Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years

Authors: Jayasinghe, Kushani, Biros, Erik, Harris, Trudie, Wood, Alasdair, O’Shea, Rosie, Hill, Lauren, Fowles, Lindsay, Wardrop, Louise, Shalhoub, Carolyn, Hahn, Deirdre, Rangan, Gopala, Kevin, Lucy, Tchan, Michel, Snelling, Paul, Sandow, Rhiannon, Sundaram, Madhivan, Chaturvedi, Swasti, Trnka, Peter, Faull, Randall, Poplawski, Nicola K., Huntley, Vanessa, Garza, Denisse, Wallis, Mathew, Jose, Matthew, Leaver, Anna, Trainer, Alison H., Wilkins, Ella J., White, Sue, Elbaum, Yoni, Prawer, Yael, Krzesinski, Emma, Valente, Giulia, Winship, Ingrid, Ryan, Jessica, Whitlam, John, Nicholls, Kathy, West, Kirsty, Donaldson, Liz, Johnstone, Lilian, Lewit-Mendes, Miranda, Kerr, Peter G., Bodek, Simon, Chakera, Aron, MacShane, Mandi, Mincham, Christine, Stackpoole, Elaine, Willis, Francis, Soraru, Jacqueline, Pachter, Nick, Bennetts, Bruce, Forbes, Thomas A., Mallawaarachchi, Amali, Quinlan, Catherine, Patel, Chirag, McCarthy, Hugh, Goranitis, Illias, Best, Stephanie, Alexander, Stephen, Stark, Zornitza, Mallett, Andrew J.

Source: In Kidney International Reports August 2024 9(8):2372-2385

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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Authors: Abdulrasool, Ghusoon, Akesson, Lauren S., Al Eryani, Ghamdan, Al-Shinnag, Mohammad, Arts, Peer, Bagnall, Richard, Baker, Naomi L., Barnett, Christopher, Beecroft, Sarah, Bennetts, Bruce, Berbic, Marina, Beshay, Victoria, Black, Michael, Blackburn, Jim, Blombery, Piers, Boggs, Kirsten, Bournazos, Adam M., Branford, Susan, Breen, Jimmy, Brown, Natasha J., Bryen, Samantha J., Burnett, Leslie, Canson, Daffodil, Cheong, Pak, Chew, Edward, Chong, Belinda, Christodoulou, John, Chung, Seo-Kyung, Clark, Mike, Cliffe, Corrina, Cole, Melissa, Collins, Felicity, Compton, Alison, Cooper, Antony, Cooper, Sandra T., Corbett, Mark, Cowley, Mark, Davis, Mark R., Delatycki, Martin, Dudding, Tracy, Edwards, Matthew, Eggers, Stefanie, Ewans, Lisa J., Eyras, Eduardo, Faiz, Fathimath, Fernandez, Miriam Fanjul, Fellowes, Andrew, Fennell, Andrew, Field, Michael, Fleischer, Ron, Folland, Chiara, Fox, Lucy, Freckmann, Mary-Louise, Gaff, Clara, Galea, Melanie, Ghaoui, Roula, Goel, Himanshu, Gornanitis, Ilias, Ha, Thuong, Hanna, Bernadette, Harraway, James, Hayashi, Rippei, Hayes, Ian, Henderson, Alex, Hesson, Luke, Heyer, Erin, Hildebrand, Michael, Hipwell, Michael, Ho, Gladys, Horton, Ari E., Hoskins, Cass, Hunter, Matthew F., Jackson, Matilda, James, Paul, Jones, Kristi J., Wong, Justin Jong-Leong, Josephi-Taylor, Sarah, Joshi, Himanshu, Kassahn, Karin, Kaub, Peter, Kevin, Lucy, Kirk, Edwin, Krzesinski, Emma, Kumble, Smitha, Kummerfeld, Sarah, Laing, Nigel, Lau, Chiyan, Lee, Eric, Leighton, Sarah, Lundie, Ben, Lunke, Sebastian, Mallawaarachchi, Amali, Mayoh, Chelsea, McGaughran, Julie, McLean, Alison, McPhillips, Mary, Meldrum, Cliff, Middleton, Edwina, Milnes, Di, Mina, Kym, Mowat, David, Nisselle, Amy, Oates, Emily, Oshlack, Alicia, Palmer, Elizabeth E., Parasivam, Gayathri, Parsons, Michael, Patel, Chirag, Pinner, Jason R., Quinn, Michael, Rasko, John, Ravenscroft, Gina, Ravine, Anja, Recsei, Krista, Regan, Matthew, Rehn, Jacqueline, Riley, Lisa G., Robertson, Stephen, Ronan, Anne, Roscioli, Tony, Ryland, Georgina, Sadedin, Simon, Sandaradura, Sarah A., Schreiber, Andreas, Scott, Hamish, Scott, Rodney, Semsarian, Christopher, Simons, Cas, Singer, Emma, Smith, Janine M., Smyth, Renee, Spurdle, Amanda, Stark, Zornitza, Sullivan, Patricia, Sundercombe, Samantha, Tan, Tiong Y., Tchan, Michel C., Thompson, Bryony A., Thorburn, David, Toubia, John, Trent, Ronald, Tudini, Emma, Voneague, Irina, Waddell, Leigh, Walker, Logan, Wallis, Mathew, Warnock, Nick, Weatheritt, Robert, White, Deborah, White, Susan M., Williams, Mark G., Wilson, Meredith J., Winship, Ingrid, Worgan, Lisa, Wright, Dale C., Wu, Kathy, Yeung, Alison, Ziolowski, Andrew, Bommireddipalli, Shobhana, Ades, Lesley, Alexander, Stephen I., Archibald, Alison D., Balasubramaniam, Shanti, Berman, Yemima, Bojadzieva, Jasmina, Buckley, Michael F., Dawes, Ruebena, Donaldson, Liz, Downie, Lilian, Edwards, Caitlin, Engel, Amanda, Gallacher, Lyndon, Gear, Russell, Goh, Shuxiang, Goodwin, Linda, Higgins, Megan, Hopper, Bruce K., Huq, Aamira J., Kumar, Kishore R., Lemckert, Frances, Leventer, Richard J., Lindsey-Temple, Suzanna E., Ma, Alan, Macaskill, Steven, Marty, Melanie, Marum, Justine E., McCarthy, Hugh J., Menezes, Manoj P., Mohammad, Shekeeb, Niaz, Aram, Patel, Shilpan G., Phelan, Dean, Rajagopalan, Sulekha, Rodgers, Jonathan, Rodrigues, Miriam, Roxburgh, Richard H., Sachdev, Rani, Samarasekera, Ruvishani, Savva, Elena, Schindler, Tim, Shah, Margit, Sinnerbrink, Ingrid B., Smith, Richard J., Springer, Amanda, Strom, Samuel P., Sue, Carolyn M., Tan, Kenneth, Tantsis, Esther, Trainer, Alison H., van Spaendonck-Zwarts, Karin, Walsh, Rebecca, Warwick, Linda, White, Stephanie, Wong, Wui Kwan, Yap, Patrick, Young, Helen

Source: In Genetics in Medicine January 2022 24(1):130-145

Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine.

Authors: Ma, Alan, Newing, Timothy P, O'Shea, Rosie, Gokoolparsadh, Akira, Murdoch, Emma, Hayward, Janette, Shannon, Gillian, Kevin, Lucy, Bennetts, Bruce, Ho, Gladys, Smith, Janine, Shah, Margit, Jones, Kristi J, Josephi‐Taylor, Sarah, Sandaradura, Sarah A, Adès, Lesley, Jamieson, Robyn, Rankin, Nicole M

Source: Journal of Paediatrics & Child Health; Apr/May2024, Vol. 60 Issue 4/5, p118-124, 7p

Subject Terms: INDIVIDUALIZED medicine, GENETIC models, MEDICAL genetics, CHILDREN'S hospitals, PEDIATRIC neurology, NEUROLOGY

Geographic Terms: NEW South Wales, AUSTRALIA

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Authors: Bournazos, Adam M., Riley, Lisa G., Bommireddipalli, Shobhana, Ades, Lesley, Akesson, Lauren S., Al-Shinnag, Mohammad, Alexander, Stephen I., Archibald, Alison D., Balasubramaniam, Shanti, Berman, Yemima, Beshay, Victoria, Boggs, Kirsten, Bojadzieva, Jasmina, Brown, Natasha J., Bryen, Samantha J., Buckley, Michael F., Chong, Belinda, Davis, Mark R., Dawes, Ruebena, Delatycki, Martin, Donaldson, Liz, Downie, Lilian, Edwards, Caitlin, Edwards, Matthew, Engel, Amanda, Ewans, Lisa J., Faiz, Fathimath, Fennell, Andrew, Field, Michael, Freckmann, Mary-Louise, Gallacher, Lyndon, Gear, Russell, Goel, Himanshu, Goh, Shuxiang, Goodwin, Linda, Hanna, Bernadette, Harraway, James, Higgins, Megan, Ho, Gladys, Hopper, Bruce K., Horton, Ari E., Hunter, Matthew F., Huq, Aamira J., Josephi-Taylor, Sarah, Joshi, Himanshu, Kirk, Edwin, Krzesinski, Emma, Kumar, Kishore R., Lemckert, Frances, Leventer, Richard J., Lindsey-Temple, Suzanna E., Lunke, Sebastian, Ma, Alan, Macaskill, Steven, Mallawaarachchi, Amali, Marty, Melanie, Marum, Justine E., McCarthy, Hugh J., Menezes, Manoj P., McLean, Alison, Milnes, Di, Mohammad, Shekeeb, Mowat, David, Niaz, Aram, Palmer, Elizabeth E., Patel, Chirag, Patel, Shilpan G., Phelan, Dean, Pinner, Jason R., Rajagopalan, Sulekha, Regan, Matthew, Rodgers, Jonathan, Rodrigues, Miriam, Roxburgh, Richard H., Sachdev, Rani, Roscioli, Tony, Samarasekera, Ruvishani, Sandaradura, Sarah A., Savva, Elena, Schindler, Tim, Shah, Margit, Sinnerbrink, Ingrid B., Smith, Janine M., Smith, Richard J., Springer, Amanda, Stark, Zornitza, Strom, Samuel P., Sue, Carolyn M., Tan, Kenneth, Tan, Tiong Y., Tantsis, Esther, Tchan, Michel C., Thompson, Bryony A., Trainer, Alison H., van Spaendonck-Zwarts, Karin, Walsh, Rebecca, Warwick, Linda, White, Stephanie, White, Susan M., Williams, Mark G., Wilson, Meredith J., Wong, Wui Kwan, Wright, Dale C., Yap, Patrick, Yeung, Alison, Young, Helen, Jones, Kristi J., Bennetts, Bruce, Cooper, Sandra T., Abdulrasool, Ghusoon, Akesson, Lauren S., Al Eryani, Ghamdan, Al-Shinnag, Mohammad, Arts, Peer, Bagnall, Richard, Baker, Naomi L., Barnett, Christopher, Beecroft, Sarah, Bennetts, Bruce, Berbic, Marina, Beshay, Victoria, Black, Michael, Blackburn, Jim, Blombery, Piers, Boggs, Kirsten, Bournazos, Adam M., Branford, Susan, Breen, Jimmy, Brown, Natasha J., Bryen, Samantha J., Burnett, Leslie, Canson, Daffodil, Cheong, Pak, Chew, Edward, Chong, Belinda, Christodoulou, John, Chung, Seo-Kyung, Clark, Mike, Cliffe, Corrina, Cole, Melissa, Collins, Felicity, Compton, Alison, Cooper, Antony, Cooper, Sandra T., Corbett, Mark, Cowley, Mark, Davis, Mark R., Delatycki, Martin, Dudding, Tracy, Edwards, Matthew, Eggers, Stefanie, Ewans, Lisa J., Eyras, Eduardo, Faiz, Fathimath, Fernandez, Miriam Fanjul, Fellowes, Andrew, Fennell, Andrew, Field, Michael, Fleischer, Ron, Folland, Chiara, Fox, Lucy, Freckmann, Mary-Louise, Gaff, Clara, Galea, Melanie, Ghaoui, Roula, Goel, Himanshu, Gornanitis, Ilias, Ha, Thuong, Hanna, Bernadette, Harraway, James, Hayashi, Rippei, Hayes, Ian, Henderson, Alex, Hesson, Luke, Heyer, Erin, Hildebrand, Michael, Hipwell, Michael, Ho, Gladys, Horton, Ari E., Hoskins, Cass, Hunter, Matthew F., Jackson, Matilda, James, Paul, Jones, Kristi J., Wong, Justin Jong-Leong, Josephi-Taylor, Sarah, Joshi, Himanshu, Kassahn, Karin, Kaub, Peter, Kevin, Lucy, Kirk, Edwin, Krzesinski, Emma, Kumble, Smitha, Kummerfeld, Sarah, Laing, Nigel, Lau, Chiyan, Lee, Eric, Leighton, Sarah, Lundie, Ben, Lunke, Sebastian, Mallawaarachchi, Amali, Mayoh, Chelsea, McGaughran, Julie, McLean, Alison, McPhillips, Mary, Meldrum, Cliff, Middleton, Edwina, Milnes, Di, Mina, Kym, Mowat, David, Nisselle, Amy, Oates, Emily, Oshlack, Alicia, Palmer, Elizabeth E., Parasivam, Gayathri, Parsons, Michael, Patel, Chirag, Pinner, Jason R., Quinn, Michael, Rasko, John, Ravenscroft, Gina, Ravine, Anja, Recsei, Krista, Regan, Matthew, Rehn, Jacqueline, Riley, Lisa G., Robertson, Stephen, Ronan, Anne, Roscioli, Tony, Ryland, Georgina, Sadedin, Simon, Sandaradura, Sarah A., Schreiber, Andreas, Scott, Hamish, Scott, Rodney, Semsarian, Christopher, Simons, Cas, Singer, Emma, Smith, Janine M., Smyth, Renee, Spurdle, Amanda, Stark, Zornitza, Sullivan, Patricia, Sundercombe, Samantha, Tan, Tiong Y., Tchan, Michel C., Thompson, Bryony A., Thorburn, David, Toubia, John, Trent, Ronald, Tudini, Emma, Voneague, Irina, Waddell, Leigh, Walker, Logan, Wallis, Mathew, Warnock, Nick, Weatheritt, Robert, White, Deborah, White, Susan M., Williams, Mark G., Wilson, Meredith J., Winship, Ingrid, Worgan, Lisa, Wright, Dale C., Wu, Kathy, Yeung, Alison, Ziolowski, Andrew

Source: Genetics in Medicine; January 2022, Vol. 24 Issue: 1 p130-145, 16p

Kiss the Bride

Authors: Kevin, Lucy