Alison R. Castle

Vancouver, BC, Canada

Last Updated: 09/26/2026

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Found 9 publications

Congenital Inborn Errors of Metabolism: Clinical and Imaging Pearls.

Congenital Inborn Errors of Metabolism: Clinical and Imaging Pearls.

Journal: Radiographics : a review publication of the Radiological Society of North America, Inc

Published: January 16, 2026

Early-Onset Macrosomia, Advanced Brain Maturation, and Gonadoblastoid Testicular Dysplasia in a Fetus With a PTEN Variant.

Early-Onset Macrosomia, Advanced Brain Maturation, and Gonadoblastoid Testicular Dysplasia in a Fetus With a PTEN Variant.

Journal: Prenatal diagnosis

Published: November 20, 2024

Working together: development of a genetic counselling curriculum in a medical genetics residency training program.

Working together: development of a genetic counselling curriculum in a medical genetics residency training program.

Journal: Journal of community genetics

Published: October 09, 2024

Multiple café-au-lait macules, axillary freckling, and hypopigmented macules in a child.

Multiple café-au-lait macules, axillary freckling, and hypopigmented macules in a child.

Journal: Pediatric dermatology

Published: June 10, 2024

Rhabdomyosarcoma as the first presentation in Neurofibromatosis Type 1: case series and review of the literature.

Rhabdomyosarcoma as the first presentation in Neurofibromatosis Type 1: case series and review of the literature.

Journal: Pediatric hematology and oncology

Published: January 10, 2023

Porokeratotic eccrine ostial and dermal duct nevus associated with an 11 megabase 3p deletion.

Porokeratotic eccrine ostial and dermal duct nevus associated with an 11 megabase 3p deletion.

Journal: Pediatric dermatology

Published: July 22, 2021

Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1.

Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1.

Journal: Neurology. Genetics

Published: March 28, 2021

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Journal: American journal of human genetics

Published: December 07, 2020

Blindness Caused by a Junk Food Diet.

Blindness Caused by a Junk Food Diet.

Journal: Annals of internal medicine

Published: April 21, 2020

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Last Updated: 09/26/2026