Rachid Karam
Rachid Karam
Ambry Genetics
Verified email at ambrygen.com - Homepage
TitleCited byYear
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay
IG Bruno, R Karam, L Huang, A Bhardwaj, CH Lou, EY Shum, HW Song, ...
Molecular cell 42 (4), 500-510, 2011
Evidence for an association of human papillomavirus and breast carcinomas
APS Damin, R Karam, CG Zettler, M Caleffi, COP Alexandre
Breast cancer research and treatment 84 (2), 131-137, 2004
Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer
T Frebourg, C Oliveira, P Hochain, R Karam, S Manouvrier, C Graziadio, ...
Journal of medical genetics 43 (2), 138-142, 2006
Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression
C Oliveira, S Sousa, H Pinheiro, R Karam, R Bordeira–Carriço, J Senz, ...
Gastroenterology 136 (7), 2137-2148, 2009
RNA homeostasis governed by cell type-specific and branched feedback loops acting on NMD
L Huang, CH Lou, W Chan, EY Shum, A Shao, E Stone, R Karam, ...
Molecular cell 43 (6), 950-961, 2011
Regulation of nonsense-mediated mRNA decay: implications for physiology and disease
R Karam, J Wengrod, LB Gardner, MF Wilkinson
Biochimica et Biophysica Acta (BBA)-Gene Regulatory Mechanisms 1829 (6-7 …, 2013
Posttranscriptional control of the stem cell and neurogenic programs by the nonsense-mediated RNA decay pathway
CH Lou, A Shao, EY Shum, JL Espinoza, L Huang, R Karam, ...
Cell reports 6 (4), 748-764, 2014
The UPF1 RNA surveillance gene is commonly mutated in pancreatic adenosquamous carcinoma
C Liu, R Karam, YQ Zhou, F Su, Y Ji, G Li, GT Xu, LX Lu, CR Wang, ...
Nature medicine 20 (6), 596, 2014
The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers
R Karam, J Carvalho, I Bruno, C Graziadio, J Senz, D Huntsman, ...
Oncogene 27 (30), 4255, 2008
The unfolded protein response is shaped by the NMD pathway
R Karam, CH Lou, H Kroeger, L Huang, JH Lin, MF Wilkinson
EMBO reports 16 (5), 599-609, 2015
Beyond DNA: an integrated and functional approach for classifying germline variants in breast cancer genes
T Pesaran, R Karam, R Huether, S Li, S Farber-Katz, A Chamberlin, ...
International journal of breast cancer 2016, 2016
A conserved microRNA/NMD regulatory circuit controls gene expression
R Karam, M Wilkinson
RNA biology 9 (1), 22-26, 2012
Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
JL Mester, R Ghosh, T Pesaran, R Huether, R Karam, KS Hruska, ...
Human mutation 39 (11), 1581-1592, 2018
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants
K Lee, K Krempely, ME Roberts, MJ Anderson, F Carneiro, E Chao, ...
Human mutation 39 (11), 1553-1568, 2018
Unexpected CDH1 Mutations Identified on Multigene Panels Pose Clinical Management Challenges
K Lowstuter, CR Espenschied, D Sturgeon, C Ricker, R Karam, H LaDuca, ...
JCO Precision Oncology 1, 1-12, 2017
Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect
G Corso, J Figueiredo, C La Vecchia, P Veronesi, G Pravettoni, D Macis, ...
Journal of medical genetics 55 (7), 431-441, 2018
Quantitative analysis of BRCA1 and BRCA2 germline splicing variants using a novel RNA-massively parallel sequencing assay
S Farber-Katz, V Hsuan, S Wu, T Landrith, H Vuong, D Xu, B Li, J Hoo, ...
Front Oncol 8, 286, 2018
Osteogênesis imperfecta
DB CASTRO, M Ertel, RA Karam, R Bonfa, F Vargas, COP Alexandre
Porto Alegre, 2000
DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes
ME Richardson, H Chong, W Mu, BR Conner, V Hsuan, S Willett, S Lam, ...
Genetics in Medicine 21 (3), 683, 2019
ClinGen and genetic testing
R Karam, T Pesaran, E Chao
New England Journal of Medicine 373 (14), 1376-1377, 2015
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