Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency
De Franco, E., Shaw-Smith, C., Flanagan, S. E., Edghill, E. L., Wolf, J., Otte, V., Ebinger, F., Varthakavi, P., Vasanthi, T., Edvardsson, S., Hattersley, A. T., Ellard, S.
Published in Diabetic medicine (01.05.2013)
Published in Diabetic medicine (01.05.2013)
Get full text
Journal Article
Prenatal detection of unbalanced chromosomal rearrangements by array CGH
Rickman, L, Fiegler, H, Shaw-Smith, C, Nash, R, Cirigliano, V, Voglino, G, Ng, B L, Scott, C, Whittaker, J, Adinolfi, M, Carter, N P, Bobrow, M
Published in Journal of medical genetics (01.04.2006)
Published in Journal of medical genetics (01.04.2006)
Get full text
Journal Article
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
Shaw-Smith, C, Redon, R, Rickman, L, Rio, M, Willatt, L, Fiegler, H, Firth, H, Sanlaville, D, Winter, R, Colleaux, L, Bobrow, M, Carter, N P
Published in Journal of medical genetics (01.04.2004)
Published in Journal of medical genetics (01.04.2004)
Get full text
Journal Article
Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
Mulder, P. A., Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., González, N. G., Huber, I., Iascone, M., Kaiser, A.‐S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammì, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos‐Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw‐Smith, C., Smithson, S., Suri, M., Tatton‐Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, M., Dunn, W. W., Piening, S., Hennekam, R. C.
Published in Journal of intellectual disability research (01.12.2020)
Published in Journal of intellectual disability research (01.12.2020)
Get full text
Journal Article
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
Coffey, Alison J, Brooksbank, Robert A, Brandau, Oliver, Oohashi, Toshitaka, Howell, Gareth R, Bye, Jacqueline M, Cahn, Anthony P, Durham, Jillian, Heath, Paul, Wray, Paul, Pavitt, Rebecca, Wilkinson, Jane, Leversha, Margaret, Huckle, Elizabeth, Shaw-Smith, Charles J, Dunham, Andrew, Rhodes, Susan, Schuster, Volker, Porta, Giovanni, Yin, Luo, Serafini, Paola, Sylla, Bakary, Zollo, Massimo, Franco, Brunella, Bolino, Alessandra, Seri, Marco, Lanyi, Arpad, Davis, Jack R, Webster, David, Harris, Ann, Lenoir, Gilbert, de St Basile, Genevieve, Jones, Alison, Behloradsky, Bernd H, Achatz, Helene, Murken, Jan, Fassler, Reinhard, Sumegi, Janos, Romeo, Giovanni, Vaudin, Mark, Ross, Mark T, Meindl, Alfons, Bentley, David R
Published in Nature genetics (01.10.1998)
Published in Nature genetics (01.10.1998)
Get full text
Journal Article
Improved Method for Detecting Differentially Expressed Genes Using cDNA Indexing
Shaw-Smith, C.J, Coffey, A.J, Huckle, E, Durham, J, Campbell, E.A, Freeman, T.C, Walters, J.R.F, Bentley, D.R
Published in BioTechniques (01.05.2000)
Published in BioTechniques (01.05.2000)
Get full text
Journal Article
Characterisation of a novel murine intestinal serine protease, DISP
Shaw-Smith, C.J., Coffey, A.J., Leversha, M., Freeman, T.C., Bentley, D.R., Walters, J.R.F.
Published in Biochimica et biophysica acta (31.01.2000)
Published in Biochimica et biophysica acta (31.01.2000)
Get full text
Journal Article
Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects
Sagoo, Gurdeep S, Butterworth, Adam S, Sanderson, Simon, Shaw-Smith, Charles, Higgins, Julian P T, Burton, Hilary
Published in Genetics in medicine (01.03.2009)
Published in Genetics in medicine (01.03.2009)
Get full text
Journal Article
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia
Nik-Zainal, Serena, Strick, Reiner, Storer, Mekayla, Huang, Ni, Rad, Roland, Willatt, Lionel, Fitzgerald, Tomas, Martin, Vicki, Sandford, Richard, Carter, Nigel P, Janecke, Andreas R, Renner, Stefan P, Oppelt, Patricia G, Oppelt, Peter, Schulze, Christine, Brucker, Sara, Hurles, Matthew, Beckmann, Matthias W, Strissel, Pamela L, Shaw-Smith, Charles
Published in Journal of medical genetics (01.03.2011)
Published in Journal of medical genetics (01.03.2011)
Get full text
Journal Article
3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome
Willatt, Lionel, Cox, James, Barber, John, Cabanas, Elisabet Dachs, Collins, Amanda, Donnai, Dian, FitzPatrick, David R., Maher, Eddy, Martin, Howard, Parnau, Josep, Pindar, Lesley, Ramsay, Jacqueline, Shaw-Smith, Charles, Sistermans, Erik A., Tettenborn, Michael, Trump, Dorothy, de Vries, Bert B.A., Walker, Kate, Raymond, F. Lucy
Published in American journal of human genetics (01.07.2005)
Published in American journal of human genetics (01.07.2005)
Get full text
Journal Article
Phenotypic and genotypic description of 44 patients with variants in DLG4 encoding the post-synaptic density protein PSD-95
Seuma, ARP, Boerrigter, M, Mandrile, G, Pelle, A, Giorgio, E, Lindstrand, A, Johansson, M, Kvarnung, M, Everman, D, Bahrambeigi, V, MacKenzie, A, Morton, J, Ruivenkamp, C, Challman, T, Hurst, A, Hoyer, J, Elmslie, F, Dye, T, Isidor, B, Haldeman-Englert, C, Gomez-Andres, D, Schluter, A, de Man, S, Shieh, J, Prada, C, Moutton, S, Denomme-Pichon, A, Motti, S, Bruel, A, Mau-Them, FT, Reiter, S, van Ravenswaaij-Arts, C, Shaw-Smith, C, Parikh, S, Aldinger, K, Lovgren, A, Rauch, A, Ross, M, Gomez-Puertas, P, de Vries, B, Pujol, A, Tumer, Z
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2020)
Get full text
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2020)
Conference Proceeding
Many patients have an identifiable genetic cause of Hirschsprung’s disease
Sansbury, Francis H, Ellard, Sian, Shaw-Smith, Charles, Turnpenny, Peter
Published in BMJ (Online) (03.12.2012)
Published in BMJ (Online) (03.12.2012)
Get full text
Journal Article
Array-based comparative genomic hybridization for investigating chromosomal abnormalities in patients with learning disability: systematic review meta-analysis of diagnostic and false-positive yields
Subramonia-Iyer, Subu, Sanderson, Simon, Sagoo, Gurdeep, Higgins, Julian, Burton, Hilary, Zimmern, Ron, Kroese, Mark, Brice, Pippa, Shaw-Smith, Charles
Published in Genetics in medicine (01.02.2007)
Published in Genetics in medicine (01.02.2007)
Get full text
Journal Article