Large n- and p-type thermoelectric power factors from doped semiconducting single-walled carbon nanotube thin films von MacLeod, Bradley A., Stanton, Noah J., Gould, Isaac E., Wesenberg, Devin, Ihly, Rachelle, Owczarczyk, Zbyslaw R., Hurst, Katherine E., Fewox, Christopher S., Folmar, Christopher N., Holman Hughes, Katherine, Zink, Barry L., Blackburn, Jeffrey L., Ferguson, Andrew J.

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Intervention targeting development of socially synchronous engagement in toddlers with autism spectrum disorder: a randomized controlled trial von Landa, Rebecca J., Holman, Katherine C., O'Neill, Allison H., Stuart, Elizabeth A.

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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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Revealing hidden genetic diagnoses in the ocular anterior segment disorders von 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.

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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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Genome sequencing in congenital cataracts improves diagnostic yield von Ma, Alan, Grigg, John R., Flaherty, Maree, Smith, James, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Slater, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Brown, Natasha J., Leighton, Sarah E., Amor, David J., Goel, Himanshu, Dinger, Marcel E., Bennetts, Bruce, Jamieson, Robyn V.

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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome von CARMIGNAC, Virginie, THEVENON, Julien, RENARD, Marjolijn, PLAUCHU, Henri, PLESSIS, Ghislaine, DE BACKER, Julie, CHILD, Anne, ARNO, Gavin, DUPLOMB, Laurence, CALLIER, Patrick, ARAL, Bernard, VABRES, Pierre, ADES, Lesley, GIGOT, Nadege, ARBUSTINI, Eloisa, GRASSO, Maurizia, ROBINSON, Peter N, GOIZET, Cyril, BAUMANN, Clarisse, DI ROCCO, Maja, DEL POZO, Jaime Sanchez, HUET, Frédéric, JONDEAU, Guillaume, CALLEWAERT, Bert, COLLOD-BEROUD, Gwenaelle, BEROUD, Christophe, AMIEL, Jeanne, CORMIER-DAIRE, Valérie, RIVIERE, Jean-Baptiste, BOILEAU, Catherine, DE PAEPE, Anne, FAIVRE, Laurence, JULIA, Sophie, THAUVIN-ROBINET, Christel, GUENEAU, Lucie, COURCET, Jean-Benoit, LOPEZ, Estelle, HOLMAN, Katherine

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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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Sexual History Taking and Sexually Transmitted Infection Screening in Patients Initiating Erectile Dysfunction Medication Therapy von Holman, Katherine M., Carr, James Andrew, Baddley, John W., Hook, Edward W.

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Rapid Plasma Reagin Titer Variation in the 2 Weeks After Syphilis Therapy von Holman, Katherine M., Wolff, Mark, Seña, Arlene C., Martin, David H., Behets, Frieda, Van Damme, Kathleen, Leone, Peter, McNeil, Linda, Gehrig, Meredyth L., Hook, Edward W.

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Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation von Mallett, Andrew J., Quinlan, Catherine, Patel, Chirag, Fowles, Lindsay, Crawford, Joanna, Gattas, Michael, Baer, Richard, Bennetts, Bruce, Ho, Gladys, Holman, Katherine, Simons, Cas

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Concurrent uvulitis and epiglottitis von Shomali, William, Holman, Katherine

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Ectopia lentis phenotypes and the FBN1 gene von Adès, Lesley C., Holman, Katherine J., Brett, Maggie S., Edwards, Matthew J., Bennetts, Bruce

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Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders von Mallett, Andrew J., McCarthy, Hugh J., Ho, Gladys, Holman, Katherine, Farnsworth, Elizabeth, Patel, Chirag, Fletcher, Jeffery T., Mallawaarachchi, Amali, Quinlan, Catherine, Bennetts, Bruce, Alexander, Stephen I.

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Social and Communication Development in Toddlers With Early and Later Diagnosis of Autism Spectrum Disorders von Landa, Rebecca J, Holman, Katherine C, Garrett-Mayer, Elizabeth

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Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study von Faivre, L., Collod-Beroud, G., Loeys, B.L., Child, A., Binquet, C., Gautier, E., Callewaert, B., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Kiotsekoglou, A., Comeglio, P., Marziliano, N., Dietz, H.C., Halliday, D., Beroud, C., Bonithon-Kopp, C., Claustres, M., Muti, C., Plauchu, H., Robinson, P.N., Adès, L.C., Biggin, A., Benetts, B., Brett, M., Holman, K.J., De Backer, J., Coucke, P., Francke, U., De Paepe, A., Jondeau, G., Boileau, C.

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International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium) von Jondeau, Guillaume, Ropers, Jacques, Regalado, Ellen, Braverman, Alan, Evangelista, Arturo, Teixedo, Guisela, De Backer, Julie, Muiño-Mosquera, Laura, Naudion, Sophie, Zordan, Cecile, Morisaki, Takayuki, Morisaki, Hiroto, Von Kodolitsch, Yskert, Dupuis-Girod, Sophie, Morris, Shaine A, Jeremy, Richmond, Odent, Sylvie, Adès, Leslie C, Bakshi, Madhura, Holman, Katherine, LeMaire, Scott, Milleron, Olivier, Langeois, Maud, Spentchian, Myrtille, Aubart, Melodie, Boileau, Catherine, Pyeritz, Reed, Milewicz, Dianna M

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Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy von Kothur, Kavitha, Holman, Katherine, Farnsworth, Elizabeth, Ho, Gladys, Lorentzos, Michelle, Troedson, Christopher, Gupta, Sachin, Webster, Richard, Procopis, Peter G., Menezes, Manoj P., Antony, Jayne, Ardern-Holmes, Simone, Dale, Russell C., Christodoulou, John, Gill, Deepak, Bennetts, Bruce

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Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation von Tudini, Emma, Andrews, James, Lawrence, David M., King-Smith, Sarah L., Baker, Naomi, Baxter, Leanne, Beilby, John, Bennetts, Bruce, Beshay, Victoria, Black, Michael, Boughtwood, Tiffany F., Brion, Kristian, Cheong, Pak Leng, Christie, Michael, Christodoulou, John, Cox, Kathy, Davis, Mark R., Dejong, Lucas, Dinger, Marcel E., Doig, Kenneth D., Douglas, Evelyn, Dubowsky, Andrew, Ellul, Melissa, Fellowes, Andrew, Fisk, Katrina, Fortuno, Cristina, Friend, Kathryn, Gallagher, Renee L., Gao, Song, Hackett, Emma, Hadler, Johanna, Hipwell, Michael, Ho, Gladys, Hollway, Georgina, Hooper, Amanda J., Kassahn, Karin S., Krishnaraj, Rahul, Lau, Chiyan, Le, Huong, San Leong, Huei, Lundie, Ben, Lunke, Sebastian, Marty, Anthony, McPhillips, Mary, Nguyen, Lan T., Nones, Katia, Palmer, Kristen, Pearson, John V., Quinn, Michael C.J., Rawlings, Lesley H., Sadedin, Simon, Sanchez, Louisa, Schreiber, Andreas W., Sigalas, Emanouil, Simsek, Aygul, Soubrier, Julien, Stark, Zornitza, Thompson, Bryony A., U, James, Vakulin, Cassandra G., Wells, Amanda V., Wise, Cheryl A., Woods, Rick, Ziolkowski, Andrew, Brion, Marie-Jo, Scott, Hamish S., Thorne, Natalie P., Spurdle, Amanda B., Akesson, Lauren, Allcock, Richard, Ashton, Katie, Bell, Damon A., Brown, Anna, Buckley, Michael, Burrows, Linda, Byrne, Alicia, Chan, Eva, Cliffe, Corrina, Clifton-Bligh, Roderick, Dooley, Susan, Fernandez, Miriam Fanjul, Farnsworth, Elizabeth, Ha, Thuong, Henry, Denae, Holds, Duncan, Holman, Katherine, Jackson, Matilda, Kang, Sinlay, Luxford, Catherine, McManus, Sam, Mehrtens, Rachael, Meldrum, Cliff, Pantaleo, Sarah-Jane, Phelan, Dean, Pontikinas, Electra, Ravine, Anja, Roscioli, Tony, Scott, Rodney, Simons, Keryn, Vanwageningen, Oliver

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