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Jacek Majewski

McGill University
Rockefeller University

336

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19621

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Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial Cancer

2021 bioRxiv
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Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.

2021 Human Molecular Genetics
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Chromatin dysregulation associated with NSD1 mutation in head and neck squamous cell carcinoma

2021 Cell Reports
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Combined lung small cell carcinoma revealed to be an intratumoural metastasis by genetic analysis

2021 Annals of Oncology
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A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.

2021 Genome Medicine
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Author response for "Novel pathogenic variants in NLRP7 , NLRP5 , and PADI6 in patients with recurrent hydatidiform moles and reproductive failure"

2021
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Two competing mechanisms of DNMT3A recruitment regulate the dynamics of de novo DNA methylation at PRC1-targeted CpG islands.

2021 Nature Genetics
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Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of 7 new subjects and review of the literature.

2020 Journal of Inherited Metabolic Disease
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Mis-splicing of Mdm2 leads to increased P53-activity and craniofacial defects in a MFDM Eftud2 mutant mouse model

2020 bioRxiv
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Channelopathies are a frequent cause of genetic ataxias associated with cerebellar atrophy

2020 Movement Disorders Clinical Practice
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