Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related

by Mackay, Deborah, Bens, Susanne, Perez de Nanclares, Guiomar, Siebert, Reiner, Temple, I. Karen
Published 2014

Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans

by Gilling, Mette, Dullinger, Jörn S., Gesk, Stefan, Metzke-Heidemann, Simone, Siebert, Reiner, Meyer, Thomas, Brondum-Nielsen, Karen, Tommerup, Niels, Ropers, Hans-Hilger, Tümer, Zeynep, Kalscheuer, Vera M., Thomas, N. Simon
Published 2006

Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma

by Okosun, Jessica, Wolfson, Rachel, Wang, Jun, Araf, Shamzah, Wilkins, Lucy, Castellano, Brian, Escudero-Ibarz, Leire, Al Seraihi, Ahad Fahad, Richter, Julia, Bernhart, Stephan, Efeyan, Alejo, Iqbal, Sameena, Matthews, Janet, Clear, Andrew, Afonso Guerra-Assunção, José, Bödör, Csaba, Quentmeier, Hilmar, Mansbridge, Christopher, Johnson, Peter, Davies, Andrew, Strefford, Jon, Packham, Graham, Barrans, Sharon, Jack, Andrew, Du, Ming-Qing, Calaminici, Maria, Lister, T. Andrew, Auer, Rebecca, Montoto, Silvia, Gribben, John, Siebert, Reiner, Chelala, Claude, Zoncu, Roberto, Sabatini, David, Fitzgibbon, Jude
Published 2016

Rare variants in NR2F2 cause congenital heart defects in humans

by Al Turki, Saeed, Manickaraj, Ashok K., Mercer, Catherine L., Gerety, Sebastian S., Hitz, Marc-Phillip, Lindsay, Sarah, D'Alessandro, Lisa C.A, Swaminathan, G. Jawahar, Bentham, Jamie, Arndt, Anne-Karin, Low, Jacoba, Breckpot, Jeroen, Gewillig, Marc, Thienpont, Bernard, Abdul-Khaliq, Hashim, Harnack, Christine, Hoff, Kirstin, Kramer, Hans-Heiner, Schubert, Stephan, Siebert, Reiner, Toka, Okan, Cosgrove, Catherine, Watkins, Hugh, Lucassen, Anneke M., O'Kelly, Ita M., Salmon, Anthony P., Bu'Lock, Frances A., Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Brook, J. David, Mulder, Barbara, Klaassen, Sabine, Bhattacharya, Shoumo, Devriendt, Koen, FitzPatrick, David F., Wilson, David I., Mital, Seema, Hurles, Matthew E.
Published 2014