Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome
Baker, Emma K, Arpone, Marta, Vera, Solange Aliaga, Bretherton, Lesley, Ure, Alexandra, Kraan, Claudine M, Bui, Minh, Ling, Ling, Francis, David, Hunter, Matthew F, Elliott, Justine, Rogers, Carolyn, Field, Michael J, Cohen, Jonathan, Maria, Lorena Santa, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M, Amor, David J, Godler, David E
Published in Journal of neurodevelopmental disorders (26.12.2019)
Published in Journal of neurodevelopmental disorders (26.12.2019)
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Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features
Baker, Emma K, Arpone, Marta, Aliaga, Solange M, Bretherton, Lesley, Kraan, Claudine M, Bui, Minh, Slater, Howard R, Ling, Ling, Francis, David, Hunter, Matthew F, Elliott, Justine, Rogers, Carolyn, Field, Michael, Cohen, Jonathan, Cornish, Kim, Santa Maria, Lorena, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M, Amor, David J, Godler, David E
Published in Molecular autism (03.05.2019)
Published in Molecular autism (03.05.2019)
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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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Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests
Archibald, Alison Dalton, Smith, Melanie Jane, Burgess, Trent, Scarff, Katrina Louise, Elliott, Justine, Hunt, Clare Elizabeth, Barns-Jenkins, Caitlin, Holt, Chelsea, Sandoval, Karina, Siva Kumar, Vanessa, Ward, Lisa, Allen, Emily Caroline, Collis, Sarah Valerie, Cowie, Shannon, Francis, David, Delatycki, Martin B, Yiu, Eppie Mildred, Massie, R John, Pertile, Mark Domenic, du Sart, Desirée, Bruno, Damien, Amor, David J
Published in Genetics in medicine (01.05.2018)
Published in Genetics in medicine (01.05.2018)
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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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Experiences of receiving an increased chance of sex chromosome aneuploidy result from non‐invasive prenatal testing in Australia: “A more complicated scenario than what I had ever realized”
Lewit‐Mendes, Miranda F., Robson, Hazel, Kelley, Joanne, Elliott, Justine, Brown, Erica, Menezes, Melody, Archibald, Alison D.
Published in Journal of genetic counseling (01.02.2023)
Published in Journal of genetic counseling (01.02.2023)
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Mouse embryonic stem cell-derived embryoid bodies generate progenitors that integrate long term into renal proximal tubules in vivo
VIGNEAU, Cécile, POLGAR, Katalin, STRIKER, Gary, ELLIOTT, Justine, HYINK, Deborah, WEBER, Odile, FEHLING, Hans-Joerg, KELLER, Gordon, BURROW, Christopher, WILSON, Patricia
Published in Journal of the American Society of Nephrology (01.06.2007)
Published in Journal of the American Society of Nephrology (01.06.2007)
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Performance of a cell‐free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low‐risk cell‐free DNA screening
Scarff, Katrina L., Flowers, Nicola, Love, Clare J., Archibald, Alison D., Hunt, Clare E., Giouzeppos, Olivia, Elliott, Justine, Delatycki, Martin B., Pertile, Mark D.
Published in Prenatal diagnosis (01.02.2023)
Published in Prenatal diagnosis (01.02.2023)
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Lessons learned from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program
Cloney, Thomas, Gallacher, Lyndon, Pais, Lynn, 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, Sadedin, Simon, Lim, Sze Chern, Helman, Guy, Simons, Cas, MacArthur, Daniel G., Thorburn, David R, O’Donnell-Luria, Anne, Christodoulou, John, White, Susan M., Tan, Tiong Yang
Published in Journal of medical genetics (05.11.2021)
Published in Journal of medical genetics (05.11.2021)
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Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X
Arpone, Marta, Baker, Emma K., Bretherton, Lesley, Bui, Minh, Li, Xin, Whitaker, Simon, Dissanayake, Cheryl, Cohen, Jonathan, Hickerton, Chriselle, Rogers, Carolyn, Field, Mike, Elliott, Justine, Aliaga, Solange M., Ling, Ling, Francis, David, Hearps, Stephen J. C., Hunter, Matthew F., Amor, David J., Godler, David E.
Published in Scientific reports (26.02.2018)
Published in Scientific reports (26.02.2018)
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Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023
Mallawaarachchi, Amali, Biros, Erik, Harris, Trudie, Bennetts, Bruce, Boughtwood, Tiffany, Elliott, Justine, Fowles, Lindsay, Gardos, Robert, Garza, Denisse, Goranitis, Ilias, Haas, Matilda, Huntley, Vanessa, Jefferis, Julia, Kassahn, Karin, Leaver, Anna, Lundie, Ben, Lunke, Sebastian, O'Connor, Caitlin, Pratt, Greg, Quinlan, Catherine, Shearman, Dianne, Soraru, Jacqueline, Sundaram, Madhivanan, Tchan, Michel, Valente, Giulia, White, Julie, Wilkins, Ella, Alexander, Steve I, Amir, Noa, Best, Stephanie, Gul, Hossai, Jayasinghe, Kushani, McCarthy, Hugh, Patel, Chirag, Stark, Zornitza, Mallett, Andrew J
Published in Human genomics (17.08.2024)
Published in Human genomics (17.08.2024)
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Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests
Archibald, Alison Dalton, Smith, Melanie Jane, Burgess, Trent, Scarff, Katrina Louise, Elliott, Justine, Hunt, Clare Elizabeth, Barns-Jenkins, Caitlin, Holt, Chelsea, Sandoval, Karina, Kumar, Vanessa Siva, Ward, Lisa, Allen, Emily Caroline, Collis, Sarah Valerie, Cowie, Shannon, Francis, David, Delatycki, Martin B, Yiu, Eppie Mildred, Massie, R John, Pertile, Mark Domenic, du Sart, Desirée, Bruno, Damien, Amor, David J
Published in Genetics in medicine (01.11.2018)
Published in Genetics in medicine (01.11.2018)
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Rapid genomic testing in acute paediatric care: Is it worth the trouble?
Stark, Zornitza, Lunke, Sebastian, Brett, Gemma R., Tan, Natalie B., Stapleton, Rachel, Kumble, Smitha, Yeung, Alison, Phelan, Dean G., Chong, Belinda, Fernandez, Miriam Fanjul, 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 Pathology (01.02.2018)
Published in Pathology (01.02.2018)
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