DmitriyM.NiyazovMDFACMG(He/Him)

PubMed

• 960 citations
  A copy number variation morbidity map of developmental delay
  Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan, Jill A. Rosenfeld, Tiffany H. Vu
  Nature Genetics. 2011-09-01
• 4 citations
  Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital ...
  Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P Ferla, Shahryar Alavi
  Genetics in Medicine. 2023-01-01
• 404 citations
  Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
  Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe, Sumit Parikh, Neil R. Friedman
  The New England Journal of Medicine. 2012-10-03

Journal Articles

• Hepatic cirrhosis & neurological deficits in a male with de novo heteroplasmic mitochondrial DNA mutation  
  Niyazov D, Serrano M, Reichman T, Mitochondrion, 1/1/2013
• Diagnosis and treatment of secondary mitochondrial disease  
  Niyazov D, Africk D, Mitochondrion, 1/1/2012
• The Coffin-Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases  
  Schrier SA, Bodurtha JN, Burton B, Chudley AE, Chiong MA, D'avanzo MG, Lynch SA, Musio A, Nyazov DM, Sanchez-Lara PA, Shalev SA, Deardorff MA, Am J Med Genet A, 1/1/2012

Abstracts/Posters

• Compound Heterozygous Variants in ABCB11 Cause Progressive Familial Intrahepatic Cholestasis type 2 and no Immunohistochemical Defect in Hepatocyte Bile Salt Export Pump.
  Niyazov D, Annual Meeting of the American College of Medical Genetics (ACMG), Phoenix, AZ, 1/1/2017
• Organ Transplantation in Mitochondrial Disease: Proceed with Caution
  Niyazov D, Annual Meeting of the Society for Inherited Metabolic Disorders (SIMD), Ponte Vedra Beach, FL, 1/1/2016
• Whole Exome Sequencing and Whole Mitochondrial Genome Sequencing for the Molecular Diagnosis of Mitochondrial Disorders.
  Niyazov D, Annual Meeting of the American Society of Human Genetics (ASHG), Baltimore, MD, 1/1/2015
• Whole Exome Sequencing plus Whole Mitochondrial Genome Sequencing for Clinical Molecular Diagnosis of Mitochondrial Disorders: Lesson from 1020 families.
  Niyazov D, Annual Meeting of the United Mitochondrial Disease Foundation (UMDF), Washington, DC, 1/1/2015
• Iron Metabolism in Mitochondrial Disorders.
  Niyazov D, Annual Meeting of the American College of Medical Genetics (ACMG), Salt Lake City, UT, 1/1/2015
• Charcot-Marie-Tooth disease type 2K and Secondary Mitochondrial Dysfunction in a patient with the 8q21.11 deletion and haploinsufficiency of the GDAP1 gene.
  Niyazov D, Annual Meeting of the United Mitochondrial Disease Foundation (UMDF), Pittsburgh, PA, 1/1/2014
• Mitochondrial DNA in Cirrhosis and Neurodegeneration.
  Niyazov D, Annual Meeting of the American College of Medical Genetics (ACMG), Nashville, TN, 1/1/2014
• Hepatic Cirrhosis & Neurological Deficits in a Male with de novo Heteroplasmic Mitochondrial DNA mutation.
  Niyazov D, Annual Meeting of the United Mitochondrial Disease Foundation (UMDF), Newport Beach, CA, 1/1/2013
• Use of mitochondrial immuofluorescence assay on frozen muscle tissue in the diagnosis of mitochondrial disorders-a five case illustration.
  Niyazov D, Annual Meeting of the Annual Am Assoc Neuropathology, 1/1/2012
• Diagnosis of mitochondrial disorders using a tissue-based mitochondrial immunofluorescence assay-A five case illustration.
  Adesina AM, Mehta V, Ellezam B, Niyazov D, Lotze T, Wong L-J, Scaglia F, J Neuropath Exp Neurol, 1/1/2012
• Diagnosis and Treatment of Secondary Mitochondrial Disease.
  Niyazov D, Annual Meeting of the United Mitochondrial Disease Foundation (UMDF), Bethesda, MD, 1/1/2012
• Mitochondrial Defects and Iron Deficiency State.
  Niyazov D, Lousiana State University Research Night, New Orleans, LA, 1/1/2012
• Paternal Uniparental Disomy 6 and 2q13 deletion detected prenatally in a patient with cardiac defects, transient neonatal diabetes mellitus, hydrocephalus and dysmorph...
  Niyazov D, Annual Meeting of the American Society of Human Genetics (ASHG), San Francisco, CA, 1/1/2012
• Heart transplantation for a patient with Kearns-Sayre syndrome and end-stage heart failure.
  Niyazov D, Annual Meeting of the United Mitochondrial Disease Foundation (UMDF), Chicago, IL, 1/1/2011
• Heart Transplantation for a Patient with Kearns-Sayre Syndrome and End-Stage Heart Failure.
  Niyazov D, Ochsner Research Night, New Orleans, LA, 1/1/2011
• Fibular Aplasia in Acro-Cardio-Facial Syndrome: expanding phenotypic spectrum in search for causative gene(s).
  Niyazov D, Annual Meeting of the American Society of Human Genetics (ASHG), Washington, DC, 1/1/2010
• Investigation of Cloacal Dysgenesis Sequence using fetal imaging, genetic testing and autopsy.
  Niyazov D, Annual Meeting of the American Society of Human Genetics (ASHG), Washington, DC, 1/1/2010
• Patients with heterozygous deletion of NRXN1a present with variable phenotype from mental retardation, developmental delay, seizures, cardiac conduction defects to app...
  Niyazov D, Annual Meeting of the American Society of Human Genetics (ASHG), Washington, DC, 1/1/2010
• Characterization of a new maternal differentially methylated region at the 18q23.
  Niyazov D, Annual Meeting of the American Society of Human Genetics (ASHG), Washington, DC, 1/1/2010
• Chromosome 2 deletion in familial developmental delay and autism.
  Niyazov D, annual Ochsner Research Night, New Orleans, LA, 1/1/2009
• NRXN1 gene deletion in a family with variable developmental delay, autism and previously unreported cardiac conduction anomalies.
  Niyazov D, Annual Meeting of the American College of Medical Genetics (ACMG), San Diego, CA, 1/1/2009
• Combined D-and L-2-Hydroxyglutaric Aciduria.
  Niyazov D, First Meeting of Genetic Metabolic Dieticians International (GMDI), Atlanta, GA, 1/1/2006
• Mosaicism for Two De Novo Chromosome 8 Markers.
  Niyazov D, Annual Meeting of the American College of Medical Genetics (ACMG), San Diego, CA, 1/1/2006
• fMRI/TMS: Motor Imagery, Movement and Coil Orientation.
  Niyazov D, Annual Meeting of the International Society of Magnetic Resonance in Medicine, Miami, FL, 1/1/2005
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Lectures

• Genetics of Autism: Single Genes, Chromosomes and Metabolism. 
  New Orleans, LA - 1/1/2017
• Mitochondrial Disease 
• Day in Genetics 
• http://epostersonline.com/acmg2017/node/2025 
• Genetic Testing in 2016: Overview & Clinical Applications. 
  Ochsner Westbank, New Orleans, LA - 1/1/2016
• Genetic Aspects of Hypophosphatasia. 
  Washington, DC - 1/1/2016
• Genetic Testing for Hereditary Cancer. 
  Baton Rouge, LA - 1/1/2016
• Genetic Testing in Cardiology: Clinical Utility and Accessibility. 
  Baton Rouge, LA - 1/1/2016
• WES in a week: Rapid exome testing for critical care. 
  Tampa, FL - 1/1/2016
• Interpretation of mitochondrial genetics and the emerging role of genetics in diagnosis and treatment. 
  Atlanta, GA - 1/1/2015
• Clinical Rapid Whole Exome Sequencing Experience. 
  Baltimore, MD - 1/1/2015
• Mitochondrial Disease: Challenges of Diagnosis and Treatment. 
  Portsmouth, NH - 1/1/2015
• Utilization of Chromosomal Microarray in Pediatric Neurology. 
  Le Bonheur Medical Center, Memphis, TN - 1/1/2015
• Mitochondrial Disease: Primary and Secondary. 
  Chicago, IL - 1/1/2015
• Mitochondrial Disease and Autism. 
  Pensacola, FL - 1/1/2014
• Primary and Secondary Mitochondrial Disease. 
  Greensboro, NC - 1/1/2014
• Genetics of Mitochondria and Autism. 
  Creative Learning Center, New Orleans, LA - 1/1/2014
• Autism and Mitochondrial Disease. 
  New Orleans, LA - 1/1/2014
• Missense Mutations in MAF Cause Fine-Lubinsky syndrome. 
  Madison, WI - 1/1/2014
• Chromosomal Microarray in a Clinical Setting. 
  St. Francis Medical Center, Monroe, LA - 1/1/2013
• Genetics of Autism: Complexity of Multiple Etiologies. 
  Pensacola, FL - 1/1/2013
• Chromosomal Microarray in a Prenatal Setting. 
  Piedmont Hospital, Atlanta, GA - 1/1/2013
• Chromosomal Microarray: Practical Uses Prenatally. 
  St. Barnabas Medical Center, Livingston, NJ - 1/1/2013
• Genetics of Craniofacial Anomalies. 
  Louisiana State University School of Medicine - 1/1/2012
• Chromosomal Microarray for Neurologists. 
  Center of Neurological and Neurodevelopmental Health, Gibbsboro, NJ - 1/1/2012
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Other

• Genetics of Autism: Chromosomal and Metabolic Causes. 
  Niyazov D, Autism One Annual Meeting
  www.autismone.org/content/genetics-autism-chromosomes-mitochondria-dmitriy-niyazov-md
  Chicago, IL - 1/1/2016
• Autism and Advanced Paternal & Maternal Age. 
  Niyazov D, TV Interview, WDSU Channel
  New Orleans, LA - 1/1/2013
• Mitochondrial Disease: Challenges of Diagnosis and Treatment. 
  Niyazov D, Annual Meeting of the United Mitochondrial Disease Foundation (UMDF)
  http://vimeo.com/70942314
  Newport Beach, CA - 1/1/2013
• New DSM-V criteria for definition of Autism. 
  Niyazov D, WWLTV Interview
  1/1/2012
• Genetics of Autism: From Chromosomes to Mitochondria. 
  Niyazov D, Annual Meeting of Autism Society of America
  www.youtube.com/watch?v=CKJsu2NM-Ps
  Orlando, FL - 1/1/2011
• "Hello Health: Genetic Breast Cancer Screening with Dr. Dmitriy Niyazov" 
  Niyazov D, TV Interview
  https://www.youtube.com/watch?v=om8FPPF7RD8
  New Orleans, LA - 1/1/2009
• Genetics of Cancer. 
  Niyazov D, TV Interview, ABC26 News
  New Orleans, LA - 1/1/2008
• Inheritance of Autism. 
  Niyazov D, TV Interview, WDSU-NBC News
  New Orleans, LA - 1/1/2008
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