Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
- Creator: Francis, David I. , Stark, Zornitza , Krzesinski, Emma I. , Vasudevan, Anand , Oertel, Ralph , Petrovic, Vida , Boys, Amber , Wei, Vivian , Burgess, Trent , Dun, Karen , Oliver, Karen L. , Baxter, Anne , Scheffer, Ingrid E. , Hackett, Anna , Ayres, S , Lunke, S , Kalitsis, P , Wall, M , Tan, Tiong Yang , Murali, Krithika , Gallacher, Lyndon , Amor, David J. , Goel, Himanshu , Downie, Lilian , Stutterd, Chloe A.
- Resource Type: journal article
- Date: 2023
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance
- Creator: Leffler, Melanie , Christie, Louise , Hackett, Anna , Bennetts, Bruce , Goel, Himanshu , Amor, David J. , Peters, Greg B. , Field, Michael , Dudding-Byth, Tracy
- Resource Type: journal article
- Date: 2023
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability
- Creator: Field, Michael J. , Kumar, Raman , Gardner, Alison E. , Sullivan, Patricia , Ha, Thuong T. , Schwartz, Charles E. , Cowley, Mark J. , Dinger, Marcel E. , Palmer, Elizabeth E. , Christie, Louise , Shaw, Marie , Roscioli, Tony , Hackett, Anna , Gecz, Jozef , Corbett, MA , Kayumi, Sayaka , Shoubridge, Cheryl A. , Ewans, Lisa J. , Ivancevic, Atma M. , Dudding-Byth, Tracy , Carroll, Renée , Kroes, Thessa
- Resource Type: journal article
- Date: 2021
Bioinformatics-based identification of expanded repeats:a non-reference intronic pentamer expansion in RFC1 causes CANVAS
- Creator: Rafehi, Haloom , Szmulewicz, David J. , Barcina, Maria Garcia , Breen, David P. , Chancellor, Andrew M. , Cremer, Phillip D. , Delatycki, Martin B. , Fogel, Brent L. , Hackett, Anna , Halmagyi, G. Michael , Kapetanovic, Solange , Lang, Anthony , Bennett, Mark F. , 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 , Sobreira, Nara L. M. , Amor, David J. , Bahlo, Melanie , Lockhart, Paul J. , Pope, Kate , Smith, Katherine R. , Gillies, Greta , Diakumis, Peter , Dolzhenko, Egor , Eberle, Michael A.
- Resource Type: journal article
- Date: 2019
Management of stroke in the Australian indigenous population: from hospitals to communities
- Creator: Tiedeman, Clare , Suthers, Belinda , Julien, Benjamin , Hackett, Anna , Oakley, Patrick
- Resource Type: journal article
- Date: 2019
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
- Creator: Jansen, Sandra , Hoischen, Alexander , Van Bon, Bregje W. , Claahsen-Van Der Grinten, Hedi L. , Gecz, Jozef , Gilissen, Christian , Grillo, Lucia , Hackett, Anna , Kleefstra, Tjitske , Koolen, David , Kvarnung, Malin , Larsen, Martin J. , Coe, Bradley P. , Marcelis, Carlo , McKenzie, Fiona , Monin, Marie-Lorraine , Nava, Caroline , Schuurs-Hoeijmakers, Janneke H. , Pfundt, Rolph , Steehouwer, Marlos , Stevens, Servi J.C. , Stumpel, Connie T. , Vansenne, Fleur , Carvill, Gemma L. , Vinci, Mirella , Van De Vorst, Maartje , Vries, Petra D. , Witherspoon, Kali , Veltman, Joris A. , Brunner, Han G. , Mefford, Heather C. , Romano, Corrado , Vissers, Lisenka E.L.M. , Eichler, Evan E. , Van Esch, Hilde , De Vries, Bert B.A. , Bosch, Danielle G.M. , Andersen, Ulla A. , Baker, Carl , Bauters, Marijke , Bernier, Raphael A.
- Resource Type: journal article
- Date: 2018
Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation
- Creator: Hocking, Darren R. , Birch, Rachael C. , Trollor, Julian N. , Bui, Quang M. , Menant, Jasmine C. , Lord, Stephen R. , Georgiou-Karistianis, Nellie , Godler, David E. , Wen, Wei , Hackett, Anna , Rogers, Carolyn
- Resource Type: journal article
- Date: 2017
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability
- Creator: Dudding-Byth, Tracy , Baxter, Anne , Kleefstra, Tjitske , Ratwatte, Seshika , Riveros, Carlos , Brain, Steve , Lovell, Brian C. , Holliday, Elizabeth G. , Hackett, Anna , O'Donnell, Sheridan , White, Susan M. , Attia, John , Brunner, Han , de Vries, Bert , Koolen, David
- Resource Type: journal article
- Date: 2017
A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability
- Creator: Kumar, Raman , Ha, Thuong , Pham, Duyen , Shaw, Marie , Mangelsdorf, Marie , Friend, Kathryn L. , Hobson, Lynne , Turner, Gillian , Boyle, Jackie , Field, Michael , Hackett, Anna , Corbett, Mark , Gecz, Jozef
- Resource Type: journal article
- Date: 2016
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
- Creator: Corbett, Mark A. , Dudding-Byth, Tracy , Friend, Kathryn L. , Crawford, Jo , Jackson, Graeme , Vandeleur, Lucianne , Hackett, Anna , Tarpey, Patrick , Stratton, Michael R. , Turner, Gillian , Gécz, Jozef , Field, Michael , Crock, Patricia A. , Botta, Elena , Christie, Louise M. , Nardo, Tiziana , Caligiuri, Giuseppina , Hobson, Lynne , Boyle, Jackie , Mansour, Albert
- Resource Type: journal article
- Date: 2015
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
- Creator: Jensen, Lars R. , Chen, Wei , van Esch, Hilde , Chelly, Jamel , de Brouwer , Arjan P. M. , Hackett, Anna , van der Haar , Sigrun , Henn, Wolfram , Gecz, Jozef , Riess, Olaf , Bonin, Michael , Reinhardt, Richard , Moser, Bettina , Ropers, Hans-Hilger , Kuss, Andreas W. , Lipkowitz, Bettina , Schroeder, Christopher , Musante, Luciana , Tzschach, Andreas , Kalscheuer, Vera M. , Meloni, Ilaria , Raynaud, Martine
- Resource Type: journal article
- Date: 2011
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
- Creator: Hackett, Anna , Tarpey, Patrick S. , Tolmie, John , Yates, John R. W. , Turner, Gillian , WIlson, Meredith , Futreal, Andrew P. , Corbett, Mark , Shaw, Marie , Gecz, Jozef , Raymond, F. Lucy , Stratton, Micahel R. , Licata, Andrea , Schwartz, Charles E. , Abidi, Fatima E. , Cox, James , Whibley, Annabel , Boyle, Jackie , Rogers, Carolyn , Grigg, John , Partington, Michael , Stevenson, Roger E.
- Resource Type: journal article
- Date: 2010
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation
- Creator: Rujirabanjerd, Sinitdhorn , Nelson, John , Futreal, P. Andrew , Stratton, Michael R. , Gecz, Jozef , Tarpey, Patrick S. , Hackett, Anna , Edkins, Sarah , Raymond, F. Lucy , Schwartz, Charles E. , Turner, Gillian , Iwase, Shigeki , Shi, Yang
- Resource Type: journal article
- Date: 2010
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
- Creator: Tarpey, Patrick S. , Smith, Raffaella , Stephens, Phil , Blow, Matt , Greenman, Chris , Xue, Yali , Tyler-Smith, Chris , Thompson, Deborah , Gray, Kristian , Andrews, Jenny , Barthorpe, Syd , Buck, Gemma , Pleasance, Erin , Hackett, Anna , Whibley, Annabel , Edkins, Sarah , Hardy, Claire , O'Meara, Sarah , Latimer, Calli , Dicks, Ed , Menzies, Andrew
- Resource Type: journal article
- Date: 2009
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
- Creator: Froyen, Guy , Corbett, Mark , Chelly, Jamel , Sanlaville, Damien , van Bokhoven, Hans , Ropers, Hans-Hilger , Laumonnier, Frederic , Ranieri, Enzo , Schwartz, Charles E. , Abidi, Fatima , Tarpey, Patrick S. , Futreal, P. Andrew , Vandewalle, Joke , Whibley, Annabel , Raymond, F. Lucy , Stratton, Michael R. , Fryns, Jean-Pierre , Scott, Rodney , Peippo, Maarit , Sipponen, Marjatta , Partington, Michael , Mowat, David , Field, Michael , Jarvela, Irma , Hackett, Anna , Marynen, Peter , Turner, Gillian , Gécz, Jozef , Lawrence, Owen , Meldrum, Cliff , Bauters, Marijke , Govaerts, Karen , Vandeleur, Lucianne , Van Esch, Hilde
- Resource Type: journal article
- Date: 2008