Cost-effectiveness of predictive genetic tests for familial breast and ovarian cancer

por Breheny, Nikki, Geelhoed, Elizabeth, Goldblatt, Jack, O'Leary, Peter
Publicado 2005

Th2 Cytokine Levels Distort the Association of IL-10 and IFN-γ with Allergic Phenotypes

por Zhang, Guicheng, Hayden, Catherine M., Goldblatt, Jack, Holt, Patrick, Le Souëf, Peter N.
Publicado 2011

HABP2 germline variants are uncommon in familial nonmedullary thyroid cancer

por Weeks, Alexia L., Wilson, Scott G., Ward, Lynley, Goldblatt, Jack, Hui, Jennie, Walsh, John P.
Publicado 2016

Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study

por Jahan, Sadia, Sarathchandran, Subashini, Akhter, Shamina, Goldblatt, Jack, Stark, Samantha, Crawford, Douglas, Mallett, Andrew, Thomas, Mark
Publicado 2020

Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

por Weinreb, Neal J., Goldblatt, Jack, Villalobos, Jacobo, Charrow, Joel, Cole, J. Alexander, Kerstenetzky, Marcelo, vom Dahl, Stephan, Hollak, Carla
Publicado 2012

Erratum to: Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

por Weinreb, Neal J., Goldblatt, Jack, Villalobos, Jacobo, Charrow, Joel, Cole, J. Alexander, Kerstenetzky, Marcelo, vom Dahl, Stephan, Hollak, Carla
Publicado 2013

Design of a framework for the deployment of collaborative independent rare disease-centric registries: Gaucher disease registry model

por Bellgard, Matthew I., Napier, Kathryn R., Bittles, Alan H., Szer, Jeffrey, Fletcher, Sue, Zeps, Nikolajs, Hunter, Adam A., Goldblatt, Jack
Publicado 2018

Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children

por Song, Yong, Higgins, Hilda, Guo, Jing, Harrison, Katrina, Schultz, En Nee, Hales, Belinda J., Moses, Eric K., Goldblatt, Jack, Pachter, Nicholas, Zhang, Guicheng
Publicado 2018

Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan

por 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
Publicado 2022

Maternal Genetic Variants of IL4/IL13 Pathway Genes on IgE With "Western or Eastern Environments/Lifestyles"

por Zhang, Guicheng, Khoo, Siew-Kim, Mäkelä, Mika J, Candelaria, Pierre, Hayden, Catherine M, von Hertzen, Leena, Laatikainen, Tiina, Vartiainen, Erkki, Goldblatt, Jack, Haahtela, Tari, LeSouëf, Peter N
Publicado 2014

Model consent clauses for rare disease research

por 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
Publicado 2019

3-Dimensional Facial Analysis—Facing Precision Public Health

por Baynam, Gareth, Bauskis, Alicia, Pachter, Nicholas, Schofield, Lyn, Verhoef, Hedwig, Palmer, Richard L., Kung, Stefanie, Helmholz, Petra, Ridout, Michael, Walker, Caroline E., Hawkins, Anne, Goldblatt, Jack, Weeramanthri, Tarun S., Dawkins, Hugh J. S., Molster, Caron M.
Publicado 2017

Respiratory viruses in young South African children with acute lower respiratory infections and interactions with HIV

por Annamalay, Alicia A., Abbott, Salome, Sikazwe, Chisha, Khoo, Siew-Kim, Bizzintino, Joelene, Zhang, Guicheng, Laing, Ingrid, Chidlow, Glenys R., Smith, David W., Gern, James, Goldblatt, Jack, Lehmann, Deborah, Green, Robin J., Le Souëf, Peter N.
Publicado 2016

Plasma advanced oxidative protein products are associated with anti-oxidative stress pathway genes and malaria in a longitudinal cohort

por Zhang, Guicheng, Skorokhod, Oleksii A, Khoo, Siew-Kim, Aguilar, Ruth, Wiertsema, Selma, Nhabomba, Augusto J, Marrocco, Tiziana, McNamara-Smith, Michelle, Manaca, Maria Nelia, Barbosa, Arnoldo, Quintó, Llorenç, Hayden, Catherine M, Goldblatt, Jack, Guinovart, Caterina, Alonso, Pedro L, Dobaño, Carlota, Schwarzer, Evelin, LeSouëf, Peter N
Publicado 2014

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

por 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
Publicado 2016

A flexible computational pipeline for research analyses of unsolved clinical exome cases

por 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.
Publicado 2020

Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource

por Mann, Graham J, Thorne, Heather, Balleine, Rosemary L, Butow, Phyllis N, Clarke, Christine L, Edkins, Edward, Evans, Gerda M, Fereday, Sián, Haan, Eric, Gattas, Michael, Giles, Graham G, Goldblatt, Jack, Hopper, John L, Kirk, Judy, Leary, Jennifer A, Lindeman, Geoffrey, Niedermayr, Eveline, Phillips, Kelly-Anne, Picken, Sandra, Pupo, Gulietta M, Saunders, Christobel, Scott, Clare L, Spurdle, Amanda B, Suthers, Graeme, Tucker, Kathy, Chenevix-Trench, Georgia
Publicado 2006

Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome)

por Roberts, Aedan, Nancarrow, Derek, Clendenning, Mark, Buchanan, Daniel D., Jenkins, Mark A., Duggan, David, Taverna, Darin, McKeone, Diane, Walters, Rhiannon, Walsh, Michael D., Young, Bruce W., Jass, Jeremy R., Rosty, Christophe, Gattas, Michael, Pelzer, Elise, Hopper, John L., Goldblatt, Jack, George, Jill, Suthers, Graeme K., Phillips, Kerry, Parry, Susan, Woodall, Sonja, Arnold, Julie, Tucker, Kathy, Muir, Amanda, Drini, Musa, Macrae, Finlay, Newcomb, Polly, Potter, John D., Pavluk, Erika, Lindblom, Annika, Young, Joanne P.
Publicado 2010

Haploinsufficiency of SF3B2 causes craniofacial microsomia

por 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.
Publicado 2021

Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study

por Buchanan, Daniel D., Sweet, Kevin, Drini, Musa, Jenkins, Mark A., Win, Aung Ko, Gattas, Michael, Walsh, Michael D., Clendenning, Mark, McKeone, Diane, Walters, Rhiannon, Roberts, Aedan, Young, Alasdair, Hampel, Heather, Hopper, John L., Goldblatt, Jack, George, Jill, Suthers, Graeme K., Phillips, Kerry, Young, Graeme P., Chow, Elizabeth, Parry, Susan, Woodall, Sonja, Tucker, Kathy, Muir, Amanda, Field, Michael, Greening, Sian, Gallinger, Steven, Green, Jane, Woods, Michael O., Spaetgens, Renee, de la Chapelle, Albert, Macrae, Finlay, Walker, Neal I., Jass, Jeremy R., Young, Joanne P.
Publicado 2010