Author

Joshua Manor

Baylor College of MedicineORCID 0000-0003-4513-8292Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Organism:Drosophila· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Adi Levy-Memo· 1 shared Ann B. MoseriD· 1 shared Ann SaadaiD· 1 shared Avraham Shaag· 1 shared Chaggai RosenbluhiD· 1 shared Dolores J. LambiD· 1 shared Hagar Mor‐ShakediD· 1 shared Hillary Chester· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 16 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adi Levy-Memo

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 1, 2026

In vitro splice-switching oligonucleotide rescues aberrant GFM2 pseudoexon inclusion and restores mitochondrial activity

Shira Gross, Rivka Birnbaum, Nava Shaul Lotan…·Tamar Harel

This study identifies a pathogenic GFM2 intronic duplication causing mitochondrial disease and shows that splice-switching oligonucleotides can rescue splicing defects and restore mitochondrial function in patient-derived cells.

DOI 10.64898/2026.05.28.26354078

humanwhole-genome sequencing

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GeneticsbioRxivPreprintSep 23, 2024

Genetic analysis of the X-linked Adrenoleukodystrophy ABCD1 gene in Drosophila uncovers a role in Peroxisomal dynamics

Joshua Manor, Sharayu V. Jangam, Hyung-Lok Chung…·Michael F. Wangler

This paper investigates the role of the Drosophila ABCD1 ortholog in peroxisomal dynamics and shows that human ABCD1 overexpression inhibits peroxisomal biogenesis.

2 citations

Drosophilaexperimental assay

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Genetic & Genomic MedicineKidney360Peer-reviewedOct 30, 2020

Clinical utility of genetic and genomic testing in the precision diagnosis and management of pediatric patients with kidney and urinary tract diseases

Nasim Bekheirnia, Kevin E. Glinton, Linda Z. Rossetti…·Mir Reza Bekheirnia

This study evaluates the clinical utility of genetic and genomic testing in pediatric kidney and urinary tract diseases, finding a 49% diagnostic yield and impact on treatment and diagnosis.

17 citations

humanwhole-exome sequencing

𝕏 PostBluesky