'Staying strong on the inside and outside' to keep walking and moving around: Perspectives from Aboriginal people with Machado Joseph Disease and their families from the Groote Eyl... von Carr, Jennifer J, Lalara, Joyce, Lalara, Gayangwa, O'Hare, Gloria, Massey, Libby, Kenny, Nick, Pope, Kate E, Clough, Alan R, Lowell, Anne, Barker, Ruth N

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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS von Rafehi, Haloom, Szmulewicz, David J., Bennett, Mark F., Sobreira, Nara L.M., Pope, Kate, Smith, Katherine R., Gillies, Greta, Diakumis, Peter, Dolzhenko, Egor, Eberle, Michael A., Barcina, María García, Breen, David P., Chancellor, Andrew M., Cremer, Phillip D., Delatycki, Martin B., Fogel, Brent L., Hackett, Anna, Halmagyi, G. Michael, Kapetanovic, Solange, Lang, Anthony, Mossman, Stuart, Mu, Weiyi, Patrikios, Peter, Perlman, Susan L., Rosemergy, Ian, Storey, Elsdon, Watson, Shaun R.D., Wilson, Michael A., Zee, David S., Valle, David, Amor, David J., Bahlo, Melanie, Lockhart, Paul J.

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Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features von Lessel, Davor, Vaz, Bruno, Halder, Swagata, Lockhart, Paul J, Marinovic-Terzic, Ivana, Lopez-Mosqueda, Jaime, Philipp, Melanie, Sim, Joe C H, Smith, Katherine R, Oehler, Judith, Cabrera, Elisa, Freire, Raimundo, Pope, Kate, Nahid, Amsha, Norris, Fiona, Leventer, Richard J, Delatycki, Martin B, Barbi, Gotthold, von Ameln, Simon, Högel, Josef, Degoricija, Marina, Fertig, Regina, Burkhalter, Martin D, Hofmann, Kay, Thiele, Holger, Altmüller, Janine, Nürnberg, Gudrun, Nürnberg, Peter, Bahlo, Melanie, Martin, George M, Aalfs, Cora M, Oshima, Junko, Terzic, Janos, Amor, David J, Dikic, Ivan, Ramadan, Kristijan, Kubisch, Christian

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Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3 von Sim, Joe C., Scerri, Thomas, Fanjul-Fernández, Miriam, Riseley, Jessica R., Gillies, Greta, Pope, Kate, van Roozendaal, Hanna, Heng, Julian I., Mandelstam, Simone A., McGillivray, George, MacGregor, Duncan, Kannan, Lakshminarayanan, Maixner, Wirginia, Harvey, A. Simon, Amor, David J., Delatycki, Martin B., Crino, Peter B., Bahlo, Melanie, Lockhart, Paul J., Leventer, Richard J.

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Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia von Wan, Jijun, Steffen, Janos, Yourshaw, Michael, Mamsa, Hafsa, Andersen, Erik, Rudnik-Schöneborn, Sabine, Pope, Kate, Howell, Katherine B, McLean, Catriona A, Kornberg, Andrew J, Joseph, Jörg, Lockhart, Paul J, Zerres, Klaus, Ryan, Monique M, Nelson, Stanley F, Koehler, Carla M, Jen, Joanna C

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Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy von Lee, Wei Shern, Stephenson, Sarah E.M., Pope, Kate, Gillies, Greta, Maixner, Wirginia, Macdonald-Laurs, Emma, MacGregor, Duncan, D'Arcy, Colleen, Jackson, Graeme, Harvey, A. Simon, Leventer, Richard J., Lockhart, Paul J.

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The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care von Wilson, Brian T., Stark, Zornitza, Sutton, Ruth E., Danda, Sumita, Ekbote, Alka V., Elsayed, Solaf M., Gibson, Louise, Goodship, Judith A., Jackson, Andrew P., Te Keng, Wee ik, King, Mary D., McCann, Emma, Motojima, Toshino, Murray, Jennifer E., Omata, Taku, Pilz, Daniela, Pope, Kate, Sugita, Katsuo, White, Susan M., Wilson, Ian J.

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Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data von Rafehi, Haloom, Szmulewicz, David J., Pope, Kate, Wallis, Mathew, Christodoulou, John, White, Susan M., Delatycki, Martin B., Lockhart, Paul J., Bahlo, Melanie

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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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Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA von Lee, Wei Shern, Stephenson, Sarah E. M., Howell, Katherine B., Pope, Kate, Gillies, Greta, Wray, Alison, Maixner, Wirginia, Mandelstam, Simone A., Berkovic, Samuel F., Scheffer, Ingrid E., MacGregor, Duncan, Harvey, Anthony Simon, Lockhart, Paul J., Leventer, Richard J.

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Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome von Miller, Kerry A, Ah-Cann, Casey J, Welfare, Megan F, Tan, Tiong Y, Pope, Kate, Caruana, Georgina, Freckmann, Mary-Louise, Savarirayan, Ravi, Bertram, John F, Dobbie, Michael S, Bateman, John F, Farlie, Peter G

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Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5 von Scerri, Thomas, Riseley, Jessica R., Gillies, Greta, Pope, Kate, Burgess, Rosemary, Mandelstam, Simone A., Dibbens, Leanne, Chow, Chung W., Maixner, Wirginia, Harvey, Anthony Simon, Jackson, Graeme D., Amor, David J., Delatycki, Martin B., Crino, Peter B., Berkovic, Samuel F., Scheffer, Ingrid E., Bahlo, Melanie, Lockhart, Paul J., Leventer, Richard J.

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Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder von Bozaoglu, Kiymet, Gao, Yujing, Stanley, Edouard, Fanjul-Fernández, Miriam, Brown, Natasha J., Pope, Kate, Green, Cherie C., Vlahos, Katerina, Sourris, Koula, Bahlo, Melanie, Delatycki, Martin, Scheffer, Ingrid, Lockhart, Paul J.

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Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency von Sim, Joe C H, White, Susan M, Fitzpatrick, Elizabeth, Wilson, Gabrielle R, Gillies, Greta, Pope, Kate, Mountford, Hayley S, Torring, Pernille M, McKee, Shane, Vulto-van Silfhout, Anneke T, Jhangiani, Shalini N, Muzny, Donna M, Leventer, Richard J, Delatycki, Martin B, Amor, David J, Lockhart, Paul J

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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14 von Rafehi, Haloom, Read, Justin, Szmulewicz, David J, Davies, Kayli C, Snell, Penny, Fearnley, Liam G, Scott, Liam, Thomsen, Mirja, Gillies, Greta, Pope, Kate, Bennett, Mark F, Munro, Jacob E, Ngo, Kathie J, Chen, Luke, Wallis, Mathew J, Butler, Ernest G, Kumar, Kishore R, Wu, Kathy Hc, Tomlinson, Susan E, Tisch, Stephen, Malhotra, Abhishek, Lee-Archer, Matthew, Dolzhenko, Egor, Eberle, Michael A, Roberts, Leslie J, Fogel, Brent L, Brüggemann, Norbert, Lohmann, Katja, Delatycki, Martin B, Bahlo, Melanie, Lockhart, Paul J

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Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology von Wilson, Gabrielle R., Sim, Joe C.H., McLean, Catriona, Giannandrea, Maila, Galea, Charles A., Riseley, Jessica R., Stephenson, Sarah E.M., Fitzpatrick, Elizabeth, Haas, Stefan A., Pope, Kate, Hogan, Kirk J., Gregg, Ronald G., Bromhead, Catherine J., Wargowski, David S., Lawrence, Christopher H., James, Paul A., Churchyard, Andrew, Gao, Yujing, Phelan, Dean G., Gillies, Greta, Salce, Nicholas, Stanford, Lynn, Marsh, Ashley P.L., Mignogna, Maria L., Hayflick, Susan J., Leventer, Richard J., Delatycki, Martin B., Mellick, George D., Kalscheuer, Vera M., D’Adamo, Patrizia, Bahlo, Melanie, Amor, David J., Lockhart, Paul J.

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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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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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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 von Rafehi, Haloom, Read, Justin, Szmulewicz, David J., Davies, Kayli C., Snell, Penny, Fearnley, Liam G., Scott, Liam, Thomsen, Mirja, Gillies, Greta, Pope, Kate, Bennett, Mark F., Munro, Jacob E., Ngo, Kathie J., Chen, Luke, Wallis, Mathew J., Butler, Ernest G., Kumar, Kishore R., Wu, Kathy HC, Tomlinson, Susan E., Tisch, Stephen, Malhotra, Abhishek, Lee-Archer, Matthew, Dolzhenko, Egor, Eberle, Michael A., Roberts, Leslie J., Fogel, Brent L., Brüggemann, Norbert, Lohmann, Katja, Delatycki, Martin B., Bahlo, Melanie, Lockhart, Paul J.

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Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients von Sekiguchi, Futoshi, Tsurusaki, Yoshinori, Okamoto, Nobuhiko, Teik, Keng Wee, Mizuno, Seiji, Suzumura, Hiroshi, Isidor, Bertrand, Ong, Winnie Peitee, Haniffa, Muzhirah, White, Susan M, Matsuo, Mari, Saito, Kayoko, Phadke, Shubha, Kosho, Tomoki, Yap, Patrick, Goyal, Manisha, Clarke, Lorne A, Sachdev, Rani, McGillivray, George, Leventer, Richard J, Patel, Chirag, Yamagata, Takanori, Osaka, Hitoshi, Hisaeda, Yoshiya, Ohashi, Hirofumi, Shimizu, Kenji, Nagasaki, Keisuke, Hamada, Junpei, Dateki, Sumito, Sato, Takashi, Chinen, Yasutsugu, Awaya, Tomonari, Kato, Takeo, Iwanaga, Kougoro, Kawai, Masahiko, Matsuoka, Takashi, Shimoji, Yoshikazu, Tan, Tiong Yang, Kapoor, Seema, Gregersen, Nerine, Rossi, Massimiliano, Marie-Laure, Mathieu, McGregor, Lesley, Oishi, Kimihiko, Mehta, Lakshmi, Gillies, Greta, Lockhart, Paul J, Pope, Kate, Shukla, Anju, Girisha, Katta Mohan, Abdel-Salam, Ghada M H, Mowat, David, Coman, David, Kim, Ok Hwa, Cordier, Marie-Pierre, Gibson, Kate, Milunsky, Jeff, Liebelt, Jan, Cox, Helen, El Chehadeh, Salima, Toutain, Annick, Saida, Ken, Aoi, Hiromi, Minase, Gaku, Tsuchida, Naomi, Iwama, Kazuhiro, Uchiyama, Yuri, Suzuki, Toshifumi, Hamanaka, Kohei, Azuma, Yoshiteru, Fujita, Atsushi, Imagawa, Eri, Koshimizu, Eriko, Takata, Atsushi, Mitsuhashi, Satomi, Miyatake, Satoko, Mizuguchi, Takeshi, Miyake, Noriko, Matsumoto, Naomichi

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