DYSCERNE: a European Network of Centres of Expertise for Dysmorphology

por Chrzanowska, Krystyna, Clayton-Smith, Jill, Day, Ruth, Griffiths, Pamela
Publicado 2010

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

por Ramsden, Simon C, Clayton-Smith, Jill, Birch, Rachael, Buiting, Karin
Publicado 2010

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

por Beygo, Jasmin, Buiting, Karin, Ramsden, Simon C., Ellis, Rachael, Clayton-Smith, Jill, Kanber, Deniz
Publicado 2019

Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes

por Watkins, Alice, Bissell, Stacey, Moss, Jo, Oliver, Chris, Clayton-Smith, Jill, Haye, Lorraine, Heald, Mary, Welham, Alice
Publicado 2019

Prevalence of fetal alcohol spectrum disorder in Greater Manchester, UK: An active case ascertainment study

por McCarthy, Robyn, Mukherjee, Raja A. S., Fleming, Kate M., Green, Jonathan, Clayton‐Smith, Jill, Price, Alan D., Allely, Clare S., Cook, Penny A.
Publicado 2021

Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of...

por Fitzgibbon, Gregory J, Clayton-Smith, Jill, Banka, Siddharth, Hamilton, Susan J, Needham, Margaret M, Dore, Jonathan K, Miller, Jake T, Pawson, Gareth D, Gaunt, Lorraine
Publicado 2008

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

por King, Daniel A., Fitzgerald, Tomas W., Miller, Ray, Canham, Natalie, Clayton-Smith, Jill, Johnson, Diana, Mansour, Sahar, Stewart, Fiona, Vasudevan, Pradeep, Hurles, Matthew E.
Publicado 2014

The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis

por Musleh, Mohammud, Bull, Adam, Linton, Emma, Liu, Jingshu, Waller, Sarah, Hardcastle, Claire, Clayton-Smith, Jill, Sharma, Vinod, Black, Graeme C., Biswas, Susmito, Ashworth, Jane L., Sergouniotis, Panagiotis I.
Publicado 2023

DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes

por Griffiths, Pam, Strong, Kate, Gardner, Sara, Day, Ruth, Harrison, Caroline, Bronwyn, Kerr, Metcalfe, Kay, Brunner, Han, Donnai, Dian, Dallapiccola, Bruno, Devriendt, Koenraad, Krajewska-Walasek, Malgorzata, Philip, Nicole, Clayton-Smith, Jill
Publicado 2010

Brittle cornea syndrome: recognition, molecular diagnosis and management

por Burkitt Wright, Emma MM, Porter, Louise F, Spencer, Helen L, Clayton-Smith, Jill, Au, Leon, Munier, Francis L, Smithson, Sarah, Suri, Mohnish, Rohrbach, Marianne, Manson, Forbes DC, Black, Graeme CM
Publicado 2013

Timing Of Primary Surgery for cleft palate (TOPS): protocol for a randomised trial of palate surgery at 6 months versus 12 months of age

por Shaw, William, Semb, Gunvor, Lohmander, Anette, Persson, Christina, Willadsen, Elisabeth, Clayton-Smith, Jill, Trindade, Inge Kiemle, Munro, Kevin J, Gamble, Carrol, Harman, Nicola, Conroy, Elizabeth J, Weichart, Dieter, Williamson, Paula
Publicado 2019

Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom

por Costa, Alessia, Franková, Věra, Robert, Glenn, Macek, Milan, Patch, Christine, Alexander, Elizabeth, Arellanesova, Anna, Clayton-Smith, Jill, Hunter, Amy, Havlovicová, Markéta, Pourová, Radka, Pritchard, Marie, Roberts, Lauren, Zoubková, Veronika, Metcalfe, Alison
Publicado 2022

Correction to: Co‑designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom

por Costa, Alessia, Franková, Věra, Robert, Glenn, Macek, Milan, Patch, Christine, Alexander, Elizabeth, Arellanesova, Anna, Clayton‑Smith, Jill, Hunter, Amy, Havlovicová, Markéta, Pourová, Radka, Pritchard, Marie, Roberts, Lauren, Zoubková, Veronika, Metcalfe, Alison
Publicado 2022

Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations

por Madhu, Rajesh, Beaman, Glenda M., Chandler, Kate E., O'Sullivan, James, Urquhart, Jill E., Khan, Naz, Martindale, Elizabeth, Briggs, Tracy A., Clayton-Smith, Jill, Higgs, Jenny, Batra, Gauri, Kerr, Bronwyn, Woolf, Adrian S., Newman, William G.
Publicado 2020

Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child

por Bromley, Rebecca, Adab, Naghme, Bluett-Duncan, Matt, Clayton-Smith, Jill, Christensen, Jakob, Edwards, Katherine, Greenhalgh, Janette, Hill, Ruaraidh A, Jackson, Cerian F, Khanom, Sonia, McGinty, Ronan N, Tudur Smith, Catrin, Pulman, Jennifer, Marson, Anthony G
Publicado 2023

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

por Taylor, Rachel L., Handley, Mark T., Waller, Sarah, Campbell, Christopher, Urquhart, Jill, Meynert, Alison M., Ellingford, Jamie M., Donnelly, Deirdre, Wilcox, Gisela, Lloyd, I. Chris, Mundy, Helen, FitzPatrick, David R., Deshpande, Charu, Clayton-Smith, Jill, Black, Graeme C.
Publicado 2017

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome

por Powell, Laura, Olinger, Eric, Wedderburn, Sarah, Ramakumaran, Vijayalakshmi Salem, Kini, Usha, Clayton-Smith, Jill, Ramsden, Simon C, Rice, Sarah J, Barroso-Gil, Miguel, Wilson, Ian, Cowley, Lorraine, Johnson, Sally, Harris, Elizabeth, Montgomery, Tara, Bertoli, Marta, Boltshauser, Eugen, Sayer, John A
Publicado 2021

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1

por Suri, Mohnish, Evers, Jochem M. G., Laskowski, Roman A., O'Brien, Sinead, Baker, Kate, Clayton‐Smith, Jill, Dabir, Tabib, Josifova, Dragana, Joss, Shelagh, Kerr, Bronwyn, Kraus, Alison, McEntagart, Meriel, Morton, Jenny, Smith, Audrey, Splitt, Miranda, Thornton, Janet M., Wright, Caroline F.
Publicado 2017

Clinical and genetic variability in children with partial albinism

por Campbell, Patrick, Ellingford, Jamie M., Parry, Neil R. A., Fletcher, Tracy, Ramsden, Simon C., Gale, Theodora, Hall, Georgina, Smith, Katherine, Kasperaviciute, Dalia, Thomas, Ellen, Lloyd, I. Chris, Douzgou, Sofia, Clayton-Smith, Jill, Biswas, Susmito, Ashworth, Jane L., Black, Graeme C. M., Sergouniotis, Panagiotis I.
Publicado 2019

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

por Snape, Katie, Hanks, Sandra, Ruark, Elise, Barros-Núňez, Patricio, Elliott, Anna, Murray, Anne, Lane, Andrew H, Shannon, Nora, Callier, Patrick, Chitayat, David, Clayton-Smith, Jill, FitzPatrick, David, Gisselsson, David, Jacquemont, Sebastien, Asakura-Hay, Keiko, Micale, Mark, Tolmie, John, Turnpenny, Peter, Wright, Michael, Douglas, Jenny, Rahman, Nazneen
Publicado 2011