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List of works by Ryan S Dhindsa

A transcriptome-based drug discovery paradigm for neurodevelopmental disorders

scientific article published on 07 November 2020

Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.

scientific article published on 17 April 2015

Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.

scientific article published on October 2015

From genetics to physiology at last

scientific article published in Nature

Genetic Discoveries Drive Molecular Analyses and Targeted Therapeutic Options in the Epilepsies.

scientific article published on October 2015

Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

scientific article published on 23 March 2021

Natural Selection Shapes Codon Usage in the Human Genome

scientific article published on 01 June 2020

Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

scientific article published on 10 August 2017

Rare variant contribution to human disease in 281,104 UK Biobank exomes

scientific article published on 10 August 2021

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

scientific article published on 15 January 2015

meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arrays

scientific article published on 01 October 2018

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