Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutation
Argan, Reem Al, Saskin, Avi, Yang, Ji Wei, D’Agostino, Maria Daniela, Rivera, Juan
Published in ENDOCRINE JOURNAL (01.01.2018)
Published in ENDOCRINE JOURNAL (01.01.2018)
Get full text
Journal Article
Prevalence of four Mendelian disorders associated with autism in 2392 affected families
Saskin, Avi, Fulginiti, Vanessa, Birch, Ashley H, Trakadis, Yannis
Published in Journal of human genetics (01.06.2017)
Published in Journal of human genetics (01.06.2017)
Get full text
Journal Article
COL4A1/2 CNVs and cerebral small vessel disease: Narrowing in on the critical chromosomal region
Saskin, Avi, Sillon, Guillaume, Palfreeman, Natalie, Buhas, Daniela
Published in Neurology (29.05.2018)
Published in Neurology (29.05.2018)
Get more information
Journal Article
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type
Witkowski, Leora, Carrot-Zhang, Jian, Albrecht, Steffen, Fahiminiya, Somayyeh, Hamel, Nancy, Tomiak, Eva, Grynspan, David, Saloustros, Emmanouil, Nadaf, Javad, Rivera, Barbara, Gilpin, Catherine, Castellsagué, Ester, Silva-Smith, Rachel, Plourde, François, Wu, Mona, Saskin, Avi, Arseneault, Madeleine, Karabakhtsian, Rouzan G, Reilly, Elizabeth A, Ueland, Frederick R, Margiolaki, Anna, Pavlakis, Kitty, Castellino, Sharon M, Lamovec, Janez, Mackay, Helen J, Roth, Lawrence M, Ulbright, Thomas M, Bender, Tracey A, Georgoulias, Vassilis, Longy, Michel, Berchuck, Andrew, Tischkowitz, Marc, Nagel, Inga, Siebert, Reiner, Stewart, Colin J R, Arseneau, Jocelyne, McCluggage, W Glenn, Clarke, Blaise A, Riazalhosseini, Yasser, Hasselblatt, Martin, Majewski, Jacek, Foulkes, William D
Published in Nature genetics (01.05.2014)
Published in Nature genetics (01.05.2014)
Get full text
Journal Article
Isolated bilateral congenital lacrimal gland agenesis—a case series
Alghazawi, Nebras, Modabber, Milad, Darwich, Rami, Saskin, Avi, Russell, Laura, Saint-Martin, Christine, Khan, Ayesha
Published in Journal of AAPOS (01.04.2021)
Published in Journal of AAPOS (01.04.2021)
Get full text
Journal Article
Reclassification of a frequent African‐origin variant from PMS2 to the pseudogene PMS2CL
Chong, Anne‐Sophie, Chong, George, Foulkes, William D., Saskin, Avi
Published in Human mutation (01.04.2020)
Published in Human mutation (01.04.2020)
Get full text
Journal Article
Functional and phenotypic consequences of an unusual inversion in MSH2
Pelletier, Dylan, Rath, Abhijit, Sabbaghian, Nelly, Pelmus, Manuela, Hudon, Catherine, Jacob, Karine, Witowski, Leora, Saskin, Avi, Heinen, Christopher D., Foulkes, William D.
Published in Familial cancer (01.03.2024)
Published in Familial cancer (01.03.2024)
Get full text
Journal Article
DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis
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
Published in The Journal of clinical investigation (01.03.2020)
Published in The Journal of clinical investigation (01.03.2020)
Get full text
Journal Article
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency
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.
Published in Molecular genetics and metabolism (01.07.2020)
Published in Molecular genetics and metabolism (01.07.2020)
Get full text
Journal Article
RARE-22. GERMLINE PATHOGENIC VARIANT c.1552G>A;p.E518K IN DGCR8 CONFERS SUSCEPTIBILITY FOR SCHWANNOMATOSIS AND THYROID TUMORS
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
Published in Neuro-oncology (Charlottesville, Va.) (04.12.2020)
Published in Neuro-oncology (Charlottesville, Va.) (04.12.2020)
Get full text
Journal Article
A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation?
Saskin, Avi, Kock, Leanne, Sabbaghian, Nelly, Apellaniz‐Ruiz, Maria, Bozkurt, Ceyhun, Bouron‐Dal Soglio, Dorothée, Foulkes, William D.
Published in Pediatric blood & cancer (01.01.2018)
Published in Pediatric blood & cancer (01.01.2018)
Get full text
Journal Article
Renal tubular dysgenesis and microcolon, a novel association. Report of three cases
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
Published in European journal of medical genetics (01.04.2019)
Published in European journal of medical genetics (01.04.2019)
Get full text
Journal Article
Abstract LB-89: Germ-line and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type
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.
Published in Cancer research (Chicago, Ill.) (01.10.2014)
Published in Cancer research (Chicago, Ill.) (01.10.2014)
Get full text
Journal Article