Henry Houlden · researcher · YYNN

Henry Houlden

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researcher

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Works
6

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

scientific journal article

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

scientific article published on 04 November 2021

Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels

scientific article

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

scientific article published on 01 May 2022

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

scientific article published in October 2021

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

scientific article published on 09 November 2020

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