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

מאת Chong, Anne, Lai, Poh San, Chew, Soo Hong, Gouin, Jean-Philippe, Ebstein, Richard P.
הוצא לאור ב Ann Transl Med (2017)

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

מאת Rivera, Barbara, Chong, Anne-Sophie, Thomas, Christian, Fahiminiya, Sommayeh, Strother, Doug, Priest, John, Hasselblatt, Martin, Foulkes, William
הוצא לאור ב Neuro Oncol (2018)

Common clonal origin of chronic myelomonocytic leukemia and B-cell acute lymphoblastic leukemia in a patient with a germline CHEK2 variant

מאת Bazinet, Alexandre, Heath, John, Chong, Anne-Sophie, Simo-Cheyou, Estelle R., Worme, Samantha, Rivera Polo, Barbara, Foulkes, William D., Caplan, Stephen, Johnson, Nathalie A., Orthwein, Alexandre, Mercier, François E.
הוצא לאור ב Cold Spring Harb Mol Case Stud (2021)

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

מאת 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
הוצא לאור ב Mod Pathol (2020)

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

מאת 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
הוצא לאור ב Neuro Oncol (2020)

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

מאת 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.
הוצא לאור ב J Clin Invest (2020)

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

מאת 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
הוצא לאור ב Hum Mutat (2019)