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Article
Genome-wide detection of tandem DNA repeats that are expanded in autism
Tandem DNA repeats vary in the size and sequence of each unit (motif). When expanded, these tandem DNA repeats have been associated with more than 40 monogenic disorders1. Their involvement in disorders with comp...
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Article
Open AccessNail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report
Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B) have been associated with focal segmental glomerulosclerosis (FSGS) without the extra-renal or ultrastructural manifestations of Nail-patell...
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Article
Open AccessLoss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGD...
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Open AccessCorrection to: Recommendations for performance optimizations when using GATK3.8 and GATK4
Following publication of the original article [1], the author explained that Table 2 is displayed incorrectly. The correct Table 2 is given below. The original article has been corrected.
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Article
Open AccessRecommendations for performance optimizations when using GATK3.8 and GATK4
Use of the Genome Analysis Toolkit (GATK) continues to be the standard practice in genomic variant calling in both research and the clinic. Recently the toolkit has been rapidly evolving. Significant computati...
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Article
Open AccessAMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional ed...
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Article
Open AccessMolecular modeling of LDLR aids interpretation of genomic variants
Genetic variants in low-density lipoprotein receptor (LDLR) are known to cause familial hypercholesterolemia (FH), occurring in up to 1 in 200 people (Youngblom E. et al. 1993 and Nordestgaard BG et al. 34:347...
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Article
Open AccessGFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease
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Article
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies
We report a female infant identified by newborn screening for severe combined immunodeficiencies (NBS SCID) with T cell lymphopenia (TCL). The patient had persistently elevated alpha-fetoprotein (AFP) with IgA...
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Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features
We report an 8-month-old infant with decreased consciousness after a febrile episode and reduced oral intake. He was profoundly acidotic but his lactate was normal. Serum triglycerides were markedly elevated a...
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Article
Open AccessLate onset asymptomatic pancreatic neuroendocrine tumor – A case report on the phenotypic expansion for MEN1
Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome associated with several endocrine as well as non-endocrine tumors and is caused by mutations in the MEN1 gene. Primary hyperparathyroidis...
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Article
Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
Huda Zoghbi and colleagues report that loss of the ATXN1–CIC protein complex in the develo** mouse forebrain results in hyperactivity and defects in learning and memory. Loss of Cic in specific brain regions ca...
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Article
Forward Genetic Screening Using Behavioral Tests in Zebrafish: A Proof of Concept Analysis of Mutants
The zebrafish enjoys several advantages over other model organisms. It is small, easy to maintain, prolific, and numerous genetic tools are available for it. For example, forward genetic screens have allowed i...
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Article
Open AccessA novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics
Cervical dystonias have a variable presentation and underlying etiology, but collectively represent the most common form of focal dystonia. There are a number of known genetic forms of dystonia (DYT1-27); howe...
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Article
Open AccessImpact of RNA degradation on fusion detection by RNA-seq
RNA-seq is a well-established method for studying the transcriptome. Popular methods for library preparation in RNA-seq such as Illumina TruSeq® RNA v2 kit use a poly-A pulldown strategy. Such methods can caus...
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Article
Open AccessProceedings of the 15th Annual UT-KBRIN Bioinformatics Summit 2016
I1 Proceedings of the Fifteenth Annual UT- KBRIN Bioinformatics Summit 2016
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Article
Zebrafish: a model for the study of addiction genetics
Drug abuse and dependence are multifaceted disorders with complex genetic underpinnings. Identifying specific genetic correlates is challenging and may be more readily accomplished by defining endophenotypes s...
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Zebrafish and Drug Development: A Behavioral Assay System for Probing Nicotine Function in Larval Zebrafish
The attributes of the zebrafish (Danio rerio) make it an excellent model system for the development and discovery of new drugs. A robust behavioral assay is described that has been used successfully in studies of...
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Article
Open AccessNovel Molecular Targets of Azadirachta indica Associated with Inhibition of Tumor Growth in Prostate Cancer
Advanced prostate cancer has significant long-term morbidity, and there is a growing interest in alternative and complimentary forms of therapy that will improve the outcomes of patients. Azadirachta indica (comm...
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Open Access3' tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer
Massive parallel sequencing has the potential to replace microarrays as the method for transcriptome profiling. Currently there are two protocols: full-length RNA sequencing (RNA-SEQ) and 3'-tag digital gene e...
