Dmitriy Niyazov

Journal Article Brain Commun · 2025 Biallelic variants in NADH (nicotinamide adenine dinucleotide (NAD) + hydrogen (H))-ubiquinone oxidoreductase 1 alpha subcomplex 13 have been linked to mitochondrial complex I deficiency, nuclear type 28, based on three affected individuals from two famili ... Full text Link to item Cite

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

Journal Article Genet Med · January 2023 PURPOSE: Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyzes the methylation of arginine residues on several protein substrates. Biallelic pathogenic PRMT7 variants have previously been associated with a syndromic ... Full text Link to item Cite

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.

Journal Article Am J Hum Genet · July 1, 2021 EDEM3 encodes a protein that converts Man8GlcNAc2 isomer B to Man7-5GlcNAc2. It is involved in the endoplasmic reticulum-associated degradation pathway, responsible for the recognition of misfolded proteins that will be targeted and translocated to the cyt ... Full text Link to item Cite

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

Journal Article Am J Med Genet A · July 2021 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition caused by pathogenic variants in the SOX18 gene. SOX18 plays a key role in angio- and lymphangiogenesis due to its expression in venous endothelial cells from which the lymphatic s ... Full text Link to item Cite

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

Journal Article Am J Hum Genet · May 6, 2021 Proteins involved in transcriptional regulation harbor a demonstrated enrichment of mutations in neurodevelopmental disorders. The Sin3 (Swi-independent 3)/histone deacetylase (HDAC) complex plays a central role in histone deacetylation and transcriptional ... Full text Link to item Cite

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

Journal Article J Clin Invest · March 1, 2021 Congenital heart disease is the most common type of birth defect, accounting for one-third of all congenital anomalies. Using whole-exome sequencing of 2718 patients with congenital heart disease and a search in GeneMatcher, we identified 30 patients from ... Full text Link to item Cite

Abnormal Bone Collagen Cross-Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous PLOD2 Mutations

Journal Article JBMR Plus · March 1, 2021 Bruck syndrome (BS) is a congenital disorder characterized by joint flexion contractures, skeletal dysplasia, and increased bone fragility, which overlaps clinically with osteogenesis imperfecta (OI). On a genetic level, BS is caused by biallelic mutations ... Full text Cite

Novel NUDT2 variant causes intellectual disability and polyneuropathy.

Journal Article Ann Clin Transl Neurol · November 2020 Exome or genome sequencing was performed to identify the genetic etiology for the clinical presentation of global developmental delay, intellectual disability, and sensorimotor neuropathy with associated distal weakness in two unrelated families. A homozyg ... Full text Link to item Cite

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

Journal Article Am J Med Genet A · June 2020 Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss-of-function variants in NR2F1 and characterized by visual impairment, developmental delay, and intellectual disability. Here we report ... Full text Link to item Cite

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

Journal Article Am J Med Genet A · May 2020 CDC42BPB encodes MRCKβ (myotonic dystrophy-related Cdc42-binding kinase beta), a serine/threonine protein kinase, and a downstream effector of CDC42, which has recently been associated with Takenouchi-Kosaki syndrome, an autosomal dominant neurodevelopment ... Full text Link to item Cite

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.

Journal Article Eur J Hum Genet · January 2020 PTPN23 is a His-domain protein-tyrosine phosphatase implicated in ciliogenesis, the endosomal sorting complex required for transport (ESCRT) pathway, and RNA splicing. Until recently, no defined human phenotype had been associated with alterations in this ... Full text Link to item Cite

Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.

Journal Article Hum Genet · December 2019 Alkylglycerol monooxygenase (AGMO) is the only enzyme known to cleave the O-alkyl bonds of ether lipids (alkylglycerols) which are essential components of cell membranes. A homozygous frameshift variant [p.(Glu324LysfsTer12)] in AGMO has recently been repo ... Full text Link to item Cite

Erratum: Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size (Brain (2019) 142: 2617-2630) DOI: 10.1093/brain/awz198

Journal Article Brain · November 1, 2019 In the original version of this article, authors Jill L. Silverman and Stephen W. Scherer were listed with incorrect affiliations; this has now been corrected. ... Full text Cite

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

Journal Article Brain · September 1, 2019 The underpinnings of mild to moderate neurodevelopmental delay remain elusive, often leading to late diagnosis and interventions. Here, we present data on exome and genome sequencing as well as array analysis of 13 individuals that point to pathogenic, het ... Full text Link to item Cite

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

Journal Article Genet Med · August 2019 The original version of this Article contained an error in the spelling of the author J. Lawrence Merritt, which was incorrectly given as Lawrence Merritt. This has now been corrected in both the PDF and HTML versions of the Article. ... Full text Link to item Cite

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.

Journal Article Genet Med · April 2019 PURPOSE: To investigate immune tolerance induction with transient low-dose methotrexate (TLD-MTX) initiated with recombinant human acid α-glucosidase (rhGAA), in treatment-naïve cross-reactive immunologic material (CRIM)-positive infantile-onset Pompe dise ... Full text Link to item Cite

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

Journal Article Genet Med · March 2019 PURPOSE: TANGO2-related disorders were first described in 2016 and prior to this publication, only 15 individuals with TANGO2-related disorder were described in the literature. Primary features include metabolic crisis with rhabdomyolysis, encephalopathy, ... Full text Link to item Cite

Improvement in cardiac function with enzyme replacement therapy in a patient with infantile-onset pompe disease

Journal Article Ochsner Journal · December 1, 2018 Background: Pompe disease is a lysosomal storage disorder that results from an inborn error of metabolism involving abnormal glycogen storage. Infantile-onset Pompe disease is the most severe phenotype, and enzyme replacement therapy with alglucosidase alf ... Full text Cite

Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder.

Journal Article Mol Diagn Ther · October 2018 Autism spectrum disorder (ASD) affects ~ 2% of children in the United States. The etiology of ASD likely involves environmental factors triggering physiological abnormalities in genetically sensitive individuals. One of these major physiological abnormalit ... Full text Link to item Cite

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.

Journal Article J Med Genet · August 2018 BACKGROUND: The list of Mendelian disorders of the epigenetic machinery has expanded rapidly during the last 5 years. A few missense variants in the chromatin remodeler CHD1 have been found in several large-scale sequencing efforts focused on uncovering th ... Full text Link to item Cite

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)

Journal Article Neurology: Genetics · August 1, 2018 Objective To address the relationship between mutations in the DNA strand break repair protein tyrosyl DNA phosphodiesterase 2 (TDP2) and spinocerebellar ataxia autosomal recessive 23 (SCAR23) and to characterize the cellular phenotype of primary fibroblas ... Full text Cite

Novel variants in individuals with RYR1-related congenital myopathies: Genetic, laboratory, and clinical findings

Journal Article Frontiers in Neurology · March 5, 2018 The ryanodine receptor 1-related congenital myopathies (RYR1-RM) comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint contract ... Full text Cite

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Journal Article Genet Med · November 2016 PURPOSE: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal-dominant disorder characterized by optic atrophy and intellectual disability caused by loss-of-function mutations in NR2F1. We report 20 new individuals with BBSOAS, exploring t ... Full text Link to item Cite

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.

Journal Article Hum Genet · July 2016 Whole exome sequencing (WES) can be used to efficiently identify de novo genetic variants associated with genetically heterogeneous conditions including intellectual disabilities. We have performed WES for 4102 (1847 female; 2255 male) intellectual disabil ... Full text Link to item Cite

Solid organ transplantation in primary mitochondrial disease: Proceed with caution.

Journal Article Mol Genet Metab · July 2016 Solid organ transplants are rarely performed in both adult and pediatric patients with primary mitochondrial disease. Poor outcomes have been described in case reports and small case series. It is unclear whether the underlying genetic disease has a signif ... Full text Link to item Cite

Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment

Journal Article Molecular Syndromology · July 1, 2016 Mitochondrial disease refers to a heterogeneous group of disorders resulting in defective cellular energy production due to abnormal oxidative phosphorylation (oxphos). Primary mitochondrial disease (PMD) is diagnosed clinically and ideally, but not always ... Full text Cite

Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency

Journal Article Molecular Syndromology · October 1, 2015 Unbalanced chromosomal rearrangements typically cause multiple organ system involvement including neurodevelopmental deficits. It is atypical, however, to experience developmental and neurological regression. We describe a female with intellectual disabili ... Full text Cite

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.

Journal Article Am J Hum Genet · September 3, 2015 Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing loss, cortical visual impairment, and rare autosomal-rec ... Full text Link to item Cite

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.

Journal Article Am J Hum Genet · May 7, 2015 Transcription factors operate in developmental processes to mediate inductive events and cell competence, and perturbation of their function or regulation can dramatically affect morphogenesis, organogenesis, and growth. We report that a narrow spectrum of ... Full text Link to item Cite

Corrigendum: A copy number variation morbidity map of developmental delay.

Journal Article Nat Genet · August 27, 2014 Full text Link to item Cite

Assessing low-frequency repetitive transcranial magnetic stimulation with functional magnetic resonance imaging: a case series.

Journal Article Physiother Res Int · June 2014 BACKGROUND AND PURPOSE: This case series assesses the effects of five consecutive days of low-frequency (1 Hz) repetitive transcranial magnetic stimulation (rTMS) with and without a 6-Hz primer. Although this paper studies able-bodied individuals, similar ... Full text Link to item Cite

Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.

Journal Article Mitochondrion · January 2014 Mitochondrial medicine is a young subspecialty. Clinicians have a limited evidence base on which to formulate clinical decisions regarding diagnosis, treatment and patient management. Mitochondrial medicine specialists have cobbled together an informal set ... Full text Link to item Cite

Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation.

Journal Article Am J Med Genet A · December 2013 Ebstein anomaly is a rare congenital heart defect that most often occurs sporadically within a kindred. Familial cases, although reported, are uncommon. At this time, the genetic etiology of Ebstein anomaly is not fully elucidated. Here, we describe clinic ... Full text Link to item Cite

Investigation of NRXN1 deletions: clinical and molecular characterization.

Journal Article Am J Med Genet A · April 2013 Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dysmorphic features. We have identified 34 probands with ex ... Full text Link to item Cite

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

Journal Article New England Journal of Medicine · October 4, 2012 BACKGROUND: Some copy-number variants are associated with genomic disorders with extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents challenges in genetic diagnosis, counseling, and management. METHODS: We analyzed the ... Full text Cite

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

Journal Article Hum Genet · January 2012 Microdeletions of 1q43q44 result in a recognizable clinical disorder characterized by moderate to severe intellectual disability (ID) with limited or no expressive speech, characteristic facial features, hand and foot anomalies, microcephaly (MIC), abnorma ... Full text Link to item Cite

A copy number variation morbidity map of developmental delay.

Journal Article Nat Genet · August 14, 2011 To understand the genetic heterogeneity underlying developmental delay, we compared copy number variants (CNVs) in 15,767 children with intellectual disability and various congenital defects (cases) to CNVs in 8,329 unaffected adult controls. We estimate t ... Full text Link to item Cite

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.

Journal Article Am J Med Genet A · June 2011 Reports of individuals with deletions of 1q24→q25 share common features of prenatal onset growth deficiency, microcephaly, small hands and feet, dysmorphic face and severe cognitive deficits. We report nine individuals with 1q24q25 deletions, who show dist ... Full text Link to item Cite

Heart transplantation for a patient with Kearns-Sayre syndrome and end-stage heart failure.

Journal Article Congest Heart Fail · 2011 Full text Link to item Cite

A newborn with congenital complete atrioventricular block, lissencephaly, and skeletal abnormalities: a case of suspected cytomegalovirus infection.

Journal Article Congenit Heart Dis · 2010 We present a case of congenital complete atrioventricular block in a preterm microcephalic male with multiple additional congenital anomalies, including spinal and rib abnormalities. The heart was structurally normal, and maternal tests for autoimmune diso ... Full text Link to item Cite

An unusual cardiac defect in a patient with clinical features overlapping between cardiofaciocutaneous and Noonan syndromes.

Journal Article Congenit Heart Dis · 2010 It is important to recognize the possibility of a syndromic etiology of cardiac defects when dysmorphic features and other congenital defects are present. We report a patient who presented with atrial fibrillation and was found to have an abnormal mitral v ... Full text Link to item Cite

Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Váradi-Papp): report of a transitional type.

Journal Article Pediatr Radiol · September 2008 The oral-facial-digital syndromes (OFDS) comprise a group of disorders involving malformations of the mouth, face, and digits. There are 13 subtypes of the OFDS, and much overlap exists among OFDS patients. Distinct syndromes such as Joubert and Pallister- ... Full text Link to item Cite

Genotype/phenotype correlations in two patients with 12q subtelomere deletions.

Journal Article Am J Med Genet A · November 15, 2007 Subtelomeric imbalances have been implicated in developmental delay and mental retardation (MR) and described for most chromosomes. This study reports the first detailed description of two individuals with de novo 12q subtelomere deletions and high-resolut ... Full text Link to item Cite

Reductions in interhemispheric motor cortex functional connectivity after muscle fatigue.

Journal Article Brain Res · September 28, 2005 Muscle fatigue has been known to differentially affect the activation level of the primary motor cortices (MIs) of the brain's two hemispheres. Whether this fatigue-related decoupling influence on the motor cortical signals extends beyond the motor action ... Full text Link to item Cite

Changes in interhemispheric motor connectivity after muscle fatigue

Conference Progress in Biomedical Optics and Imaging - Proceedings of SPIE · August 25, 2005 Synchronized oscillations in resting state timecourses have been detected in recent fMRI studies. These oscillations are low frequency in nature (< 0.08 Hz), and seem to be a property of symmetric cortices. These fluctuations are important as a potential s ... Full text Cite

Functional magnetic resonance imaging and transcranial magnetic stimulation: effects of motor imagery, movement and coil orientation.

Journal Article Clin Neurophysiol · July 2005 OBJECTIVE: To compare fMRI activations during movement and motor imagery to corresponding motor evoked potential (MEP) maps obtained with the TMS coil in three different orientations. METHODS: fMRI activations during executed (EM) and imagined (IM) movemen ... Full text Link to item Cite

Diagnosis of endolymphatic hydrops in vivo with magnetic resonance imaging.

Journal Article Otol Neurotol · November 2001 HYPOTHESIS: High-resolution magnetic resonance imaging (MRI) at 1.5 T preferentially enhances the perilymph over endolymph after administration of contrast with gadodiamide, which allows for differentiation of the membranous labyrinth. Furthermore, this im ... Full text Link to item Cite

Fenestration surgery for otosclerosis: CT findings of an old surgical procedure.

Journal Article AJNR Am J Neuroradiol · October 2000 Numerous attempts to deal surgically with otosclerosis were made before the current method of stapedectomy with stapes prosthesis was established. We report a case with unique CT findings of a patient who underwent fenestration surgery for otosclerosis in ... Link to item Cite