Author

Guy Helman

Royal Children's HospitalORCID 0000-0002-4784-7423Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Approach:experimental assay· 2 Approach:statistical model· 2

Frequent Co-Authors

Cas SimonsiD· 4 shared Adeline L. VanderveriD· 2 shared Marzena Walkiewicz· 2 shared Ryan J. TaftiD· 2 shared Adam M. CoombsiD· 1 shared Aida Maria Bertoli‐AvellaiD· 1 shared Albee MessingiD· 1 shared Ali S. FatemiiD· 1 shared

Activity by Year

2019-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 23 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Cas SimonsORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMar 25, 2026

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

Raffaella De Pace, Carlos A Dominguez Gonzalez, Chad D. Williamson…·Adeline L. Vanderver

This study identifies BLOC1S1 variants causing a hypomyelinating leukodystrophy with epileptic encephalopathy, showing impaired lysosomal and autophagic function.

2 citationstop 4%

humanexperimental assay

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Genetic & Genomic MedicineHuman MutationPeer-reviewedNov 10, 2020

RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency.

Guy Helman, Alison G. Compton, Daniella Helena Hock…·Cas Simons

The paper identifies a deep intronic variant in NDUFB10 causing a cryptic exon and isolated Complex I deficiency through RNA sequencing in two affected siblings.

30 citations

humanbulk RNA-seq

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GeneticsHuman MutationPeer-reviewedMar 3, 2020

Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.

Guy Helman, Asako Takanohashi, Tracy L. Hagemann…·Cas Simons

23 citations

humanbulk RNA-seq

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GenomicsThe American Journal of Human GeneticsPeer-reviewedOct 3, 2019

Heterozygous variants in the mechanosensitive ion channel TMEM63A result in transient hypomyelination during infancy

Huifang Yan, Guy Helman, Swetha E. Murthy…·Nicole I. Wolf

This study identifies heterozygous TMEM63A variants causing transient hypomyelination in infancy, with clinical improvement over time.

95 citations

humanexperimental assay

𝕏 PostBluesky