Land Policy for Flood Risk Management-Toward a New Working Paradigm

Flood risk management (FRM) aims to integrate necessary technical measures with environmental and societal approaches. Focusing on the process and governance of how to plan, implement, and maintain solutions therefore becomes essential. Among the different stakeholders, landowners are a key group to be considered. This contribution elaborates on the interconnections between land policy, FRM and private land ownership. It is based on the European COST Action network LAND4FLOOD, which brings together academics and stakeholders from various disciplines and more than 35 countries. We argue for a less project oriented and more process oriented approach, a focus on land management and more emphasis on small-scale measures. This represents a break with some of the recent working paradigms of FRM

Socialist Dandies International: East Europe, 1946-1959

This article maps the looks and lifestyle choices of small groups of young, like-minded people who emerged in the postwar Soviet Union and East Europe in the background of huge political, social, and cultural changes. With their androgynous bodies wrapped in drape jackets and narrow trousers, and their love of jazz and swing, these young men stood in a sharp contrast to the official ideology that promoted socialism as a new, pure, and highly rationalized project, its ideal robust and strong man, and its mass culture that insisted on educational and restrained forms of entertainment. Through the categories of dress, body, and big city, the article investigates the clashes, and the eventual truce, between the socialist streamlined and rationalized master narrative and the young dandies' fragmented and disordered narrative. The article argues that the socialist dandies were not politically minded, and that their challenge to the officially proclaimed values was informed by their adolescent recklessness and a general postwar desolation. They were declared state enemies because the socialist regimes did not allow for alternative types of modernity. Consequently, the authorities condemned the young dandies' looks and interests as cosmopolitan, because they originated in the West, and as artificial, since they belonged to the culture that had preceded a new socialist world

Physical properties of shallow ice cores from Antarctic and sub-Antarctic islands

The sub-Antarctic is one of the most data-sparse regions on earth. A number of glaciated Antarctic and sub-Antarctic islands have the potential to provide unique ice core records of past climate, atmospheric circulation, and sea ice. However, very little is known about the glaciology of these remote islands or their vulnerability to warming atmospheric temperature. Here we present melt histories and density profiles from shallow ice (firn) cores (14 to 24 m) drilled on three sub-Antarctic islands and two Antarctic coastal domes. Additionally, complementary ground-penetrating radar (GPR) data were collected to further characterize each site and assess the spatial distribution of the observed melt layers. This study includes the first ever firn cores from Bouvet Island (54∘25′19′′ S, 03∘23′27′′ E) in the South Atlantic, from Peter I Island (68∘51′05′′ S, 90∘30′35′′ W) in the Bellingshausen Sea, and from Young Island (66∘31′44′′ S, 162∘33′21′′ E) in the Ross Sea sector's Balleny island chain. Despite their sub-Antarctic location, surface melt is low at most sites (melt layers account for ∼ 10 % of total core), with undisturbed ice layers in the upper ∼ 40 m, suggesting minimal impact of meltwater percolation. The exception is Young Island, where melt layers account for 47 % of the firn core. Surface snow densities range from 0.47 to 0.52 kg m−3, with close-off depths ranging from 21 to 51 m. Based on the measured density, we estimate that the bottom ages of a 100 m ice core drilled on Peter 1 Island would reach ∼ 1856 CE and ∼ 1874 CE at Young Island

Organic Compounds in a Sub-Antarctic Ice Core: A Potential Suite of Sea Ice Markers.

Investigation of organic compounds in ice cores can potentially unlock a wealth of new information in these climate archives. We present results from the first ever ice core drilled on sub-Antarctic island Bouvet, representing a climatologically important but understudied region. We analyze a suite of novel and more familiar organic compounds in the ice core, alongside commonly measured ions. Methanesulfonic acid shows a significant, positive correlation to winter sea ice concentration, as does a fatty acid compound, oleic acid. Both may be sourced from spring phytoplankton blooms, which are larger following greater sea ice extent in the preceding winter. Oxalate, formate, and acetate are positively correlated to sea ice concentration in summer, but sources of these require further investigation. This study demonstrates the potential application of organic compounds from the marine biosphere in generating multiproxy sea ice records, which is critical in improving our understanding of past sea ice changes

A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men

The functional contribution of CNV to human biology and disease pathophysiology has undergone limited exploration. Recent observations in humans indicate a tentative link between CNV and weight regulation. Smith-Magenis syndrome (SMS), manifesting obesity and hypercholesterolemia, results from a deletion CNV at 17p11.2, but is sometimes due to haploinsufficiency of a single gene, RAI1. The reciprocal duplication in 17p11.2 causes Potocki-Lupski syndrome (PTLS). We previously constructed mouse strains with a deletion, Df(11)17, or duplication, Dp(11)17, of the mouse genomic interval syntenic to the SMS/PTLS region. We demonstrate that Dp(11)17 is obesity-opposing; it conveys a highly penetrant, strain-independent phenotype of reduced weight, leaner body composition, lower TC/LDL, and increased insulin sensitivity that is not due to alteration in food intake or activity level. When fed with a high-fat diet, Dp(11)17/+ mice display much less weight gain and metabolic change than WT mice, demonstrating that the Dp(11)17 CNV protects against metabolic syndrome. Reciprocally, Df(11)17/+ mice with the deletion CNV have increased weight, higher fat content, decreased HDL, and reduced insulin sensitivity, manifesting a bona fide metabolic syndrome. These observations in the deficiency animal model are supported by human data from 76 SMS subjects. Further, studies on knockout/transgenic mice showed that the metabolic consequences of Dp(11)17 and Df(11)17 CNVs are not only due to dosage alterations of Rai1, the predominant dosage-sensitive gene for SMS and likely also PTLS. Our experiments in chromosome-engineered mouse CNV models for human genomic disorders demonstrate that a CNV can be causative for weight/metabolic phenotypes. Furthermore, we explored the biology underlying the contribution of CNV to the physiology of weight control and energy metabolism. The high penetrance, strain independence, and resistance to dietary influences associated with the CNVs in this study are features distinct from most SNP–associated metabolic traits and further highlight the potential importance of CNV in the etiology of both obesity and MetS as well as in the protection from these traits

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models

The characterization of mice with different number of copies of the same genomic segment shows that structural changes influence the phenotypic outcome independently of gene dosage

"Don't try to teach me, I got nothing to learn": Management students' perceptions of business ethics teaching

[EN] Interest is growing towards including business ethics in university curricula, aiming at improving ethical behaviour of future managers. Extant literature has investigated the impact of ethics education on different ethics-related students' cognitive and/or behavioural outcomes, considering variables related to training programmes and students' demographic aspects. Accordingly, we aim at assessing students' understanding of business ethics issues, by focusing on the differences in students' perceptions depending on gender, age, work experience, and ethics courses taken. Testing our hypotheses on a sample of 307 management students at a Polish university, and controlling for social desirability bias, we obtained mixed and partially surprising results. We found significant differences in students' understanding of business ethics depending on their gender and age (female and older students showed more ethical inclinations), but not depending on having taken ethics courses-actually perceptions of such courses worsened after taking them. Besides, work experience was not a significant variable. Moreover, course exposure intensiveness (i.e., number of ethics courses completed), and time passed since completion of the latest course, did not confirm hypothesized effects on most of the dependent (sub)variables. These findings stimulate further questions and challenges for future research (e.g., around course design and methodology, and social/cultural/contextual issues).Tormo-Carbó, G.; Oltra, V.; Klimkiewicz, K.; Seguí-Mas, E. (2019). "Don't try to teach me, I got nothing to learn": Management students' perceptions of business ethics teaching. Business Ethics: A European Review. 28(4):506-528. https://doi.org/10.1111/beer.12236S506528284Adkins, N., & Radtke, R. R. (2004). Students’ and Faculty Members’ Perceptions of the Importance of Business Ethics and Accounting Ethics Education: Is There an Expectations Gap? Journal of Business Ethics, 51(3), 279-300. doi:10.1023/b:busi.0000032700.07607.02Allen, W. R., Bacdayan, P., Berube Kowalski, K., & Roy, M. H. (2005). Examining the impact of ethics training on business student values. Education + Training, 47(3), 170-182. doi:10.1108/00400910510592220Auger, P., & Devinney, T. M. (2007). Do What Consumers Say Matter? The Misalignment of Preferences with Unconstrained Ethical Intentions. Journal of Business Ethics, 76(4), 361-383. doi:10.1007/s10551-006-9287-yBampton, R., & Cowton, C. J. (2012). Taking Stock of Accounting Ethics Scholarship: A Review of the Journal Literature. Journal of Business Ethics, 114(3), 549-563. doi:10.1007/s10551-012-1341-3Bampton, R., & Maclagan, P. (2005). Why teach ethics to accounting students? A response to the sceptics. Business Ethics: A European Review, 14(3), 290-300. doi:10.1111/j.1467-8608.2005.00410.xBates, A., & Godoń, R. (2016). Tackling knowledge ‘like a business’? Rethinking the modernisation of higher education in Poland. Compare: A Journal of Comparative and International Education, 47(4), 454-467. doi:10.1080/03057925.2016.1234931Beggs, J. M., & Dean, K. L. (2006). Legislated Ethics or Ethics Education?: Faculty Views in the Post-Enron Era. Journal of Business Ethics, 71(1), 15-37. doi:10.1007/s10551-006-9123-4Bernardi, R. A., & Bean, D. F. (2010). Ranking North American accounting scholars publishing ethics research: 1986 through 2008. Research on Professional Responsibility and Ethics in Accounting, 139-174. doi:10.1108/s1574-0765(2010)0000014010Blanthorne, C., Kovar, S. E., & Fisher, D. G. (2007). Accounting Educators’ Opinions about Ethics in the Curriculum: An Extensive View. Issues in Accounting Education, 22(3), 355-390. doi:10.2308/iace.2007.22.3.355Boni, A., & Lozano, J. F. (2006). The generic competences: an opportunity for ethical learning in the European convergence in higher education. Higher Education, 54(6), 819-831. doi:10.1007/s10734-006-9026-4Borkowski, S. C., & Ugras, Y. J. (1992). The ethical attitudes of students as a function of age, sex and experience. Journal of Business Ethics, 11(12), 961-979. doi:10.1007/bf00871962Callahan, D. (1980). Goals in the Teaching of Ethics. Ethics Teaching in Higher Education, 61-80. doi:10.1007/978-1-4613-3138-4_2Campbell, D., & Cowton, C. J. (2015). Method issues in business ethics research: finding credible answers to questions that matter. Business Ethics: A European Review, 24, S3-S10. doi:10.1111/beer.12093Chung, J. (2003). Journal of Business Ethics, 44(4), 291-302. doi:10.1023/a:1023648703356Cohen, J. R., Pant, L. W., & Sharp, D. J. (2001). Journal of Business Ethics, 30(4), 319-336. doi:10.1023/a:1010745425675Cole, B. C., & Smith, D. L. (1996). Perceptions of business ethics: Students vs. business people. Journal of Business Ethics, 15(8), 889-896. doi:10.1007/bf00381856Craft, J. L. (2012). A Review of the Empirical Ethical Decision-Making Literature: 2004–2011. Journal of Business Ethics, 117(2), 221-259. doi:10.1007/s10551-012-1518-9Crane, A., & Matten, D. (2004). Questioning the Domain of the Business Ethics Curriculum. Journal of Business Ethics, 54(4), 357-369. doi:10.1007/s10551-004-1825-xCrane, F. G. (2004). The Teaching of Business Ethics: An Imperative at Business Schools. Journal of Education for Business, 79(3), 149-151. doi:10.3200/joeb.79.3.149-151Crowne, D. P., & Marlowe, D. (1960). A new scale of social desirability independent of psychopathology. Journal of Consulting Psychology, 24(4), 349-354. doi:10.1037/h0047358Dalton, D., & Ortegren, M. (2011). 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CSR w Polsce – Menedżerowie/Menedżerki 500 Lider/Liderka CSR. [CSR in Poland ‐ Managers 500 Leaders CSR].Warszawa. Retrieved fromhttp://odpowiedzialnybiznes.pl/public/files/raport_menedzerowie500_lidercsr_2010.pdfFord, R. C., & Richardson, W. D. (1994). Ethical decision making: A review of the empirical literature. Journal of Business Ethics, 13(3), 205-221. doi:10.1007/bf02074820Geary, W. T., & Sims, R. R. (1994). Can ethics be learned? Accounting Education, 3(1), 3-18. doi:10.1080/09639289400000002Ghaffari, F., Kyriacou, O., & Brennan, R. (2008). Exploring the Implementation of Ethics in U.K. Accounting Programs. Issues in Accounting Education, 23(2), 183-198. doi:10.2308/iace.2008.23.2.183Graham, A. (2012). The Teaching of Ethics in Undergraduate Accounting Programmes: The Students’ Perspective. Accounting Education, 21(6), 599-613. doi:10.1080/09639284.2012.725638Halbesleben, J. R. B., Wheeler, A. R., & Buckley, M. R. (2005). Everybody Else is Doing it, So Why Can?t We? Pluralistic Ignorance and Business Ethics Education. Journal of Business Ethics, 56(4), 385-398. doi:10.1007/s10551-004-3897-zHarris, H. (2008). Promoting ethical reflection in the teaching of business ethics. Business Ethics: A European Review, 17(4), 379-390. doi:10.1111/j.1467-8608.2008.00541.xHaski-Leventhal, D., Pournader, M., & McKinnon, A. (2015). The Role of Gender and Age in Business Students’ Values, CSR Attitudes, and Responsible Management Education: Learnings from the PRME International Survey. Journal of Business Ethics, 146(1), 219-239. doi:10.1007/s10551-015-2936-2Hunt, S. D., & Vitell, S. (1986). A General Theory of Marketing Ethics. Journal of Macromarketing, 6(1), 5-16. doi:10.1177/027614678600600103Hurtt, R. K., & Thomas, C. W. (2008). Implementing a Required Ethics Class for Students in Accounting: The Texas Experience. Issues in Accounting Education, 23(1), 31-51. doi:10.2308/iace.2008.23.1.31Jones, G. E., & Kavanagh, M. J. (1996). An experimental examination of the effects of individual and situational factors on unethical behavioral intentions in the workplace. Journal of Business Ethics, 15(5), 511-523. doi:10.1007/bf00381927Jones, T. M. (1991). Ethical Decision Making by Individuals in Organizations: An Issue-Contingent Model. The Academy of Management Review, 16(2), 366. doi:10.2307/258867Kaynama, S. A., King, A., & Smith, L. W. (1996). The impact of a shift in organizational role on ethical perceptions: A comparative study. Journal of Business Ethics, 15(5), 581-590. doi:10.1007/bf00381933Kish-Gephart, J. J., Harrison, D. A., & Treviño, L. K. (2010). Bad apples, bad cases, and bad barrels: Meta-analytic evidence about sources of unethical decisions at work. Journal of Applied Psychology, 95(1), 1-31. doi:10.1037/a0017103Kinach-Brzozowska, K. (1995). Window on Eastern Europe: Teaching Ethics in Gda?sk. Business Ethics: A European Review, 4(4), 233-235. doi:10.1111/j.1467-8608.1995.tb00121.xLarkin, J. M. (2000). Journal of Business Ethics, 23(4), 401-409. doi:10.1023/a:1006150718834Lau, C. L. L. (2009). A Step Forward: Ethics Education Matters! Journal of Business Ethics, 92(4), 565-584. doi:10.1007/s10551-009-0173-2Lehnert, K., Park, Y., & Singh, N. (2014). Research Note and Review of the Empirical Ethical Decision-Making Literature: Boundary Conditions and Extensions. Journal of Business Ethics, 129(1), 195-219. doi:10.1007/s10551-014-2147-2Lewicka‐Strzalecka, A. (2006). Opportunities and limitations of CSR in the postcommunist countries: Polish case. Corporate Governance: The international journal of business in society, 6(4), 440-448. doi:10.1108/14720700610689559Loe, T. W., Ferrell, L., & Mansfield, P. (2000). Journal of Business Ethics, 25(3), 185-204. doi:10.1023/a:1006083612239Low, M., Davey, H., & Hooper, K. (2008). Accounting scandals, ethical dilemmas and educational challenges. Critical Perspectives on Accounting, 19(2), 222-254. doi:10.1016/j.cpa.2006.05.010Luthar, H. K., & Karri, R. (2005). Exposure to Ethics Education and the Perception of Linkage between Organizational Ethical Behavior and Business Outcomes. Journal of Business Ethics, 61(4), 353-368. doi:10.1007/s10551-005-1548-7Macfarlane, B., & Ottewill, R. (2004). Business Ethics in the Curriculum: Assessing the Evidence from U.K. Subject Review. Journal of Business Ethics, 54(4), 339-347. doi:10.1007/s10551-004-1823-zMaclagan, P., & Campbell, T. (2011). Focusing on individuals’ ethical judgement in corporate social responsibility curricula. Business Ethics: A European Review, 20(4), 392-404. doi:10.1111/j.1467-8608.2011.01634.xMadison, R. L., & Schmidt, J. J. (2006). Survey of Time Devoted to Ethics in Accountancy Programs in North American Colleges and Universities. Issues in Accounting Education, 21(2), 99-109. doi:10.2308/iace.2006.21.2.99Malinowski, C., & Berger, K. A. (1996). Undergraduate student attitudes about hypothetical marketing dilemmas. Journal of Business Ethics, 15(5), 525-535. doi:10.1007/bf00381928Marnburg, E. (2001). Journal of Business Ethics, 32(4), 275-283. doi:10.1023/a:1010643309056Marnburg, E. (2003). Educational impacts on academic business practitioner’s moral reasoning and behaviour: effects of short courses in ethics or philosophy. Business Ethics: A European Review, 12(4), 403-413. doi:10.1111/1467-8608.00341May, D. R., Luth, M. T., & Schwoerer, C. E. (2013). The Influence of Business Ethics Education on Moral Efficacy, Moral Meaningfulness, and Moral Courage: A Quasi-experimental Study. Journal of Business Ethics, 124(1), 67-80. doi:10.1007/s10551-013-1860-6Mayhew, B. W., & Murphy, P. R. (2008). The Impact of Ethics Education on Reporting Behavior. Journal of Business Ethics, 86(3), 397-416. doi:10.1007/s10551-008-9854-5McCabe, A. C., Ingram, R., & Dato-on, M. C. (2006). ‘The Business of Ethics and Gender’. Journal of Business Ethics, 64(2), 101-116. doi:10.1007/s10551-005-3327-xMedeiros, K. E., Watts, L. L., Mulhearn, T. J., Steele, L. M., Mumford, M. D., & Connelly, S. (2017). What is Working, What is Not, and What We Need to Know: a Meta-Analytic Review of Business Ethics Instruction. Journal of Academic Ethics, 15(3), 245-275. doi:10.1007/s10805-017-9281-2Nguyen, N. T., & Biderman, M. D. (2008). Studying Ethical Judgments and Behavioral Intentions Using Structural Equations: Evidence from the Multidimensional Ethics Scale*. Journal of Business Ethics, 83(4), 627-640. doi:10.1007/s10551-007-9644-5O’Fallon, M. J., & Butterfield, K. D. (2005). A Review of The Empirical Ethical Decision-Making Literature: 1996–2003. Journal of Business Ethics, 59(4), 375-413. doi:10.1007/s10551-005-2929-7Pan, Y., & Sparks, J. R. (2012). Predictors, consequence, and measurement of ethical judgments: Review and meta-analysis. Journal of Business Research, 65(1), 84-91. doi:10.1016/j.jbusres.2011.02.002Peppas, S. C., & Diskin, B. A. (2001). College courses in ethics: do they really make a difference? International Journal of Educational Management, 15(7), 347-353. doi:10.1108/09513540110407947Peterson, D., Rhoads, A., & Vaught, B. C. (2001). Journal of Business Ethics, 31(3), 225-232. doi:10.1023/a:1010744927551Rentsch, J. R., & Klimoski, R. J. (2001). Why do ?great minds? think alike?: antecedents of team member schema agreement. Journal of Organizational Behavior, 22(2), 107-120. doi:10.1002/job.81Popowska, M. (2016). Shaping New Generations of Managers and Consumers: CSR Implementation and Higher Education System in Poland. Social Responsibility Education Across Europe, 115-138. doi:10.1007/978-3-319-26716-6_6Rajah, R., Reifferscheid, G., & Borgmann, E.-L. (2016). Social Responsibility Education in Germany. Social Responsibility Education Across Europe, 29-48. doi:10.1007/978-3-319-26716-6_2Randall, D. M., & Fernandes, M. F. (1991). The social desirability response bias in ethics research. Journal of Business Ethics, 10(11), 805-817. doi:10.1007/bf00383696Rest, J. R. (1980). Development in moral judgment research. Developmental Psychology, 16(4), 251-256. doi:10.1037/0012-1649.16.4.251Ritter, B. A. (2006). Can Business Ethics be Trained? A Study of the Ethical Decision-making Process in Business Students. Journal of Business Ethics, 68(2), 153-164. doi:10.1007/s10551-006-9062-0Roozen, I., De Pelsmacker, P., & Bostyn, F. (2001). Journal of Business Ethics, 33(2), 87-99. doi:10.1023/a:1017536222355Ruegger, D., & King, E. W. (1992). A study of the effect of age and gender upon student business ethics. Journal of Business Ethics, 11(3), 179-186. doi:10.1007/bf00871965Ryan, L. V. (1995). WINDOW ON EASTERN EUROPE: Ethical Perceptions of Polish Business Students. Business Ethics: A European Review, 4(1), 36-42. doi:10.1111/j.1467-8608.1995.tb00108.xSleeper, B. J., Schneider, K. C., Weber, P. S., & Weber, J. E. (2006). Scale and Study of Student Attitudes Toward Business Education’s Role in Addressing Social Issues. Journal of Business Ethics, 68(4), 381-391. doi:10.1007/s10551-006-9000-1Sojkin, B., Bartkowiak, P., & Skuza, A. (2014). Changes in students’ choice determinants in Poland: a comparative study of tertiary business education between 2008 and 2013. Higher Education, 69(2), 209-224. doi:10.1007/s10734-014-9770-9Stachowicz-Stanusch, A. (2011). The Impact of Business Education on Students’ Moral Competency. Vision: The Journal of Business Perspective, 15(2), 163-176. doi:10.1177/097226291101500207Stedham, Y., Yamamura, J. H., & Beekun, R. I. (2007). Gender differences in business ethics: justice and relativist perspectives. Business Ethics: A European Review, 16(2), 163-174. doi:10.1111/j.1467-8608.2007.00486.xStrahan, R., & Gerbasi, K. C. (1972). Short, homogeneous versions of the Marlow-Crowne Social Desirability Scale. Journal of Clinical Psychology, 28(2), 191-193. doi:10.1002/1097-4679(197204)28:23.0.co;2-gTenbrunsel, A. E., & Smith‐Crowe, K. (2008). 13 Ethical Decision Making: Where We’ve Been and Where We’re Going. The Academy of Management Annals, 2(1), 545-607. doi:10.1080/19416520802211677Thorne, L. (1999). An analysis of the association of demographic variables with the cognitive moral development of Canadian accounting students: an examination of the applicability of American-based findings to the Canadian context. Journal of Accounting Education, 17(2-3), 157-174. doi:10.1016/s0748-5751(99)00019-6Tormo-Carbó, G., Seguí-Mas, E., & Oltra, V. (2014). Accounting Ethics in Unfriendly Environments: The Educational Challenge. Journal of Business Ethics, 135(1), 161-175. doi:10.1007/s10551-014-2455-6Trevino, L. K. (1986). Ethical Decision Making in Organizations: A Person-Situation Interactionist Model. The Academy of Management Review, 11(3), 601. doi:10.2307/258313Trevino, L. K. (1992). 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Lessons learned from additional research analyses of unsolved clinical exome cases

BACKGROUND: Given the rarity of most single-gene Mendelian disorders, concerted efforts of data exchange between clinical and scientific communities are critical to optimize molecular diagnosis and novel disease gene discovery. METHODS: We designed and implemented protocols for the study of cases for which a plausible molecular diagnosis was not achieved in a clinical genomics diagnostic laboratory (i.e. unsolved clinical exomes). Such cases were recruited to a research laboratory for further analyses, in order to potentially: (1) accelerate novel disease gene discovery; (2) increase the molecular diagnostic yield of whole exome sequencing (WES); and (3) gain insight into the genetic mechanisms of disease. Pilot project data included 74 families, consisting mostly of parent-offspring trios. Analyses performed on a research basis employed both WES from additional family members and complementary bioinformatics approaches and protocols. RESULTS: Analysis of all possible modes of Mendelian inheritance, focusing on both single nucleotide variants (SNV) and copy number variant (CNV) alleles, yielded a likely contributory variant in 36% (27/74) of cases. If one includes candidate genes with variants identified within a single family, a potential contributory variant was identified in a total of ~51% (38/74) of cases enrolled in this pilot study. The molecular diagnosis was achieved in 30/63 trios (47.6%). Besides this, the analysis workflow yielded evidence for pathogenic variants in disease-associated genes in 4/6 singleton cases (66.6%), 1/1 multiplex family involving three affected siblings, and 3/4 (75%) quartet families. Both the analytical pipeline and the collaborative efforts between the diagnostic and research laboratories provided insights that allowed recent disease gene discoveries (PURA, TANGO2, EMC1, GNB5, ATAD3A, and MIPEP) and increased the number of novel genes, defined in this study as genes identified in more than one family (DHX30 and EBF3). CONCLUSION: An efficient genomics pipeline in which clinical sequencing in a diagnostic laboratory is followed by the detailed reanalysis of unsolved cases in a research environment, supplemented with WES data from additional family members, and subject to adjuvant bioinformatics analyses including relaxed variant filtering parameters in informatics pipelines, can enhance the molecular diagnostic yield and provide mechanistic insights into Mendelian disorders. Implementing these approaches requires collaborative clinical molecular diagnostic and research efforts