Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours

por Sabbaghian, Nelly, Bahubeshi, Amin, Shuen, Andrew Y, Kanetsky, Peter A, Tischkowitz, Marc D, Nathanson, Katherine L, Foulkes, William D
Publicado 2013

Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

por Guarnieri, Vito, Seaberg, Raewyn M., Kelly, Catherine, Jean Davidson, M., Raphael, Simon, Shuen, Andrew Y., Baorda, Filomena, Palumbo, Orazio, Scillitani, Alfredo, Hendy, Geoffrey N., Cole, David E. C.
Publicado 2017

Erratum to: Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

por Guarnieri, Vito, Seaberg, Raewyn M., Kelly, Catherine, Jean Davidson, M., Raphael, Simon, Shuen, Andrew Y., Baorda, Filomena, Palumbo, Orazio, Scillitani, Alfredo, Hendy, Geoffrey N., Cole, David E.C.
Publicado 2017

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

por Aref-Eshghi, Erfan, Bend, Eric G., Hood, Rebecca L., Schenkel, Laila C., Carere, Deanna Alexis, Chakrabarti, Rana, Nagamani, Sandesh C. S., Cheung, Sau Wai, Campeau, Philippe M., Prasad, Chitra, Siu, Victoria Mok, Brady, Lauren, Tarnopolsky, Mark A., Callen, David J., Innes, A. Micheil, White, Susan M., Meschino, Wendy S., Shuen, Andrew Y., Paré, Guillaume, Bulman, Dennis E., Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Hennekam, Raoul C., Boycott, Kym M., Schwartz, Charles E., Sadikovic, Bekim
Publicado 2018

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

por Levitin, Maria O, Rawlins, Lettie E, Sanchez-Andrade, Gabriela, Arshad, Osama A, Collins, Stephan C, Sawiak, Stephen J, Iffland, Phillip H, Andersson, Malin H L, Bupp, Caleb, Cambridge, Emma L, Coomber, Eve L, Ellis, Ian, Herkert, Johanna C, Ironfield, Holly, Jory, Logan, Kretz, Perrine F, Kant, Sarina G, Neaverson, Alexandra, Nibbeling, Esther, Rowley, Christine, Relton, Emily, Sanderson, Mark, Scott, Ethan M, Stewart, Helen, Shuen, Andrew Y, Schreiber, John, Tuck, Liz, Tonks, James, Terkelsen, Thorkild, van Ravenswaaij-Arts, Conny, Vasudevan, Pradeep, Wenger, Olivia, Wright, Michael, Day, Andrew, Hunter, Adam, Patel, Minal, Lelliott, Christopher J, Crino, Peter B, Yalcin, Binnaz, Crosby, Andrew H, Baple, Emma L, Logan, Darren W, Hurles, Matthew E, Gerety, Sebastian S
Publicado 2023