Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutation by Argan, Reem Al, Saskin, Avi, Yang, Ji Wei, D’Agostino, Maria Daniela, Rivera, Juan

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Prevalence of four Mendelian disorders associated with autism in 2392 affected families by Saskin, Avi, Fulginiti, Vanessa, Birch, Ashley H, Trakadis, Yannis

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Functional and phenotypic consequences of an unusual inversion in MSH2 by Pelletier, Dylan, Rath, Abhijit, Sabbaghian, Nelly, Pelmus, Manuela, Hudon, Catherine, Jacob, Karine, Witowski, Leora, Saskin, Avi, Heinen, Christopher D., Foulkes, William D.

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DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis by 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

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PTPRD copy number variants and Ewing's sarcoma: Strengthening the association and therapeutic implications by Saskin, Avi, Seath, Kimberly, Tihy, Frederique, Lemyre, Emmanuelle, Davis, Jeffrey, Halal, Fahed, Armstrong, Linlea

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Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency by Bidla, Gawa, Watkins, David, Chéry, Céline, Froese, D. Sean, Ells, Courtney, Kerachian, Matin, Saskin, Avi, Christensen, Karen E., Gilfix, Brian M., Guéant, Jean-Louis, Rosenblatt, David S.

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A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation? by Saskin, Avi, Kock, Leanne, Sabbaghian, Nelly, Apellaniz‐Ruiz, Maria, Bozkurt, Ceyhun, Bouron‐Dal Soglio, Dorothée, Foulkes, William D.

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

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Renal tubular dysgenesis and microcolon, a novel association. Report of three cases by Saskin, Avi, Alfares, Ahmed, Bernard, Chantal, Blumenkrantz, Miriam, Braverman, Nancy, Gupta, Indra, Brosnihan, K. Bridget, Antignac, Corinne, Gubler, Marie Claire, Morinière, Vincent, De Bie, Isabelle, Bitzan, Martin

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Abstract LB-89: Germ-line and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type by Witkowski, Leora, Carrot-Zhang, Jian, Albrecht, Steffen, Hamel, Nancy, Tomiak, Eva, Grynspan, David, Saloustros, Emmanouil, Gilpin, Catherine, Silva-Smith, Rachel, Plourde, François, Rivera, Barbara, Castellsagué, Ester, Wu, Mona, Fahiminiya, Somayyeh, Nadaf, Javad, Saskin, Avi, Arseneault, Madeleine, Karabakhtsian, Rouzan G., Reilly, Elizabeth A., Ueland, Frederick R., Margiolaki, Anna, Pavlakis, Kitty, Castellino, Sharon M., Lamovec, Janez, Roth, Lawrence M., Ulbright, Thomas M., Bender, Tracey, Longy, Michel, Berchuck, Andrew, Tischkowitz, Marc, Siebert, Reiner, Nagel, Inga, Georgoulias, Vassilis, Stewart, Colin J.r., McCluggage, Glenn, Arseneau, Jocelyne, Clarke, Blaise A., Riazalhosseini, Yasser, Hasselblatt, Martin, Majewski, Jacek, Foulkes, William D.

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