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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Beckwith–Wiedemann syndrome demonstrates a role for epigenetic control of normal development
Weksberg, Rosanna, Smith, Adam C., Squire, Jeremy, Sadowski, Paul
Published in Human molecular genetics (02.04.2003)
Published in Human molecular genetics (02.04.2003)
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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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Unbalanced Placental Expression of Imprinted Genes in Human Intrauterine Growth Restriction
McMinn, J., Wei, M., Schupf, N., Cusmai, J., Johnson, E.B., Smith, A.C., Weksberg, R., Thaker, H.M., Tycko, B.
Published in Placenta (Eastbourne) (01.06.2006)
Published in Placenta (Eastbourne) (01.06.2006)
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Parents’ Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling
Hayeems, R. Z., Babul-Hirji, R., Hoang, N., Weksberg, R., Shuman, C.
Published in Journal of genetic counseling (01.04.2016)
Published in Journal of genetic counseling (01.04.2016)
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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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A distinct microvascular endothelial gene expression profile in severe IUGR placentas
Dunk, C.E, Roggensack, A.M, Cox, B, Perkins, J.E, Åsenius, F, Keating, S, Weksberg, R, Kingdom, J.C.P, Adamson, S.L
Published in Placenta (Eastbourne) (01.04.2012)
Published in Placenta (Eastbourne) (01.04.2012)
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Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder
Carter, MT, Nikkel, SM, Fernandez, BA, Marshall, CR, Noor, A, Lionel, AC, Prasad, A, Pinto, D, Joseph-George, AM, Noakes, C, Fairbrother-Davies, C, Roberts, W, Vincent, J, Weksberg, R, Scherer, SW
Published in Clinical genetics (01.11.2011)
Published in Clinical genetics (01.11.2011)
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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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The adult phenotype in Costello syndrome
White, Susan M., Graham Jr, J.M., Kerr, B., Gripp, K., Weksberg, R., Cytrynbaum, C., Reeder, J.L., Stewart, F.J., Edwards, M., Wilson, M., Bankier, A.
Published in American journal of medical genetics. Part A (15.07.2005)
Published in American journal of medical genetics. Part A (15.07.2005)
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An inversion inv(4)(p12–p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster
Vincent, J B, Horike, SI, Choufani, S, Paterson, A D, Roberts, W, Szatmari, P, Weksberg, R, Fernandez, B, Scherer, S W
Published in Journal of medical genetics (01.05.2006)
Published in Journal of medical genetics (01.05.2006)
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Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature
BOERKOEL, C. F, O'NEILL, S, FRÜND, S, GEARY, D. F, IESHIMA, A, ILLIES, F, JOSEPH, M. W, KAITILA, I, LAMA, G, LEHEUP, B, LUDMAN, M. D, MCLEOD, D. R, ANDRE, J. L, MEDEIRA, A, MILFORD, D. V, ORMÄLÄ, T, RENER-PRIMEC, Z, SANTAVA, A, SANTOS, H. G, SCHMIDT, B, SMITH, G. C, SPRANGER, J, ZUPANCIC, N, BENKE, P. J, WEKSBERG, R, BOGDANOVIC, R, BULLA, M, BURGUET, A, COCKFIELD, S, CORDEIRO, I, EHRICH, J. H. H
Published in European journal of pediatrics (01.01.2000)
Published in European journal of pediatrics (01.01.2000)
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New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome
Smith, A.C., Rubin, T., Shuman, C., Estabrooks, L., Aylsworth, A.S., McDonald, M.T., Steele, L., Ray, P.N., Weksberg, R.
Published in Cytogenetic and genome research (01.03.2006)
Published in Cytogenetic and genome research (01.03.2006)
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Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease
Ruttledge, M H, Andermann, A A, Phelan, C M, Claudio, J O, Han, F Y, Chretien, N, Rangaratnam, S, MacCollin, M, Short, P, Parry, D, Michels, V, Riccardi, V M, Weksberg, R, Kitamura, K, Bradburn, J M, Hall, B D, Propping, P, Rouleau, G A
Published in American journal of human genetics (01.08.1996)
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Published in American journal of human genetics (01.08.1996)
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Vitamin D Supplementation in Pregnancy and Lactation and Infant Growth
Roth, Daniel E, Morris, Shaun K, Zlotkin, Stanley, Gernand, Alison D, Ahmed, Tahmeed, Shanta, Shaila S, Papp, Eszter, Korsiak, Jill, Shi, Joy, Islam, M. Munirul, Jahan, Ishrat, Keya, Farhana K, Willan, Andrew R, Weksberg, Rosanna, Mohsin, Minhazul, Rahman, Qazi S, Shah, Prakesh S, Murphy, Kellie E, Stimec, Jennifer, Pell, Lisa G, Qamar, Huma, Al Mahmud, Abdullah
Published in The New England journal of medicine (09.08.2018)
Published in The New England journal of medicine (09.08.2018)
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Postmaturity in a genetic subtype of schizophrenia
Chow, E. W. C., Husted, J., Weksberg, R., Bassett, A. S.
Published in Acta psychiatrica Scandinavica (01.10.2003)
Published in Acta psychiatrica Scandinavica (01.10.2003)
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