Research and Publications
Total Publications: 125
Total Citations: 6615
h-index: 45
i10-index: 100
The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population.
source: Clin Genetpublication date: 1 July 2024
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
source: Clin Genetpublication date: 1 June 2024
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
source: Brainpublication date: 4 April 2024
Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.
source: PLoS Genetpublication date: 9 October 2023
Perinatal Outcomes in Foetuses with Increased Nuchal Translucency and Normal Karyotype: A Retrospective Cohort Study from the United Arab Emirates.
source: J Clin Medpublication date: 4 October 2023
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria.
publication date: 28 September 2023
Cerebral folate deficiency: A report of two affected siblings.
source: Mol Genet Metab Reppublication date: 12 April 2023
Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges.
source: Int J Environ Res Public Healthpublication date: 8 March 2023
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.
source: Am J Med Genet Apublication date: 1 March 2023
Deoxyguanosine Kinase Deficiency.
publication date: 9 February 2023