DmitriyM.NiyazovMDFACMG(He/Him)

PubMed

• 3 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, Eissa Ali Faqeih, Emilia K Bijlsma, Kristen M Wigby, Diana Baralle, Mohammad Y V Mehrjardi, J...> ;Genetics in Medicine. 2023 Jan 1
• 9 citations
  Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation
  Daniel L. Polla, Andrew C. Edmondson, Sandrine Duvet, Michael E. March, Ana Berta Sousa, Anna Lehman, Dmitriy Niyazov, Fleur S van Dijk, Serwet Demirdas, Marjon van Sl...> ;American Journal of Human Genetics. 2021 Jul 1
• 4 citations
  Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum
  Richard Coulie, Dmitriy Niyazov, Michael J. Gambello, Elodie Fastré, Pascal Brouillard, Miikka Vikkula> ;American Journal of Medical Genetics. Part A. 2021 Apr 14
• 8 citations
  Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder
  Xenia Latypova, Marie Vincent, Alice Molle, Oluwadamilare A. Adebambo, Cynthia Fourgeux, Tahir N. Khan, Alfonso Caro, Mónica Roselló, Carmen Orellana, Dmitriy Niyazov,...> ;American Journal of Human Genetics. 2021 May 6
• 17 citations
  Abnormal Bone Collagen Cross-Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous PLOD2 Mutations.
  Charlotte Gistelinck, MaryAnn Weis, Jyoti Rai, Ulrike Schwarze, Dmitriy Niyazov, Kit M Song, Peter H. Byers, David R. Eyre> ;JBMR Plus. 2021 Mar 1
• 13 citations
  Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
  Najim Lahrouchi, Alex V. Postma, Christian M. Salazar, Daniel M. de Laughter, Fleur V.Y. Tjong, Lenka Piherová, Forrest Z. Bowling, Dominic S Zimmerman, Elisabeth M. L...> ;The Journal of Clinical Investigation. 2021 Mar 1
• 5 citations
  Novel NUDT2 variant causes intellectual disability and polyneuropathy.
  Frank Diaz, Shaweta Khosa, Dmitriy Niyazov, Hane Lee, Richard E. Person, Michelle M. Morrow, Rebecca Signer, Naghmeh Dorrani, Allison Zheng, Matthew R. Herzog, Robert ...> ;Annals of Clinical and Translational Neurology. 2020 Oct 15
• 22 citations
  Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations
  Megan E. Rech, John M. McCarthy, Chun-An Chen, Jane C. Edmond, Veeral Shah, Daniëlle G. M. Bosch, Gerard T. Berry, Linford Williams, Suneeta Madan-Khetarpal, Dmitriy N...> ;American Journal of Medical Genetics. Part A. 2020 Apr 10
• 3 citations
  De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
  Ilana Chilton, Volkan Okur, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Alice Goldenberg, Thomas Husson, Dominique Campion, Klaske D. Lichtenbelt, Koen L.I....> ;American Journal of Medical Genetics. Part A. 2020 Feb 7
• 16 citations
  Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.
  Renee Bend, Lior Cohen, Melissa T. Carter, Michael J. Lyons, Dmitriy Niyazov, Mohamad A. Mikati, Samantha K Rojas, Richard E. Person, Yue Si, Ingrid M. Wentzensen, Eri...> ;European Journal of Human Genetics. 2020 Jan 1
• Erratum: Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size (Brain (2019) 142: 2617-2630) DOI: 10.1093/brain/awz198
  Diana Le Duc, Cecilia R Giulivi, Susan M. Hiatt, Eleonora Napoli, Alexios A Panoutsopoulos, Angelo Harlan De Crescenzo, Urania Kotzaeridou, Steffen Syrbe, Evdokia Anag...> ;Brain. 2019 Nov 1
• 8 citations
  Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder
  Volkan Okur, Katrin Watschinger, Dmitriy Niyazov, Julie McCarrier, Donald Basel, Martin Hermann, Ernst R. Werner, Wendy K. Chung> ;Human Genetics. 2019 Sep 25
• 28 citations
  Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size
  Diana Le Duc, Cecilia R Giulivi, Susan M. Hiatt, Eleonora Napoli, Alexios A Panoutsopoulos, Angelo Harlan De Crescenzo, Urania Kotzaeridou, Steffen Syrbe, Evdokia Anag...> ;Brain. 2019 Sep 1
• 3 citations
  Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
  Jennifer N. Dines, Katie Golden-Grant, Amy Lacroix, Alison M. Muir, Dianne Laboy Cintrón, Kirsty McWalter, Megan T. Cho, Angela Sun, J. Lawrence Merritt, Jenny Thies, ...> ;Genetics in Medicine. 2019 Aug 1
• 39 citations
  TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
  Jennifer N. Dines, Katie Golden-Grant, Amy Lacroix, Alison M. Muir, Dianne Laboy Cintrón, Kirsty McWalter, Megan T. Cho, Angela Sun, J. Lawrence Merritt, Jenny Thies, ...> ;Genetics in Medicine. 2019 Mar 1
• 118 citations
  Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder.
  Shannon Rose, Dmitriy Niyazov, Daniel A. Rossignol, Michael J. Goldenthal, Stephen G. Kahler, Richard E. Frye> ;Molecular Diagnosis & Therapy. 2018 Oct 1
• 26 citations
  An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-ons...
  Zoheb B. Kazi, Ankit K. Desai, R. Bradley Troxler, David Kronn, Seymour Packman, Marta Sabbadini, William B. Rizzo, Katalin Scherer, Omar A. Abdul-Rahman, Pranoot Tanp...> ;Genetics in Medicine. 2019 Apr 1
• 11 citations
  Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.
  Joshua J. Todd, Muslima S Razaqyar, Jessica W Witherspoon, Tokunbor A. Lawal, Ami Mankodi, Irene C Chrismer, Carolyn Allen, Mary D Meyer, Anna Kuo, Monique Shelton, Ki...> ;Frontiers in Neurology. 2018 Mar 5
• 3 citations
  Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease.
  Dmitriy Niyazov, Diego A. Lara> ;Ochsner Journal. 2018 Jan 1
• 37 citations
  Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
  Genay Pilarowski, Hilary J. Vernon, Carolyn D. Applegate, Leandros Boukas, Megan T. Cho, Christina A. Gurnett, Paul J. Benke, Erin Beaver, Jennifer M. Heeley, Livija M...> ;Journal of Medical Genetics. 2018 Aug 1
• 9 citations
  CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
  Chun-An Chen, Daniëlle G M Bosch, Megan T Cho ScM, Jill A Rosenfeld, Marwan Shinawi, Richard Alan Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence Walsh, Timot...> ;Genetics in Medicine. 2017 Aug 1
• 14 citations
  The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
  Chun-An Chen, Daniëlle G M Bosch, Megan T Cho, Jill A Rosenfeld, Marwan Shinawi, Richard Alan Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence Walsh, Timothy M...> ;Genetics in Medicine. 2016 Nov 1
• 38 citations
  Solid organ transplantation in primary mitochondrial disease: Proceed with caution.
  Sumit Parikh, Amel Karaa, Amy Goldstein, Yi Shiau Ng, Grainne S. Gorman, Annette Feigenbaum, John Christodoulou, Richard Haas, Mark A. Tarnopolsky, Bruce K. Cohen, Dav...> ;Molecular Genetics and Metabolism. 2016 Jul 1
• 139 citations
  Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment.
  Dmitriy Niyazov, Stephan G. Kahler, Richard E. Frye> ;Molecular Syndromology. 2016 Jun 3
• 41 citations
  De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features
  Volkan Okur, Megan T. Cho, Lindsay B. Henderson, Kyle Retterer, Michael C. Schneider, Shannon Sattler, Dmitriy Niyazov, Meron Azage, Sharon R. Smith, Jonathan Picker, ...> ;Human Genetics. 2016 Apr 5
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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
• 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
• 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
• Mitochondrial Defects and Iron Deficiency State.
  Niyazov D, Lousiana State University Research Night, New Orleans, LA, 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
• 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
• 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 
• WES in a week: Rapid exome testing for critical care. 
  Tampa, FL - 1/1/2016
• Genetic Testing in 2016: Overview & Clinical Applications. 
  Ochsner Westbank, New Orleans, LA - 1/1/2016
• Genetic Testing in Cardiology: Clinical Utility and Accessibility. 
  Baton Rouge, LA - 1/1/2016
• Genetic Testing for Hereditary Cancer. 
  Baton Rouge, LA - 1/1/2016
• Genetic Aspects of Hypophosphatasia. 
  Washington, DC - 1/1/2016
• 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
• Interpretation of mitochondrial genetics and the emerging role of genetics in diagnosis and treatment. 
  Atlanta, GA - 1/1/2015
• Missense Mutations in MAF Cause Fine-Lubinsky syndrome. 
  Madison, WI - 1/1/2014
• Autism and Mitochondrial Disease. 
  New Orleans, LA - 1/1/2014
• Genetics of Mitochondria and Autism. 
  Creative Learning Center, New Orleans, LA - 1/1/2014
• Primary and Secondary Mitochondrial Disease. 
  Greensboro, NC - 1/1/2014
• Mitochondrial Disease and Autism. 
  Pensacola, FL - 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
• Dysmorphic Newborn: Differentiation between Syndrome, Deformation, Sequence and Association. 
  New Orleans, LA - 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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