Dimitar N. Azmanov
Perth, WA, Australia
Last Updated: 09/26/2026
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Found 24 publications
Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability.
Journal: The Journal of molecular diagnostics : JMD
Published: June 10, 2025
Clinical Implementation of RHD NIPT in a Tertiary Obstetric Centre in Western Australia.
Journal: The Australian & New Zealand journal of obstetrics & gynaecology
Published: March 14, 2025
Nationwide, Couple-Based Genetic Carrier Screening.
Journal: The New England journal of medicine
Published: November 20, 2024
Epilepsy surgery in PCDH 19 related developmental and epileptic encephalopathy: A case report.
Journal: Epilepsy & behavior reports
Published: April 22, 2022
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 10, 2021
Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement.
Journal: American journal of medical genetics. Part A
Published: March 04, 2021
Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.
Journal: Cold Spring Harbor molecular case studies
Published: November 06, 2020
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.
Journal: Frontiers in molecular neuroscience
Published: October 18, 2019
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.
Journal: Journal of medical genetics
Published: August 09, 2019
Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.
Journal: NPJ genomic medicine
Published: June 25, 2019
Last Updated: 09/26/2026