Precision medicine in Australia: now is the time to get it right

por O'Shea, Rosie, Ma, Alan S, Jamieson, Robyn V, Rankin, Nicole M
Publicado 2022

Patient-Reported Health-Related Quality of Life in Individuals with Inherited Retinal Diseases

por Schofield, Deborah, Kraindler, Joshua, Tan, Owen, Shrestha, Rupendra, Jelovic, Diana, West, Sarah, Ma, Alan, Grigg, John, Jamieson, Robyn V.
Publicado 2021

Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability

por Chahine Karam, Fidelle, Loi, To Ha, Ma, Alan, Nash, Benjamin M., Grigg, John R., Parekh, Darshan, Riley, Lisa G., Farnsworth, Elizabeth, Bennetts, Bruce, Gonzalez-Cordero, Anai, Jamieson, Robyn V.
Publicado 2022

Paediatric genomic testing: Navigating genomic reports for the general paediatrician

por Shah, Margit, Selvanathan, Arthavan, Baynam, Gareth, Berman, Yemima, Boughtwood, Tiffany, Freckmann, Mary‐Louise, Parasivam, Gayathri, White, Susan M, Grainger, Natalie, Kirk, Edwin P, Ma, Alan SL, Sachdev, Rani
Publicado 2021

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing

por Ma, Alan S., Grigg, John R., Ho, Gladys, Prokudin, Ivan, Farnsworth, Elizabeth, Holman, Katherine, Cheng, Anson, Billson, Frank A., Martin, Frank, Fraser, Clare, Mowat, David, Smith, James, Christodoulou, John, Flaherty, Maree, Bennetts, Bruce, Jamieson, Robyn V.
Publicado 2016

Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience

por Ma, Alan, Gurnasinghani, Sunita, Kirk, Edwin P., McClenaghan, Conor, Singh, Gautam K., Grange, Dorothy K., Pandit, Chetan, Zhu, Yung, Roscioli, Tony, Elakis, George, Buckley, Michael, Mehta, Bhavesh, Roberts, Philip, Mervis, Jonathan, Biggin, Andrew, Nichols, Colin G.
Publicado 2019

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development

por Eising, Else, Carrion-Castillo, Amaia, Vino, Arianna, Strand, Edythe A., Jakielski, Kathy J., Scerri, Thomas S., Hildebrand, Michael S., Webster, Richard, Ma, Alan, Mazoyer, Bernard, Francks, Clyde, Bahlo, Melanie, Scheffer, Ingrid E., Morgan, Angela T., Shriberg, Lawrence D., Fisher, Simon E.
Publicado 2018

Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies

por Nash, Benjamin M., Ma, Alan, Ho, Gladys, Farnsworth, Elizabeth, Minoche, Andre E., Cowley, Mark J., Barnett, Christopher, Smith, Janine M., Loi, To Ha, Wong, Karen, St Heaps, Luke, Wright, Dale, Dinger, Marcel E., Bennetts, Bruce, Grigg, John R., Jamieson, Robyn V.
Publicado 2022

Paediatric genomic testing: Navigating medicare rebatable genomic testing

por Sachdev, Rani, Field, Mike, Baynam, Gareth S, Beilby, John, Berarducci, Maria, Berman, Yemima, Boughtwood, Tiffany, Cusack, Marie B, Fitzgerald, Vanessa, Fletcher, Jeffery, Freckmann, Mary‐Louise, Grainger, Natalie, Kirk, Edwin, Lundie, Ben, Lunke, Sebastian, McGregor, Lesley, Mowat, David, Parasivam, Gayathri, Tyrell, Vanessa, Wallis, Mathew, White, Susan M, S L Ma, Alan
Publicado 2021

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

por Murray, Jennie E, Bicknell, Louise S, Yigit, Gökhan, Duker, Angela L, van Kogelenberg, Margriet, Haghayegh, Sara, Wieczorek, Dagmar, Kayserili, Hülya, Albert, Michael H, Wise, Carol A, Brandon, January, Kleefstra, Tjitske, Warris, Adilia, van der Flier, Michiel, Bamforth, J Steven, Doonanco, Kurston, Adès, Lesley, Ma, Alan, Field, Michael, Johnson, Diana, Shackley, Fiona, Firth, Helen, Woods, C Geoffrey, Nürnberg, Peter, Gatti, Richard A, Hurles, Matthew, Bober, Michael B, Wollnik, Bernd, Jackson, Andrew P
Publicado 2014

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

por Ma, Alan, Yousoof, Saira, Grigg, John R., Flaherty, Maree, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Fisk, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Karaconji, Tanya, Elder, James E., Enriquez, Annabelle, Wilson, Meredith, Amor, David J., Stutterd, Chloe A., Kamien, Benjamin, Nelson, John, Dinger, Marcel E., Bennetts, Bruce, Jamieson, Robyn V.
Publicado 2020

Targeted knockout of a chemokine-like gene increases anxiety and fear responses

por Choi, Jung-Hwa, Jeong, Yun-Mi, Kim, Sujin, Lee, Boyoung, Ariyasiri, Krishan, Kim, Hyun-Taek, Jung, Seung-Hyun, Hwang, Kyu-Seok, Choi, Tae-Ik, Park, Chul O, Huh, Won-Ki, Carl, Matthias, Rosenfeld, Jill A., Raskin, Salmo, Ma, Alan, Gecz, Jozef, Kim, Hyung-Goo, Kim, Jin-Soo, Shin, Ho-Chul, Park, Doo-Sang, Gerlai, Robert, Jamieson, Bradley B., Kim, Joon S., Iremonger, Karl J., Lee, Sang H., Shin, Hee-Sup, Kim, Cheol-Hee
Publicado 2018

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

por Dagar, Vinod, Hutchison, Wendy, Muscat, Andrea, Krishnan, Anita, Hoke, David, Buckle, Ashley, Siswara, Priscillia, Amor, David J., Mann, Jeffrey, Pinner, Jason, Colley, Alison, Wilson, Meredith, Sachdev, Rani, McGillivray, George, Edwards, Matthew, Kirk, Edwin, Collins, Felicity, Jones, Kristi, Taylor, Juliet, Hayes, Ian, Thompson, Elizabeth, Barnett, Christopher, Haan, Eric, Freckmann, Mary-Louise, Turner, Anne, White, Susan, Kamien, Ben, Ma, Alan, Mackenzie, Fiona, Baynam, Gareth, Kiraly-Borri, Cathy, Field, Michael, Dudding-Byth, Tracey, Algar, Elizabeth M.
Publicado 2018

WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase

por Waddell, Leigh B., Bryen, Samantha J., Cummings, Beryl B., Bournazos, Adam, Evesson, Frances J., Joshi, Himanshu, Marshall, Jamie L., Tukiainen, Taru, Valkanas, Elise, Weisburd, Ben, Sadedin, Simon, Davis, Mark R., Faiz, Fathimath, Gooding, Rebecca, Sandaradura, Sarah A., O'Grady, Gina L., Tchan, Michel C., Mowat, David R., Oates, Emily C., Farrar, Michelle A., Sampaio, Hugo, Ma, Alan, Neas, Katherine, Wang, Min-Xia, Charlton, Amanda, Chan, Charles, Kenwright, Diane N., Graf, Nicole, Arbuckle, Susan, Clarke, Nigel F., MacArthur, Daniel G., Jones, Kristi J., Lek, Monkol, Cooper, Sandra T.
Publicado 2021

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

por Whitman, Mary C., Barry, Brenda J., Robson, Caroline D., Facio, Flavia M., Van Ryzin, Carol, Chan, Wai-Man, Lehky, Tanya J., Thurm, Audrey, Zalewski, Christopher, King, Kelly A., Brewer, Carmen, Almpani, Konstantinia, Lee, Janice S., Delaney, Angela, FitzGibbon, Edmond J., Lee, Paul R., Toro, Camilo, Paul, Scott M., Abdul-Rahman, Omar A., Webb, Bryn D., Jabs, Ethylin Wang, Moller, Hans Ulrik, Larsen, Dorte Ancher, Antony, Jayne H., Troedson, Christopher, Ma, Alan, Ragnhild, Glad, Wirgenes, Katrine V., Tham, Emma, Kvarnung, Malin, Maarup, Timothy James, MacKinnon, Sarah, Hunter, David G., Collins, Francis S., Manoli, Irini, Engle, Elizabeth C.
Publicado 2021

Further delineation of the KAT6B molecular and phenotypic spectrum

por Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan FM, Smith, Janine, Clayton-Smith, Jill
Publicado 2015

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

por Guimier, Anne, Achleitner, Melanie T., Moreau de Bellaing, Anne, Edwards, Matthew, de Pontual, Loïc, Mittal, Kirti, Dunn, Kyla E., Grove, Megan E., Tysoe, Carolyn J., Dimartino, Clémantine, Cameron, Jessie, Kanthi, Anil, Shukla, Anju, van den Broek, Florence, Chatterjee, Diptendu, Alston, Charlotte L., Knowles, Charlotte V., Brett, Laura, Till, Jan A., Homfray, Tessa, French, Paul, Spentzou, Georgia, Elserafy, Noha A., Lichkus, Kate S., Sankaran, Bindu P., Kennedy, Hannah L., George, Peter M., Kidd, Alexa, Wortmann, Saskia B., Fisk, Dianna G., Koopmann, Tamara T., Rafiq, Muhammad A., Merker, Jason D., Parikh, Sumith, Ahimaz, Priyanka, Weintraub, Robert G., Ma, Alan S., Turner, Christian, Ellaway, Carolyn J., Phillips, Liza K., Thorburn, David R., Chung, Wendy K., Kana, Sajel L., Faye-Petersen, Ona M., Thompson, Michelle L., Janin, Alexandre, McLeod, Karen, McGowan, Ruth, McFarland, Robert, Girisha, Katta M., Morris-Rosendahl, Deborah J., Hurst, Anna C. E., Turner, Claire L. S., Hamilton, Robert M., Taylor, Robert W., Bajolle, Fanny, Gordon, Christopher T., Amiel, Jeanne, Mayr, Johannes A., Doudney, Kit
Publicado 2021