Dmitriy Niyazov, MD
- Sr Physician-Section Head, Southshore Region
- 1514 Jefferson Hwy, New Orleans, LA, 70121
For additional information or to make an appointment, click here.
Overview
Overview
- Dr. Dmitriy Niyazov completed medical school at the University of Rochester School of Medicine and graduated with distinction in research. He did his residency and fellowship in medical genetics at Emory University School of Medicine. He published in several peer-reviewed journals and presented at many international meetings. He joined Ochsner Health in 2008, where he practices medical genetics and is a member of the Ochsner Craniofacial Clinic. He also has an outreach clinic in Raceland at Ochsner St. Anne General Hospital. Since early 2008, he has been evaluating and treating children with autism and autistic spectrum. He also sees a significant number of pediatric and adult patients with mitochondrial disease. He has given several lectures to both parents and providers on genetics of autism and mitochondrial disease throughout Louisiana, Mississippi, Tennessee and Florida. One of his main goals is to bring more awareness to the community about the role of genetic abnormalities in autism and mitochondrial disease and what benefit genetic knowledge can add to diagnosis and treatment.Primary Referral Areas- Autism- Mitochondrial diseases- Developmental delay and Mental retardation- Chromosomal disorders- Birth defects- Short stature- Failure to thrive- Hearing loss- Craniofacial Multidisciplinary Clinic- Lysosomal storage diseases including enzyme replacement therapy- Adult genetic disorders including connective tissue, Huntington's, Alzheimer's- Prenatal counseling including teratology- Cancer counseling- Also see Pediatrics and Genetics services
Publications
Selected publications
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2021Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. American Journal of Human Genetics. 108:929-941.
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2021Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum. American Journal of Medical Genetics Part A. 185:2153-2159.
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2020Novel NUDT2 variant causes intellectual disability and polyneuropathy. Annals of Clinical and Translational Neurology.
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2020De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. American Journal of Medical Genetics Part A. 182:962-973.
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2020Novel NUDT2 variant causes intellectual disability and polyneuropathy. Annals of Clinical and Translational Neurology.
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2020Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities. European Journal of Human Genetics. 28:76-87.
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2020Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. American Journal of Medical Genetics Part A. 182:1426-1437.
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2019Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder. Human Genetics. 138:1259-1266.
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2019Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants. Neurology Genetics. 5.
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2019Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size. Brain. 142:2617-2630.
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2018An immune tolerance approach using methotrexate in the naive setting of patients treated with a therapeutic protein: Experience in infantile Pompe disease. Molecular Genetics and Metabolism. 123:S38-S38.
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2018Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder. Molecular Diagnosis & Therapy. 22:571-593.
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2018Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease. The Ochsner Journal. 18:413-416.
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2018Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. Journal of Medical Genetics. 55:561-566.
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2018Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings. Frontiers in Neurology. 9.
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2016De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. Human Genetics. 135:699-705.
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2016Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment. Molecular Syndromology. 7:122-137.
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2016SOLID ORGAN 'TRANSPLANTATION IN MITOCHONDRIAL DISEASE: PROCEED WITH CAUTION. Molecular Genetics and Metabolism. 117:276-277.
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2016The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genetics in Medicine. 18:1143-1150.
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2015MISSENSE MUTATIONS IN MAF CAUSE FINE-LUBINSKY SYNDROME. American Journal of Medical Genetics Part A. 167:1726-1727.
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2015Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency. Molecular Syndromology. 6:204-206.
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2015Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. American Journal of Human Genetics. 96:816-825.
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2015Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. American Journal of Human Genetics. 97:457-464.
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2013Familial Ebstein Anomaly, Left Ventricular Hypertrabeculation, and Ventricular Septal Defect Associated With a MYH7 Mutation. American Journal of Medical Genetics Part A. 161:3187-3190.
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2013Hepatic cirrhosis & neurological deficits in a male with de novo heteroplasmic mitochondrial DNA mutation. Mitochondrion. 13:938-938.
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2013Investigation of NRXN1 deletions: Clinical and molecular characterization. American Journal of Medical Genetics Part A. 717-731.
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2012Diagnosis of Mitochondrial Disorders Using a Tissue-based Mitochondrial Immunofluorescence Assay - A Five Case Illustration. Journal of Neuropathology and Experimental Neurology. 71:574-575.
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2012Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants. New England Journal of Medicine. 367:1321-1331.
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2011Distinctive Phenotype in 9 Patients With Deletion of Chromosome 1q24-q25. American Journal of Medical Genetics Part A. 1336-1351.
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2010A Newborn with Congenital Complete Atrioventricular Block, Lissencephaly, and Skeletal Abnormalities: A Case of Suspected Cytomegalovirus Infection. Congenital Heart Disease. 5:486-490.
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2010An Unusual Cardiac Defect in a Patient with Clinical Features Overlapping Between Cardiofaciocutaneous and Noonan Syndromes. Congenital Heart Disease. 5:70-75.
