NSD1 mutations generate a genome-wide DNA methylation signature
Choufani, S, Cytrynbaum, C, Chung, B H Y, Turinsky, A L, Grafodatskaya, D, Chen, Y A, Cohen, A S A, Dupuis, L, Butcher, D T, Siu, M T, Luk, H M, Lo, I F M, Lam, S T S, Caluseriu, O, Stavropoulos, D J, Reardon, W, Mendoza-Londono, R, Brudno, M, Gibson, W T, Chitayat, D, Weksberg, R
Published in Nature communications (22.12.2015)
Published in Nature communications (22.12.2015)
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Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants
Siu, M T, Butcher, D T, Turinsky, A L, Cytrynbaum, C, Stavropoulos, D J, Walker, S, Caluseriu, O, Carter, M, Lou, Y, Nicolson, R, Georgiades, S, Szatmari, P, Anagnostou, E, Scherer, S W, Choufani, S, Brudno, M, Weksberg, R
Published in Clinical epigenetics (16.07.2019)
Published in Clinical epigenetics (16.07.2019)
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Clinical presentation, genetic etiology and outcome associated with fetal cardiomyopathy: comparison of two eras
Trakmulkichkarn, T., Ghadiry‐Tavi, R., Fruitman, D., Niederhoffer, K. Y., Caluseriu, O., Lauzon, J. L., Wewala, G., Hornberger, L. K., Urschel, S., Conway, J., McBrien, A.
Published in Ultrasound in obstetrics & gynecology (01.03.2022)
Published in Ultrasound in obstetrics & gynecology (01.03.2022)
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Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype
Bramswig, Nuria C., Caluseriu, O., Lüdecke, H.-J., Bolduc, F. V., Noel, N. C. L., Wieland, T., Surowy, H. M., Christen, H.-J., Engels, H., Strom, T. M., Wieczorek, D.
Published in Human genetics (01.03.2017)
Published in Human genetics (01.03.2017)
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Journal Article
Schizophrenia in an adult with 6p25 deletion syndrome
Caluseriu, O., Mirza, G., Ragoussis, J., Chow, E.W.C., MacCrimmon, D., Bassett, A.S.
Published in American journal of medical genetics. Part A (01.06.2006)
Published in American journal of medical genetics. Part A (01.06.2006)
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Journal Article
A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability
Caluseriu, O, Di Gregorio, C, Lucci-Cordisco, E, Santarosa, M, Trojan, J, Brieger, A, Benatti, P, Pedroni, M, Colibazzi, T, Bellacosa, A, Neri, G, Ponz de Leon, M, Viel, A, Genuardi, M
Published in Journal of medical genetics (01.03.2004)
Published in Journal of medical genetics (01.03.2004)
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Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer
Caluseriu, Oana, Cordisco, Emanuela Lucci, Viel, Alessandra, Majore, Silvia, Nascimben, Riccardo, Pucciarelli, Salvatore, Genuardi, Maurizio
Published in Human mutation (01.06.2001)
Published in Human mutation (01.06.2001)
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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
Alcantara, Diana, Timms, Andrew E, Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G, Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I, Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A, Wenger, Aaron M, Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham, Jr, John M, Hevner, Robert, Dobyns, William B, O'Driscoll, Mark, Mirzaa, Ghayda M
Published in Brain (London, England : 1878) (01.10.2017)
Published in Brain (London, England : 1878) (01.10.2017)
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Web Resource
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, McWalter, Kirsty, Blackburn, Patrick R., Sanders, Stephan J., Uguen, Kévin, Harris, Jacqueline, Cohen, Julie S., Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy H., Kini, Usha, Joss, Shelagh, von der Lippe, Charlotte, Gordon, Christopher T., Sutton, Vernon R., Johnston, Jennifer J., Poduri, Annapurna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica H., Bongers, Ernie M.H.F., Gilissen, Christian, Zarate, Yuri A., Kvarnung, Malin, Lally, Kevin P., Kulch, Peggy A., Daniels, Brina, Hernandez-Garcia, Andres, Stong, Nicholas, Retterer, Kyle, Sullivan, Jennifer, Geisheker, Madeleine R., Stray-Pedersen, Asbjorg, Tarpinian, Jennifer M., Sapp, Julie C., Zyskind, Jacob, Holla, Øystein L., Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind L., Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, Nordgren, Ann, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini N., Zackai, Elaine H., Begtrup, Amber, Song, Xiaofei, Toutain, Annick, Wentzensen, Ingrid M., Odent, Sylvie, Bonneau, Dominique, Latypova, Xénia, Deb, Wallid, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Pichurin, Pavel N., Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin L., Xiao, Rui, Amiel, Jeanne, Isidor, Bertrand, Biesecker, Leslie G., Lowenstein, Dan, Posey, Jennifer E., Denommé-Pichon, Anne-Sophie, Férec, Claude, Yang, Xiang-Jiao, Rosenfeld, Jill A., Gilbert-Dussardier, Brigitte, Audebert-Bellanger, Séverine, Stessman, Holly A.F., Nellaker, Christoffer, Yang, Yaping, Lupski, James R., Eichler, Evan E., Bolduc, Francois, Bézieau, Stéphane, Küry, Sébastien, Campeau, Philippe M.
Published in American journal of human genetics (07.03.2019)
Published in American journal of human genetics (07.03.2019)
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Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome
Weksberg, Rosanna, Shuman, Cheryl, Caluseriu, Oana, Smith, Adam C., Fei, Yan-Ling, Nishikawa, Joy, Stockley, Tracy L., Best, Lyle, Chitayat, David, Olney, Ann, Ives, Elizabeth, Schneider, Adele, Bestor, Timothy H., Li, Madeline, Sadowski, Paul, Squire, Jeremy
Published in Human molecular genetics (15.05.2002)
Published in Human molecular genetics (15.05.2002)
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Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1
Weksberg, R, Nishikawa, J, Caluseriu, O, Fei, Y L, Shuman, C, Wei, C, Steele, L, Cameron, J, Smith, A, Ambus, I, Li, M, Ray, P N, Sadowski, P, Squire, J
Published in Human molecular genetics (15.12.2001)
Published in Human molecular genetics (15.12.2001)
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Renal abnormalities in Beckwith-Wiedemann syndrome are associated with 11p15.5 uniparental disomy
GOLDMAN, Michael, SMITH, Adam, ROSENBLUM, Norman D, SHUMAN, Cheryl, CALUSERIU, Oana, CHIHONG WEI, STEELE, Leslie, RAY, Peter, SADOWSKI, Paul, SQUIRE, Jeremy, WEKSBERG, Rosanna
Published in Journal of the American Society of Nephrology (01.08.2002)
Published in Journal of the American Society of Nephrology (01.08.2002)
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Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer
Lucci-Cordisco, E, Rovella, V, Carrara, S, Percesepe, A, Pedroni, M, Bellacosa, A, Caluseriu, O, Forasarig, M, Anti, M, Neri, G, Ponz de Leon, M, Viel, A, Genuardi, M
Published in Familial cancer (2001)
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Published in Familial cancer (2001)
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Genetic testing of cancer predisposition
Genuardi, Maurizio, Caluseriu, Oana, Emanuela Lucci Cordisco, Rovella, Valentina, Neri, Giovanni
Published in Minerva biotecnologica (01.03.2000)
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Published in Minerva biotecnologica (01.03.2000)
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