Dmitriy Niyazov
Tulane University(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → A copy number variation morbidity map of developmental delay(2011)1,390 cited
- → The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations(2016)81 cited
- → De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features(2016)80 cited
- → Solid organ transplantation in primary mitochondrial disease: Proceed with caution(2016)74 cited
- → TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants(2018)69 cited
- → Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability(2017)60 cited
- → Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size(2019)52 cited
- → Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management(2013)48 cited
- → Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations(2020)43 cited
- → Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges(2013)38 cited