Sheridan O'donnell
New South Wales Health, Cnr. Turton Rd And Tinonee Rd
Waratah, NSW 2298, Australia
Waratah, NSW 2298, Australia
Last Updated: 09/26/2026
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Found 12 publications
Expansion of the Phenotypic Spectrum of TNRC6B-Related Neurodevelopmental Disorder in a Three-Generation Family with 22q13.1 Deletion.
Journal: Genes
Published: March 02, 2026
FGFR1 Tyrosine Kinase Domain Variant p.Val561Met in Caudal Dysraphism: A Case Report.
Journal: Birth defects research
Published: July 31, 2025
CRELD1-Associated Neurodevelopmental Disorder: Three New Individuals from Unrelated Families.
Journal: Genes
Published: July 21, 2025
Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant.
Journal: Clinical dysmorphology
Published: February 13, 2024
EED related overgrowth: First report of multiple members in a single family.
Journal: American journal of medical genetics. Part A
Published: June 27, 2023
Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092).
Journal: Cold Spring Harbor molecular case studies
Published: June 28, 2019
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability.
Journal: BMC biotechnology
Published: April 24, 2017
Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.
Journal: European journal of medical genetics
Published: June 25, 2015
A familial 7q36.3 duplication associated with agenesis of the corpus callosum.
Journal: American journal of medical genetics. Part A
Published: December 17, 2014
An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.
Journal: European journal of medical genetics
Published: August 16, 2013
Showing 1-12 of 12
Last Updated: 09/26/2026