-
Article
Open AccessResilience to autosomal dominant Alzheimer’s disease in a Reelin-COLBOS heterozygous man
We characterized the world’s second case with ascertained extreme resilience to autosomal dominant Alzheimer’s disease (ADAD). Side-by-side comparisons of this male case and the previously reported female case...
-
Article
Open AccessCombined low-pass whole genome and targeted sequencing in liquid biopsies for pediatric solid tumors
We designed a liquid biopsy (LB) platform employing low-pass whole genome sequencing (LP-WGS) and targeted sequencing of cell-free (cf) DNA from plasma to detect genome-wide copy number alterations (CNAs) and ...
-
Article
Open AccessInter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy
Germline alterations in the RB1 tumor suppressor gene predispose patients to develop retinoblastoma (RB) in both eyes. While similar treatment is given for each eye, there is often a variable therapeutic response...
-
Article
Resistance to autosomal dominant Alzheimer’s disease in an APOE3 Christchurch homozygote: a case report
We identified a PSEN1 (presenilin 1) mutation carrier from the world’s largest autosomal dominant Alzheimer’s disease kindred, who did not develop mild cognitive impairment until her seventies, three decades afte...
-
Article
Open AccessClinical utility of the low-density Infinium QC genoty** Array in a genomics-based diagnostics laboratory
With 15,949 markers, the low-density Infinium QC Array-24 BeadChip enables linkage analysis, HLA haploty**, fingerprinting, ethnicity determination, mitochondrial genome variations, blood groups and pharmaco...
-
Article
Open AccessThe next generation of target capture technologies - large DNA fragment enrichment and sequencing determines regional genomic variation of high complexity
The ability to capture and sequence large contiguous DNA fragments represents a significant advancement towards the comprehensive characterization of complex genomic regions. While emerging sequencing platform...
-
Article
Incontinence medication response relates to the female urinary microbiota
Many adult women have resident urinary bacteria (urinary microbiome/microbiota). In adult women affected by urinary urgency incontinence (UUI), the etiologic and/or therapeutic role of the urinary microbiome/m...
-
Chapter
Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate
-
Chapter
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate
Background: Whole exome sequencing (WES) offers a powerful diagnostic tool to rapidly and efficiently sequence all coding genes in individuals presenting for consideration of phenotypically and gen...
-
Article
NMNAT1 mutations cause Leber congenital amaurosis
Eric Pierce, **aowu Gai and colleagues identify mutations in NMNAT1 as a new cause of Leber congenital amaurosis, an early-onset form of retinal degeneration. NMNAT1 encodes an isoform of nicotinamide mononucleot...
-
Article
Open AccessMitochondrial genome sequence analysis: A custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy
Mitochondrial genome sequence analysis is critical to the diagnostic evaluation of mitochondrial disease. Existing methodologies differ widely in throughput, complexity, cost efficiency, and sensitivity of het...
-
Article
Open AccessCNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics
Recent studies have shown that copy number variations (CNVs) are frequent in higher eukaryotes and associated with a substantial portion of inherited and acquired risk for various human diseases. The increasin...
-
Article
Open AccessSequence mining and transcript profiling to explore cyst nematode parasitism
Cyst nematodes are devastating plant parasites that become sedentary within plant roots and induce the transformation of normal plant cells into elaborate feeding cells with the help of secreted effectors, the...
-
Article
Open AccessDivergent evolution of arrested development in the dauer stage of Caenorhabditis elegans and the infective stage of Heterodera glycines
The soybean cyst nematode Heterodera glycines is the most important parasite in soybean production worldwide. A comprehensive analysis of large-scale gene expression changes throughout the development of plant-pa...
