Dmitriy M. Niyazov

Dmitriy M. Niyazov

Medical Genetics

2301 Erwin Rd
Durham, NC 27705

Last Updated: 09/26/2026

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Found 36 publications

Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis.

Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis.

Journal: JIMD reports

Published: August 07, 2025

Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing.

Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing.

Journal: Molecular genetics and metabolism reports

Published: July 23, 2025

Two Novel Pediatric Cases of EIF4A2 -Related Disorder With Refractory Infantile Spasms.

Two Novel Pediatric Cases of EIF4A2 -Related Disorder With Refractory Infantile Spasms.

Journal: American journal of medical genetics. Part A

Published: May 20, 2025

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

Journal: Brain communications

Published: July 02, 2024

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Journal: Nature communications

Published: February 06, 2024

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

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

Published: April 10, 2022

Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.

Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.

Journal: American journal of medical genetics. Part A

Published: December 14, 2020

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.

Journal: The Journal of clinical investigation

Published: July 09, 2020

Novel NUDT2 variant causes intellectual disability and polyneuropathy.

Novel NUDT2 variant causes intellectual disability and polyneuropathy.

Journal: Annals of clinical and translational neurology

Published: June 08, 2020

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

Journal: American journal of medical genetics. Part A

Published: October 08, 2019

Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.

Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.

Journal: American journal of medical genetics. Part A

Published: October 07, 2019

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

Journal: American journal of human genetics

Published: September 23, 2019

Showing 1-12 of 36

Last Updated: 09/26/2026