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Alejandro Martin-Trujillo

Icahn School of Medicine at Mount Sinai

12

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189

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Pervasive cis effects of variation in copy number of large tandem repeats on local epigenetics and gene expression

2020 bioRxiv
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A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions.

2020 American Journal of Human Genetics
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A survey of rare epigenetic variation in 23,116 human genomes identifies disease-relevant epivariations and novel CGG expansions

2020 bioRxiv
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Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.

2020 PLOS Genetics
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Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors

2017 Nature Communications
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Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects

2016 Clinical Epigenetics
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Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting.

2015 PLOS Genetics
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Human imprinted retrogenes exhibit non-canonical imprint chromatin signatures and reside in non-imprinted host genes

2011 Nucleic Acids Research
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