Jacek Majewski

Human Genetics McGill University, Montreal, QC, Canada 
"Jacek Majewski"
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Chen OJ, Castellsagué E, Moustafa-Kamal M, et al. (2022) Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial Cancer. Cancer Research
Farhangdoost N, Horth C, Hu B, et al. (2021) Chromatin dysregulation associated with NSD1 mutation in head and neck squamous cell carcinoma. Cell Reports. 34: 108769
Rajagopalan KN, Chen X, Weinberg DN, et al. (2021) Depletion of H3K36me2 recapitulates epigenomic and phenotypic changes induced by the H3.3K36M oncohistone mutation. Proceedings of the National Academy of Sciences of the United States of America. 118
Beauchamp MC, Djedid A, Bareke E, et al. (2021) Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53. Human Molecular Genetics
Harutyunyan AS, Chen H, Lu T, et al. (2020) H3K27M in Gliomas Causes a One-Step Decrease in H3K27 Methylation and Reduced Spreading within the Constraints of H3K36 Methylation. Cell Reports. 33: 108390
Gauquelin L, Hartley T, Tarnopolsky M, et al. (2020) Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy. Movement Disorders Clinical Practice. 7: 940-949
Cavallone L, Aguilar-Mahecha A, Lafleur J, et al. (2020) Prognostic and predictive value of circulating tumor DNA during neoadjuvant chemotherapy for triple negative breast cancer. Scientific Reports. 10: 14704
Evans DR, Green JS, Fahiminiya S, et al. (2020) A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features. Scientific Reports. 10: 10827
Johnstone DL, Nguyen TTM, Zambonin J, et al. (2020) Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of 7 new subjects and review of the literature. Journal of Inherited Metabolic Disease
Nikbakht H, Jessa S, Sukhai MA, et al. (2020) Latency and interval therapy affect the evolution in metastatic colorectal cancer. Scientific Reports. 10: 581
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