Author

Margaret Chen

Karolinska InstitutetORCID 0000-0002-3793-4064Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Immunology· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:metagenomics· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alain CarriéiD· 1 shared Alexandre C. PereiraiD· 1 shared Amanda J. HooperiD· 1 shared Anastasios E. DamdimopoulosiD· 1 shared Annette LeoniD· 1 shared C. Lisa KurtziD· 1 shared Carlos Fernández MoroiD· 1 shared Cinthia Elim JannesiD· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alain CarriéORCID

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2 papers

Recent·Most cited

Genderized Gut and Oral Microbiome Shifts: Uncovering Sex-Specific Dysbiosis in Pancreatic Cancer

Zara Ahmed Khan, Mahin Ghorbani, Leon Heffinger, Anastasios E. Damdimopoulos, Carlos Fernández Moro, Mikael Björnstedt, Matthias J. Löhr, Rainer Lothar Heuchel, Margaret Sällberg Chen, Dhifaf Sarhan

This study identifies gender-specific microbial dysbiosis in pancreatic cancer patients using microbiome data from 191 samples, revealing sex-related differences in bacterial composition and abundance.

bioRxiv · Oct 2, 2024 · PreprintImmunology

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

Joana Rita Chora, Michael A. Iacocca, Lukáš Tichý, Hannah Wand, C. Lisa Kurtz, Heather Zimmermann, Annette Leon, Maggie Williams, Steve Eric Humphries, Amanda J. Hooper, Mark Trinder, Liam R. Brunham, Alexandre C. Pereira, Cinthia Elim Jannes, Margaret Chen, , Mafalda Bourbon

The paper provides consensus guidelines for classifying LDLR variants in Familial Hypercholesterolemia using modified ACMG/AMP criteria.

Genetics in Medicine · Nov 30, 2021Peer-reviewedGenetic & Genomic Medicine