Dragana J. Josifova

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 34 publications

Comprehensive Structural MRI Phenotyping in Oligophrenin 1-Related Disorder Reveals Characteristic Brain Malformations.

Comprehensive Structural MRI Phenotyping in Oligophrenin 1-Related Disorder Reveals Characteristic Brain Malformations.

Journal: AJNR. American journal of neuroradiology

Published: September 19, 2025

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

Journal: American journal of human genetics

Published: July 24, 2024

Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder.

Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: August 25, 2023

Cerebral folate deficiency: a treatable cause of late deterioration in epilepsy with developmental delay.

Cerebral folate deficiency: a treatable cause of late deterioration in epilepsy with developmental delay.

Journal: Practical neurology

Published: August 23, 2023

De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism.

De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism.

Journal: The Journal of clinical investigation

Published: July 07, 2023

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.

Journal: Genome medicine

Published: June 16, 2023

Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.

Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.

Journal: Journal of medical genetics

Published: April 26, 2023

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.

Journal: American journal of human genetics

Published: March 13, 2023

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

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

Published: December 21, 2022

Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.

Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.

Journal: American journal of medical genetics. Part A

Published: January 06, 2022

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.

Journal: Nature communications

Published: November 11, 2021

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Journal: The New England journal of medicine

Published: November 10, 2021

Showing 1-12 of 34

Last Updated: 09/26/2026