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1. [Not Available].

Author

Van Asbroeck, Stephanie, Köhler, Sebastian, van Boxtel, Martin, Lipnicki, Darren, Crawford, John, Castro-Costa, Erico, Lima-Costa, Maria, Blay, Sergio, Shifu, Xiao, Wang, Tao, Yue, Ling, Lipton, Richard, Katz, Mindy, Derby, Carol, Guerchet, Maëlenn, Preux, Pierre-Marie, Mbelesso, Pascal, Norton, Joanna, Ritchie, Karen, Skoog, Ingmar, Najar, Jenna, Sterner, Therese, Scarmeas, Nikolaos, Yannakoulia, Mary, Dardiotis, Themis, Rolandi, Elena, Davin, Annalisa, Rossi, Michele, Gureje, Oye, Ojagbemi, Akin, Bello, Toyin, Kim, Ki, Han, Ji, Oh, Dae, Trompet, Stella, Gussekloo, Jacobijn, Riedel-Heller, Steffi, Röhr, Susanne, Pabst, Alexander, Shahar, Suzana, Rivan, Nurul, Singh, Devinder, Jacobsen, Erin, Ganguli, Mary, Hughes, Tiffany, Haan, Mary, Aiello, Allison, Ding, Ding, Zhao, Qianhua, Xiao, Zhenxu, Narazaki, Kenji, Chen, Tao, Chen, Sanmei, Ng, Tze, Gwee, Xinyi, Gao, Qi, Brodaty, Henry, Trollor, Julian, Kochan, Nicole, Lobo, Antonio, Santabárbara, Javier, Gracia-Garcia, Patricia, Sachdev, Perminder, and Deckers, Kay

Subjects
age, dementia, dementia risk reduction, education, effect modification, ethnicity, individual participant data meta‐analysis, interaction, lifestyle, primary prevention, region, risk factor, risk personalization, sex, socioeconomic, Humans, Dementia, Life Style, Male, Female, Risk Factors, Aged, Prospective Studies, Incidence
Abstract

INTRODUCTION: The LIfestyle for BRAin Health (LIBRA) index yields a dementia risk score based on modifiable lifestyle factors and is validated in Western samples. We investigated whether the association between LIBRA scores and incident dementia is moderated by geographical location or sociodemographic characteristics. METHODS: We combined data from 21 prospective cohorts across six continents (N = 31,680) and conducted cohort-specific Cox proportional hazard regression analyses in a two-step individual participant data meta-analysis. RESULTS: A one-standard-deviation increase in LIBRA score was associated with a 21% higher risk for dementia. The association was stronger for Asian cohorts compared to European cohorts, and for individuals aged ≤75 years (vs older), though only within the first 5 years of follow-up. No interactions with sex, education, or socioeconomic position were observed. DISCUSSION: Modifiable risk and protective factors appear relevant for dementia risk reduction across diverse geographical and sociodemographic groups. HIGHLIGHTS: A two-step individual participant data meta-analysis was conducted. This was done at a global scale using data from 21 ethno-regionally diverse cohorts. The association between a modifiable dementia risk score and dementia was examined. The association was modified by geographical region and age at baseline. Yet, modifiable dementia risk and protective factors appear relevant in all investigated groups and regions.

Published
2024

2. Current Affairs: A Measurement Study of Deployment and Security Trends in EV Charging Infrastructure

Author

Szakály, Marcell, Köhler, Sebastian, and Martinovic, Ivan

Subjects
Computer Science - Cryptography and Security
Abstract

The deployment of electric vehicle charging infrastructure is occurring at a rapid pace. Simultaneously, existing standards, such as ISO 15118, which defines critical charging communication, are being improved and further developed. In this paper, we conduct a measurement study of already deployed DC charging stations to analyze the current state of deployment for various protocols. We present the adoption of TLS, and various EV charging protocols with a direct security impact, as well as observations about the Signal Level Attenuation Characterization (SLAC) process, and encryption keys. Our results indicate that even recently installed charging stations (December 2023) do not adhere to the latest version of the standard, leaving them vulnerable to attacks. We found that 84% of the surveyed charging stations do not implement Transport Layer Security (TLS), and are thus unable to implement the latest versions of the ISO 15118 protocol, leaving them vulnerable to attacks already demonstrated years ago. Finally, we observe and document anomalous behavior and violations of the standard.

Published
2024

3. Sticky Fingers: Resilience of Satellite Fingerprinting against Jamming Attacks

Author

Smailes, Joshua, Salkield, Edd, Köhler, Sebastian, Birnbach, Simon, Strohmeier, Martin, and Martinovic, Ivan

Subjects
Computer Science - Cryptography and Security
Abstract

In the wake of increasing numbers of attacks on radio communication systems, a range of techniques are being deployed to increase the security of these systems. One such technique is radio fingerprinting, in which the transmitter can be identified and authenticated by observing small hardware differences expressed in the signal. Fingerprinting has been explored in particular in the defense of satellite systems, many of which are insecure and cannot be retrofitted with cryptographic security. In this paper, we evaluate the effectiveness of radio fingerprinting techniques under interference and jamming attacks, usually intended to deny service. By taking a pre-trained fingerprinting model and gathering a new dataset in which different levels of Gaussian noise and tone jamming have been added to the legitimate signal, we assess the attacker power required in order to disrupt the transmitter fingerprint such that it can no longer be recognized. We compare this to Gaussian jamming on the data portion of the signal, obtaining the remarkable result that transmitter fingerprints are still recognizable even in the presence of moderate levels of noise. Through deeper analysis of the results, we conclude that it takes a similar amount of jamming power in order to disrupt the fingerprint as it does to jam the message contents itself, so it is safe to include a fingerprinting system to authenticate satellite communication without opening up the system to easier denial-of-service attacks., Comment: 9 pages, 12 figures

Published
2024
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4. Microvascular Dysfunction and Whole-Brain White Matter Connectivity: The Maastricht Study.

Author

Beran, Magdalena, van Gennip, April, Stehouwer, Coen, Jansen, Jacobus, Gupta, Monideepa, Houben, Alfons, Berendschot, Tos, Webers, Carroll, Wesselius, Anke, Schalkwijk, Casper, Backes, Walter, de Jong, Joost, van der Kallen, Carla, van Greevenbroek, Marleen, Köhler, Sebastian, Vonk, Jet, Geerlings, Mirjam, Schram, Miranda, and van Sloten, Thomas

Subjects
cerebral microcirculation, cohort, diffusion tensor imaging, microvascular dysfunction, white matter connectivity, Humans, Female, Middle Aged, Aged, Male, White Matter, Cross-Sectional Studies, Brain, Diffusion Magnetic Resonance Imaging, Biomarkers
Abstract

BACKGROUND: Microvascular dysfunction is involved in the development of various cerebral disorders. It may contribute to these disorders by disrupting white matter tracts and altering brain connectivity, but evidence is scarce. We investigated the association between multiple biomarkers of microvascular function and whole-brain white matter connectivity. METHODS AND RESULTS: Cross-sectional data from The Maastricht Study, a Dutch population-based cohort (n=4326; age, 59.4±8.6 years; 49.7% women). Measures of microvascular function included urinary albumin excretion, central retinal arteriolar and venular calibers, composite scores of flicker light-induced retinal arteriolar and venular dilation, and plasma biomarkers of endothelial dysfunction (intercellular adhesion molecule-1, vascular cell adhesion molecule-1, E-selectin, and von Willebrand factor). White matter connectivity was calculated from 3T diffusion magnetic resonance imaging to quantify the number (average node degree) and organization (characteristic path length, global efficiency, clustering coefficient, and local efficiency) of white matter connections. A higher plasma biomarkers of endothelial dysfunction composite score was associated with a longer characteristic path length (β per SD, 0.066 [95% CI, 0.017-0.114]) after adjustment for sociodemographic, lifestyle, and cardiovascular factors but not with any of the other white matter connectivity measures. After multiple comparison correction, this association was nonsignificant. None of the other microvascular function measures were associated with any of the connectivity measures. CONCLUSIONS: These findings suggest that microvascular dysfunction as measured by indirect markers is not associated with whole-brain white matter connectivity.

Published
2024

5. Watch This Space: Securing Satellite Communication through Resilient Transmitter Fingerprinting

Author

Smailes, Joshua, Köhler, Sebastian, Birnbach, Simon, Strohmeier, Martin, and Martinovic, Ivan

Subjects
Computer Science - Cryptography and Security, Electrical Engineering and Systems Science - Signal Processing
Abstract

Due to an increase in the availability of cheap off-the-shelf radio hardware, spoofing and replay attacks on satellite ground systems have become more accessible than ever. This is particularly a problem for legacy systems, many of which do not offer cryptographic security and cannot be patched to support novel security measures. In this paper we explore radio transmitter fingerprinting in satellite systems. We introduce the SatIQ system, proposing novel techniques for authenticating transmissions using characteristics of transmitter hardware expressed as impairments on the downlinked signal. We look in particular at high sample rate fingerprinting, making fingerprints difficult to forge without similarly high sample rate transmitting hardware, thus raising the budget for attacks. We also examine the difficulty of this approach with high levels of atmospheric noise and multipath scattering, and analyze potential solutions to this problem. We focus on the Iridium satellite constellation, for which we collected 1705202 messages at a sample rate of 25 MS/s. We use this data to train a fingerprinting model consisting of an autoencoder combined with a Siamese neural network, enabling the model to learn an efficient encoding of message headers that preserves identifying information. We demonstrate the system's robustness under attack by replaying messages using a Software-Defined Radio, achieving an Equal Error Rate of 0.120, and ROC AUC of 0.946. Finally, we analyze its stability over time by introducing a time gap between training and testing data, and its extensibility by introducing new transmitters which have not been seen before. We conclude that our techniques are useful for building systems that are stable over time, can be used immediately with new transmitters without retraining, and provide robustness against spoofing and replay by raising the required budget for attacks., Comment: 14 pages, 16 figures

Published
2023
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6. Assault and Battery: Evaluating the Security of Power Conversion Systems Against Electromagnetic Injection Attacks

Author

Szakály, Marcell, Köhler, Sebastian, Strohmeier, Martin, and Martinovic, Ivan

Subjects
Computer Science - Cryptography and Security
Abstract

Many modern devices, including critical infrastructures, depend on the reliable operation of electrical power conversion systems. The small size and versatility of switched-mode power converters has resulted in their widespread adoption. Whereas transformer-based systems passively convert voltage, switched-mode converters feature an actively regulated feedback loop, which relies on accurate sensor measurements. Previous academic work has shown that many types of sensors are vulnerable to Intentional Electromagnetic Interference (IEMI) attacks, and it has been postulated that power converters, too, are affected. In this paper, we present the first detailed study on switched-mode power converters by targeting their voltage and current sensors through IEMI attacks. We present a theoretical framework for evaluating IEMI attacks against feedback-based power supplies in the general case. We experimentally validate our theoretical predictions by analyzing multiple AC-DC and DC-DC converters, automotive grade current sensors, and dedicated battery chargers, and demonstrate the systematic vulnerability of all examined categories under real-world conditions. Finally, we demonstrate that sensor attacks on power converters can cause permanent damage to Li-Ion batteries during the charging process.

Published
2023

7. Dishing Out DoS: How to Disable and Secure the Starlink User Terminal

Author

Smailes, Joshua, Salkield, Edd, Köhler, Sebastian, Birnbach, Simon, and Martinovic, Ivan

Subjects
Computer Science - Cryptography and Security, Computer Science - Networking and Internet Architecture
Abstract

Satellite user terminals are a promising target for adversaries seeking to target satellite communication networks. Despite this, many protections commonly found in terrestrial routers are not present in some user terminals. As a case study we audit the attack surface presented by the Starlink router's admin interface, using fuzzing to uncover a denial of service attack on the Starlink user terminal. We explore the attack's impact, particularly in the cases of drive-by attackers, and attackers that are able to maintain a continuous presence on the network. Finally, we discuss wider implications, looking at lessons learned in terrestrial router security, and how to properly implement them in this new context., Comment: 6 pages, 2 figures; the first two authors contributed equally to this paper

Published
2023

8. Sex differences in dementia risk and risk factors: Individual-participant data analysis using 21 cohorts across six continents from the COSMIC consortium.

Author

Gong, Jessica, Harris, Katie, Lipnicki, Darren, Castro-Costa, Erico, Lima-Costa, Maria, Diniz, Breno, Xiao, Shifu, Lipton, Richard, Katz, Mindy, Wang, Cuiling, Preux, Pierre-Marie, Guerchet, Maëlenn, Gbessemehlan, Antoine, Ritchie, Karen, Ancelin, Marie-Laure, Skoog, Ingmar, Najar, Jenna, Sterner, Therese, Scarmeas, Nikolaos, Yannakoulia, Mary, Kosmidis, Mary, Guaita, Antonio, Rolandi, Elena, Davin, Annalisa, Gureje, Oye, Trompet, Stella, Gussekloo, Jacobijn, Riedel-Heller, Steffi, Pabst, Alexander, Röhr, Susanne, Shahar, Suzana, Singh, Devinder, Rivan, Nurul, Boxtel, Martin, Köhler, Sebastian, Ganguli, Mary, Chang, Chung-Chou, Jacobsen, Erin, Ding, Ding, Zhao, Qianhua, Xiao, Zhenxu, Narazaki, Kenji, Chen, Tao, Chen, Sanmei, Ng, Tze, Gwee, Xinyi, Numbers, Katya, Mather, Karen, Scazufca, Marcia, Lobo, Antonio, De-la-Cámara, Concepción, Lobo, Elena, Sachdev, Perminder, Brodaty, Henry, Hackett, Maree, Peters, Sanne, Woodward, Mark, and Haan, Mary

Subjects
data harmonization, dementia, diversity, risk factor, sex difference, Humans, Male, Female, Sex Characteristics, Risk Factors, Alcohol Drinking, Dementia, Sex Factors
Abstract

INTRODUCTION: Sex differences in dementia risk, and risk factor (RF) associations with dementia, remain uncertain across diverse ethno-regional groups. METHODS: A total of 29,850 participants (58% women) from 21 cohorts across six continents were included in an individual participant data meta-analysis. Sex-specific hazard ratios (HRs), and women-to-men ratio of hazard ratios (RHRs) for associations between RFs and all-cause dementia were derived from mixed-effect Cox models. RESULTS: Incident dementia occurred in 2089 (66% women) participants over 4.6 years (median). Women had higher dementia risk (HR, 1.12 [1.02, 1.23]) than men, particularly in low- and lower-middle-income economies. Associations between longer education and former alcohol use with dementia risk (RHR, 1.01 [1.00, 1.03] per year, and 0.55 [0.38, 0.79], respectively) were stronger for men than women; otherwise, there were no discernible sex differences in other RFs. DISCUSSION: Dementia risk was higher in women than men, with possible variations by country-level income settings, but most RFs appear to work similarly in women and men.

Published
2023

13. Brokenwire : Wireless Disruption of CCS Electric Vehicle Charging

Author

Köhler, Sebastian, Baker, Richard, Strohmeier, Martin, and Martinovic, Ivan

Subjects
Computer Science - Cryptography and Security
Abstract

We present a novel attack against the Combined Charging System, one of the most widely used DC rapid charging technologies for electric vehicles (EVs). Our attack, Brokenwire, interrupts necessary control communication between the vehicle and charger, causing charging sessions to abort. The attack requires only temporary physical proximity and can be conducted wirelessly from a distance, allowing individual vehicles or entire fleets to be disrupted stealthily and simultaneously. In addition, it can be mounted with off-the-shelf radio hardware and minimal technical knowledge. By exploiting CSMA/CA behavior, only a very weak signal needs to be induced into the victim to disrupt communication - exceeding the effectiveness of broadband noise jamming by three orders of magnitude. The exploited behavior is a required part of the HomePlug Green PHY, DIN 70121 & ISO 15118 standards and all known implementations exhibit it. We first study the attack in a controlled testbed and then demonstrate it against eight vehicles and 20 chargers in real deployments. We find the attack to be successful in the real world, at ranges up to 47 m, for a power budget of less than 1 W. We further show that the attack can work between the floors of a building (e.g., multi-story parking), through perimeter fences, and from `drive-by' attacks. We present a heuristic model to estimate the number of vehicles that can be attacked simultaneously for a given output power. Brokenwire has immediate implications for a substantial proportion of the around 12 million battery EVs on the roads worldwide - and profound effects on the new wave of electrification for vehicle fleets, both for private enterprise and crucial public services, as well as electric buses, trucks and small ships. As such, we conducted a disclosure to the industry and discussed a range of mitigation techniques that could be deployed to limit the impact.

Published
2022
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14. A Simple Standard for Sharing Ontological Mappings (SSSOM)

Author

Matentzoglu, Nicolas, Balhoff, James P., Bello, Susan M., Bizon, Chris, Brush, Matthew, Callahan, Tiffany J., Chute, Christopher G, Duncan, William D., Evelo, Chris T., Gabriel, Davera, Graybeal, John, Gray, Alasdair, Gyori, Benjamin M., Haendel, Melissa, Harmse, Henriette, Harris, Nomi L., Harrow, Ian, Hegde, Harshad, Hoyt, Amelia L., Hoyt, Charles T., Jiao, Dazhi, Jiménez-Ruiz, Ernesto, Jupp, Simon, Kim, Hyeongsik, Koehler, Sebastian, Liener, Thomas, Long, Qinqin, Malone, James, McLaughlin, James A., McMurry, Julie A., Moxon, Sierra, Munoz-Torres, Monica C., Osumi-Sutherland, David, Overton, James A., Peters, Bjoern, Putman, Tim, Queralt-Rosinach, Núria, Shefchek, Kent, Solbrig, Harold, Thessen, Anne, Tudorache, Tania, Vasilevsky, Nicole, Wagner, Alex H., and Mungall, Christopher J.

Subjects
Computer Science - Databases
Abstract

Despite progress in the development of standards for describing and exchanging scientific information, the lack of easy-to-use standards for mapping between different representations of the same or similar objects in different databases poses a major impediment to data integration and interoperability. Mappings often lack the metadata needed to be correctly interpreted and applied. For example, are two terms equivalent or merely related? Are they narrow or broad matches? Are they associated in some other way? Such relationships between the mapped terms are often not documented, leading to incorrect assumptions and making them hard to use in scenarios that require a high degree of precision (such as diagnostics or risk prediction). Also, the lack of descriptions of how mappings were done makes it hard to combine and reconcile mappings, particularly curated and automated ones. The Simple Standard for Sharing Ontological Mappings (SSSOM) addresses these problems by: 1. Introducing a machine-readable and extensible vocabulary to describe metadata that makes imprecision, inaccuracy and incompleteness in mappings explicit. 2. Defining an easy to use table-based format that can be integrated into existing data science pipelines without the need to parse or query ontologies, and that integrates seamlessly with Linked Data standards. 3. Implementing open and community-driven collaborative workflows designed to evolve the standard continuously to address changing requirements and mapping practices. 4. Providing reference tools and software libraries for working with the standard. In this paper, we present the SSSOM standard, describe several use cases, and survey some existing work on standardizing the exchange of mappings, with the goal of making mappings Findable, Accessible, Interoperable, and Reusable (FAIR). The SSSOM specification is at http://w3id.org/sssom/spec., Comment: Corresponding author: Christopher J. Mungall

Published
2021
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15. The GA4GH Phenopacket schema defines a computable representation of clinical data

Author

Jacobsen, Julius OB, Baudis, Michael, Baynam, Gareth S, Beckmann, Jacques S, Beltran, Sergi, Buske, Orion J, Callahan, Tiffany J, Chute, Christopher G, Courtot, Mélanie, Danis, Daniel, Elemento, Olivier, Essenwanger, Andrea, Freimuth, Robert R, Gargano, Michael A, Groza, Tudor, Hamosh, Ada, Harris, Nomi L, Kaliyaperumal, Rajaram, Lloyd, Kevin C Kent, Khalifa, Aly, Krawitz, Peter M, Köhler, Sebastian, Laraway, Brian J, Lehväslaiho, Heikki, Matalonga, Leslie, McMurry, Julie A, Metke-Jimenez, Alejandro, Mungall, Christopher J, Munoz-Torres, Monica C, Ogishima, Soichi, Papakonstantinou, Anastasios, Piscia, Davide, Pontikos, Nikolas, Queralt-Rosinach, Núria, Roos, Marco, Sass, Julian, Schofield, Paul N, Seelow, Dominik, Siapos, Anastasios, Smedley, Damian, Smith, Lindsay D, Steinhaus, Robin, Sundaramurthi, Jagadish Chandrabose, Swietlik, Emilia M, Thun, Sylvia, Vasilevsky, Nicole A, Wagner, Alex H, Warner, Jeremy L, Weiland, Claus, Haendel, Melissa A, and Robinson, Peter N

Subjects
GAGH Phenopacket Modeling Consortium
Published
2022

19. Signal Injection Attacks against CCD Image Sensors

Author

Köhler, Sebastian, Baker, Richard, and Martinovic, Ivan

Subjects
Computer Science - Cryptography and Security, Computer Science - Computer Vision and Pattern Recognition
Abstract

Since cameras have become a crucial part in many safety-critical systems and applications, such as autonomous vehicles and surveillance, a large body of academic and non-academic work has shown attacks against their main component - the image sensor. However, these attacks are limited to coarse-grained and often suspicious injections because light is used as an attack vector. Furthermore, due to the nature of optical attacks, they require the line-of-sight between the adversary and the target camera. In this paper, we present a novel post-transducer signal injection attack against CCD image sensors, as they are used in professional, scientific, and even military settings. We show how electromagnetic emanation can be used to manipulate the image information captured by a CCD image sensor with the granularity down to the brightness of individual pixels. We study the feasibility of our attack and then demonstrate its effects in the scenario of automatic barcode scanning. Our results indicate that the injected distortion can disrupt automated vision-based intelligent systems.

Published
2021

25. They See Me Rollin': Inherent Vulnerability of the Rolling Shutter in CMOS Image Sensors

Author

Köhler, Sebastian, Lovisotto, Giulio, Birnbach, Simon, Baker, Richard, and Martinovic, Ivan

Subjects
Computer Science - Computer Vision and Pattern Recognition, Computer Science - Cryptography and Security
Abstract

In this paper, we describe how the electronic rolling shutter in CMOS image sensors can be exploited using a bright, modulated light source (e.g., an inexpensive, off-the-shelf laser), to inject fine-grained image disruptions. We demonstrate the attack on seven different CMOS cameras, ranging from cheap IoT to semi-professional surveillance cameras, to highlight the wide applicability of the rolling shutter attack. We model the fundamental factors affecting a rolling shutter attack in an uncontrolled setting. We then perform an exhaustive evaluation of the attack's effect on the task of object detection, investigating the effect of attack parameters. We validate our model against empirical data collected on two separate cameras, showing that by simply using information from the camera's datasheet the adversary can accurately predict the injected distortion size and optimize their attack accordingly. We find that an adversary can hide up to 75% of objects perceived by state-of-the-art detectors by selecting appropriate attack parameters. We also investigate the stealthiness of the attack in comparison to a na\"{i}ve camera blinding attack, showing that common image distortion metrics can not detect the attack presence. Therefore, we present a new, accurate and lightweight enhancement to the backbone network of an object detector to recognize rolling shutter attacks. Overall, our results indicate that rolling shutter attacks can substantially reduce the performance and reliability of vision-based intelligent systems., Comment: 15 pages, 15 figures

Published
2021

26. White Matter Hyperintensity Volume and Poststroke Cognition: An Individual Patient Data Pooled Analysis of 9 Ischemic Stroke Cohort Studies

Author

de Kort, Floor A.S., Coenen, Mirthe, Weaver, Nick A., Kuijf, Hugo J., Aben, Hugo P., Bae, Hee-Joon, Bordet, Régis, Cammà, Guido, Chen, Christopher P.L.H., Dewenter, Anna, Duering, Marco, Fang, Rong, van der Giessen, Ruben S., Hamilton, Olivia K.L., Hilal, Saima, Huenges Wajer, Irene M.C., Kan, Cheuk Ni, Kim, Jonguk, Kim, Beom Joon, Köhler, Sebastian, de Kort, Paul L.M., Koudstaal, Peter J., Lim, Jae-Sung, Lopes, Renaud, Mok, Vincent C.T., Staals, Julie, Venketasubramanian, Narayanaswamy, Verhagen, Charlotte M., Verhey, Frans R.J., Wardlaw, Joanna M., Xu, Xin, Yu, Kyung-Ho, Biesbroek, J. Matthijs, and Biessels, Geert Jan

Published
2023
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27. A multidomain lifestyle intervention to maintain optimal cognitive functioning in Dutch older adults—study design and baseline characteristics of the FINGER-NL randomized controlled trial

Author

Deckers, Kay, Zwan, Marissa D., Soons, Lion M., Waterink, Lisa, Beers, Sonja, van Houdt, Sofie, Stiensma, Berrit, Kwant, Judy Z., Wimmers, Sophie C. P. M., Heutz, Rachel A. M., Claassen, Jurgen A. H. R., Oosterman, Joukje M., de Heus, Rianne A. A., van de Rest, Ondine, Vermeiren, Yannick, Voshaar, Richard C. Oude, Smidt, Nynke, Broersen, Laus M., Sikkes, Sietske A. M., Aarts, Esther, Köhler, Sebastian, and van der Flier, Wiesje M.

Published
2024
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29. Both short and long sleep durations are associated with type 2 diabetes, independent from traditional lifestyle risk factors—The Maastricht Study

Author

Albers, Jeroen D., Meertens, Ree M., Savelberg, Hans H.C.M., Köhler, Sebastian, Wesselius, Anke, Schram, Miranda T., Stehouwer, Coen D.A., de Galan, Bastiaan E., van Greevenbroek, Marleen M.J., van der Kallen, Carla J.H., Eussen, Simone J.P.M., Bosma, Hans, Schaper, Nicolaas C., and Koster, Annemarie

Published
2023
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30. The Human Phenotype Ontology in 2021

Author

Köhler, Sebastian, Gargano, Michael, Matentzoglu, Nicolas, Carmody, Leigh C, Lewis-Smith, David, Vasilevsky, Nicole A, Danis, Daniel, Balagura, Ganna, Baynam, Gareth, Brower, Amy M, Callahan, Tiffany J, Chute, Christopher G, Est, Johanna L, Galer, Peter D, Ganesan, Shiva, Griese, Matthias, Haimel, Matthias, Pazmandi, Julia, Hanauer, Marc, Harris, Nomi L, Hartnett, Michael J, Hastreiter, Maximilian, Hauck, Fabian, He, Yongqun, Jeske, Tim, Kearney, Hugh, Kindle, Gerhard, Klein, Christoph, Knoflach, Katrin, Krause, Roland, Lagorce, David, McMurry, Julie A, Miller, Jillian A, Munoz-Torres, Monica C, Peters, Rebecca L, Rapp, Christina K, Rath, Ana M, Rind, Shahmir A, Rosenberg, Avi Z, Segal, Michael M, Seidel, Markus G, Smedley, Damian, Talmy, Tomer, Thomas, Yarlalu, Wiafe, Samuel A, Xian, Julie, Yüksel, Zafer, Helbig, Ingo, Mungall, Christopher J, Haendel, Melissa A, and Robinson, Peter N

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Neurosciences, Neurodegenerative, Networking and Information Technology R&D (NITRD), Animals, Biological Ontologies, Computational Biology, Databases, Factual, Disease, Disease Models, Animal, Genome, Genotype, Humans, Infant, Newborn, International Cooperation, Internet, Neonatal Screening, Pharmacogenetics, Phenotype, Software, Terminology as Topic, Environmental Sciences, Information and Computing Sciences, Developmental Biology, Biological sciences, Chemical sciences, Environmental sciences
Abstract

The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas. For example, the seizure subontology now reflects the International League Against Epilepsy (ILAE) guidelines and these enhancements have already shown clinical validity. We present new efforts to harmonize computational definitions of phenotypic abnormalities across the HPO and multiple phenotype ontologies used for animal models of disease. These efforts will benefit software such as Exomiser by improving the accuracy and scope of cross-species phenotype matching. The computational modeling strategy used by the HPO to define disease entities and phenotypic features and distinguish between them is explained in detail.We also report on recent efforts to translate the HPO into indigenous languages. Finally, we summarize recent advances in the use of HPO in electronic health record systems.

Published
2021

31. Does parity matter in women’s risk of dementia? A COSMIC collaboration cohort study

Author

Bae, Jong Bin, Lipnicki, Darren M, Han, Ji Won, Sachdev, Perminder S, Kim, Tae Hui, Kwak, Kyung Phil, Kim, Bong Jo, Kim, Shin Gyeom, Kim, Jeong Lan, Moon, Seok Woo, Park, Joon Hyuk, Ryu, Seung-Ho, Youn, Jong Chul, Lee, Dong Young, Lee, Dong Woo, Lee, Seok Bum, Lee, Jung Jae, Jhoo, Jin Hyeong, Llibre-Rodriguez, Juan J, Llibre-Guerra, Jorge J, Valhuerdi-Cepero, Adolfo J, Ritchie, Karen, Ancelin, Marie-Laure, Carriere, Isabelle, Skoog, Ingmar, Najar, Jenna, Sterner, Therese Rydberg, Scarmeas, Nikolaos, Yannakoulia, Mary, Dardiotis, Efthimios, Meguro, Kenichi, Kasai, Mari, Nakamura, Kei, Riedel-Heller, Steffi, Roehr, Susanne, Pabst, Alexander, van Boxtel, Martin, Köhler, Sebastian, Ding, Ding, Zhao, Qianhua, Liang, Xiaoniu, Scazufca, Marcia, Lobo, Antonio, De-la-Cámara, Concepción, Lobo, Elena, and Kim, Ki Woong

Subjects
Alzheimer's Disease, Brain Disorders, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Clinical Research, Neurodegenerative, Prevention, Neurosciences, Dementia, Aging, Acquired Cognitive Impairment, Neurological, Cohort Studies, Female, Humans, Middle Aged, Parity, Risk Factors, Alzheimer's disease, Risk factors, Women, for Cohort Studies of Memory in an International Consortium, Alzheimer’s disease, Medical and Health Sciences, General & Internal Medicine
Abstract

BackgroundDementia shows sex difference in its epidemiology. Childbirth, a distinctive experience of women, is associated with the risk for various diseases. However, its association with the risk of dementia in women has rarely been studied.MethodsWe harmonized and pooled baseline data from 11 population-based cohorts from 11 countries over 3 continents, including 14,792 women aged 60 years or older. We investigated the association between parity and the risk of dementia using logistic regression models that adjusted for age, educational level, hypertension, diabetes mellitus, and cohort, with additional analyses by region and dementia subtype.ResultsAcross all cohorts, grand multiparous (5 or more childbirths) women had a 47% greater risk of dementia than primiparous (1 childbirth) women (odds ratio [OR] = 1.47, 95% confidence interval [CI] = 1.10-1.94), while nulliparous (no childbirth) women and women with 2 to 4 childbirths showed a comparable dementia risk to primiparous women. However, there were differences associated with region and dementia subtype. Compared to women with 1 to 4 childbirths, grand multiparous women showed a higher risk of dementia in Europe (OR = 2.99, 95% CI = 1.38-6.47) and Latin America (OR = 1.49, 95% CI = 1.04-2.12), while nulliparous women showed a higher dementia risk in Asia (OR = 2.15, 95% CI = 1.33-3.47). Grand multiparity was associated with 6.9-fold higher risk of vascular dementia in Europe (OR = 6.86, 95% CI = 1.81-26.08), whereas nulliparity was associated with a higher risk of Alzheimer disease (OR = 1.91, 95% CI 1.07-3.39) and non-Alzheimer non-vascular dementia (OR = 3.47, 95% CI = 1.44-8.35) in Asia.ConclusionParity is associated with women's risk of dementia, though this is not uniform across regions and dementia subtypes.

Published
2020

33. Sex Differences in Poststroke Cognitive Impairment: A Multicenter Study in 2343 Patients With Acute Ischemic Stroke

Author

Exalto, Lieza G., Weaver, Nick A., Kuijf, Hugo J., Aben, Hugo P., Bae, Hee-Joon, Best, Jonathan G., Bordet, Régis, Chen, Christopher P.L.H., van der Giessen, Ruben S., Godefroy, Olivier, Gyanwali, Bibek, Hamilton, Olivia K.L., Hilal, Saima, Huenges Wajer, Irene M.C., Kim, Jonguk, Kappelle, L. Jaap, Kim, Beom Joon, Köhler, Sebastian, de Kort, Paul L.M., Koudstaal, Peter J., Lim, Jae-Sung, Makin, Stephen D.J., Mok, Vincent C.T., van Oostenbrugge, Robert J., Roussel, Martine, Staals, Julie, Valdés-Hernández, Maria del C., Venketasubramanian, Narayanaswamy, Verhey, Frans R.J., Wardlaw, Joanna M., Werring, David J., Xu, Xin, van Zandvoort, Martine J.E., Biesbroek, J. Matthijs, Chappell, Francesca M., and Biessels, Geert Jan

Published
2023
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35. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author

Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., and Philippe, Christophe

Published
2023
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36. How many rare diseases are there?

Author

Haendel, Melissa, Vasilevsky, Nicole, Unni, Deepak, Bologa, Cristian, Harris, Nomi, Rehm, Heidi, Hamosh, Ada, Baynam, Gareth, Groza, Tudor, McMurry, Julie, Dawkins, Hugh, Rath, Ana, Thaxton, Courtney, Bocci, Giovanni, Joachimiak, Marcin P, Köhler, Sebastian, Robinson, Peter N, Mungall, Chris, and Oprea, Tudor I

Subjects
Humans, Rare Diseases, Phenotype, Pediatric, Biological Sciences, Medical and Health Sciences, Pharmacology & Pharmacy
Abstract

A lack of robust knowledge of the number of rare diseases and the number of people affected by them limits the development of approaches to ameliorate the substantial cumulative burden of rare diseases. Here, we call for coordinated efforts to more precisely define rare diseases.

Published
2020

37. Investigation of antihypertensive class, dementia, and cognitive decline: A meta-analysis.

Author

Peters, Ruth, Yasar, Sevil, Anderson, Craig S, Andrews, Shea, Antikainen, Riitta, Arima, Hisatomi, Beckett, Nigel, Beer, Joanne C, Bertens, Anne Suzanne, Booth, Andrew, van Boxtel, Martin, Brayne, Carol, Brodaty, Henry, Carlson, Michelle C, Chalmers, John, Corrada, Maria, DeKosky, Steven, Derby, Carol, Dixon, Roger A, Forette, Françoise, Ganguli, Mary, van Gool, Willem A, Guaita, Antonio, Hever, Ann M, Hogan, David B, Jagger, Carol, Katz, Mindy, Kawas, Claudia, Kehoe, Patrick G, Keinanen-Kiukaanniemi, Sirkka, Kenny, Rose Ann, Köhler, Sebastian, Kunutsor, Setor K, Laukkanen, Jari, Maxwell, Colleen, McFall, G Peggy, van Middelaar, Tessa, Moll van Charante, Eric P, Ng, Tze-Pin, Peters, Jean, Rawtaer, Iris, Richard, Edo, Rockwood, Kenneth, Rydén, Lina, Sachdev, Perminder S, Skoog, Ingmar, Skoog, Johan, Staessen, Jan A, Stephan, Blossom CM, Sebert, Sylvain, Thijs, Lutgarde, Trompet, Stella, Tully, Phillip J, Tzourio, Christophe, Vaccaro, Roberta, Vaaramo, Eeva, Walsh, Erin, Warwick, Jane, and Anstey, Kaarin J

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Neurodegenerative, Acquired Cognitive Impairment, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Clinical Trials and Supportive Activities, Aging, Brain Disorders, Clinical Research, Cardiovascular, Dementia, Alzheimer's Disease, Prevention, Neurological, Aged, Aged, 80 and over, Antihypertensive Agents, Cognitive Dysfunction, Female, Humans, Hypertension, Male, Middle Aged, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveHigh blood pressure is one of the main modifiable risk factors for dementia. However, there is conflicting evidence regarding the best antihypertensive class for optimizing cognition. Our objective was to determine whether any particular antihypertensive class was associated with a reduced risk of cognitive decline or dementia using comprehensive meta-analysis including reanalysis of original participant data.MethodsTo identify suitable studies, MEDLINE, Embase, and PsycINFO and preexisting study consortia were searched from inception to December 2017. Authors of prospective longitudinal human studies or trials of antihypertensives were contacted for data sharing and collaboration. Outcome measures were incident dementia or incident cognitive decline (classified using the reliable change index method). Data were separated into mid and late-life (>65 years) and each antihypertensive class was compared to no treatment and to treatment with other antihypertensives. Meta-analysis was used to synthesize data.ResultsOver 50,000 participants from 27 studies were included. Among those aged >65 years, with the exception of diuretics, we found no relationship by class with incident cognitive decline or dementia. Diuretic use was suggestive of benefit in some analyses but results were not consistent across follow-up time, comparator group, and outcome. Limited data precluded meaningful analyses in those ≤65 years of age.ConclusionOur findings, drawn from the current evidence base, support clinical freedom in the selection of antihypertensive regimens to achieve blood pressure goals.Clinical trials registrationThe review was registered with the international prospective register of systematic reviews (PROSPERO), registration number CRD42016045454.

Published
2020

38. The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

Author

Shefchek, Kent A, Harris, Nomi L, Gargano, Michael, Matentzoglu, Nicolas, Unni, Deepak, Brush, Matthew, Keith, Daniel, Conlin, Tom, Vasilevsky, Nicole, Zhang, Xingmin Aaron, Balhoff, James P, Babb, Larry, Bello, Susan M, Blau, Hannah, Bradford, Yvonne, Carbon, Seth, Carmody, Leigh, Chan, Lauren E, Cipriani, Valentina, Cuzick, Alayne, Rocca, Maria D, Dunn, Nathan, Essaid, Shahim, Fey, Petra, Grove, Chris, Gourdine, Jean-Phillipe, Hamosh, Ada, Harris, Midori, Helbig, Ingo, Hoatlin, Maureen, Joachimiak, Marcin, Jupp, Simon, Lett, Kenneth B, Lewis, Suzanna E, McNamara, Craig, Pendlington, Zoë M, Pilgrim, Clare, Putman, Tim, Ravanmehr, Vida, Reese, Justin, Riggs, Erin, Robb, Sofia, Roncaglia, Paola, Seager, James, Segerdell, Erik, Similuk, Morgan, Storm, Andrea L, Thaxon, Courtney, Thessen, Anne, Jacobsen, Julius OB, McMurry, Julie A, Groza, Tudor, Köhler, Sebastian, Smedley, Damian, Robinson, Peter N, Mungall, Christopher J, Haendel, Melissa A, Munoz-Torres, Monica C, and Osumi-Sutherland, David

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Networking and Information Technology R&D (NITRD), 2.1 Biological and endogenous factors, Generic health relevance, Good Health and Well Being, Algorithms, Animals, Biological Ontologies, Computational Biology, Databases, Genetic, Exome, Genetic Association Studies, Genetic Variation, Genomics, Genotype, Humans, Internet, Phenotype, Software, Translational Research, Biomedical, User-Computer Interface, Environmental Sciences, Information and Computing Sciences, Developmental Biology, Biological sciences, Chemical sciences, Environmental sciences
Abstract

In biology and biomedicine, relating phenotypic outcomes with genetic variation and environmental factors remains a challenge: patient phenotypes may not match known diseases, candidate variants may be in genes that haven't been characterized, research organisms may not recapitulate human or veterinary diseases, environmental factors affecting disease outcomes are unknown or undocumented, and many resources must be queried to find potentially significant phenotypic associations. The Monarch Initiative (https://monarchinitiative.org) integrates information on genes, variants, genotypes, phenotypes and diseases in a variety of species, and allows powerful ontology-based search. We develop many widely adopted ontologies that together enable sophisticated computational analysis, mechanistic discovery and diagnostics of Mendelian diseases. Our algorithms and tools are widely used to identify animal models of human disease through phenotypic similarity, for differential diagnostics and to facilitate translational research. Launched in 2015, Monarch has grown with regards to data (new organisms, more sources, better modeling); new API and standards; ontologies (new Mondo unified disease ontology, improvements to ontologies such as HPO and uPheno); user interface (a redesigned website); and community development. Monarch data, algorithms and tools are being used and extended by resources such as GA4GH and NCATS Translator, among others, to aid mechanistic discovery and diagnostics.

Published
2020

39. Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics

Author

Köhler, Sebastian, Øien, N Christine, Buske, Orion J, Groza, Tudor, Jacobsen, Julius OB, McNamara, Craig, Vasilevsky, Nicole, Carmody, Leigh C, Gourdine, JP, Gargano, Michael, McMurry, Julie A, Danis, Daniel, Mungall, Christopher J, Smedley, Damian, Haendel, Melissa, and Robinson, Peter N

Subjects
Human Genome, Clinical Research, Genetics, Networking and Information Technology R&D (NITRD), 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Biological Ontologies, Computational Biology, Databases, Genetic, Diagnosis, Differential, Exome, Genetic Diseases, Inborn, Humans, Phenotype, Software, Whole Genome Sequencing, HPO, Human Phenotype Ontology, differential diagnosis, exome, phenotype, Genetics & Heredity
Abstract

The Human Phenotype Ontology (HPO) is a standardized set of phenotypic terms that are organized in a hierarchical fashion. It is a widely used resource for capturing human disease phenotypes for computational analysis to support differential diagnostics. The HPO is frequently used to create a set of terms that accurately describe the observed clinical abnormalities of an individual being evaluated for suspected rare genetic disease. This profile is compared with computational disease profiles in the HPO database with the aim of identifying genetic diseases with comparable phenotypic profiles. The computational analysis can be coupled with the analysis of whole-exome or whole-genome sequencing data through applications such as Exomiser. This article explains how to choose an optimal set of HPO terms for these cases and enter them with software, such as PhenoTips and PatientArchive, and demonstrates how to use Phenomizer and Exomiser to generate a computational differential diagnosis. © 2019 by John Wiley & Sons, Inc.

Published
2019

42. Retinal microvascular function and incidence and trajectories of clinically relevant depressive symptoms: the Maastricht Study

Author

van Gennip, April C. E., primary, Gupta, Monideepa D., additional, Houben, Alfons J. H. M., additional, Berendschot, Tos T. J. M., additional, Webers, Carroll A. B., additional, van Greevenbroek, Marleen M. J., additional, van der Kallen, Carla J. H., additional, Koster, Annemarie, additional, Wesselius, Anke, additional, Eussen, Simone J. P. M., additional, Schalkwijk, Casper G., additional, de Galan, Bastiaan E., additional, Köhler, Sebastian, additional, Schram, Miranda T., additional, Stehouwer, Coen D. A., additional, and van Sloten, Thomas T., additional

Published
2024
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43. Health burden in type 2 diabetes and prediabetes in The Maastricht Study

Author

Veugen, Marja G. J., Onete, Veronica G., Henry, Ronald M. A., Brunner-La Rocca, Hans-Peter, Koster, Annemarie, Dagnelie, Pieter C., Schaper, Nicolaas C., Sep, Simone J. S., van der Kallen, Carla J. H., van Boxtel, Martin P. J., Reesink, Koen D., Schouten, Johannes S., Savelberg, Hans H. C. M., Köhler, Sebastian, Verhey, Frans R., van den Bergh, Joop P. W., Schram, Miranda T., and Stehouwer, Coen D. A.

Published
2022
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46. Circulating N-Acetylaspartate does not track brain NAA concentrations, cognitive function or features of small vessel disease in humans

Author

Rebelos, Eleni, Daniele, Giuseppe, Campi, Beatrice, Saba, Alessandro, Koskensalo, Kalle, Ihalainen, Jukka, Saukko, Ekaterina, Nuutila, Pirjo, Backes, Walter H., Jansen, Jacobus F. A., Dagnelie, Pieter C., Köhler, Sebastian, de Galan, Bastiaan E., van Sloten, Thomas T., Stehouwer, Coen D. A., and Ferrannini, Ele

Published
2022
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47. Intentions of Vulnerable Road Users - Detection and Forecasting by Means of Machine Learning

Author

Goldhammer, Michael, Köhler, Sebastian, Zernetsch, Stefan, Doll, Konrad, Sick, Bernhard, and Dietmayer, Klaus

Subjects
Computer Science - Computer Vision and Pattern Recognition
Abstract

Avoiding collisions with vulnerable road users (VRUs) using sensor-based early recognition of critical situations is one of the manifold opportunities provided by the current development in the field of intelligent vehicles. As especially pedestrians and cyclists are very agile and have a variety of movement options, modeling their behavior in traffic scenes is a challenging task. In this article we propose movement models based on machine learning methods, in particular artificial neural networks, in order to classify the current motion state and to predict the future trajectory of VRUs. Both model types are also combined to enable the application of specifically trained motion predictors based on a continuously updated pseudo probabilistic state classification. Furthermore, the architecture is used to evaluate motion-specific physical models for starting and stopping and video-based pedestrian motion classification. A comprehensive dataset consisting of 1068 pedestrian and 494 cyclist scenes acquired at an urban intersection is used for optimization, training, and evaluation of the different models. The results show substantial higher classification rates and the ability to earlier recognize motion state changes with the machine learning approaches compared to interacting multiple model (IMM) Kalman Filtering. The trajectory prediction quality is also improved for all kinds of test scenes, especially when starting and stopping motions are included. Here, 37\% and 41\% lower position errors were achieved on average, respectively.

Published
2018

48. Effects of Disorder on the Pressure-Induced Mott Transition in $\kappa$-BEDT-TTF)$_2$Cu[N(CN)$_2$]Cl

Author

Gati, Elena, Tutsch, Ulrich, Naji, Ammar, Garst, Markus, Köhler, Sebastian, Schubert, Harald, Sasaki, Takahiko, and Lang, Michael

Subjects
Condensed Matter - Strongly Correlated Electrons
Abstract

We present a study of the influence of disorder on the Mott metal-insulator transition for the organic charge-transfer salt $\kappa$-(BEDT-TTF)$_2$Cu[N(CN)$_2$]Cl. To this end, disorder was introduced into the system in a controlled way by exposing the single crystals to x-ray irradiation. The crystals were then fine-tuned across the Mott transition by the application of continuously controllable He-gas pressure at low temperatures. Measurements of the thermal expansion and resistance show that the first-order character of the Mott transition prevails for low irradiation doses achieved by irradiation times up to 100 h. For these crystals with a moderate degree of disorder, we find a first-order transition line which ends in a second-order critical endpoint, akin to the pristine crystals. Compared to the latter, however, we observe a significant reduction of both, the critical pressure $p_c$ and the critical temperature $T_c$. This result is consistent with the theoretically-predicted formation of a soft Coulomb gap in the presence of strong correlations and small disorder. Furthermore, we demonstrate, similar to the observation for the pristine sample, that the Mott transition after 50 h of irradiation is accompanied by sizable lattice effects, the critical behavior of which can be well described by mean-field theory. Our results demonstrate that the character of the Mott transition remains essentially unchanged at a low disorder level. However, after an irradiation time of 150 h, no clear signatures of a discontinuous metal-insulator transition could be revealed anymore. These results suggest that, above a certain disorder level, the metal-insulator transition becomes a smeared first-order transition with some residual hysteresis., Comment: 20 pages, 7 figures, appeared in the Special Issue "Advances in Organic Conductors and Superconductors" of Crystals

Published
2017
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49. Evidence for electronically-driven ferroelectricity in the family of strongly correlated dimerized BEDT-TTF molecular conductors

Author

Gati, Elena, Fischer, Jonas K. H., Lunkenheimer, Peter, Zielke, David, Köhler, Sebastian, Kolb, Felizitas, von Nidda, Hans-Albrecht Krug, Winter, Stephen M., Schubert, Harald, Schlueter, John A., Jeschke, Harald O., Valenti, Roser, and Lang, Michael

Subjects
Condensed Matter - Strongly Correlated Electrons
Abstract

By applying measurements of the dielectric constants and relative length changes to the dimerized molecular conductor $\kappa$-(BEDT-TTF)$_2$Hg(SCN)$_2$Cl, we provide evidence for order-disorder type electronic ferroelectricity which is driven by charge order within the (BEDT-TTF)$_2$ dimers and stabilized by a coupling to the anions. According to our density functional theory calculations, this material is characterized by a moderate strength of dimerization. This system thus bridges the gap between strongly dimerized materials, often approximated as dimer-Mott systems at 1/2 filling, and non- or weakly dimerized systems at 1/4 filling exhibiting charge order. Our results indicate that intra-dimer charge degrees of freedom are of particular importance in correlated $\kappa$-(BEDT-TTF)$_2$X salts and can create novel states, such as electronically-driven multiferroicity or charge-order-induced quasi-1D spin liquids., Comment: 6 pages, 4 figures + Supplementary Information (8 pages, 8 figures)

Published
2017
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50. Determinants of cognitive performance and decline in 20 diverse ethno-regional groups: A COSMIC collaboration cohort study.

Author

Lipnicki, Darren M, Makkar, Steve R, Crawford, John D, Thalamuthu, Anbupalam, Kochan, Nicole A, Lima-Costa, Maria Fernanda, Castro-Costa, Erico, Ferri, Cleusa Pinheiro, Brayne, Carol, Stephan, Blossom, Llibre-Rodriguez, Juan J, Llibre-Guerra, Jorge J, Valhuerdi-Cepero, Adolfo J, Lipton, Richard B, Katz, Mindy J, Derby, Carol A, Ritchie, Karen, Ancelin, Marie-Laure, Carrière, Isabelle, Scarmeas, Nikolaos, Yannakoulia, Mary, Hadjigeorgiou, Georgios M, Lam, Linda, Chan, Wai-Chi, Fung, Ada, Guaita, Antonio, Vaccaro, Roberta, Davin, Annalisa, Kim, Ki Woong, Han, Ji Won, Suh, Seung Wan, Riedel-Heller, Steffi G, Roehr, Susanne, Pabst, Alexander, van Boxtel, Martin, Köhler, Sebastian, Deckers, Kay, Ganguli, Mary, Jacobsen, Erin P, Hughes, Tiffany F, Anstey, Kaarin J, Cherbuin, Nicolas, Haan, Mary N, Aiello, Allison E, Dang, Kristina, Kumagai, Shuzo, Chen, Tao, Narazaki, Kenji, Ng, Tze Pin, Gao, Qi, Nyunt, Ma Shwe Zin, Scazufca, Marcia, Brodaty, Henry, Numbers, Katya, Trollor, Julian N, Meguro, Kenichi, Yamaguchi, Satoshi, Ishii, Hiroshi, Lobo, Antonio, Lopez-Anton, Raul, Santabárbara, Javier, Leung, Yvonne, Lo, Jessica W, Popovic, Gordana, Sachdev, Perminder S, and for Cohort Studies of Memory in an International Consortium (COSMIC)

Subjects
for Cohort Studies of Memory in an International Consortium, Humans, Diabetes Mellitus, Exercise, Risk Assessment, Risk Factors, Smoking, Cognition, Age Factors, Comorbidity, Health Education, Aged, Aged, 80 and over, Middle Aged, Ethnic Groups, Female, Male, Stroke, Cognitive Dysfunction, and over, General & Internal Medicine, Medical and Health Sciences
Abstract

BackgroundWith no effective treatments for cognitive decline or dementia, improving the evidence base for modifiable risk factors is a research priority. This study investigated associations between risk factors and late-life cognitive decline on a global scale, including comparisons between ethno-regional groups.Methods and findingsWe harmonized longitudinal data from 20 population-based cohorts from 15 countries over 5 continents, including 48,522 individuals (58.4% women) aged 54-105 (mean = 72.7) years and without dementia at baseline. Studies had 2-15 years of follow-up. The risk factors investigated were age, sex, education, alcohol consumption, anxiety, apolipoprotein E ε4 allele (APOE*4) status, atrial fibrillation, blood pressure and pulse pressure, body mass index, cardiovascular disease, depression, diabetes, self-rated health, high cholesterol, hypertension, peripheral vascular disease, physical activity, smoking, and history of stroke. Associations with risk factors were determined for a global cognitive composite outcome (memory, language, processing speed, and executive functioning tests) and Mini-Mental State Examination score. Individual participant data meta-analyses of multivariable linear mixed model results pooled across cohorts revealed that for at least 1 cognitive outcome, age (B = -0.1, SE = 0.01), APOE*4 carriage (B = -0.31, SE = 0.11), depression (B = -0.11, SE = 0.06), diabetes (B = -0.23, SE = 0.10), current smoking (B = -0.20, SE = 0.08), and history of stroke (B = -0.22, SE = 0.09) were independently associated with poorer cognitive performance (p < 0.05 for all), and higher levels of education (B = 0.12, SE = 0.02) and vigorous physical activity (B = 0.17, SE = 0.06) were associated with better performance (p < 0.01 for both). Age (B = -0.07, SE = 0.01), APOE*4 carriage (B = -0.41, SE = 0.18), and diabetes (B = -0.18, SE = 0.10) were independently associated with faster cognitive decline (p < 0.05 for all). Different effects between Asian people and white people included stronger associations for Asian people between ever smoking and poorer cognition (group by risk factor interaction: B = -0.24, SE = 0.12), and between diabetes and cognitive decline (B = -0.66, SE = 0.27; p < 0.05 for both). Limitations of our study include a loss or distortion of risk factor data with harmonization, and not investigating factors at midlife.ConclusionsThese results suggest that education, smoking, physical activity, diabetes, and stroke are all modifiable factors associated with cognitive decline. If these factors are determined to be causal, controlling them could minimize worldwide levels of cognitive decline. However, any global prevention strategy may need to consider ethno-regional differences.

Published
2019

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