Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations von Rech, Megan E., McCarthy, John M., Chen, Chun‐An, Edmond, Jane C., Shah, Veeral S., Bosch, Daniëlle G. M., Berry, Gerard T., Williams, Linford, Madan‐Khetarpal, Suneeta, Niyazov, Dmitriy, Shaw‐Smith, Charles, Kovar, Erin M., Lupo, Philip J., Schaaf, Christian P.

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Clinical geneticists' views of VACTERL/VATER association von Solomon, Benjamin D., Bear, Kelly A., Kimonis, Virginia, de Klein, Annelies, Scott, Daryl A., Shaw-Smith, Charles, Tibboel, Dick, Reutter, Heiko, Giampietro, Philip F.

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Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus von Sansbury, Francis H, Kirel, Birgül, Caswell, Richard, Allen, Hana Lango, Lango Allen, Hana, Flanagan, Sarah E, Hattersley, Andrew T, Ellard, Sian, Shaw-Smith, Charles J

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Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: Roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of... von Shaw-Smith, Charles

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Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis von Weedon, Michael N, Cebola, Inês, Patch, Ann-Marie, Flanagan, Sarah E, De Franco, Elisa, Caswell, Richard, Rodríguez-Seguí, Santiago A, Shaw-Smith, Charles, Cho, Candy H-H, Allen, Hana Lango, Houghton, Jayne A L, Roth, Christian L, Chen, Rongrong, Hussain, Khalid, Marsh, Phil, Vallier, Ludovic, Murray, Anna, Ellard, Sian, Ferrer, Jorge, Hattersley, Andrew T

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GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency von DE FRANCO, Elisa, SHAW-SMITH, Charles, FLANAGAN, Sarah E, SHEPHERD, Maggie H, NDM CONSORTIUM, International, HATTERSLEY, Andrew T, ELLARD, Sian

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GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes von SHAW-SMITH, Charles, DE FRANCO, Elisa, MIEDZYBRODZKA, Zosia, DEJA, Grazyna, WLODARSKA, Iwona, MLYNARSKI, Wojciech, FERRER, Jorge, HATTERSLEY, Andrew T, ELLARD, Sian, ALLEN, Hana Lango, BATLLE, Marta, FLANAGAN, Sarah E, BOROWIEC, Maciej, TAPLIN, Craig E, VAN ALFEN-VAN DER VELDEN, Janiëlle, CRUZ-ROJO, Jaime, PEREZ DE NANCLARES, Guiomar

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Review of genetic factors in intestinal malrotation von Martin, Vicki, Shaw-Smith, Charles

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Further delineation of Malan syndrome von Priolo, Manuela, Schanze, Denny, Tatton‐Brown, Katrin, Mulder, Paul A., Tenorio, Jair, Kooblall, Kreepa, Acero, Inés Hernández, Alkuraya, Fowzan S., Arias, Pedro, Bernardini, Laura, Bijlsma, Emilia K., Cole, Trevor, Coubes, Christine, Dapia, Irene, Davies, Sally, Di Donato, Nataliya, Elcioglu, Nursel H., Fahrner, Jill A., Foster, Alison, González, Noelia García, Huber, Ilka, Iascone, Maria, Kaiser, Ann‐Sophie, Kamath, Arveen, Liebelt, Jan, Lynch, Sally Ann, Maas, Saskia M., Mammì, Corrado, Mathijssen, Inge B., McKee, Shane, Menke, Leonie A., Mirzaa, Ghayda M., Montgomery, Tara, Neubauer, Dorothee, Neumann, Thomas E., Pintomalli, Letizia, Pisanti, Maria Antonietta, Plomp, Astrid S., Price, Sue, Salter, Claire, Santos‐Simarro, Fernando, Sarda, Pierre, Segovia, Mabel, Shaw‐Smith, Charles, Smithson, Sarah, Suri, Mohnish, Valdez, Rita Maria, Haeringen, Arie, Hagen, Johanna M., Zollino, Marcela, Lapunzina, Pablo, Thakker, Rajesh V., Zenker, Martin, Hennekam, Raoul C.

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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design von Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K., Dabir, Tabib, Morrison, Patrick J., Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw‐Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E., Jones, Gabriela, Houlden, Henry, Ceravolo, Giorgia, Jarvis, Joanna, Williams, Jonathan, Shanks, Morag E., Clouston, Penny, Rankin, Julia, Blumkin, Lubov, Lerman‐Sagie, Tally, Ponger, Penina, Raskin, Salmo, Granath, Katariina, Uusimaa, Johanna, Conti, Hector, McCann, Emma, Joss, Shelagh, Blakes, Alexander J.M., Metcalfe, Kay, Kingston, Helen, Bertoli, Marta, Kneen, Rachel, Lynch, Sally Ann, Martínez Albaladejo, Inmaculada, Moore, Austen Peter, Jones, Wendy D., Becker, Esther B.E., Németh, Andrea H.

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3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome von 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

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Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia von Shaw-Smith, Charles, Flanagan, Sarah E, Patch, Ann-Marie, Grulich-Henn, Juergen, Habeb, Abdelhadi M, Hussain, Khalid, Pomahacova, Renata, Matyka, Krystyna, Abdullah, Mohamed, Hattersley, Andrew T, Ellard, Sian

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Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus von Sansbury, Francis H, Kirel, Birgül, Caswell, Richard, Lango Allen, Hana, Flanagan, Sarah E, Hattersley, Andrew T, Ellard, Sian, Shaw-Smith, Charles J

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Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report von Clissold, Rhian L, Clarke, Helen C, Spasic-Boskovic, Olivera, Brugger, Kim, Abbs, Stephen, Bingham, Coralie, Shaw-Smith, Charles

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Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome von Wakeling, Emma, McEntagart, Meriel, Bruccoleri, Michael, Shaw-Smith, Charles, Stals, Karen L., Wakeling, Matthew, Barnicoat, Angela, Beesley, Clare, Hanson-Kahn, Andrea K., Kukolich, Mary, Stevenson, David A., Campeau, Philippe M., Ellard, Sian, Elsea, Sarah H., Yang, Xiang-Jiao, Caswell, Richard C.

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Evidence for 28 genetic disorders discovered by combining healthcare and research data von Kaplanis, Joanna, Samocha, Kaitlin E., Wiel, Laurens, Zhang, Zhancheng, Arvai, Kevin J., Eberhardt, Ruth Y., Gallone, Giuseppe, Lelieveld, Stefan H., Martin, Hilary C., McRae, Jeremy F., Short, Patrick J., Torene, Rebecca I., de Boer, Elke, Danecek, Petr, Gardner, Eugene J., Huang, Ni, Lord, Jenny, Martincorena, Iñigo, Pfundt, Rolph, Reijnders, Margot R. F., Yeung, Alison, Yntema, Helger G., Vissers, Lisenka E. L. M., Juusola, Jane, Wright, Caroline F., Brunner, Han G., Firth, Helen V., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Gilissen, Christian, Retterer, Kyle

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Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6 von Savova, Radka, De Franco, Elisa, Shaw-Smith, Charles, Georgieva, Ralitza, Konstantinova, Maia, Archinkova, Margarita, Panteleeva, Emilia, Kaneva, Anna, Marinov, Rumen, Ellard, Sian, Hattersley, Andrew

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Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology von Shaw-Smith, C

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The contribution of X-linked coding variation to severe developmental disorders von Martin, Hilary C., Gardner, Eugene J., Samocha, Kaitlin E., Kaplanis, Joanna, Akawi, Nadia, Sifrim, Alejandro, Eberhardt, Ruth Y., Tavares, Ana Lisa Taylor, Neville, Matthew D. C., Niemi, Mari E. K., Gallone, Giuseppe, McRae, Jeremy, Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.

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MEN2 screening dilemmas in a family with a novel RET mutation in the MEN2 susceptibility region of the gene, a family history of Hirschsprung disease, and no family history of MEN2... von Clowes, Virginia E., Shaw-Smith, Charles, Simpson, Helen, Ball, Steve G., Acerini, Carlo L.

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