Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients

por Broadbent, Hannah, Farran, Emily K, Chin, Esther, Metcalfe, Kay, Tassabehji, May, Turnpenny, Peter, Sansbury, Francis, Meaburn, Emma, Karmiloff-Smith, Annette
Publicado 2014

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus

por Sansbury, Francis H, Kirel, Birgül, Caswell, Richard, Lango Allen, Hana, Flanagan, Sarah E, Hattersley, Andrew T, Ellard, Sian, Shaw-Smith, Charles J
Publicado 2015

Social Cognition in Williams Syndrome: Genotype/Phenotype Insights from Partial Deletion Patients

por Karmiloff-Smith, Annette, Broadbent, Hannah, Farran, Emily K., Longhi, Elena, D’Souza, Dean, Metcalfe, Kay, Tassabehji, May, Wu, Rachel, Senju, Atsushi, Happé, Francesca, Turnpenny, Peter, Sansbury, Francis
Publicado 2012

ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy

por Hyder, Zerin, Van Paesschen, Wim, Sabir, Ataf, Sansbury, Francis H., Burke, Katherine B., Khan, Naz, Chandler, Kate E., Cooper, Nicola S., Wright, Ronnie, McHale, Edward, Van Esch, Hilde, Banka, Siddharth
Publicado 2021

Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders

por Lee, Sunwoo, Menzies, Lara, Hay, Eleanor, Ochoa, Eguzkine, Docquier, France, Rodger, Fay, Deshpande, Charu, Foulds, Nicola C, Jacquemont, Sébastien, Jizi, Khadije, Kiep, Henriette, Kraus, Alison, Löhner, Katharina, Morrison, Patrick J, Popp, Bernt, Richardson, Ruth, van Haeringen, Arie, Martin, Ezequiel, Toribio, Ana, Li, Fudong, Jones, Wendy D, Sansbury, Francis H, Maher, Eamonn R
Publicado 2023

AHDC1 missense mutations in Xia-Gibbs syndrome

por Khayat, Michael M., Hu, Jianhong, Jiang, Yunyun, Li, He, Chander, Varuna, Dawood, Moez, Hansen, Adam W., Li, Shoudong, Friedman, Jennifer, Cross, Laura, Bijlsma, Emilia K., Ruivenkamp, Claudia A.L., Sansbury, Francis H., Innis, Jeffrey W., Omark O’Shea, Jessica, Meng, Qingchang, Rosenfeld, Jill A., McWalter, Kirsty, Wangler, Michael F., Lupski, James R., Posey, Jennifer E., Murdock, David, Gibbs, Richard A.
Publicado 2021

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

por Balasubramanian, Meena, Dingemans, Alexander J. M., Albaba, Shadi, Richardson, Ruth, Yates, Thabo M., Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis H., Burke, Katherine B., Fry, Andrew E., Ragge, Nicola, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S., Vincent, Marie, Isidor, Bertrand, Küry, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy K., Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M., Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth, Kleefstra, Tjitske
Publicado 2021