Author

J. Parmar

The University of Western AustraliaORCID 0000-0003-1864-8094Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

J. Parmar1 paper

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Organism:Drosophila· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

Gianina RavenscroftiD· 2 shared Nigel G. LaingiD· 2 shared A. Nazlı BaşakiD· 1 shared Abigail D. WilsoniD· 1 shared Albena JordanovaiD· 1 shared Alexander Martin RossoriD· 1 shared Ali CansuiD· 1 shared Andre L. M. ReisiD· 1 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Gianina RavenscroftORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 10, 2024

Biallelic variants in ARHGAP19 cause a motor-predominant neuropathy with asymmetry and conduction slowing

Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record…·Henry Houlden

The paper identifies biallelic variants in ARHGAP19 as a cause of motor-predominant neuropathy with conduction slowing in multiple families.

2 citations

humanDrosophila

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Genetic & Genomic MedicinemedRxivPreprintApr 22, 2024

A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing

Bianca Rose Grosz, J. Parmar, Melina Ellis…·Marina L. Kennerson

The paper identifies a deep intronic MME variant causing CMT through aberrant splicing, highlighting the importance of considering deep intronic variants in CMT diagnosis.

DOI 10.1101/2024.04.22.24306048

humanwhole-genome sequencing

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