Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms von Forbes, Thomas A., Howden, Sara E., Lawlor, Kynan, Phipson, Belinda, Maksimovic, Jovana, Hale, Lorna, Wilson, Sean, Quinlan, Catherine, Ho, Gladys, Holman, Katherine, Bennetts, Bruce, Crawford, Joanna, Trnka, Peter, Oshlack, Alicia, Patel, Chirag, Mallett, Andrew, Simons, Cas, Little, Melissa H.

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Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing von 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.

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Therapy ready and information for life – the TRAIL study von Bennetts, Bruce

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Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants von Hudson, Rebecca, Patel, Chirag, Hawley, Carmel M., O’Shea, Stacey, Snelling, Paul, Ho, Gladys, Holman, Katherine, Bennetts, Bruce, Crawford, Joanna, Francis, Leo, Simons, Cas, Mallett, Andrew

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The role of exome sequencing in childhood interstitial or diffuse lung disease von Temple, Suzanna E. L, Ho, Gladys, Bennetts, Bruce, Boggs, Kirsten, Vidic, Nada, Mowat, David, Christodoulou, John, Schultz, André, Gayagay, Thet, Roscioli, Tony, Zhu, Ying, Lunke, Sebastian, Armstrong, David, Harrison, Joanne, Kapur, Nitin, McDonald, Tim, Selvadurai, Hiran, Tai, Andrew, Stark, Zornitza, Jaffe, Adam

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FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts von Kraan, Claudine M., Bui, Quang M., Field, Mike, Archibald, Alison D., Metcalfe, Sylvia A., Christie, Louise M., Bennetts, Bruce H., Oertel, Ralph, Smith, Melanie J., du Sart, Desiree, Bruno, Damien, Wotton, Tiffany L., Amor, David J., Francis, David, Godler, David E.

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Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade's experience von Saddi, Vishal, Beggs, Sean, Bennetts, Bruce, Harrison, Joanne, Hime, Neil, Kapur, Nitin, Lipsett, Jill, Nogee, Lawrence M, Phu, Amy, Suresh, Sadasivam, Schultz, André, Selvadurai, Hiran, Sherrard, Stephanie, Strachan, Roxanne, Vyas, Julian, Zurynski, Yvonne, Jaffé, Adam

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Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype von Klinken, Elizabeth M., Gray, Paul E., Pillay, Bethany, Worley, Lisa, Edwards, Emily S. J., Payne, Kathryn, Bennetts, Bruce, Hung, Dorothy, Wood, Ben A., Chan, Jonathan J., Marshall, Glenn M., Mitchell, Richard, Uzel, Gulbu, Ma, Cindy S., Tangye, Stuart G., McLean-Tooke, Andrew

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Newborn Genomic Sequencing Needs Confirmation but Not Repeating von Bennetts, Bruce, Ho, Gladys, Shin, Sarah, Cheong, Pak Leng, Wotton, Tiffany, Ranieri, Enzo, Pirreca, Shelley

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Paternal retraction of a fragile X allele to normal size, showing normal function over two generations von Bartlett, Essra, Archibald, Alison D., Francis, David, Ling, Ling, Thomas, Rob, Chandler, Gabrielle, Ward, Lisa, O'Farrell, Gemma, Pandelache, Alison, Delatycki, Martin B., Bennetts, Bruce H., Ho, Gladys, Fisk, Katrina, Baker, Emma K., Amor, David J., Godler, David E.

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Intronic variants in inborn errors of metabolism: Beyond the exome von Hertzog, Ashley, Selvanathan, Arthavan, Farnsworth, Elizabeth, Tchan, Michel, Adams, Louisa, Lewis, Katherine, Tolun, Adviye Ayper, Bennetts, Bruce, Ho, Gladys, Bhattacharya, Kaustuv

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RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution von Christodoulou, John, Grimm, Andrew, Maher, Tony, Bennetts, Bruce

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The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation von Archibald, Alison D, McClaren, Belinda J, Caruana, Jade, Tutty, Erin, King, Emily A, Halliday, Jane L, Best, Stephanie, Kanga-Parabia, Anaita, Bennetts, Bruce H, Cliffe, Corrina C, Madelli, Evanthia O, Ho, Gladys, Liebelt, Jan, Long, Janet C, Braithwaite, Jeffrey, Kennedy, Jillian, Massie, John, Emery, Jon D, McGaughran, Julie, Marum, Justine E, Boggs, Kirsten, Barlow-Stewart, Kristine, Burnett, Leslie, Dive, Lisa, Freeman, Lucinda, Davis, Mark R, Downes, Martin J, Wallis, Mathew, Ferrie, Monica M, Pachter, Nicholas, Scuffham, Paul A, Casella, Rachael, Allcock, Richard J N, Ong, Royston, Edwards, Samantha, Righetti, Sarah, Lunke, Sebastian, Lewis, Sharon, Walker, Susan P, Boughtwood, Tiffany F, Hardy, Tristan, Newson, Ainsley J, Kirk, Edwin P, Laing, Nigel G, Delatycki, Martin B, The Mackenzie's Mission Study Team

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Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023 von 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

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Recommendations from the maternal cell contamination working party von Bennetts, Bruce

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P534: Piloting an Australian quality assurance program interpretive module for genomic testing von Byrne, Alicia, Azmanov, Dimitar, Chai, Sze, Christodoulou, John, Haas, Matilda, Kassahn, Karin, Lundie, Ben, Lunke, Sebastian, Stott, Ami, Thompson, Bryony, Badrick, Tony, Bennetts, Bruce

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Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells von Nash, Benjamin M., Loi, To Ha, Fernando, Milan, Sabri, Amin, Robinson, James, Cheng, Anson, Eamegdool, Steven S., Farnsworth, Elizabeth, Bennetts, Bruce, Grigg, John R., Chung, Seo-Kyung, Gonzalez-Cordero, Anai, Jamieson, Robyn V.

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Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families von Tanudisastro, Hope A., Holman, Katherine, Ho, Gladys, Farnsworth, Elizabeth, Fisk, Katrina, Gayagay, Thet, Hackett, Emma, Jenkins, Gemma, Krishnaraj, Rahul, Lai, Tiffany, Wong, Karen, Patel, Chirag, Mallawaarachchi, Amali, Mallett, Andrew J., Bennetts, Bruce, Alexander, Stephen I., McCarthy, Hugh J.

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Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning von Sajeev, Mona, Chin, Sharon, Ho, Gladys, Bennetts, Bruce, Sankaran, Bindu Parayil, Gutierrez, Bea, Devanapalli, Beena, Tolun, Adviye Ayper, Wiley, Veronica, Fletcher, Janice, Fuller, Maria, Balasubramaniam, Shanti

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A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency von Hertzog, Ashley, Selvanathan, Arthavan, Halligan, Rebecca, Fazio, Timothy, Jong, Gerard, Bratkovic, Drago, Bhattacharya, Kaustuv, Tolun, Adviye Ayper, Bennetts, Bruce, Fisk, Katrina

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