Cassandra L. Smith
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View article: Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome Open
Our findings indicate that noncanonical splice variants may account for approximately 3% of families with undiagnosed FTAAD, highlighting the importance of incorporating analysis of introns and confirmatory RNA testing into genetic testing…
View article: Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome Open
Purpose To quantify the impact of non-canonical FBN1 splice site variants in undiagnosed Marfan syndrome (MFS), a connective tissue disorder associated with skeletal abnormalities and Familial Thoracic Aortic Aneurysm Disease (FTAAD). Meth…
View article: Arrays of probes for positional sequencing by hybridization
Arrays of probes for positional sequencing by hybridization Open
This invention is directed to methods and reagents useful for sequencing nucleic acid targets utilizing sequencing by hybridization technology comprising probes, arrays of probes and methods whereby sequence information is obtained rapidly…
View article: Method for replicating an array of nucleic acid probes
Method for replicating an array of nucleic acid probes Open
The invention relates to the replication of probe arrays and methods for replicating arrays of probes which are useful for the large scale manufacture of diagnostic aids used to screen biological samples for specific target sequences. Arra…
View article: DNA purification by triplex-affinity capture and affinity capture electrophoresis
DNA purification by triplex-affinity capture and affinity capture electrophoresis Open
The invention provides a method for purifying or isolating double stranded DNA intact using triple helix formation. The method includes the steps of complexing an oligonucleotide and double stranded DNA to generate a triple helix and immob…
View article: Nucleic Acid Detection Methods
Nucleic Acid Detection Methods Open
The invention relates to methods for rapidly determining the sequence and/or length a target sequence. The target sequence may be a series of known or unknown repeat sequences which are hybridized to an array of probes. The hybridized arra…
View article: Multiflavor streptavidin
Multiflavor streptavidin Open
Compounds and methods are described for producing streptavidin mutants with changed affinities. In particular, modifications to the sequence of the natural streptavidin gene is described to create amino acid substitutions resulting in grea…
View article: Solid phase sequencing of double-stranded nucleic acids
Solid phase sequencing of double-stranded nucleic acids Open
This invention relates to methods for detecting and sequencing of target double-stranded nucleic acid sequences, to nucleic acid probes and arrays of probes useful in these methods, and to kits and systems which contain these probes. Usefu…
View article: Correction to: The Van Allen Probes Electric Field and Waves Instrument: Science Results, Measurements, and Access to Data
Correction to: The Van Allen Probes Electric Field and Waves Instrument: Science Results, Measurements, and Access to Data Open
International audience
View article: A-152 Associations between Cognitive Functioning and Self-Report Mood Measures in a Veteran Clinical Population
A-152 Associations between Cognitive Functioning and Self-Report Mood Measures in a Veteran Clinical Population Open
Objective: To determine the strength of correlation between subjective mood distress and concurrent measures of objective cognitive functioning. Method: 334 veterans (89.6% male; 93.7% White) were seen for neuropsychological evaluation at …
View article: A-133 Assessing Cognitive Performance in Bilingual Children with Refractory Temporal Lobe Epilepsy: A Systematic Review
A-133 Assessing Cognitive Performance in Bilingual Children with Refractory Temporal Lobe Epilepsy: A Systematic Review Open
Objective: The effects of bilingualism on cognitive profiles in children with pre-surgical temporal lobe epilepsy (TLE) have not been well-addressed. The goal of this systematic review was to assess the state of knowledge on cognitive perf…
View article: A-202 Cognitive Predictors of Verbal Memory Test Performance in an Outpatient Clinical Sample
A-202 Cognitive Predictors of Verbal Memory Test Performance in an Outpatient Clinical Sample Open
Objective: Investigate the influence of non-memory cognitive abilities on auditory-verbal memory test performance in a clinical sample. Method: Archival data were analyzed for 129 patients [53.5% female; mean (SD): age = 46.48 (13.95), edu…
View article: Elevated Neuropeptide Y1 Receptor Signaling Contributes to β-cell Dysfunction and Failure in Type 2 Diabetes
Elevated Neuropeptide Y1 Receptor Signaling Contributes to β-cell Dysfunction and Failure in Type 2 Diabetes Open
Loss of functional β-cell mass is a key factor contributing to the poor glycaemic control in type 2 diabetes. However, therapies that directly target these underlying processes remains lacking. Here we demonstrate that gene expression of n…
View article: Field Excavation Report Season 1: 2018 Summer Field School Millard’s Farmstead 41NA416 Permit #8424
Field Excavation Report Season 1: 2018 Summer Field School Millard’s Farmstead 41NA416 Permit #8424 Open
In the summer of 2018 (June 4-July6), SFA Archaeological Field School (ANT440) was lead by Dr. Leslie G. Cecil and Laura Short (adjunct professor at the time) and had 10 students and one volunteer. The site selected was the Millard’s Farms…
View article: Comparative phylogenetic exploration of the human mitochondrial proteome: Insights into disease and metabolism
Comparative phylogenetic exploration of the human mitochondrial proteome: Insights into disease and metabolism Open
Mitochondria are a key organelle within human cells, with functions ranging from ATP synthesis to apoptosis. Changes in mitochondrial function are associated with many diseases, as well as ‘natural’ processes like ageing. Mitochondria have…