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
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
- Creator: Jenkinson, Emma M. , Rodero, Mathieu P. , Bhaskar, Sanjeev S. , O'Sullivan, James , Baerlocher, Gabriela M. , Haubitz, Monika , Aubert, Geraldine , Barañano, Kristin W. , Barnicoat, Angela J. , Battini, Roberta , Berger, Andrea , Blair, Edward M. , Kasher, Paul R. , Brunstrom-Hernandez, Janice E. , Buckard, Johannes A. , Cassiman, David M. , Caumes, Rosaline , Cordelli, Duccio M. , De Waele, Liesbeth M. , Fay, Alexander J. , Ferreira, Patrick , Fletcher, Nicholas A. , Fryer, Alan E. , Uggenti, Carolina , Goel, Himanshu , Hemingway, Cheryl A. , Henneke, Marco , Hughes, Imelda , Jefferson, Rosalind J. , Kumar, Ram , Lagae, Lieven , Landrieu, Pierre G. , Lourenço, Charles M. , Malpas, Timothy J. , Oojageer, Anthony , Mehta, Sarju G. , Metz, Imke , Naidu, Sakkubai , Õunap, Katrin , Panzer, Axel , Prabhakar, Prab , Quaghebeur, Geraldine , Schiffmann, Raphael , Sherr, Elliott H. , Sinnathuray, Kanaga R. , Goosey, Laurence C. , Soh, Calvin , Stewart, Helen S. , Stone, John , Van Esch, Hilde , Van Mol, Christine E. G. , Vanderver, Adeline , Wakeling, Emma L. , Whitney, Andrea , Pavitt, Graham D. , Griffiths-Jones, Sam , Rose, Yoann , Rice, Gillian I. , Revy, Patrick , van der Knaap, Margo S. , Livingston, John H. , O'Keefe, Raymond T. , Crow, Yanick J. , Kershaw, Christopher J. , Urquhart, Jill E. , Williams, Simon G.
- Resource Type: journal article
- Date: 2016
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
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
- Creator: Froyen, Guy , Corbett, Mark , Chelly, Jamel , Sanlaville, Damien , van Bokhoven, Hans , Ropers, Hans-Hilger , Laumonnier, Frederic , Ranieri, Enzo , Schwartz, Charles E. , Abidi, Fatima , Tarpey, Patrick S. , Futreal, P. Andrew , Vandewalle, Joke , Whibley, Annabel , Raymond, F. Lucy , Stratton, Michael R. , Fryns, Jean-Pierre , Scott, Rodney , Peippo, Maarit , Sipponen, Marjatta , Partington, Michael , Mowat, David , Field, Michael , Jarvela, Irma , Hackett, Anna , Marynen, Peter , Turner, Gillian , Gécz, Jozef , Lawrence, Owen , Meldrum, Cliff , Bauters, Marijke , Govaerts, Karen , Vandeleur, Lucianne , Van Esch, Hilde
- Resource Type: journal article
- Date: 2008