Follow
Rosanna Weksberg
Rosanna Weksberg
The Hospital for Sick Children/University of Toronto
Verified email at sickkids.ca
Title
Cited by
Cited by
Year
Functional impact of global rare copy number variation in autism spectrum disorders
D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico, R Regan, J Conroy, ...
Nature 466 (7304), 368-372, 2010
23062010
Structural variation of chromosomes in autism spectrum disorder
CR Marshall, A Noor, JB Vincent, AC Lionel, L Feuk, J Skaug, M Shago, ...
The American Journal of Human Genetics 82 (2), 477-488, 2008
21222008
Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray
Y Chen, M Lemire, S Choufani, DT Butcher, D Grafodatskaya, BW Zanke, ...
Epigenetics 8 (2), 203-209, 2013
15242013
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
RK C Yuen, D Merico, M Bookman, J L Howe, B Thiruvahindrapuram, ...
Nature neuroscience 20 (4), 602-611, 2017
7492017
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
JB Rivière, GM Mirzaa, BJ O'Roak, M Beddaoui, D Alcantara, RL Conway, ...
Nature genetics 44 (8), 934-940, 2012
7062012
Beckwith–wiedemann syndrome
R Weksberg, C Shuman, JB Beckwith
European journal of human genetics 18 (1), 8-14, 2010
6662010
Whole-genome sequencing of quartet families with autism spectrum disorder
RKC Yuen, B Thiruvahindrapuram, D Merico, S Walker, K Tammimies, ...
Nature medicine 21 (2), 185-191, 2015
5772015
Clinical features of 78 adults with 22q11 deletion syndrome
AS Bassett, EWC Chow, J Husted, R Weksberg, O Caluseriu, GD Webb, ...
American journal of medical genetics Part A 138 (4), 307-313, 2005
5502005
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith–Wiedemann syndrome
NJ Smilinich, CD Day, GV Fitzpatrick, GM Caldwell, AC Lossie, ...
Proceedings of the National Academy of Sciences 96 (14), 8064-8069, 1999
5261999
Disruption of insulin–like growth factor 2 imprinting in Beckwith–Wiedemann syndrome
R Weksberg, D Ren Shen, Y Ling Fei, Q Li Song, J Squire
Nature genetics 5 (2), 143-150, 1993
5191993
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
AC Lionel, G Costain, N Monfared, S Walker, MS Reuter, SM Hosseini, ...
Genetics in Medicine 20 (4), 435-443, 2018
5112018
Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation
LG Biesecker, R Happle, JB Mulliken, R Weksberg, JM Graham Jr, ...
American journal of medical genetics 84 (5), 389-395, 1999
4861999
The schizophrenia phenotype in 22q11 deletion syndrome
AS Bassett, EWC Chow, P AbdelMalik, M Gheorghiu, J Husted, ...
American Journal of Psychiatry 160 (9), 1580-1586, 2003
4172003
Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder
K Tammimies, CR Marshall, S Walker, G Kaur, B Thiruvahindrapuram, ...
Jama 314 (9), 895-903, 2015
4102015
Beckwith–wiedemann syndrome
R Weksberg, C Shuman, AC Smith
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2005
3952005
SHANK1 deletions in males with autism spectrum disorder
D Sato, AC Lionel, CS Leblond, A Prasad, D Pinto, S Walker, I O'Connor, ...
The American Journal of Human Genetics 90 (5), 879-887, 2012
3892012
Beckwith–Wiedemann syndrome
S Choufani, C Shuman, R Weksberg
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2010
3882010
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome
R Weksberg, C Shuman, O Caluseriu, AC Smith, YL Fei, J Nishikawa, ...
Human Molecular Genetics 11 (11), 1317-1325, 2002
3882002
Unbalanced placental expression of imprinted genes in human intrauterine growth restriction
J McMinn, M Wei, N Schupf, J Cusmai, EB Johnson, AC Smith, ...
Placenta 27 (6-7), 540-549, 2006
3782006
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
CF Boerkoel, H Takashima, J John, J Yan, P Stankiewicz, L Rosenbarker, ...
Nature genetics 30 (2), 215-220, 2002
3782002
The system can't perform the operation now. Try again later.
Articles 1–20