Publications by authors named "Michelle Thompson"

Article Synopsis
  • Long-read genome sequencing (lrGS) offers more accurate and comprehensive variant detection for rare diseases compared to short-read genome sequencing (srGS), though its exact impact on diagnostic yield remains unclear.
  • In a study involving 96 individuals suspected of having genetic rare diseases, lrGS identified new or potentially relevant genetic variants in 16.7% of participants, with 9.4% possessing pathogenic or likely pathogenic variants.
  • While lrGS provided additional insights beyond what was captured by srGS, particularly with structural variations, the study suggests that growing lrGS datasets will further enhance diagnostic capabilities in the future.
View Article and Find Full Text PDF

Members of the leucine rich repeat (LRR) and PDZ domain (LAP) protein family are essential for animal development and histogenesis. Densin-180, encoded by LRRC7, is the only LAP protein selectively expressed in neurons. Densin-180 is a postsynaptic scaffold at glutamatergic synapses, linking cytoskeletal elements with signalling proteins such as the α-subunit of Ca/calmodulin-dependent protein kinase II.

View Article and Find Full Text PDF

There is interest in studying microbes that colonize maize silks (style tissue, critical for reproduction) including the fungal pathogen Fusarium graminearum (Fg) and its interactions with the microbiome and biocontrol agents. In planta imaging of these interactions on living silks using confocal fluorescence microscopy would provide key insights. However, newly discovered microbes have unknown effects on human health, and there are regulatory requirements to prevent the release of fluorescently tagged microbes into the environment.

View Article and Find Full Text PDF

Within flowers, the style channel receives pollen and transmits male gametes inside elongating pollen tubes to ovules. The styles of maize/corn are called silks. Fertilization-stage silks possess complex microbiomes, which may partially derive from pollen.

View Article and Find Full Text PDF
Article Synopsis
  • Long-read genome sequencing (lrGS) outperforms short-read genome sequencing (srGS) in detecting genetic variants associated with rare diseases.
  • In a study of 96 probands who tested negative with srGS, lrGS identified new disease-relevant variants in 16.7% of cases, with 8.33% containing pathogenic or likely pathogenic variants.
  • lrGS revealed unique variants not detectable by srGS, highlighting that while reanalyzing previous data can improve diagnostic yield, lrGS provides significant additional insights into rare genetic conditions.
View Article and Find Full Text PDF

Constructive play is a creative process-oriented activity that promotes children's engaged learning through building and designing with materials. This study investigated a parent-implemented intervention to promote active engagement in constructive play for preschool-aged children at risk for developmental delay. This study utilized a single-subject multiple-baseline across-participants design with four participants.

View Article and Find Full Text PDF

Genetic testing with exome sequencing and genome sequencing is increasingly offered to infants and children with cardiovascular diseases. However, the rates of positive diagnoses after genetic testing within the different categories of cardiac disease and phenotypic subtypes of congenital heart disease (CHD) have been little studied. We report the diagnostic yield after next-generation sequencing in 500 patients with CHD from diverse population subgroups that were enrolled at three different sites in the Clinical Sequencing Evidence-Generating Research consortium.

View Article and Find Full Text PDF
Article Synopsis
  • The DIP2 gene, first found in fruit flies, is crucial for neuron branching and regeneration, with vertebrate versions (DIP2A, DIP2B, and DIP2C) being highly conserved in the central nervous system.
  • Research showed that mutations in DIP2C are linked to developmental delays in expressive language and speech articulation in 23 affected individuals.
  • Alongside developmental issues, some individuals with DIP2C variants also presented with various cardiac defects and minor facial anomalies, highlighting a connection between the gene's loss-of-function and neurocognitive and physical phenotypes.
View Article and Find Full Text PDF

Purpose/objectives: The study aimed to assess the applicability of digital intraoral scanning in dental hygiene education and compare the quality, efficiency, and ease of use to conventional impression techniques.

Methods: Twenty-eight first-year dental hygiene students (DH1) at UTHealth Houston School of Dentistry (UTSD) participated in this 2022 study. Each student participated in two 4-h lab sessions.

View Article and Find Full Text PDF

Domestic sheep can carry the bacterium in their upper respiratory tract, often with little effect on health and productivity. However, for bighorn sheep populations, there is a link between infection and pneumonia, poor lamb recruitment, and high fatality rate. Because of these outcomes, preventing transmission of to free-ranging wild sheep has garnered interest from both the livestock and wildlife sectors.

View Article and Find Full Text PDF

Styles transmit pollen-derived sperm nuclei from pollen to ovules, but also transmit environmental pathogens. The microbiomes of styles are likely important for reproduction/disease, yet few studies exist. Whether style microbiome compositions are spatially responsive to pathogens is unknown.

View Article and Find Full Text PDF

Background: Buprenorphine is effective for the treatment of opioid use disorder and chronic pain, has a safer pharmacological profile than full mu-opioid agonists, and can now be prescribed by any US provider with a Drug Enforcement Administration license. This study aimed to examine a decade of buprenorphine prescribing patterns in the United States.

Methods: We abstracted opioid and buprenorphine prescribing patterns, including patient characteristics, from the 2010-2019 National Ambulatory Medical Care Survey, a national probability sample of non-federal, ambulatory encounters.

View Article and Find Full Text PDF
Article Synopsis
  • - The study explores pre-mRNA splicing, its critical role in neurodevelopment, and how mutations in spliceosome-related genes U2AF2 and PRPF19 contribute to neurodevelopmental disorders (NDDs).
  • - Researchers found multiple pathogenic variants in U2AF2 and PRPF19 across unrelated individuals, with functional analysis showing that specific U2AF2 variants disrupted normal splicing and neuritogenesis in human neurons.
  • - Additionally, investigations in Drosophila models revealed that the loss of function in U2AF2 and PRPF19 caused severe developmental defects and social issues, pointing to a genetic network wherein splicing factors like Rbfox1 play a significant role in brain development and function. *
View Article and Find Full Text PDF

Group B (GBS), also known as , is a common member of the microbial flora in healthy individuals. However, problems may arise when GBS-colonized mothers become pregnant. GBS may be transferred from a colonized mother to her newborn or developing fetus, which may result in complications such as miscarriage, pre-term birth, meningitis, pneumonia, or sepsis.

View Article and Find Full Text PDF

Emerging data suggests that COVID-19 is associated with fatigue well beyond the acute illness period. The present analysis aimed to: (1) characterize the prevalence and incidence of high fatigue at baseline and follow-up; (2) examine the impact of COVID-19 diagnosis on fatigue level following acute illness; and (3) examine the impact of acute COVID-19 symptom severity and duration on fatigue at follow-up. Subjects ( = 1417; 81.

View Article and Find Full Text PDF
Article Synopsis
  • - Parents of newborns in the NICU found genome sequencing (GS) valuable for decision-making about future care and resolving diagnostic uncertainties.
  • - Most parents accepted the timing of receiving GS results, though they noted the NICU environment could be overwhelming during the process.
  • - Parents indicated that GS did not negatively affect their bonding with their infants and had mixed feelings about guilt related to the results.
View Article and Find Full Text PDF
Article Synopsis
  • Genetic variants in the EZH1 chromatin modifier are linked to both dominant and recessive neurodevelopmental disorders in 19 individuals, highlighting its role in disease etiology.
  • EZH1 impacts histone modification and is essential for the differentiation of neural progenitor cells, with recessive variants causing loss of function and dominant variants resulting in gain of function due to mutations.
  • The findings underscore EZH1's crucial role in neurogenesis and offer a molecular basis for diagnosing certain neurodevelopmental disorders that were previously unclassified.
View Article and Find Full Text PDF
Article Synopsis
  • The study aims to describe the phenotypic and genotypic spectrum of a neurodevelopmental disorder linked to a specific gene implicated in periventricular nodular heterotopia (PVNH).
  • Researchers examined 17 individuals with variants, identifying several types of genetic mutations and their effects on brain structure and function.
  • Findings highlighted a range of symptoms, including intellectual disability, seizures, microcephaly, and various neurological and sensory defects, confirming the gene's role in this autosomal dominant syndrome characterized by abnormal neuronal migration.
View Article and Find Full Text PDF
Article Synopsis
  • Neurodevelopmental disorders (NDDs) are often linked to rare genetic variations, yet standard genomic testing misses many clinically relevant variants, prompting the need for alternative analyses like examining "poison exons" (PEs).
  • The study involved curating RNA sequencing data to identify 1937 conserved PE regions relevant to NDDs and analyzing genetic variants across 2999 patients.
  • The researchers discovered six novel relevant variants, mostly in genes associated with epilepsy, demonstrating that including PE analysis can enhance diagnostic yields for NDDs with minimal additional effort.
View Article and Find Full Text PDF

Purpose: The study aimed to clinically and molecularly characterize the neurodevelopmental disorder associated with heterozygous de novo variants in CNOT9.

Methods: Individuals were clinically examined. Variants were identified using exome or genome sequencing.

View Article and Find Full Text PDF

Animal tolerance towards humans can be a key factor facilitating wildlife-human coexistence, yet traits predicting its direction and magnitude across tropical animals are poorly known. Using 10,249 observations for 842 bird species inhabiting open tropical ecosystems in Africa, South America, and Australia, we find that avian tolerance towards humans was lower (i.e.

View Article and Find Full Text PDF

Without a protective atmosphere, space-exposed surfaces of airless Solar System bodies gradually experience an alteration in composition, structure and optical properties through a collective process called space weathering. The return of samples from near-Earth asteroid (162173) Ryugu by Hayabusa2 provides the first opportunity for laboratory study of space-weathering signatures on the most abundant type of inner solar system body: a C-type asteroid, composed of materials largely unchanged since the formation of the Solar System. Weathered Ryugu grains show areas of surface amorphization and partial melting of phyllosilicates, in which reduction from Fe to Fe and dehydration developed.

View Article and Find Full Text PDF
Article Synopsis
  • Neurodevelopmental disorders (NDDs) can be linked to rare genetic variations, but standard genomic testing often misses key variants, particularly those in "poison exons" (PEs), which lead to premature termination of protein production.
  • Researchers analyzed RNA sequencing data and identified 1,937 conserved PE regions to assess the impact of specific genetic variants in NDD cohorts.
  • From nearly 3,000 individuals studied, six previously overlooked variants were found in PE regions that could explain certain NDDs, suggesting that including PE analysis could enhance diagnostic accuracy without significantly increasing the testing burden.
View Article and Find Full Text PDF
Article Synopsis
  • The rise of exome and genome sequencing has led to unexpected genetic findings, particularly in pediatric patients, creating challenges for labs and healthcare providers regarding whether to disclose these incidental findings.
  • A study involving 21 pediatric patients identified 23 non-ACMG-recommended incidental findings, revealing variability in how different research sites handle the return of these results.
  • Although sharing incidental findings can provide insights and benefits to patients, it also poses risks and burdens for healthcare providers, highlighting the need for established guidelines across labs.
View Article and Find Full Text PDF

A PHP Error was encountered

Severity: Warning

Message: fopen(/var/lib/php/sessions/ci_sessionmsdmen2fvt4icvb2ip081vp228vdrd65): Failed to open stream: No space left on device

Filename: drivers/Session_files_driver.php

Line Number: 177

Backtrace:

File: /var/www/html/index.php
Line: 316
Function: require_once

A PHP Error was encountered

Severity: Warning

Message: session_start(): Failed to read session data: user (path: /var/lib/php/sessions)

Filename: Session/Session.php

Line Number: 137

Backtrace:

File: /var/www/html/index.php
Line: 316
Function: require_once