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Weksberg Lab

Selected Publications


Inbar-Feigenberg M, Choufani S, Butcher DT, Roifman M, Weksberg R. Basic concepts of epigenetics. Fertil Steril 2013

Grafodatskaya D, Chung BH, Butcher DT, Turinsky AL, Goodman SJ, Choufani S, Chen YA, Lou Y, Zhao C, Rajendram R, Abidi FE, Skinner C, Sravropoulos DJ, Bondy CA, Hamilton J, Wodak S, Scherer SW, Schwartz CE, Weksberg R.  Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C. BMC Med Genomics 2013, 6:1

Grafodatskaya D, Cytrynbaum C, Weksberg R. The health risks of ART. EMBO Rep 2013, 14:129-135

Chen YA, Lemire M, Choufani S, Butcher DT, Grafodatskaya D, Zanke BW, Gallinger S, Hudson TJ, Weksberg R. Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray. Epigenetics. 2013 Jan 11;8(2). [List of cross-reactive probes][List of polymorphic CpGs][BLAT results 50-48bp][BLAT results 47bp]

Inbar-Feigenberg M, Choufani S, Cytrynbaum C, Chen YA, Steele L, Shuman C, Ray PN, Weksberg R. (2013) Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues. Am J Med Genet A 161:13-20


Chen YA, Choufani S, Grafodatskaya D, Butcher DT, Ferreira JC, Weksberg R. (2012) Cross-reactive DNA microarray probes lead to false discovery of autosomal sex-associated DNA methylation. Am J Hum Genet 91:762-764

Smith AC, Suzuki M, Thompson R, Choufani S, Higgins MJ, Chiu IW, Squire JA, Greally JM, Weksberg R. (2012)  Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression. Genomics 99(1):25-35


Ferreira JC, Choufani S, Grafodatskaya D, Butcher DT, Chitayat D, Shuman C, Kingdom J, Keating S, Weksberg R. (2011) WNT2 promoter methylation in human placenta is associated with low birthweight percentile in the neonate. Epigenetics 6(4): 440-449

Rajendram R, Ferreira JC, Grafodatskaya D, Choufani S, Chiang T, Pu S, Butcher DT, Wodak S, Weksberg R. (2011) Assessment of methylation level prediction accuracy in Methyl-DNA immunoprecipitation (MeDIP-CGI) and sodium bisulfite (BIS-Me) based microarray platforms. Epigenetics 6(4): 410-415

Choufani S, Shapiro JS, Susiarjo M, Butcher DT, Grafodatskaya D, Lou Y, D, Scherer Ferreira JC, Pinto SW, Shaffer LG, Coullin P, Caniggia I, Beyene J, Slim R, Bartolomei MS,  Weksberg R. (2011)  A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes. Genome Research 21(3): 465-76

Chen YA, Choufani S, Ferreira JC, Grafodatskaya D, Butcher DT, Weksberg R (2011) Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray. Genomics 97(4):214-22 [List of non-specific probes][List of polymorphic CpGs]

Grigoriu A, Ferreira JC, Choufani S, Baczyk D, Kingdom J, Weksberg R (2011) Cell specific patterns of methylation in the human placenta. Epigenetics 6(3):368-79


Choufani S, Shuman C, Weksberg R (2010) Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 154C:343-354 

Grafodatskaya D, Chung B, Szatmari P, Weksberg R (2010) Autism spectrum disorders and epigenetics. J Am Acad Child Adolesc Psychiatry 49:794-809 

Grafodatskaya D, Choufani S, Ferreira JC, Butcher DT, Lou Y, Zhao C, Scherer SW, Weksberg R (2010) EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines. Genomics 95:73-83 

Weksberg R (2010) Imprinted genes and human disease. Am J Med Genet C Semin Med Genet 154C:317-320 

Weksberg R, Shuman C, Beckwith JB (2010) Beckwith-Wiedemann syndrome. Eur J Hum Genet 18:8-14


Horike S, Ferreira JC, Meguro-Horike M, Choufani S, Smith AC, Shuman C, Meschino W, Chitayat D, Zackai E, Scherer SW, Weksberg R (2009) Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome. Am J Med Genet A 149A:2415-2423


Guo L, Choufani S, Ferreira J, Smith A, Chitayat D, Shuman C, Uxa R, Keating S, Kingdom J, Weksberg R (2008) Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae. Dev Biol 320:79-91

Greer KJ, Kirkpatrick SJ, Weksberg R, Pauli RM (2008) Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care. Am J Med Genet A 146A:1707-1712

Konen O, Armstrong D, Clarke H, Padfield N, Weksberg R, Blaser S (2008) C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome. Pediatr Radiol 38:766-771


Smith AC, Choufani S, Ferreira JC, Weksberg R (2007) Growth regulation, imprinted genes, and chromosome 11p15.5. Pediatric Res 61:43R-47R

Smith AC, Shuman C, Chitayat D, Steele L, Ray PN, Bourgeois J, Weksberg R (2007) Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15. Am J Med Genet A 143A:3010-3015

Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Teebi A, Ray PN, Weksberg R (2007) Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification. Am J Med Genet A 143A:2924-2930

Weksberg R, Shuman C, Wilkins-Haug L, Mann M, Croughan M, Stewart D, Rakowsky C, Leader A, Hall J, Friedman JM, Simpson JL, Holmes L, Infante-Rivard C (2007) Workshop report: evaluation of genetic and epigenetic risks associated with assisted reproductive technologies and infertility. Fertil Steril 88:27-31

Weksberg R, Stachon AC, Squire JA, Moldovan L, Bayani J, Meyn S, Chow E, Bassett AS (2007) Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome. Hum Genet 120:837-845

A detailed list of Weksberg’s publications is available at PubMed.