Author

Ronen Schneider

Boston Children's Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alan H. BeggsiD· 2 shared Alba Sanchis‐JuaniD· 2 shared Ana TöpfiD· 2 shared Anne O’Donnell‐LuriaiD· 2 shared Carsten G. BönnemanniD· 2 shared Casie A. GenettiiD· 2 shared Daniel G. MacArthuriD· 2 shared Eleina M. England· 2 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alan H. BeggsORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedApr 1, 2024

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Gabrielle Lemire, Alba Sanchis‐Juan, Kathryn Russell…·Anne O’Donnell‐Luria

The paper detects and classifies copy number variants in exome data from 6,633 families, identifying causal CNVs in 173 families and improving classification standards.

26 citationstop 2%

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintAug 8, 2023

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

Monica Hsiung Wojcik, Gabrielle Lemire, Maha Saad Zaki…·Anne O’Donnell‐Luria

This study evaluates genome sequencing's diagnostic yield in a cohort of undiagnosed rare disease patients, finding it solves 29.3% of cases with specific variant types not detectable by exome sequencing.

7 citations

humanwhole-exome sequencing

𝕏 PostBluesky