Patrick T. Shannon
Mount Sinai Hospital
ON, Canada
ON, Canada
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 72 publications
Interhemispheric fissure distortion in fetal open spina bifida: an under-recognized prenatal ultrasound finding.
Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: March 26, 2026
Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.
Journal: American journal of human genetics
Published: January 19, 2026
The fetal taenia-tela choroidea complex: a radiologic-pathologic correlation from normal anatomy to Dandy-Walker malformation.
Journal: Pediatric radiology
Published: December 13, 2025
Diagnostic yield and imaging: aetiology correlations in prenatal intracranial haemorrhage-a retrospective cohort study.
Journal: Archives of disease in childhood. Fetal and neonatal edition
Published: December 06, 2025
Fetal and Neonatal Brain Tumors: An Imaging Review.
Journal: Neuroimaging clinics of North America
Published: November 22, 2025
Primordial Germ Cells in the Human Fetal Brain: Origins of Intracranial Germ Cell Tumours.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: November 05, 2025
WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models.
Journal: Developmental biology
Published: September 19, 2025
Periventricular Nodular Heterotopia, Cerebellar Hypodysgenesis, and Mesial Temporal Malformation Detected on Fetal MRI: An Underrecognized Association.
Journal: AJNR. American journal of neuroradiology
Published: July 07, 2025
Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.
Journal: The Journal of clinical investigation
Published: June 10, 2025
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.
Journal: medRxiv : the preprint server for health sciences
Published: May 19, 2025
Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5.
Journal: American journal of medical genetics. Part A
Published: April 24, 2025
KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis.
Journal: Prenatal diagnosis
Published: January 16, 2025
Last Updated: 09/26/2026