal Article
Heterogeneous Staining for Mismatch Repair Proteins during Population-Based Prescreening for Hereditary Nonpolyposis Colorectal Cancer
Watson, Natasha, Grieu, Fabienne, Morris, Melinda, Harvey, Jennet, Stewart, Colin, Schofield, Lyn, Goldblatt, Jack, Iacopetta, Barry
Published in The Journal of molecular diagnostics : JMD (01.09.2007)
Published in The Journal of molecular diagnostics : JMD (01.09.2007)
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Journal Article
Interleukin-10 (IL-10) Polymorphisms Are Associated with IL-10 Production and Clinical Malaria in Young Children
GUICHENG ZHANG, NELIA MANACA, Maria, QUINTO, Llorenç, CANDELARIA, Pierre, NEE SCHULTZ, En, HAYDEN, Catherine M, GOLDBLATT, Jack, GUINOVART, Caterina, ALONSO, Pedro L, LESOUËF, Peter N, DOBANO, Carlota, MCNAMARA-SMITH, Michelle, MAYOR, Alfredo, NHABOMBA, Augusto, KATHERINE BERTHOUD, Tamara, KHOO, Siew-Kim, WIERTSEMA, Selma, AGUILAR, Ruth, BARBOSA, Arnoldo
Published in Infection and Immunity (01.07.2012)
Published in Infection and Immunity (01.07.2012)
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The era of genome-wide association studies: opportunities and challenges for asthma genetics
Zhang, Guicheng, Goldblatt, Jack, LeSouëf, Peter
Published in Journal of human genetics (01.11.2009)
Published in Journal of human genetics (01.11.2009)
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Journal Article
A flexible computational pipeline for research analyses of unsolved clinical exome cases
Lassmann, Timo, Francis, Richard W, Weeks, Alexia, Tang, Dave, Jamieson, Sarra E, Broley, Stephanie, Dawkins, Hugh J S, Dreyer, Lauren, Goldblatt, Jack, Groza, Tudor, Kamien, Benjamin, Kiraly-Borri, Cathy, McKenzie, Fiona, Murphy, Lesley, Pachter, Nicholas, Pathak, Gargi, Poulton, Cathryn, Samanek, Amanda, Skoss, Rachel, Slee, Jennie, Townshend, Sharron, Ward, Michelle, Baynam, Gareth S, Blackwell, Jenefer M
Published in Npj genomic medicine (10.12.2020)
Published in Npj genomic medicine (10.12.2020)
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