Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people von Luke, Joanne, Dalach, Philippa, Tuer, Lindsay, Savarirayan, Ravi, Ferdinand, Angeline, McGaughran, Julie, Kowal, Emma, Massey, Libby, Garvey, Gail, Dawkins, Hugh, Jenkins, Misty, Paradies, Yin, Pearson, Glenn, Stutterd, Chloe A., Baynam, Gareth, Kelaher, Margaret

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Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review von Tan, Natalie B., Stapleton, Rachel, Stark, Zornitza, Delatycki, Martin B., Yeung, Alison, Hunter, Matthew F., Amor, David J., Brown, Natasha J., Stutterd, Chloe A., McGillivray, George, Yap, Patrick, Regan, Matthew, Chong, Belinda, Fanjul Fernandez, Miriam, Marum, Justine, Phelan, Dean, Pais, Lynn S., White, Susan M., Lunke, Sebastian, Tan, Tiong Y.

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Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing von Stutterd, Chloe A, Brock, Stefanie, Stouffs, Katrien, Fanjul-Fernandez, Miriam, Lockhart, Paul J, McGillivray, George, Mandelstam, Simone, Pope, Kate, Delatycki, Martin B, Jansen, Anna, Leventer, Richard J

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Speech, Language, and Oromotor Skills in Patients With Polymicrogyria von Braden, Ruth O., Boyce, Jessica O., Stutterd, Chloe A., Pope, Kate, Goel, Himanshu, Leventer, Richard J., Scheffer, Ingrid E., Morgan, Angela T.

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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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Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability von Francis, David I, Stark, Zornitza, Scheffer, Ingrid E, Tan, Tiong Yang, Murali, Krithika, Gallacher, Lyndon, Amor, David J, Goel, Himanshu, Downie, Lilian, Stutterd, Chloe A, Krzesinski, Emma I, Vasudevan, Anand, Oertel, Ralph, Petrovic, Vida, Boys, Amber, Wei, Vivian, Burgess, Trent, Dun, Karen, Oliver, Karen L, Baxter, Anne, Hackett, Anna, Ayres, Samantha, Lunke, Sebastian, Kalitsis, Paul, Wall, Meaghan

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The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective von Eratne, Dhamidhu, Schneider, Amy, Lynch, Ella, Martyn, Melissa, Velakoulis, Dennis, Fahey, Michael, Kwan, Patrick, Leventer, Richard, Rafehi, Haloom, Chong, Belinda, Stark, Zornitza, Lunke, Sebastian, Phelan, Dean G., O'Keefe, Melanie, Siemering, Kirby, West, Kirsty, Sexton, Adrienne, Jarmolowicz, Anna, Taylor, Jessica A., Schultz, Joshua, Purvis, Rebecca, Uebergang, Eloise, Chalinor, Heather, Creighton, Belinda, Gelfand, Nikki, Saks, Tamar, Prawer, Yael, Smagarinsky, Yana, Pan, Tianxin, Goranitis, Ilias, Ademi, Zanfina, Gaff, Clara, Huq, Aamira, Walsh, Maie, James, Paul A., Krzesinski, Emma I., Wallis, Mathew, Stutterd, Chloe A., Bahlo, Melanie, Delatycki, Martin B., Berkovic, Samuel F.

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Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy von Adang, Laura Ann, Groeschel, Samuel, Grzyb, Chloe, D'Aiello, Russell, Gavazzi, Francesco, Sherbini, Omar, Bronner, Nowa, Patel, Akshilkumar, Vincent, Ariel, Sevagamoorthy, Anjana, Mutua, Sylvia, Muirhead, Kayla, Schmidt, Johanna, Pizzino, Amy, Yu, Emily, Jin, Danielle, Eichler, Florian, Fraser, Jamie L., Emrick, Lisa, Van Haren, Keith, Boulanger, Jean-Martin, Ruzhnikov, Maura, Sylvain, Michel, Nguyen, Cam-Tu Émilie, Potic, Ana, Keller, Stephanie, Fatemi, Ali, Uebergang, Eloise, Poe, Michele, Yazdani, Pouneh Amir, Bernat, John, Lindstrom, Kristen, Bonkowsky, Joshua L., Bernard, Genevieve, Stutterd, Chloe A., Orchard, Paul, Gupta, Ashish O., Ljungberg, Merete, Groenborg, Sabine, Zambon, Alberto, Locatelli, Sara, Fumagalli, Francesca, Elguen, Saskia, Kehrer, Christiane, Krägeloh-Mann, Ingeborg, Shults, Justine, Vanderver, Adeline, Escolar, Maria L.

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Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations von Blauen, Aglaë, Stutterd, Chloe A., Stouffs, Katrien, Dumitriu, Dana, Deggouj, Naima, Lockhart, Paul J., Leventer, Richard J., Nassogne, Marie-Cécile, Jansen, Anna C.

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Cerebral hypomyelination associated with biallelic variants of FIG4 von Lenk, Guy M., Berry, Ian R., Stutterd, Chloe A., Blyth, Moira, Green, Lydia, Vadlamani, Gayatri, Warren, Daniel, Craven, Ian, Fanjul‐Fernandez, Miriam, Rodriguez‐Casero, Victoria, Lockhart, Paul J., Vanderver, Adeline, Simons, Cas, Gibb, Susan, Sadedin, Simon, White, Susan M., Christodoulou, John, Skibina, Olga, Ruddle, Jonathan, Tan, Tiong Y., Leventer, Richard J., Livingston, John H., Meisler, Miriam H.

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Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature von Stutterd, Chloe A., Francis, David, McGillivray, George, Lockhart, Paul J., Leventer, Richard J.

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Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum von Crow, Yanick J, Marshall, Heather, Rice, Gillian I, Seabra, Luis, Jenkinson, Emma M, Baranano, Kristin, Battini, Roberta, Berger, Andrea, Blair, Edward, Blauwblomme, Thomas, Bolduc, Francois, Boddaert, Natalie, Buckard, Johannes, Burnett, Heather, Calvert, Sophie, Caumes, Roseline, Ng, Andy Cheuk‐Him, Chiang, Diana, Clifford, David B, Cordelli, Duccio M, Burca, Anna, Demic, Natasha, Desguerre, Isabelle, De Waele, Liesbeth, Di Fonzo, Alessio, Dunham, S. Richard, Dyack, Sarah, Elmslie, Frances, Ferrand, Mickaël, Fisher, Gemma, Karimiani, Ehsan Ghayoor, Ghoumid, Jamal, Gibbon, Frances, Goel, Himanshu, Hilmarsen, Hilde T, Hughes, Imelda, Jacob, Anu, Jones, Elizabeth A, Kumar, Ram, Leventer, Richard J, MacDonald, Shelley, Maroofian, Reza, Mehta, Sarju G, Metz, Imke, Monfrini, Edoardo, Neumann, Daniela, Noetzel, Michael, O'Driscoll, Mary, Õunap, Katrin, Panzer, Axel, Parikh, Sumit, Prabhakar, Prab, Ramond, Francis, Sandford, Richard, Saneto, Russell, Soh, Calvin, Stutterd, Chloe A, Subramanian, Gopinath M, Talbot, Kevin, Thomas, Rhys H, Toro, Camilo, Touraine, Renaud, Wakeling, Emma, Wassmer, Evangeline, Whitney, Andrea, Livingston, John H, O'Keefe, Raymond T, Badrock, Andrew P

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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome von Ghosh, Shereen G, Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W, Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A, Karageorgou, Vasiliki, Begtrup, Amber, Crunk, Amy, Juusola, Jane, Willaert, Rebecca, Flore, Leigh A, Kennelly, Kelly, Spencer, Christopher, Brown, Martha, Trapane, Pamela, Hurst, Anna C E, Lane Rutledge, S, Goodloe, Dana H, McDonald, Marie T, Shashi, Vandana, Schoch, Kelly, Tomoum, Hoda, Zaitoun, Raghda, Hadipour, Zahra, Galehdari, Hamid, Pagnamenta, Alistair T, Mojarrad, Majid, Sedaghat, Alireza, Dias, Patrícia, Quintas, Sofia, Eslahi, Atiyeh, Shariati, Gholamreza, Bauer, Peter, Simons, Cas, Houlden, Henry, Issa, Mahmoud Y, Zaki, Maha S, Maroofian, Reza, Gleeson, Joseph G

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The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype von Yigit, Gökhan, Saida, Ken, DeMarzo, Danielle, Miyake, Noriko, Fujita, Atsushi, Yang Tan, Tiong, White, Susan M., Wadley, Alexandrea, Toliat, Mohammad R., Motameny, Susanne, Franitza, Marek, Stutterd, Chloe A., Chong, Pin F., Kira, Ryutaro, Sengoku, Toru, Ogata, Kazuhiro, Guillen Sacoto, Maria J., Fresen, Christine, Beck, Bodo B., Nürnberg, Peter, Dieterich, Christoph, Wollnik, Bernd, Matsumoto, Naomichi, Altmüller, Janine

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Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy von Helman, Guy, Zerem, Ayelet, Almad, Akshata, Hacker, Julia L., Woidill, Sarah, Sase, Sunetra, LeFevre, Alexandra N., Ekstein, Josef, Johansson, Martin M., Stutterd, Chloe A., Taft, Ryan J., Simons, Cas, Grinspan, Judith B., Pizzino, Amy, Schmidt, Johanna L., Harding, Brian, Hirsch, Yoel, Viaene, Angela N., Fattal-Valevski, Aviva, Vanderver, Adeline

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Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations von Stutterd, Chloe A., Kidd, Alexa, Florkowski, Chris, Janus, Edward, Fanjul, Miriam, Raizis, Anthony, Wu, Teddy Y., Archer, John, Leventer, Richard J., Amor, David J., Lukic, Vesna, Bahlo, Melanie, Gow, Paul, Lockhart, Paul J., Knaap, Marjo S., Delatycki, Martin B.

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LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations von Stellingwerff, Menno D., Figuccia, Sonia, Bellacchio, Emanuele, Alvarez, Karin, Castiglioni, Claudia, Topaloglu, Pinar, Stutterd, Chloe A., Erasmus, Corrie E., Sanchez‐Valle, Amarilis, Lebon, Sebastien, Hughes, Sarah, Schmitt-Mechelke, Thomas, Vasco, Gessica, Chow, Gabriel, Rahikkala, Elisa, Dallabona, Cristina, Okuma, Cecilia, Aiello, Chiara, Goffrini, Paola, Abbink, Truus E.M., Bertini, Enrico S., Van der Knaap, Marjo S.

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Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability von Pérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Carels, Marieke, Agrawal, Pankaj, Armstrong Scott, Daryl, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark, Clement, Emma, Coman, David, Costin, Carrie, Devriendt, Koen, Dong, Dexin, Dries, Annika, Duelund Hjortshøj, Tina, Dyment, David, Eng, Christine, Genetti, Casie, Grano, Siera, Henneman, Peter, Heron, Delphine, Hoffmann, Katrin, Du, Haowei, Isidor, Bertrand, Järvelä, Irma E., Jones, Julie, Keren, Boris, Kohlhase, Jürgen, Lalani, Seema, Le Caignec, Cedric, Lewis, Andi, Lovgren, Alysia, Lupski, James R., Lyons, Mike, Lysy, Philippe, Manning, Melanie, Marcelis, Carlo, McLean, Scott Douglas, Mercie, Sandra, Mertens, Mareike, Molin, Arnaud, Nugent, Kimberly Margaret, Öhman, Susanna, O'Leary, Melanie, Okashah Littlejohn, Rebecca, Petit, Florence, Pfundt, Rolph, Pottocki, Lorraine, Raas-Rotschild, Annick, Ranguin, Kara, Revencu, Nicole, Rosenfeld, Jill, Rhodes, Lindsay, Sals, Karen, Schrauwen, Isabelle, Schuurs-Hoeijmakers, Janneke H.M., Seaby, Eleanor G., Sheffer, Ruth, Snijders Blok, Lot, Sørensen, Kristina P., Srivastava, Siddharth, Stark, Zornitza, Stoeva, Radka, Stutterd, Chloe, Tan, Natalie B., Mathiesen Torring, Pernille, Vanakker, Olivier, van der Laan, Liselot, Ververi, Athina, Vincent, Marie, Wand, Dorothea, Wessels, Marja, White, Sue, Wojcik, Monica H., Wu, Nan, Zhao, Sen, Dermaut, Bart, Sadikovic, Bekim, Yuan, Bo, Vergult, Sarah, Callewaert, Bert

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Speech, Language and Oromotor Skills in Patients with Polymicrogyria von Braden MSpPath, Ruth O., Boyce, Jessica O., Stutterd, Chloe A., Pope, Kate, Goel, Himanshu, Leventer, Richard J., Scheffer, Ingrid E., Morgan, Angela T.

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A relatively common homozygousTRAPPC4splicing variant is associated with an early-infantile neurodegenerative syndrome von Ghosh, Shereen G., Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W., Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A., Karageorgou, Vasiliki, Begtrup, Amber, Crunk, Amy, Juusola, Jane, Willaert, Rebecca, Flore, Leigh A., Kennelly, Kelly, Spencer, Christopher, Brown, Martha, Trapane, Pamela, Hurst, Anna C. E., Rutledge, S. Lane, Goodloe, Dana H., McDonald, Marie T., Shashi, Vandana, Schoch, Kelly, Tomoum, Hoda, Zaitoun, Raghda, Hadipour, Zahra, Galehdari, Hamid, Pagnamenta, Alistair T., Mojarrad, Majid, Sedaghat, Alireza, Dias, Patricia, Quintas, Sofia, Eslahi, Atiyeh, Shariati, Gholamreza, Bauer, Peter, Simons, Cas, Houlden, Henry, Issa, Mahmoud Y., Zaki, Maha S., Maroofian, Reza, Gleeson, Joseph G.

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