Francois V. Bolduc's research while affiliated with University of Alberta and other places

... UofA-Truth [48] break down the task into two sub-tasks: text entailment and image entailment. For text entailment, they obtain claim text and document text embeddings by passing the text through sentence BERT [49]. ...

... A variety of approaches have been proposed to leverage knowledge in other domains to help health misinformation detection [60,65,122,125,129,147,148,191,197,231,233,241]. To tackle the data scarcity challenge of Covid fact checking, Liu et al. [129] proposed rationale prediction based and masked language model based continuous training to adapt pre-trained language models to Covid domain. ...

... We illustrate this process for the new disease gene PSMC3 in a demonstration on the GestaltMatcher web service (Extended Data Fig. 6, www.gestaltmatcher.org). Ebstein et al. 41 report 22 patients with a neurodevelopmental disorder of heterogeneous dysmorphism that is caused by de novo missense mutations in PSMC3, which encodes a proteasome 26S subunit. Although not all PSMC3 patients have the same facial phenotype, the proximity of two unrelated patients in the CFPS who share the same de novo PSMC3 mutation is exceptional. ...

... More recently, a growing body of the literature has raised the importance of increased variability in neural signals linked to enhanced cognition, as systems need to be tuned on-line to optimize them for behavioral demands [57][58][59]. Our observations, when taken together with other EEG findings in FXS (e.g., decreased peak alpha frequency, decreased neural synchronization to the auditory chirp, reduction in global alpha power with concomitant increases in regional gamma power, reduced EEG signal complexity), suggest a diminished capacity or increased constraints on the expression of neural variability in the FXS cortex [15,22,[60][61][62][63]. Elevated gamma band connectivity and suppressed alpha band connectivity at rest, as found here in individuals with FXS, could reflect a neural state patients are seemingly "stuck" in, thus resulting in reduced ability to dynamically adjust neural responses to environmental demands, especially those requiring higher cognitive skills. ...

... Autism spectrum disorder (ASD) is a frequent comorbid condition seen in 30 to 43% of males with FXS and 16 to 20% of females with FXS [13]. FXS is the most common known single-gene cause of ASD [14][15][16][17]. ...

... Indeed, in a zebrafish model, Badrock et al. demonstrate U8-3 null mutations are embryologically lethal [9] . However, Crow et al. were unable to identify any specific genotype-phenotype relationship to explain symptom variability, including age of onset, implying additive and environmental factors likely play a role in phenotypic expression as well [10] . As ribosomes are central to translation, a process central to protein production to cells throughout the body, a ribosomopathy should be expected to exert ubiquitous deleterious effects; however, the only demonstrated pathology in LCC is cerebral microangiopathy [3] . ...

... Recent studies indicate that 4-hydroxymandelate (4-HMA), an intermediate involved in CoQ 10 biosynthesis, is a product of HPDL [6]. In 2020, Husain et al. described clinical and brain MRI findings in 17 individuals with biallelic HPDL variants (OMIM #619026) [60]. Clinical features in these patients reached from developmental delay, seizures and microcephaly to non-neurological manifestations. ...

... ASD-associated proteins such as FMR1 (Jansen et al., 2017), pogo transposable element derived with ZNF domain (POGZ; Zhao et al., 2019), TSC complex subunit 1 (TSC1)/TSC complex subunit 2 (TSC2; Martin et al., 2020), and phosphatase and tensin homolog (PTEN; Grencewicz et al., 2021), are all involved in the regulation of protein synthesis. Additional risk genes for ASD include dual specificity tyrosine phosphorylation-regulated kinase 1A (Dyrk1a) (Earl et al., 2017), kinesin family member 1 (Kif1) trafficking protein particle complex subunit 9 (Trappc9) (Cogne et al., 2019). Since the etiology for a substantial portion of ASD remains unknown, these genes may only represent the tip of the "heritable ASD" iceberg. ...

... We also show that the observed differences in locomotion after lights-off stimuli between fragile X and control flies cannot be accounted for by deficits in baseline locomotion, as the measured activity and speed before stimulation was comparable or higher to the control lines. Previous studies already reported deficits in odorant sensory responses in fragile X flies [23,24]; however, to the best of our knowledge, this is the first description of deficits in visually evoked motor responses for this model. ...

... Some studies have reported that AKT3, HNRNPU, and ZBTB18 are associated with the neurodevelopmental phenotype of the syndrome (Easton et al., 2005;Ballif et al., 2012;Thierry et al., 2012;Speevak et al., 2013). Easton et al. described a study of AKT3 knockout mice (KO) for AKT3 which resulted in a reduction of brain volume and the size of the corpus callosum, which suggested that AKT3 may be a candidate gene for ACC/MIC (Easton et al., 2005;Raun et al., 2017). Hill et al. and Boland et al. reported that the deletion of the 1q43q44 fragment was associated with MIC (microcephaly), ACC (agenesis of the corpus callosum), and SZR (seizures) (Doco-fenzy et al., 2006;Boland et al., 2007). ...