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- 2020
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Mark
Methylation patterns and chromatin accessibility in neuroendocrine lung cancer
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- Contribution to journal › Article
- 2018
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Mark
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies
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- Contribution to journal › Article
- 2017
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Mark
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS and neurological symptoms
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- Contribution to journal › Article
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Mark
Ataxia-pancytopenia syndrome with SAMD9L mutations
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- Contribution to journal › Article
- 2016
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Mark
Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p.
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- Contribution to journal › Article
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Mark
Small molecule screen identifies differentiation-promoting compounds targeting genetically diverse acute myeloid leukaemia.
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- Contribution to journal › Article
- 2014
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Mark
The epigenetic landscape of aneuploidy: constitutional mosaicism leading the way?
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- Contribution to journal › Article
- 2013
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Mark
Constitutional trisomy 8 mosaicism as a model for epigenetic studies of aneuploidy.
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- Contribution to journal › Article
- 2010
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Mark
dup(19)(q12q13.2): Array-based Genotype-Phenotype Correlation of a New Possibly Obesity-related Syndrome.
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- Contribution to journal › Article
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Mark
Relapsed childhood high hyperdiploid acute lymphoblastic leukemia: presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations.
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- Contribution to journal › Article