D
Dmitriy Niyazov
Researcher at University of Queensland
Publications - 35
Citations - 3038
Dmitriy Niyazov is an academic researcher from University of Queensland. The author has contributed to research in topics: Microcephaly & Intellectual disability. The author has an hindex of 16, co-authored 34 publications receiving 2470 citations. Previous affiliations of Dmitriy Niyazov include Tulane University & Ochsner Health System.
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Journal ArticleDOI
A copy number variation morbidity map of developmental delay
Gregory M. Cooper,Bradley P. Coe,Santhosh Girirajan,Jill A. Rosenfeld,Tiffany H. Vu,Carl Baker,Charles A. Williams,Heather J. Stalker,Rizwan Hamid,Vickie L. Hannig,Hoda Abdel-Hamid,Patricia I. Bader,Elizabeth McCracken,Dmitriy Niyazov,Kathleen A. Leppig,Heidi Thiese,Marybeth Hummel,Nora Alexander,Jerome L. Gorski,Jennifer Kussmann,Vandana Shashi,Krys Johnson,Catherine Rehder,Blake C. Ballif,Lisa G. Shaffer,Evan E. Eichler +25 more
TL;DR: This evolving CNV morbidity map, combined with exome and genome sequencing, will be critical for deciphering the genetic basis of developmental delay, intellectual disability and autism spectrum disorders.
Journal ArticleDOI
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Santhosh Girirajan,Jill A. Rosenfeld,Bradley P. Coe,Sumit Parikh,Neil R. Friedman,Amy Goldstein,Robyn A. Filipink,Juliann Mcconnell,Brad Angle,Wendy S. Meschino,Marjan M. Nezarati,Alexander Asamoah,Kelly E. Jackson,Gordon C. Gowans,Judith A. Martin,Erin P. Carmany,David W. Stockton,Rhonda E. Schnur,Lynette S. Penney,Donna M. Martin,Salmo Raskin,Kathleen A. Leppig,Heidi Thiese,Rosemarie Smith,Erika Aberg,Dmitriy Niyazov,Luis F. Escobar,Dima El-Khechen,Kisha D. Johnson,Robert Roger Lebel,Kiana Siefkas,Susie Ball,Natasha Shur,Marianne McGuire,Campbell K. Brasington,J. Edward Spence,Laura S. Martin,Carol L. Clericuzio,Blake C. Ballif,Lisa G. Shaffer,Evan E. Eichler +40 more
TL;DR: It is found that syndromic disorders could be distinguished from those with extreme phenotypic heterogeneity on the basis of the total number of copy-number variants and whether the variants are inherited or de novo.
Journal ArticleDOI
Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment.
TL;DR: Differentiation between PMD and SMD has been crucial for diagnosis and treatment and rapid advances in molecular testing, made possible by next generation sequencing, have been effective at least in some cases in establishing accurate diagnoses.
Journal ArticleDOI
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
Akemi J. Tanaka,Megan T. Cho,Francisca Millan,Jane Juusola,Kyle Retterer,Charuta Joshi,Dmitriy Niyazov,Adolfo Garnica,Edward Gratz,Matthew A. Deardorff,Alisha Wilkins,Xilma R. Ortiz-Gonzalez,Katherine D. Mathews,Karin Panzer,Eva H. Brilstra,Koen L.I. van Gassen,Catharina M L Volker-Touw,Ellen van Binsbergen,Nara Sobreira,Ada Hamosh,Dianalee McKnight,Kristin G. Monaghan,Wendy K. Chung +22 more
TL;DR: Using whole-exome sequencing, in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5) are identified.
Journal ArticleDOI
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 +5 more
TL;DR: Preliminary evidence suggests that the mitochondria may be a fruitful target for treatment and prevention of ASD, and several environmental factors, including toxicants, microbiome metabolites and an oxidized microenvironment are shown to modulate mitochondrial function in ASD tissues.