AB132. The role of oxytocin-neurophysin I in contributing to human personality traits and plasma immunogenic oxytocin levels

Por Chong, Anne, Lai, Poh San, Chew, Soo Hong, Gouin, Jean-Philippe, Ebstein, Richard P.
Publicado no Ann Transl Med (2017)

TBIO-25. CHOROID PLEXUS PAPILLOMAS IN FAMILIES WITH DICER1 MUTATION ASSOCIATED DISEASE

Por Rivera, Barbara, Chong, Anne-Sophie, Thomas, Christian, Fahiminiya, Sommayeh, Strother, Doug, Priest, John, Hasselblatt, Martin, Foulkes, William
Publicado no Neuro Oncol (2018)

Poorly differentiated thyroid carcinoma of childhood and adolescence: A distinct entity characterized by DICER1 mutations

Por Chernock, Rebecca D, Rivera, Barbara, Borrelli, Nicla, Hill, D. Ashley, Fahiminiya, Somayyeh, Shah, Tasha, Chong, Anne-Sophie, Aqil, Barina, Mehrad, Mitra, Giordano, Thomas J, Sheridan, Rachel, Rutter, Meilan M, Dehner, Louis P., Foulkes, William D., Nikiforov, Yuri E
Publicado no Mod Pathol (2020)

RARE-22. GERMLINE PATHOGENIC VARIANT c.1552G>A;p.E518K IN DGCR8 CONFERS SUSCEPTIBILITY FOR SCHWANNOMATOSIS AND THYROID TUMORS

Por Chong, Anne-Sophie, Nadaf, Javad, Grau, Elia, Apellaniz-Ruiz, Maria, Fahiminiya, Somayyeh, Saskin, Avi, Han, HyeRim, Turcotte, Robert, Muchantef, Karl, Thomas, Christian, Wagener, Rabea, Bassenden, Angelia, Mete, Ozgur, Pusztaszeri, Marc, Paulus, Werner, Berghuis, Albert, Siebert, Reiner, Albrecht, Steffen, Hasselblatt, Martin, Lazaro, Conxi, Teule, Alexander, Fabian, Marc, Brunet, Joan, Foulkes, William, Rivera, Barbara
Publicado no Neuro Oncol (2020)

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

Por Rivera, Barbara, Nadaf, Javad, Fahiminiya, Somayyeh, Apellaniz-Ruiz, Maria, Saskin, Avi, Chong, Anne-Sophie, Sharma, Sahil, Wagener, Rabea, Revil, Timothée, Condello, Vincenzo, Harra, Zineb, Hamel, Nancy, Sabbaghian, Nelly, Muchantef, Karl, Thomas, Christian, de Kock, Leanne, Hébert-Blouin, Marie-Noëlle, Bassenden, Angelia V., Rabenstein, Hannah, Mete, Ozgur, Paschke, Ralf, Pusztaszeri, Marc P., Paulus, Werner, Berghuis, Albert, Ragoussis, Jiannis, Nikiforov, Yuri E., Siebert, Reiner, Albrecht, Steffen, Turcotte, Robert, Hasselblatt, Martin, Fabian, Marc R., Foulkes, William D.
Publicado no J Clin Invest (2020)

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

Por Gallon, Richard, Mühlegger, Barbara, Wenzel, Sören‐Sebastian, Sheth, Harsh, Hayes, Christine, Aretz, Stefan, Dahan, Karin, Foulkes, William, Kratz, Christian P., Ripperger, Tim, Azizi, Amedeo A., Baris Feldman, Hagit, Chong, Anne‐Laure, Demirsoy, Ugur, Florkin, Benoît, Imschweiler, Thomas, Januszkiewicz‐Lewandowska, Danuta, Lobitz, Stephan, Nathrath, Michaela, Pander, Hans‐Jürgen, Perez‐Alonso, Vanesa, Perne, Claudia, Ragab, Iman, Rosenbaum, Thorsten, Rueda, Daniel, Seidel, Markus G., Suerink, Manon, Taeubner, Julia, Zimmermann, Stefanie‐Yvonne, Zschocke, Johannes, Borthwick, Gillian M., Burn, John, Jackson, Michael S., Santibanez‐Koref, Mauro, Wimmer, Katharina
Publicado no Hum Mutat (2019)