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Purpose: To report the clinical and genetic study of two families of Egyptian origin with clinical anophthalmia. To further determine the role of the retina and anterior neural fold homeobox gene (RAX) in anophthalmia and associated cerebral malformations. ...
Cognitive abilities and disorders unique to humans are thought to result from adaptively driven changes in brain transcriptomes, but little is known about the role of cis-regulatory changes affecting transcription start sites (TSS). Here, we mapped in huma ...
This paper proposes a novel strategy for grasping 3D unknown objects in accordance with their corresponding task. We define the handle or the natural grasping component of an object as the part chosen by humans to pick up this object. When humans reach out ...
Exposure to valproic acid (VPA) during embryogenesis can cause several teratogenic effects, including developmental delays and in particular autism in humans if exposure occurs during the third week of gestation. We examined the postnatal effects of embryo ...
Human behaviour plays an important role in the spread of infectious diseases, and understanding the influence of behaviour on the spread of diseases can be key to improving control efforts. While behavioural responses to the spread of a disease have often ...
Information access in meeting recordings can be assisted by meeting browsers, or can be fully automated following a question-answering (QA) approach. An information access task is defined, aiming at discriminating true vs. false parallel statements about f ...
Reductive evolution and massive pseudogene formation have shaped the 3.31-Mb genome of Mycobacterium leprae, an unculturable obligate pathogen that causes leprosy in humans. The complete genome sequence of M. leprae strain Br4923 from Brazil was obtained b ...
Information access in meeting recordings can be assisted by meeting browsers, or can be fully automated following a question-answering (QA) approach. An information access task is defined, aiming at discriminating true vs. false parallel statements about f ...
In recent years, whole genome sequencing (WGS) evolved from a futuristic-sounding research project to an increasingly affordable technology for determining complete genome sequences of complex organisms, including humans. This prompts a wide range of revol ...
We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten "case" genomes from individuals with severe hemophilia A and te ...
