Olivera Boskovic-Spasic

Cambridge, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 10 publications

Biallelic CACNA1A variants: Review of literature and report of a child with drug-resistant epilepsy and developmental delay.

Biallelic CACNA1A variants: Review of literature and report of a child with drug-resistant epilepsy and developmental delay.

Journal: American journal of medical genetics. Part A

Published: March 31, 2022

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

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

Journal: PloS one

Published: April 14, 2021

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.

Journal: Frontiers in genetics

Published: February 13, 2019

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.

Journal: Cancer cell

Published: June 01, 2018

Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.

Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.

Journal: BMC nephrology

Published: January 05, 2017

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

Journal: Neurogenetics

Published: October 14, 2016

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

Journal: Human mutation

Published: March 25, 2015

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.

Journal: American journal of human genetics

Published: January 07, 2014

Ascorbate prevents placental oxidative stress and enhances birth weight in hypoxic pregnancy in rats.

Ascorbate prevents placental oxidative stress and enhances birth weight in hypoxic pregnancy in rats.

Journal: The Journal of physiology

Published: February 01, 2012

Showing 1-10 of 10

Last Updated: 09/26/2026