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Front Cover -- Half Title Page -- RIVER PUBLISHERS SERIES IN INFORMATION SCIENCE AND TECHNOLOGY -- Title Page - Certifications of Critical Systems - The CECRIS Experience -- Copyright Page -- Contents -- Preface -- List of Contributors -- List of Figures -- List of Tables -- List of Abbreviations -- Chapter 1 - A Framework to Identify Companies Gaps When Introducing New Standards for Safety-Critical Software -- 1.1 Introduction -- 1.1.1 Contribution -- 1.2 State of the Art on Gap Analysis in the ICT World -- 1.3 Overview of the Framework and Methodology -- 1.3.1 The Framework -- 1.3.1.1 Processes -- 1.3.1.2 Techniques and tools -- 1.3.1.3 Personnel -- 1.3.2 The Methodology to Exercise the Framework -- 1.4 Dataset Structure and Population -- 1.4.1 Dataset Structure -- 1.4.2 Population of the Dataset -- 1.5 Metrics for Gap Analysis -- 1.5.1 Qualitative Indications -- 1.5.2 Quantitative Indication -- 1.5.3 Driving Conclusions -- 1.6 Case Study and Gap Analysis for DO-178B -- 1.6.1 Matching of DO-178B Techniques and Company's Techniques -- 1.6.2 Acquire Data from Personnel -- 1.6.3 Analyze the Data: Techniques -- 1.6.4 Analyze the Data: Tools -- 1.6.5 Conclusive Recommendations and Feedbacks -- 1.7 Discussion about the Gap Analysis Framework -- 1.7.1 An Application to the Moving Process -- 1.7.2 Time and Cost -- 1.7.3 Effectiveness and Reactions -- 1.7.4 Replacement Techniques -- 1.7.5 Different Approaches to Compliance -- 1.7.6 Questionnaire Assessment and Bias -- 1.8 Conclusions -- References -- Chapter 2 - Experiencing Model-Driven Engineering for Railway Interlocking Systems -- 2.1 Introduction -- 2.2 Background: MDE -- 2.2.1 MDA Viewpoints and Views -- 2.3 The Maturity of MDE -- 2.4 A Model-Driven Methodology for Prolan -- 2.4.1 Experimentation within A Pilot Project -- 2.4.2 System Requirements Specification -- 2.4.3 System Design.

BACKGROUND: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. METHODS AND RESULTS: Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2 to 52 years. The facial phenotype and expressive language impairments were defining features within the group. Height measurements were typically between minus two and minus four standard deviations, with occipitofrontal circumferences usually within the average range. Thirty-three of the subjects (63%) had at least one major anomaly requiring medical intervention. We did not observe any specific phenotype-genotype correlations. CONCLUSIONS: This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols. ; The Government of Canada through Genome Canada, the Canadian Institutes of Health Research (CIHR) and the Ontario Genomics Institute (OGI-049), by Genome Québec and Genome British Columbia, and the Manton Center for Orphan Disease Research at Children's Hospital Boston. KMB is supported by a Clinical Investigatorship Award from the CIHR Institute of Genetics. AD is supported by NIH grant K23HD073351. BBAdV and HGB were financially supported by the AnEUploidy project (LSHG-CT-2006-37627). Canada Steering Committee, which consists of K. Boycott (University of Ottawa), J. Friedman (University of British Columbia), J. Michaud (University of Montreal), F. Bernier (University of Calgary), M. Brudno (University of Toronto), B. Fernandez (Memorial University), B. Knoppers ...