Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in...

od Lango Allen, Hana, Caswell, Richard, Xie, Weijia, Xu, Xiao, Wragg, Christopher, Turnpenny, Peter D, Turner, Claire L S, Weedon, Michael N, Ellard, Sian
Izdano 2014

Mosaic Turner syndrome shows reduced penetrance in an adult population study

od Tuke, Marcus A., Ruth, Katherine S., Wood, Andrew R., Beaumont, Robin N., Tyrrell, Jessica, Jones, Samuel E., Yaghootkar, Hanieh, Turner, Claire L. S., Donohoe, Mollie E., Brooke, Antonia M., Collinson, Morag N., Freathy, Rachel M., Weedon, Michael N., Frayling, Timothy M., Murray, Anna
Izdano u Genet Med (2018)

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

od Docherty, Louise E., Rezwan, Faisal I., Poole, Rebecca L., Turner, Claire L. S., Kivuva, Emma, Maher, Eamonn R., Smithson, Sarah F., Hamilton-Shield, Julian P., Patalan, Michal, Gizewska, Maria, Peregud-Pogorzelski, Jaroslaw, Beygo, Jasmin, Buiting, Karin, Horsthemke, Bernhard, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas, Baple, Emma, Mansour, Sahar, Temple, I. Karen, Mackay, Deborah J. G.
Izdano u Nat Commun (2015)

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

od Begemann, Matthias, Rezwan, Faisal I, Beygo, Jasmin, Docherty, Louise E, Kolarova, Julia, Schroeder, Christopher, Buiting, Karin, Chokkalingam, Kamal, Degenhardt, Franziska, Wakeling, Emma L, Kleinle, Stephanie, González Fassrainer, Daniela, Oehl-Jaschkowitz, Barbara, Turner, Claire L S, Patalan, Michal, Gizewska, Maria, Binder, Gerhard, Bich Ngoc, Can Thi, Chi Dung, Vu, Mehta, Sarju G, Baynam, Gareth, Hamilton-Shield, Julian P, Aljareh, Sara, Lokulo-Sodipe, Oluwakemi, Horton, Rachel, Siebert, Reiner, Elbracht, Miriam, Temple, Isabel Karen, Eggermann, Thomas, Mackay, Deborah J G
Izdano u J Med Genet (2018)

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

od Skraban, Cara M., Wells, Constance F., Markose, Preetha, Cho, Megan T., Nesbitt, Addie I., Au, P.Y. Billie, Begtrup, Amber, Bernat, John A., Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P.M., Denenberg, Elizabeth H., Douglas, Ganka, Gibson, Kristin M., Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M., Owens, Martina M., Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L.S., Verbeek, Nienke E., Walsh, Laurence E., Warner, Taylor C., Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B., Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A.
Izdano u Am J Hum Genet (2017)