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Article
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome
Mutations in the PQBP1 gene (polyglutamine-binding protein-1) are responsible for a syndromic X-linked form of neurodevelopmental disorder (XL-NDD) with intellectual disability (ID), named Renpenning syndrome. PQ...
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Chapter and Conference Paper
Modeling and Assessing the Impacts of Cyber Threats on Interdependent Critical Infrastructures
Critical infrastructures are complex networks with physical, geographical, logical and cyber interdependencies whose disruption can cause serious impacts to citizenry and society. Meanwhile, the use of informa...
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Article
Open AccessOn the characterization of bias errors in defocusing-based 3D particle tracking velocimetry for microfluidics
In this work, we provide a systematic theoretical and experimental characterization of bias errors in defocusing particle tracking (DPT) methods based on a single calibration function, with respect to microflu...
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Article
Open AccessSPUMONI 2: improved classification using a pangenome index of minimizer digests
Genomics analyses use large reference sequence collections, like pangenomes or taxonomic databases. SPUMONI 2 is an efficient tool for sequence classification of both short and long reads. It performs multi-cl...
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Chapter and Conference Paper
Data Structures for SMEM-Finding in the PBWT
The positional Burrows–Wheeler Transform (PBWT) was presented as a means to find set-maximal exact matches (SMEMs) in haplotype data via the computation of the divergence array. Although run-length encoding th...
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Article
New insights in craniovertebral junction MR changes leading to stenosis in children with achondroplasia
To characterize natural history and early changes of craniovertebral junction stenosis in achondroplasia correlating with clinical and radiological outcome.
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Article
Open AccessQualification of the thermal stabilization, polishing and coating procedures for the aluminum telescope mirrors of the ARIEL mission
ARIEL, the Atmospheric Remote-sensing Infrared Exoplanet Large-survey, was selected as the fourth medium-class mission in ESA’s Cosmic Vision program. ARIEL is based on a 1 m class telescope optimized for spe...
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Chapter and Conference Paper
Accessing the Suffix Array via \(\phi ^{-1}\) -Forest
Kärkkainen et al. (CPM, 2009) defined the concept of \(\phi \) ϕ that later...
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Article
Open Access10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
In France, the Ministry of Health has implemented a comprehensive program for rare diseases (RD) that includes an epidemiological program as well as the establishment of expert centers for the clinical care of...
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Article
Open AccessErotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review
Pathogenic variants of the AUTS2 (Autism Susceptibility candidate 2) gene predispose to intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, facial dysmorphism and short st...
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Article
Quantum control of a nanoparticle optically levitated in cryogenic free space
Tests of quantum mechanics on a macroscopic scale require extreme control over mechanical motion and its decoherence1–3. Quantum control of mechanical motion has been achieved by engineering the radiation–pressur...
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Article
Open AccessFast and efficient Rmap assembly using the Bi-labelled de Bruijn graph
Genome wide optical maps are high resolution restriction maps that give a unique numeric representation to a genome. They are produced by assembling hundreds of thousands of single molecule optical maps, which...
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Article
Sensenbrenner syndrome: a further challenge in evaluating sagittal synostosis and a need for a multidisciplinary approach
Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), is a genetically heterogeneous ciliopathy, characterized by dysmorphic features including dolichocephaly (with inconstant sagittal cranio...
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Article
Open AccessGravitational wave detectors with broadband high frequency sensitivity
Gravitational waves from the neutron star coalescence GW170817 were observed from the inspiral, but not the high frequency postmerger nuclear matter motion. Optomechanical white light signal recycling has been...
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Chapter and Conference Paper
r-Indexing the eBWT
The extended Burrows Wheeler Transform ( \(\mathrm {eBWT}\) eBWT ...
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Chapter and Conference Paper
On the Redundancy of D-Ary Fano Codes
We study the redundancy of D-ary Fano source codes. We show that a novel splitting criterion allows to prove a bound on the redundancy of the resulting code which sharpens the guarantee provided by Shannon’s c...
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Chapter and Conference Paper
Computing the Original eBWT Faster, Simpler, and with Less Memory
Mantaci et al. [TCS 2007] defined the \(\mathrm {eBWT}\) eBWT ...
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Article
Open AccessAuthor Correction: Entanglement of propagating optical modes via a mechanical interface
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Open AccessTelemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders
The European Reference Networks, ERNs, are virtual networks for healthcare providers across Europe to collaborate and share expertise on complex or rare diseases and conditions. As part of the ERNs, the Clinic...
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Article
General defocusing particle tracking: fundamentals and uncertainty assessment
General defocusing particle tracking (GDPT) is a single-camera, three-dimensional particle tracking method that determines the particle depth positions from the defocusing patterns of the corresponding particl...
