Cas P. Simons

50 Flemington Road
Parkville, VIC 3052, Australia

Last Updated: 09/26/2026

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Found 137 publications

Cardiomyopathy and Sudden Cardiac Death as a Rare Presentation of Mucolipidosis Type III in a Family With Compound Heterozygous Variants in GNPTAB.

Cardiomyopathy and Sudden Cardiac Death as a Rare Presentation of Mucolipidosis Type III in a Family With Compound Heterozygous Variants in GNPTAB.

Journal: Circulation. Genomic and precision medicine

Published: June 02, 2026

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

Journal: medRxiv : the preprint server for health sciences

Published: May 25, 2026

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: May 18, 2026

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.

Journal: Clinical genetics

Published: May 07, 2026

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

Journal: medRxiv : the preprint server for health sciences

Published: April 10, 2026

PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

Journal: medRxiv : the preprint server for health sciences

Published: April 10, 2026

The Evidence Aggregator: AI reasoning applied to rare disease diagnostics.

The Evidence Aggregator: AI reasoning applied to rare disease diagnostics.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 15, 2025

The psychosis spectrum and underlying factors in female youth with eating disorders: a cross-sectional observational experience sampling methodology study.

The psychosis spectrum and underlying factors in female youth with eating disorders: a cross-sectional observational experience sampling methodology study.

Journal: Frontiers in psychiatry

Published: September 29, 2025

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Journal: Nature genetics

Published: September 02, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

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

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

Journal: medRxiv : the preprint server for health sciences

Published: August 12, 2025

Showing 1-12 of 137

Last Updated: 09/26/2026