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
Perceptions of causal attribution and attitudes to genetic testing among people with schizophrenia and their first-degree relatives
- Creator: Cullen, Melissa B. R. , Meiser, Bettina , Barlow-Stewart, Kristine , Green, Melissa , Appelbaum, Paul S. , Carr, Vaughan J. , Cairns, Murray J. , Lebowitz, M. S. , Kaur, Rajneesh
- Resource Type: journal article
- Date: 2022
Genetics-related service and information needs of childhood cancer survivors and parents: a mixed-methods study
- Creator: Vetsch, Janine , Wakefield, Claire E. , Downie, Peter , Egan, Karen , Ellis, Sarah , Emery, Jon , Fardell, Joanna , Foreman, Tali , Gabriel, Melissa , Girgis, Afaf , Graham, Kerrie , Johnston, Karen , Tucker, Katherine M. , Jones, Janelle , Lockwood, L , Maguire, A , McLoone, J , Mechinaud, F , Molloy, S , Moore, L , Osborn, M , Skeen, J , Tapp, H , McCarthy, Maria , Till, T , Truscott, J , Turpin, K , Wakefield, C , Williamson, J , Yallop, K , Signorelli, Christina , Walwyn, Thomas , Alvaro, Frank , Cohn, Richard J. , Cohn, Richard , Corbett, Rob
- Resource Type: journal article
- Date: 2020
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
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
8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome
- Creator: Talseth-Palmer, Bente A. , Scott, Rodney J. , Vasen, Hans F. A. , Wijnen, Juul T.
- Resource Type: journal article
- Date: 2012
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
MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer
- Creator: Reeves, Stuart G. , Meldrum, Cliff , Groombridge, Claire , Spigelman, Allan D. , Suchy, Janina , Kurzawski, Grzegorz , Lubinski, Jan , McElduff, Patrick , Scott, Rodney J.
- Resource Type: journal article
- Date: 2009
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
- Creator: Frints, Suzanna Gerarda Maria , Lenzner, Steffen , Turner, Gillian , Bauters, Mareike , Jensen, Lars Riff , Van Esch, Hilde , des Portes, Vincent , Moog, Ute , Macville, Merryn Victor Erik , van Roozendaal, Kees , Schrander-Stumpel, Constance Theresia Rimbertha Maria
- Resource Type: journal article
- Date: 2008
Variable phenotypic expression in HNPCC and the search for modifier genes
- Creator: Scott, Rodney J.
- Resource Type: journal article
- Date: 2008
Epistatic interaction between the monoamine oxidase A and serotonin transporter genes in anorexia nervosa
- Creator: Urwin, R. E. , Nunn, Kenneth P.
- Resource Type: journal article
- Date: 2005