Author

Nara Lygia de Macena Sobreira

Johns Hopkins UniversityORCID 0000-0002-5228-5613Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Approach:benchmark study· 1 Research Focus:database / resource· 1

Frequent Co-Authors

David L. ValleiD· 3 shared Ada HamoshiD· 2 shared Claudia M.B. CarvalhoiD· 2 shared Eric BoerwinkleiD· 2 shared James R. LupskiiD· 2 shared Jennifer Ellen PoseyiD· 2 shared Richard A. GibbsiD· 2 shared Shalini N. JhangianiiD· 2 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenomics

David L. ValleORCID

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3 papers

Recent·Most cited

GenomicsGenetics in Medicine OpenPeer-reviewedJan 1, 2024

The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits

Zeynep Coban‐Akdemir, Xiaofei Song, Francisco C. Ceballos…·James R. Lupski

The paper analyzes the Turkish population's variome to understand its impact on rare disease traits, finding that long ROHs and inbreeding contribute to recessive diseases.

12 citations

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedFeb 8, 2022

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Samantha M. Baxter, Jennifer Ellen Posey, Nicole J. Lake…·Kurt N. Hetrick

The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.

72 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintDec 19, 2019

Loss of function variants in PCYT1A causing spondylometaphyseal dysplasia with cone/rod dystrophy have broad consequences on lipid metabolism, chondrocyte differentiation, and lipid droplet formation.

Julie A. Jurgens, Suming Chen, Nara Lygia de Macena Sobreira…·David L. Valle

This study investigates the effects of PCYT1A variants on lipid metabolism, chondrocyte differentiation, and lipid droplet formation using cellular models and lipidomics.

DOI 10.1101/2019.12.19.882191

humanproteomics

𝕏 PostBluesky