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1,034 results on '"Macek, M"'

2. Effect of boundary conditions in turbulent thermal convection

Author

Urban, P., Králík, T., Macek, M., Hanzelka, P., and Skrbek, T. Věžník \and L.

Subjects
Physics - Fluid Dynamics
Abstract

We report an experimental study aiming to clarify the role of boundary conditions (BC) in high Rayleigh number $10^8 < {\rm{Ra}} < 3 \times 10^{12}$ turbulent thermal convection of cryogenic helium gas. We switch between BC closer to constant heat flux (CF) and constant temperature (CT) applied to the highly conducting bottom plate of the aspect ratio one cylindrical cell 30 cm in size, leading to dramatic changes in the temperature probability density function and in power spectral density of the temperature fluctuations measured at the bottom plate, while the dynamic thermal behaviour of the top plate and bulk convective flow remain unaffected. Within our experimental accuracy, we find no appreciable changes in Reynolds number Re(Ra) scaling, in the dimensionless heat transfer efficiency expressed via Nusselt number Nu(Ra) scaling, nor in the rate of direction reversals of large scale circulation., Comment: 7 pages, 7 figures

Published
2021
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7. Symmetry Remnants in the Face of Competing Interactions in Nuclei

Author

Leviatan, A. and Macek, M.

Subjects
Nuclear Theory, Nonlinear Sciences - Chaotic Dynamics, Quantum Physics
Abstract

Detailed description of nuclei necessitates model Hamiltonians which break most dynamical symmetries. Nevertheless, generalized notions of partial and quasi dynamical symmetries may still be applicable to selected subsets of states, amidst a complicated environment of other states. We examine such scenarios in the context of nuclear shape-phase transitions., Comment: 4 pages, 2 figures, Proc. Int. Conf. on "Nuclear Structure and Dynamics III", June 14-19, 2015, Portoroz, Slovenia

Published
2015
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8. First-order quantum phase transitions: test ground for emergent chaoticity, regularity and persisting symmetries

Author

Macek, M. and Leviatan, A.

Subjects
Nuclear Theory, Nonlinear Sciences - Chaotic Dynamics, Quantum Physics
Abstract

We present a comprehensive analysis of the emerging order and chaos and enduring symmetries, accompanying a generic (high-barrier) first-order quantum phase transition (QPT). The interacting boson model Hamiltonian employed, describes a QPT between spherical and deformed shapes, associated with its U(5) and SU(3) dynamical symmetry limits. A classical analysis of the intrinsic dynamics reveals a rich but simply-divided phase space structure with a H\'enon-Heiles type of chaotic dynamics ascribed to the spherical minimum and a robustly regular dynamics ascribed to the deformed minimum. The simple pattern of mixed but well-separated dynamics persists in the coexistence region and traces the crossing of the two minima in the Landau potential. A quantum analysis discloses a number of regular low-energy U(5)-like multiplets in the spherical region, and regular SU(3)-like rotational bands extending to high energies and angular momenta, in the deformed region. These two kinds of regular subsets of states retain their identity amidst a complicated environment of other states and both occur in the coexistence region. A symmetry analysis of their wave functions shows that they are associated with partial U(5) dynamical symmetry (PDS) and SU(3) quasi-dynamical symmetry (QDS), respectively. The pattern of mixed but well-separated dynamics and the PDS or QDS characterization of the remaining regularity, appear to be robust throughout the QPT. Effects of kinetic collective rotational terms, which may disrupt this simple pattern, are considered., Comment: 76 pages, 35 figures. Final version, Annals of Physics, in press

Published
2014
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9. Order, Chaos and Quasi Symmetries in a First-Order Quantum Phase Transition

Author

Leviatan, A. and Macek, M.

Subjects
Nuclear Theory, Nonlinear Sciences - Chaotic Dynamics, Quantum Physics
Abstract

We study the competing order and chaos in a first-order quantum phase transition with a high barrier. The boson model Hamiltonian employed, interpolates between its U(5) (spherical) and SU(3) (deformed) limits. A classical analysis reveals regular (chaotic) dynamics at low (higher) energy in the spherical region, coexisting with a robustly regular dynamics in the deformed region. A quantum analysis discloses, amidst a complicated environment, persisting regular multiplets of states associated with partial U(5) and quasi SU(3) dynamical symmetries., Comment: 16 pages, 7 figures, talk at Symposium "Symmetries in Science XVI", July 21 - 26, 2013, Bregenz, Austria. Higher quality (larger size) figures can be obtained from http://www-ucjf.troja.mff.cuni.cz/~geometric/Figs2-3-4_HighRes.zip

Published
2014
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10. Interplay of order and chaos across a first-order quantum shape-phase transition in nuclei

Author

Leviatan, A. and Macek, M.

Subjects
Nuclear Theory, Nonlinear Sciences - Chaotic Dynamics, Quantum Physics
Abstract

We study the nature of the dynamics in a first-order quantum phase transition between spherical and prolate-deformed nuclear shapes. Classical and quantum analyses reveal a change in the system from a chaotic H\'enon-Heiles behavior on the spherical side into a pronounced regular dynamics on the deformed side. Both order and chaos persist in the coexistence region and their interplay reflects the Landau potential landscape and the impact of collective rotations., Comment: 4 pages, 2 figures, Proc. Int. Conf. on "Nuclear Structure and Dynamics II", July 9-13, 2012, Opatija, Croatia. Higher quality (larger size) figures can be obtained from http://www-ucjf.troja.mff.cuni.cz/~geometric/PLB-Figs2-3.zip

Published
2012
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11. Regular and chaotic classical dynamics in the U(5)-SU(3) quantum phase transition of the IBM

Author

Macek, M. and Leviatan, A.

Subjects
Nuclear Theory, Nonlinear Sciences - Chaotic Dynamics, Quantum Physics
Abstract

We study the classical dynamics in a generic first-order quantum phase transition between the U(5) and SU(3) limits of the interacting boson model. The dynamics is chaotic, of H\'enon-Heiles type, in the spherical phase and is regular, yet sensitive to local degeneracies, in the deformed phase. Both types of dynamics persist in the coexistence region resulting in a divided phase space., Comment: 4 pages, 2 figures, Proc. Beauty in Physics: Theory and Experiment, in honor of Francesco Iachello's 70th birthday, May 14-18, 2012, Cocoyoc, Mexico

Published
2012
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12. Evolution of order and chaos across a first-order quantum phase transition

Author

Leviatan, A. and Macek, M.

Subjects
Nuclear Theory, Nonlinear Sciences - Chaotic Dynamics, Quantum Physics
Abstract

We study the evolution of the dynamics across a generic first order quantum phase transition in an interacting boson model of nuclei. The dynamics inside the phase coexistence region exhibits a very simple pattern. A classical analysis reveals a robustly regular dynamics confined to the deformed region and well separated from a chaotic dynamics ascribed to the spherical region. A quantum analysis discloses regular bands of states in the deformed region, which persist to energies well above the phase-separating barrier, in the face of a complicated environment. The impact of kinetic collective rotational terms on this intricate interplay of order and chaos is investigated., Comment: 5 pages, 4 figures, Physics Letters B, in press. Higher quality (larger size) figures can be obtained from http://www-ucjf.troja.mff.cuni.cz/~geometric/PLB-Figs2-3.zip

Published
2012
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13. Coexistence of order and chaos at critical points of first-order quantum phase transitions in nuclei

Author

Macek, M. and Leviatan, A.

Subjects
Nuclear Theory
Abstract

We study the interplay between ordered and chaotic dynamics at the critical point of a generic first-order quantum phase transition in the interacting boson model of nuclei. Classical and quantum analyses reveal a distinct behavior of the coexisting phases. While the dynamics in the deformed phase is robustly regular, the spherical phase shows strongly chaotic behavior in the same energy intervals. The effect of collective rotations on the dynamics is investigated., Comment: 4 pages, 2 figures, Proc. 14th Int. Symposium on Capture Gamma-Ray Spectroscopy and Related Topics (CGS14), August 28 - September 2, 2011, University of Guelph, Canada

Published
2011

14. Regularity and chaos at critical points of first-order quantum phase transitions

Author

Macek, M. and Leviatan, A.

Subjects
Nuclear Theory, Nonlinear Sciences - Chaotic Dynamics, Quantum Physics
Abstract

We study the interplay between regular and chaotic dynamics at the critical point of a generic first-order quantum phase transition in an interacting boson model of nuclei. A classical analysis reveals a distinct behavior of the coexisting phases in a broad energy range. The dynamics is completely regular in the deformed phase and, simultaneously, strongly chaotic in the spherical phase. A quantum analysis of the spectra separates the regular states from the irregular ones, assigns them to particular phases, and discloses persisting regular rotational bands in the deformed region., Comment: 5 pages, 3 figures, published version, Phys. Rev. C

Published
2011
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15. Coulomb analogy for nonhermitian degeneracies near quantum phase transitions

Author

Cejnar, P., Heinze, S., and Macek, M.

Subjects
Quantum Physics, Mathematical Physics, Nuclear Theory
Abstract

Degeneracies near the real axis in a complex-extended parameter space of a hermitian Hamiltonian are studied. We present a method to measure distributions of such degeneracies on the Riemann sheet of a selected level and apply it in classification of quantum phase transitions. The degeneracies are shown to behave similarly as complex zeros of a partition function., Comment: 4 pages

Published
2007
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21. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author

Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y., Unión Europea. Comisión Europea. H2020, Unión Europea. Comisión Europea. 7 Programa Marco, Instituto de Salud Carlos III, Instituto Nacional de Bioinformatica (España), Ministry of Health (República Checa), Ministry of Education, Youth and Sports (República Checa), Denomme-Pichon, A. -S., Bruel, A. -L., Duffourd, Y., Safraou, H., Thauvin-Robinet, C., Tran Mau-Them, F., Philippe, C., Vitobello, A., Jean-Marcais, N., Moutton, S., Thevenon, J., Faivre, L., Matalonga, L., de Boer, E., Gilissen, C., Hoischen, A., Kleefstra, T., Pfundt, R., de Vries, B. B. A., Willemsen, M. H., Vissers, L. E. L. M., Jackson, A., Banka, S., Clayton-Smith, J., Benetti, E., Fallerini, C., Renieri, A., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Ellwanger, K., Graessner, H., Haack, T. B., Zurek, B., Havlovicova, M., Macek, M., Ryba, L., Schwarz, M., Votypka, P., Lopez-Martin, E., Posada, M., Mencarelli, M. A., Rooryck, C., Trimouille, A., Verloes, A., Abbott, K. M., Kerstjens, M., Martin, E. L., Maystadt, I., Morleo, M., Nigro, V., Pinelli, M., Riess, O., Agathe, J. -M. D. S., Santen, G. W. E., Thauvin, C., Torella, A., Vissers, L., Zguro, K., Boer, E. D., Cohen, E., Danis, D., Gao, F., Horvath, R., Johari, M., Johanson, L., Li, S., Morsy, H., Nelson, I., Paramonov, I., te Paske, I. B. A. W., Robinson, P., Savarese, M., Steyaert, W., Topf, A., van der Velde, J. K., Vandrovcova, J., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Schule, R., Xu, J., Kessler, C., Wayand, M., Synofzik, M., Wilke, C., Traschutz, A., Schols, L., Hengel, H., Lerche, H., Kegele, J., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., 't Hoen, P. A. C., Sablauskas, K., de Voer, R. M., Kamsteeg, E. -J., van de Warrenburg, B., van Os, N., Paske, I. T., Janssen, E., Steehouwer, M., Yaldiz, B., Brookes, A. J., Veal, C., Gibson, S., Maddi, V., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Straub, V., Bettolo, C. M., Manera, J. D., Hambleton, S., Engelhardt, K., Alexander, E., Peyron, C., Pelissier, A., Beltran, S., Gut, I. G., Laurie, S., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Fernandez-Callejo, M., Hernandez, C., Pico, D., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Lagorce, D., Hongnat, O., Chahdil, M., Lebreton, E., Stevanin, G., Durr, A., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Ben Yaou, R., Metay, C., Eymard, B., Atalaia, A., Stojkovic, T., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Liskova, P., Dolezalova, P., Parkinson, H., Keane, T., Freeberg, M., Thomas, C., Spalding, D., Robert, G., Costa, A., Patch, C., Hanna, M., Houlden, H., Reilly, M., Efthymiou, S., Cali, E., Magrinelli, F., Sisodiya, S. M., Rohrer, J., Muntoni, F., Zaharieva, I., Sarkozy, A., Timmerman, V., Baets, J., de Vries, G., De Winter, J., Beijer, D., de Jonghe, P., Van de Vondel, L., De Ridder, W., Weckhuysen, S., Mutarelli, M., Varavallo, A., Banfi, S., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Gualandi, F., Bigoni, S., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Vries, G., Neerincx, P. B., Ruvolo, D., Kerstjens Frederikse, W. S., Zonneveld-Huijssoon, E., Roelofs-Prins, D., van Gijn, M., Kohler, S., Metcalfe, A., Drunat, S., Heron, D., Mignot, C., Keren, B., Lacombe, D., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Cilio, M. -R., Carpancea, E., Depondt, C., Lederer, D., Sznajer, Y., Duerinckx, S., Mary, S., Macaya, A., Cazurro-Gutierrez, A., Perez-Duenas, B., Munell, F., Jarava, C. F., Maso, L. B., Marce-Grau, A., Colobran, R., Hackman, P., Udd, B., Hemelsoet, D., Dermaut, B., Schuermans, N., Poppe, B., Verdin, H., Osorio, A. N., Depienne, C., Roos, A., Cordts, I., Deschauer, M., Striano, P., Zara, F., Riva, A., Iacomino, M., Uva, P., Scala, M., Scudieri, P., Basak, A. N., Claeys, K., Boztug, K., Haimel, M., W. E, G., Ruivenkamp, C. A. L., Natera de Benito, D., Thompson, R., Polavarapu, K., Grimbacher, B., Zaganas, I., Kokosali, E., Lambros, M., Evangeliou, A., Spilioti, M., Kapaki, E., Bourbouli, M., Balicza, P., Molnar, M. J., De la Paz, M. P., Sanchez, E. B., Delgado, B. M., Alonso Garcia de la Rosa, F. J., Schrock, E., Rump, A., Mei, D., Vetro, A., Balestrini, S., Guerrini, R., Chinnery, P. F., Ratnaike, T., Schon, K., Maver, A., Peterlin, B., Munchau, A., Lohmann, K., Herzog, R., Pauly, M., May, P., Beeson, D., Cossins, J., Furini, S., Afenjar, A., Goldenberg, A., Masurel, A., Phan, A., Dieux-Coeslier, A., Fargeot, A., Guerrot, A. -M., Toutain, A., Molin, A., Sorlin, A., Putoux, A., Jouret, B., Laudier, B., Demeer, B., Doray, B., Bonniaud, B., Isidor, B., Gilbert-Dussardier, B., Leheup, B., Reversade, B., Paul, C., Vincent-Delorme, C., Neiva, C., Poirsier, C., Quelin, C., Chiaverini, C., Coubes, C., Francannet, C., Colson, C., Desplantes, C., Wells, C., Goizet, C., Sanlaville, D., Amram, D., Lehalle, D., Genevieve, D., Gaillard, D., Zivi, E., Sarrazin, E., Steichen, E., Schaefer, E., Lacaze, E., Jacquemin, E., Bongers, E., Kilic, E., Colin, E., Giuliano, F., Prieur, F., Laffargue, F., Morice-Picard, F., Petit, F., Cartault, F., Feillet, F., Baujat, G., Morin, G., Diene, G., Journel, H., Perthus, I., Lespinasse, J., Alessandri, J. -L., Amiel, J., Martinovic, J., Delanne, J., Albuisson, J., Lambert, L., Perrin, L., Ousager, L. B., Van Maldergem, L., Pinson, L., Ruaud, L., Samimi, M., Bournez, M., Bonnet-Dupeyron, M. N., Vincent, M., Jacquemont, M. -L., Cordier-Alex, M. -P., Gerard-Blanluet, M., Willems, M., Spodenkiewicz, M., Doco-Fenzy, M., Rossi, M., Renaud, M., Fradin, M., Mathieu, M., Holder-Espinasse, M. H., Houcinat, N., Hanna, N., Leperrier, N., Chassaing, N., Philip, N., Boute, O., Van Kien, P. K., Parent, P., Bitoun, P., Sarda, P., Vabres, P., Jouk, P. -S., Touraine, R., El Chehadeh, S., Whalen, S., Marlin, S., Passemard, S., Grotto, S., Bellanger, S. A., Blesson, S., Nambot, S., Naudion, S., Lyonnet, S., Odent, S., Attie-Bitach, T., Busa, T., Drouin-Garraud, V., Layet, V., Bizaoui, V., Cusin, V., Capri, Y., Alembik, Y., and Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]

Subjects
Exome reanalysis, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], Developmental disorder, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Biology and Life Sciences, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], ClinVar, Rare diseases, All institutes and research themes of the Radboud University Medical Center, Medicine and Health Sciences, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Multidisciplinary, general & others [D99] [Human health sciences], Exome reanalysi, Genetics (clinical)
Abstract

Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the "ClinVar low-hanging fruit" reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods: Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results: We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion: The "ClinVar low-hanging fruit" analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock. The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement number 779257. Data were analyzed using the RD-Connect Genome-Phenome Analysis Platform, which received funding from the EU projects RD-Connect, Solve-RD, and European Joint Programme on Rare Diseases (grant numbers FP7 305444, H2020 779257, H2020 825575), Instituto de Salud Carlos III (grant numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática), and ELIXIR Implementation Studies. The collaborations in this study were facilitated by the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies, one of the 24 European Reference Networks approved by the European Reference Network Board of Member States, cofunded by the European Commission. This project was supported by the Czech Ministry of Health (number 00064203) and by the Czech Ministry of Education, Youth and Sports (number - LM2018132) to M.M. Sí

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

Author

Denommé-Pichon, A.S., Matalonga, L., Boer, E. de, Jackson, A., Benetti, E., Banka, S., Bruel, A.L., Ciolfi, A., Clayton-Smith, J., Dallapiccola, B., Duffourd, Y., Ellwanger, K., Fallerini, C., Gilissen, C., Graessner, H., Haack, T.B., Havlovicova, M., Hoischen, A., Jean-Marçais, N., Kleefstra, T., López-Martín, E., Macek, M., Mencarelli, M.A., Moutton, S., Pfundt, R.P., Pizzi, S., Posada, M., Radio, F.C., Renieri, A., Rooryck, C., Ryba, L., Safraou, H., Schwarz, M., Tartaglia, M., Thauvin-Robinet, C., Thevenon, J., Tran Mau-Them, F., Trimouille, A., Votypka, P., Vries, B.B.A. de, Willemsen, M.H., Zurek, B., Verloes, A., Philippe, C., Vitobello, A., Vissers, L.E.L.M., Faivre, L., Denommé-Pichon, A.S., Matalonga, L., Boer, E. de, Jackson, A., Benetti, E., Banka, S., Bruel, A.L., Ciolfi, A., Clayton-Smith, J., Dallapiccola, B., Duffourd, Y., Ellwanger, K., Fallerini, C., Gilissen, C., Graessner, H., Haack, T.B., Havlovicova, M., Hoischen, A., Jean-Marçais, N., Kleefstra, T., López-Martín, E., Macek, M., Mencarelli, M.A., Moutton, S., Pfundt, R.P., Pizzi, S., Posada, M., Radio, F.C., Renieri, A., Rooryck, C., Ryba, L., Safraou, H., Schwarz, M., Tartaglia, M., Thauvin-Robinet, C., Thevenon, J., Tran Mau-Them, F., Trimouille, A., Votypka, P., Vries, B.B.A. de, Willemsen, M.H., Zurek, B., Verloes, A., Philippe, C., Vitobello, A., Vissers, L.E.L.M., and Faivre, L.

Abstract

01 april 2023, Item does not contain fulltext, PURPOSE: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the "ClinVar low-hanging fruit" reanalysis, reasons for the failure of previous analyses, and lessons learned. METHODS: Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. RESULTS: We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). CONCLUSION: The "ClinVar low-hanging fruit" analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock.

Published
2023

24. The Influence of the Dispersion Method on the Microstructure and Properties of MWCNTs/AA6061 Composites

Author

Dobrzański L. A., Macek M., Tomiczek B., Nuckowski P. M., and Nowak A. J.

Subjects
nanocomposites, powder metallurgy, mechanical milling, carbon nanotubes, aluminium alloys, Mining engineering. Metallurgy, TN1-997, Materials of engineering and construction. Mechanics of materials, TA401-492
Abstract

The aim of this work was to study the effect of different methods of multi-walled carbon nanotubes (MWCNTs) dispersion, and their influence on the microstructure and properties of aluminium alloy matrix composites produced using the powder metallurgy techniques, such as powder milling/mixing and hot extrusion. The main problem in the manufacturing of nanocomposites is the homogeneous distribution of MWCNTs in the metal matrix. To achieve their proper distribution a high-energy and low-energy mechanical milling, using a planetary ball mill, and mixing, using a turbulent mixer, were applied. Studies have shown that composite materials prepared using milling and extrusion have a much better dispersion of the reinforcing phase, which leads to better mechanical properties of the obtained rods. The low-energy mechanical mixing and mixing using the turbulent mixer neither change the powder morphology nor lead to adequate dispersion of the carbon nanotubes, which directly affects the resulting properties.

Published
2016
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25. Effect of Milling Time on Microstructure and Properties of AA6061/MWCNTS Composite Powders / Wpływ Czasu Mielenia Na Strukturę I Własności Proszk Ów Kompozytowyc H AA6061/MWCNTS

Author

Tomiczek B., Dobrzański L.A., and Macek M.

Subjects
nanocomposites, powder metallurgy, mechanical milling, carbon nanotubes, aluminium alloys, Mining engineering. Metallurgy, TN1-997, Materials of engineering and construction. Mechanics of materials, TA401-492
Abstract

The main purpose of this work is to determine the effect of milling time on microstructure as well as technological properties of aluminium matrix nanocomposites reinforced with multi-walled carbon nanotubes (MWCNTs) using powder metallurgy techniques, including mechanical alloying. The main problem of the study is the agglomeration and uneven distribution of carbon nanotubes in the matrix material and interface reactivity also. In order to reach uniform dispersion of carbon nanotubes in aluminium alloy matrix, 5÷20 h of mechanical milling in the planetary mill was used. It was found that the mechanical milling process has a strong influence on the characteristics of powders, by changing the globular morphology of as-received powder during mechanical milling process to flattened one, due to particle plastic deformation followed by cold welding and fracturing of deformed and hardened enough particles, which allows to obtain equiaxial particles again. The obtained composites are characterised by the structure of evenly distributed, disperse reinforcing particles in fine grain matrix of AA6061, facilitate the obtainment of higher values of mechanical properties, compared to the initial alloy. On the basis of micro-hardness, analysis has found that a small addition of carbon nanotubes increases nanocomposite hardness.

Published
2015
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26. WS08.01 The changing epidemiology of cystic fibrosis in Europe from 2010 to 2019: data from the European Cystic Fibrosis Society Patient Registry

Author

Hatziagorou, E., primary, Orenti, A., additional, Naehrlich, L., additional, Rossi, M., additional, Mei-Zahav, M., additional, van Rens, J., additional, Zolin, A., additional, Carr, S., additional, Burgel, P.-R., additional, Daneau, G., additional, Storms, V., additional, Lammertyn, E., additional, Lindblad, A., additional, Macek, M., additional, and Jung, A., additional

Published
2022
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28. Recommendations for whole genome sequencing in diagnostics for rare diseases

Author

Souche, E., Beltran, S., Brosens, E., Belmont, J.W., Fossum, M., Riess, O., Gilissen, C., Ardeshirdavani, A., Houge, G., Gijn, M. van, Clayton-Smith, J., Synofzik, M., Leeuw, N. de, Deans, Z.C., Dincer, Y., Eck, S.H., Crabben, S. van der, Balasubramanian, M., Graessner, H., Sturm, M., Firth, H., Ferlini, A., Nabbout, R., Baere, E. De, Liehr, T., Macek, M., Matthijs, G., Gooyert, J.M. de, Bauer, P., Yntema, H.G., Weiss, M.M., Souche, E., Beltran, S., Brosens, E., Belmont, J.W., Fossum, M., Riess, O., Gilissen, C., Ardeshirdavani, A., Houge, G., Gijn, M. van, Clayton-Smith, J., Synofzik, M., Leeuw, N. de, Deans, Z.C., Dincer, Y., Eck, S.H., Crabben, S. van der, Balasubramanian, M., Graessner, H., Sturm, M., Firth, H., Ferlini, A., Nabbout, R., Baere, E. De, Liehr, T., Macek, M., Matthijs, G., Gooyert, J.M. de, Bauer, P., Yntema, H.G., and Weiss, M.M.

Abstract

Contains fulltext : 282710.pdf (Publisher’s version ) (Open Access), In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGentest in order to assist laboratories in the implementation and accreditation of NGS in a diagnostic setting. These guidelines mainly focused on Whole Exome Sequencing (WES) and targeted (gene panels) sequencing detecting small germline variants (Single Nucleotide Variants (SNVs) and insertions/deletions (indels)). Since then, Whole Genome Sequencing (WGS) has been increasingly introduced in the diagnosis of rare diseases as WGS allows the simultaneous detection of SNVs, Structural Variants (SVs) and other types of variants such as repeat expansions. The use of WGS in diagnostics warrants the re-evaluation and update of previously published guidelines. This work was jointly initiated by EuroGentest and the Horizon2020 project Solve-RD. Statements from the 2016 guidelines have been reviewed in the context of WGS and updated where necessary. The aim of these recommendations is primarily to list the points to consider for clinical (laboratory) geneticists, bioinformaticians, and (non-)geneticists, to provide technical advice, aid clinical decision-making and the reporting of the results.

Published
2022

29. Global maps of soil temperature

Author

Lembrechts, J. J. (Jonas J.), van den Hoogen, J. (Johan), Aalto, J. (Juha), Ashcroft, M. B. (Michael B.), De Frenne, P. (Pieter), Kemppinen, J. (Julia), Kopecky, M. (Martin), Luoto, M. (Miska), Maclean, I. M. (Ilya M. D.), Crowther, T. W. (Thomas W.), Bailey, J. J. (Joseph J.), Haesen, S. (Stef), Klinges, D. H. (David H.), Niittynen, P. (Pekka), Scheffers, B. R. (Brett R.), Van Meerbeek, K. (Koenraad), Aartsma, P. (Peter), Abdalaze, O. (Otar), Abedi, M. (Mehdi), Aerts, R. (Rien), Ahmadian, N. (Negar), Ahrends, A. (Antje), Alatalo, J. M. (Juha M.), Alexander, J. M. (Jake M.), Allonsius, C. N. (Camille Nina), Altman, J. (Jan), Ammann, C. (Christof), Andres, C. (Christian), Andrews, C. (Christopher), Ardo, J. (Jonas), Arriga, N. (Nicola), Arzac, A. (Alberto), Aschero, V. (Valeria), Assis, R. L. (Rafael L.), Assmann, J. J. (Jakob Johann), Bader, M. Y. (Maaike Y.), Bahalkeh, K. (Khadijeh), Barancok, P. (Peter), Barrio, I. C. (Isabel C.), Barros, A. (Agustina), Barthel, M. (Matti), Basham, E. W. (Edmund W.), Bauters, M. (Marijn), Bazzichetto, M. (Manuele), Marchesini, L. B. (Luca Belelli), Bell, M. C. (Michael C.), Benavides, J. C. (Juan C.), Benito Alonso, J. L. (Jose Luis), Berauer, B. J. (Bernd J.), Bjerke, J. W. (Jarle W.), Bjork, R. G. (Robert G.), Bjorkman, M. P. (Mats P.), Bjornsdottir, K. (Katrin), Blonder, B. (Benjamin), Boeckx, P. (Pascal), Boike, J. (Julia), Bokhorst, S. (Stef), Brum, B. N. (Barbara N. S.), Bruna, J. (Josef), Buchmann, N. (Nina), Buysse, P. (Pauline), Camargo, J. L. (Jose Luis), Campoe, O. C. (Otavio C.), Candan, O. (Onur), Canessa, R. (Rafaella), Cannone, N. (Nicoletta), Carbognani, M. (Michele), Carnicer, J. (Jofre), Casanova-Katny, A. (Angelica), Cesarz, S. (Simone), Chojnicki, B. (Bogdan), Choler, P. (Philippe), Chown, S. L. (Steven L.), Cifuentes, E. F. (Edgar F.), Ciliak, M. (Marek), Contador, T. (Tamara), Convey, P. (Peter), Cooper, E. J. (Elisabeth J.), Cremonese, E. (Edoardo), Curasi, S. R. (Salvatore R.), Curtis, R. (Robin), Cutini, M. (Maurizio), Dahlberg, C. J. (C. Johan), Daskalova, G. N. (Gergana N.), Angel de Pablo, M. (Miguel), Della Chiesa, S. (Stefano), Dengler, J. (Juergen), Deronde, B. (Bart), Descombes, P. (Patrice), Di Cecco, V. (Valter), Di Musciano, M. (Michele), Dick, J. (Jan), Dimarco, R. D. (Romina D.), Dolezal, J. (Jiri), Dorrepaal, E. (Ellen), Dusek, J. (Jiri), Eisenhauer, N. (Nico), Eklundh, L. (Lars), Erickson, T. E. (Todd E.), Erschbamer, B. (Brigitta), Eugster, W. (Werner), Ewers, R. M. (Robert M.), Exton, D. A. (Dan A.), Fanin, N. (Nicolas), Fazlioglu, F. (Fatih), Feigenwinter, I. (Iris), Fenu, G. (Giuseppe), Ferlian, O. (Olga), Fernandez Calzado, M. R. (M. Rosa), Fernandez-Pascual, E. (Eduardo), Finckh, M. (Manfred), Higgens, R. F. (Rebecca Finger), Forte, T. G. (T'ai G. W.), Freeman, E. C. (Erika C.), Frei, E. R. (Esther R.), Fuentes-Lillo, E. (Eduardo), Garcia, R. A. (Rafael A.), Garcia, M. B. (Maria B.), Geron, C. (Charly), Gharun, M. (Mana), Ghosn, D. (Dany), Gigauri, K. (Khatuna), Gobin, A. (Anne), Goded, I. (Ignacio), Goeckede, M. (Mathias), Gottschall, F. (Felix), Goulding, K. (Keith), Govaert, S. (Sanne), Graae, B. J. (Bente Jessen), Greenwood, S. (Sarah), Greiser, C. (Caroline), Grelle, A. (Achim), Guenard, B. (Benoit), Guglielmin, M. (Mauro), Guillemot, J. (Joannes), Haase, P. (Peter), Haider, S. (Sylvia), Halbritter, A. H. (Aud H.), Hamid, M. (Maroof), Hammerle, A. (Albin), Hampe, A. (Arndt), Haugum, S. V. (Siri, V), Hederova, L. (Lucia), Heinesch, B. (Bernard), Helfter, C. (Carole), Hepenstrick, D. (Daniel), Herberich, M. (Maximiliane), Herbst, M. (Mathias), Hermanutz, L. (Luise), Hik, D. S. (David S.), Hoffren, R. (Raul), Homeier, J. (Juergen), Hörtnagl, L. (Lukas), Hoye, T. T. (Toke T.), Hrbacek, F. (Filip), Hylander, K. (Kristoffer), Iwata, H. (Hiroki), Jackowicz-Korczynski, M. A. (Marcin Antoni), Jactel, H. (Herve), Jarveoja, J. (Jarvi), Jastrzebowski, S. (Szymon), Jentsch, A. (Anke), Jimenez, J. J. (Juan J.), Jonsdottir, I. S. (Ingibjorg S.), Jucker, T. (Tommaso), Jump, A. S. (Alistair S.), Juszczak, R. (Radoslaw), Kanka, R. (Robert), Kaspar, V. (Vit), Kazakis, G. (George), Kelly, J. (Julia), Khuroo, A. A. (Anzar A.), Klemedtsson, L. (Leif), Klisz, M. (Marcin), Kljun, N. (Natascha), Knohl, A. (Alexander), Kobler, J. (Johannes), Kollar, J. (Jozef), Kotowska, M. M. (Martyna M.), Kovacs, B. (Bence), Kreyling, J. (Juergen), Lamprecht, A. (Andrea), Lang, S. I. (Simone, I), Larson, C. (Christian), Larson, K. (Keith), Laska, K. (Kamil), Maire, G. I. (Guerric Ie), Leihy, R. I. (Rachel, I), Lens, L. (Luc), Liljebladh, B. (Bengt), Lohila, A. (Annalea), Lorite, J. (Juan), Loubet, B. (Benjamin), Lynn, J. (Joshua), Macek, M. (Martin), Mackenzie, R. (Roy), Magliulo, E. (Enzo), Maier, R. (Regine), Malfasi, F. (Francesco), Malis, F. (Frantisek), Man, M. (Matej), Manca, G. (Giovanni), Manco, A. (Antonio), Manise, T. (Tanguy), Manolaki, P. (Paraskevi), Marciniak, F. (Felipe), Matula, R. (Radim), Clara Mazzolari, A. (Ana), Medinets, S. (Sergiy), Medinets, V. (Volodymyr), Meeussen, C. (Camille), Merinero, S. (Sonia), Guimaraes Mesquita, R. d. (Rita de Cassia), Meusburger, K. (Katrin), Meysman, F. J. (Filip J. R.), Michaletz, S. T. (Sean T.), Milbau, A. (Ann), Moiseev, D. (Dmitry), Moiseev, P. (Pavel), Mondoni, A. (Andrea), Monfries, R. (Ruth), Montagnani, L. (Leonardo), Moriana-Armendariz, M. (Mikel), di Cella, U. M. (Umberto Morra), Moersdorf, M. (Martin), Mosedale, J. R. (Jonathan R.), Muffler, L. (Lena), Munoz-Rojas, M. (Miriam), Myers, J. A. (Jonathan A.), Myers-Smith, I. H. (Isla H.), Nagy, L. (Laszlo), Nardino, M. (Marianna), Naujokaitis-Lewis, I. (Ilona), Newling, E. (Emily), Nicklas, L. (Lena), Niedrist, G. (Georg), Niessner, A. (Armin), Nilsson, M. B. (Mats B.), Normand, S. (Signe), Nosetto, M. D. (Marcelo D.), Nouvellon, Y. (Yann), Nunez, M. A. (Martin A.), Ogaya, R. (Roma), Ogee, J. (Jerome), Okello, J. (Joseph), Olejnik, J. (Janusz), Olesen, J. E. (Jorgen Eivind), Opedal, O. H. (Oystein H.), Orsenigo, S. (Simone), Palaj, A. (Andrej), Pampuch, T. (Timo), Panov, A. V. (Alexey V.), Pärtel, M. (Meelis), Pastor, A. (Ada), Pauchard, A. (Aníbal), Pauli, H. (Harald), Pavelka, M. (Marian), Pearse, W. D. (William D.), Peichl, M. (Matthias), Pellissier, L. (Loïc), Penczykowski, R. M. (Rachel M.), Penuelas, J. (Josep), Petit Bon, M. (Matteo), Petraglia, A. (Alessandro), Phartyal, S. S. (Shyam S.), Phoenix, G. K. (Gareth K.), Pio, C. (Casimiro), Pitacco, A. (Andrea), Pitteloud, C. (Camille), Plichta, R. (Roman), Porro, F. (Francesco), Portillo-Estrada, M. (Miguel), Poulenard, J. (Jérôme), Poyatos, R. (Rafael), Prokushkin, A. S. (Anatoly S.), Puchalka, R. (Radoslaw), Pușcaș, M. (Mihai), Radujković, D. (Dajana), Randall, K. (Krystal), Ratier Backes, A. (Amanda), Remmele, S. (Sabine), Remmers, W. (Wolfram), Renault, D. (David), Risch, A. C. (Anita C.), Rixen, C. (Christian), Robinson, S. A. (Sharon A.), Robroek, B. J. (Bjorn J. M.), Rocha, A. V. (Adrian V.), Rossi, C. (Christian), Rossi, G. (Graziano), Roupsard, O. (Olivier), Rubtsov, A. V. (Alexey V.), Saccone, P. (Patrick), Sagot, C. (Clotilde), Sallo Bravo, J. (Jhonatan), Santos, C. C. (Cinthya C.), Sarneel, J. M. (Judith M.), Scharnweber, T. (Tobias), Schmeddes, J. (Jonas), Schmidt, M. (Marius), Scholten, T. (Thomas), Schuchardt, M. (Max), Schwartz, N. (Naomi), Scott, T. (Tony), Seeber, J. (Julia), Segalin De Andrade, A. C. (Ana Cristina), Seipel, T. (Tim), Semenchuk, P. (Philipp), Senior, R. A. (Rebecca A.), Serra-Diaz, J. M. (Josep M.), Sewerniak, P. (Piotr), Shekhar, A. (Ankit), Sidenko, N. V. (Nikita V.), Siebicke, L. (Lukas), Siegwart Collier, L. (Laura), Simpson, E. (Elizabeth), Siqueira, D. P. (David P.), Sitková, Z. (Zuzana), Six, J. (Johan), Smiljanic, M. (Marko), Smith, S. W. (Stuart W.), Smith-Tripp, S. (Sarah), Somers, B. (Ben), Sørensen, M. V. (Mia Vedel), Souza, J. J. (José João L. L.), Souza, B. I. (Bartolomeu Israel), Dias, A. S. (Arildo Souza), Spasojevic, M. J. (Marko J.), Speed, J. D. (James D. M.), Spicher, F. (Fabien), Stanisci, A. (Angela), Steinbauer, K. (Klaus), Steinbrecher, R. (Rainer), Steinwandter, M. (Michael), Stemkovski, M. (Michael), Stephan, J. G. (Jörg G.), Stiegler, C. (Christian), Stoll, S. (Stefan), Svátek, M. (Martin), Svoboda, M. (Miroslav), Tagesson, T. (Torbern), Tanentzap, A. J. (Andrew J.), Tanneberger, F. (Franziska), Theurillat, J.-P. (Jean-Paul), Thomas, H. J. (Haydn J. D.), Thomas, A. D. (Andrew D.), Tielbörger, K. (Katja), Tomaselli, M. (Marcello), Treier, U. A. (Urs Albert), Trouillier, M. (Mario), Turtureanu, P. D. (Pavel Dan), Tutton, R. (Rosamond), Tyystjärvi, V. A. (Vilna A.), Ueyama, M. (Masahito), Ujházy, K. (Karol), Ujházyová, M. (Mariana), Uogintas, D. (Domas), Urban, A. V. (Anastasiya V.), Urban, J. (Josef), Urbaniak, M. (Marek), Ursu, T.-M. (Tudor-Mihai), Vaccari, F. P. (Francesco Primo), Van De Vondel, S. (Stijn), Van Den Brink, L. (Liesbeth), Van Geel, M. (Maarten), Vandvik, V. (Vigdis), Vangansbeke, P. (Pieter), Varlagin, A. (Andrej), Veen, G. F. (G. F.), Veenendaal, E. (Elmar), Venn, S. E. (Susanna E.), Verbeeck, H. (Hans), Verbrugggen, E. (Erik), Verheijen, F. G. (Frank G. A.), Villar, L. (Luis), Vitale, L. (Luca), Vittoz, P. (Pascal), Vives-Ingla, M. (Maria), Von Oppen, J. (Jonathan), Walz, J. (Josefine), Wang, R. (Runxi), Wang, Y. (Yifeng), Way, R. G. (Robert G.), Wedegärtner, R. E. (Ronja E. M.), Weigel, R. (Robert), Wild, J. (Jan), Wilkinson, M. (Matthew), Wilmking, M. (Martin), Wingate, L. (Lisa), Winkler, M. (Manuela), Wipf, S. (Sonja), Wohlfahrt, G. (Georg), Xenakis, G. (Georgios), Yang, Y. (Yan), Yu, Z. (Zicheng), Yu, K. (Kailiang), Zellweger, F. (Florian), Zhang, J. (Jian), Zhang, Z. (Zhaochen), Zhao, P. (Peng), Ziemblińska, K. (Klaudia), Zimmermann, R. (Reiner), Zong, S. (Shengwei), Zyryanov, V. I. (Viacheslav I.), Nijs, I. (Ivan), Lenoir, J. (Jonathan), Lembrechts, J. J. (Jonas J.), van den Hoogen, J. (Johan), Aalto, J. (Juha), Ashcroft, M. B. (Michael B.), De Frenne, P. (Pieter), Kemppinen, J. (Julia), Kopecky, M. (Martin), Luoto, M. (Miska), Maclean, I. M. (Ilya M. D.), Crowther, T. W. (Thomas W.), Bailey, J. J. (Joseph J.), Haesen, S. (Stef), Klinges, D. H. (David H.), Niittynen, P. (Pekka), Scheffers, B. R. (Brett R.), Van Meerbeek, K. (Koenraad), Aartsma, P. (Peter), Abdalaze, O. (Otar), Abedi, M. (Mehdi), Aerts, R. (Rien), Ahmadian, N. (Negar), Ahrends, A. (Antje), Alatalo, J. M. (Juha M.), Alexander, J. M. (Jake M.), Allonsius, C. N. (Camille Nina), Altman, J. (Jan), Ammann, C. (Christof), Andres, C. (Christian), Andrews, C. (Christopher), Ardo, J. (Jonas), Arriga, N. (Nicola), Arzac, A. (Alberto), Aschero, V. (Valeria), Assis, R. L. (Rafael L.), Assmann, J. J. (Jakob Johann), Bader, M. Y. (Maaike Y.), Bahalkeh, K. (Khadijeh), Barancok, P. (Peter), Barrio, I. C. (Isabel C.), Barros, A. (Agustina), Barthel, M. (Matti), Basham, E. W. (Edmund W.), Bauters, M. (Marijn), Bazzichetto, M. (Manuele), Marchesini, L. B. (Luca Belelli), Bell, M. C. (Michael C.), Benavides, J. C. (Juan C.), Benito Alonso, J. L. (Jose Luis), Berauer, B. J. (Bernd J.), Bjerke, J. W. (Jarle W.), Bjork, R. G. (Robert G.), Bjorkman, M. P. (Mats P.), Bjornsdottir, K. (Katrin), Blonder, B. (Benjamin), Boeckx, P. (Pascal), Boike, J. (Julia), Bokhorst, S. (Stef), Brum, B. N. (Barbara N. S.), Bruna, J. (Josef), Buchmann, N. (Nina), Buysse, P. (Pauline), Camargo, J. L. (Jose Luis), Campoe, O. C. (Otavio C.), Candan, O. (Onur), Canessa, R. (Rafaella), Cannone, N. (Nicoletta), Carbognani, M. (Michele), Carnicer, J. (Jofre), Casanova-Katny, A. (Angelica), Cesarz, S. (Simone), Chojnicki, B. (Bogdan), Choler, P. (Philippe), Chown, S. L. (Steven L.), Cifuentes, E. F. (Edgar F.), Ciliak, M. (Marek), Contador, T. (Tamara), Convey, P. (Peter), Cooper, E. J. (Elisabeth J.), Cremonese, E. (Edoardo), Curasi, S. R. (Salvatore R.), Curtis, R. (Robin), Cutini, M. (Maurizio), Dahlberg, C. J. (C. Johan), Daskalova, G. N. (Gergana N.), Angel de Pablo, M. (Miguel), Della Chiesa, S. (Stefano), Dengler, J. (Juergen), Deronde, B. (Bart), Descombes, P. (Patrice), Di Cecco, V. (Valter), Di Musciano, M. (Michele), Dick, J. (Jan), Dimarco, R. D. (Romina D.), Dolezal, J. (Jiri), Dorrepaal, E. (Ellen), Dusek, J. (Jiri), Eisenhauer, N. (Nico), Eklundh, L. (Lars), Erickson, T. E. (Todd E.), Erschbamer, B. (Brigitta), Eugster, W. (Werner), Ewers, R. M. (Robert M.), Exton, D. A. (Dan A.), Fanin, N. (Nicolas), Fazlioglu, F. (Fatih), Feigenwinter, I. (Iris), Fenu, G. (Giuseppe), Ferlian, O. (Olga), Fernandez Calzado, M. R. (M. Rosa), Fernandez-Pascual, E. (Eduardo), Finckh, M. (Manfred), Higgens, R. F. (Rebecca Finger), Forte, T. G. (T'ai G. W.), Freeman, E. C. (Erika C.), Frei, E. R. (Esther R.), Fuentes-Lillo, E. (Eduardo), Garcia, R. A. (Rafael A.), Garcia, M. B. (Maria B.), Geron, C. (Charly), Gharun, M. (Mana), Ghosn, D. (Dany), Gigauri, K. (Khatuna), Gobin, A. (Anne), Goded, I. (Ignacio), Goeckede, M. (Mathias), Gottschall, F. (Felix), Goulding, K. (Keith), Govaert, S. (Sanne), Graae, B. J. (Bente Jessen), Greenwood, S. (Sarah), Greiser, C. (Caroline), Grelle, A. (Achim), Guenard, B. (Benoit), Guglielmin, M. (Mauro), Guillemot, J. (Joannes), Haase, P. (Peter), Haider, S. (Sylvia), Halbritter, A. H. (Aud H.), Hamid, M. (Maroof), Hammerle, A. (Albin), Hampe, A. (Arndt), Haugum, S. V. (Siri, V), Hederova, L. (Lucia), Heinesch, B. (Bernard), Helfter, C. (Carole), Hepenstrick, D. (Daniel), Herberich, M. (Maximiliane), Herbst, M. (Mathias), Hermanutz, L. (Luise), Hik, D. S. (David S.), Hoffren, R. (Raul), Homeier, J. (Juergen), Hörtnagl, L. (Lukas), Hoye, T. T. (Toke T.), Hrbacek, F. (Filip), Hylander, K. (Kristoffer), Iwata, H. (Hiroki), Jackowicz-Korczynski, M. A. (Marcin Antoni), Jactel, H. (Herve), Jarveoja, J. (Jarvi), Jastrzebowski, S. (Szymon), Jentsch, A. (Anke), Jimenez, J. J. (Juan J.), Jonsdottir, I. S. (Ingibjorg S.), Jucker, T. (Tommaso), Jump, A. S. (Alistair S.), Juszczak, R. (Radoslaw), Kanka, R. (Robert), Kaspar, V. (Vit), Kazakis, G. (George), Kelly, J. (Julia), Khuroo, A. A. (Anzar A.), Klemedtsson, L. (Leif), Klisz, M. (Marcin), Kljun, N. (Natascha), Knohl, A. (Alexander), Kobler, J. (Johannes), Kollar, J. (Jozef), Kotowska, M. M. (Martyna M.), Kovacs, B. (Bence), Kreyling, J. (Juergen), Lamprecht, A. (Andrea), Lang, S. I. (Simone, I), Larson, C. (Christian), Larson, K. (Keith), Laska, K. (Kamil), Maire, G. I. (Guerric Ie), Leihy, R. I. (Rachel, I), Lens, L. (Luc), Liljebladh, B. (Bengt), Lohila, A. (Annalea), Lorite, J. (Juan), Loubet, B. (Benjamin), Lynn, J. (Joshua), Macek, M. (Martin), Mackenzie, R. (Roy), Magliulo, E. (Enzo), Maier, R. (Regine), Malfasi, F. (Francesco), Malis, F. (Frantisek), Man, M. (Matej), Manca, G. (Giovanni), Manco, A. (Antonio), Manise, T. (Tanguy), Manolaki, P. (Paraskevi), Marciniak, F. (Felipe), Matula, R. (Radim), Clara Mazzolari, A. (Ana), Medinets, S. (Sergiy), Medinets, V. (Volodymyr), Meeussen, C. (Camille), Merinero, S. (Sonia), Guimaraes Mesquita, R. d. (Rita de Cassia), Meusburger, K. (Katrin), Meysman, F. J. (Filip J. R.), Michaletz, S. T. (Sean T.), Milbau, A. (Ann), Moiseev, D. (Dmitry), Moiseev, P. (Pavel), Mondoni, A. (Andrea), Monfries, R. (Ruth), Montagnani, L. (Leonardo), Moriana-Armendariz, M. (Mikel), di Cella, U. M. (Umberto Morra), Moersdorf, M. (Martin), Mosedale, J. R. (Jonathan R.), Muffler, L. (Lena), Munoz-Rojas, M. (Miriam), Myers, J. A. (Jonathan A.), Myers-Smith, I. H. (Isla H.), Nagy, L. (Laszlo), Nardino, M. (Marianna), Naujokaitis-Lewis, I. (Ilona), Newling, E. (Emily), Nicklas, L. (Lena), Niedrist, G. (Georg), Niessner, A. (Armin), Nilsson, M. B. (Mats B.), Normand, S. (Signe), Nosetto, M. D. (Marcelo D.), Nouvellon, Y. (Yann), Nunez, M. A. (Martin A.), Ogaya, R. (Roma), Ogee, J. (Jerome), Okello, J. (Joseph), Olejnik, J. (Janusz), Olesen, J. E. (Jorgen Eivind), Opedal, O. H. (Oystein H.), Orsenigo, S. (Simone), Palaj, A. (Andrej), Pampuch, T. (Timo), Panov, A. V. (Alexey V.), Pärtel, M. (Meelis), Pastor, A. (Ada), Pauchard, A. (Aníbal), Pauli, H. (Harald), Pavelka, M. (Marian), Pearse, W. D. (William D.), Peichl, M. (Matthias), Pellissier, L. (Loïc), Penczykowski, R. M. (Rachel M.), Penuelas, J. (Josep), Petit Bon, M. (Matteo), Petraglia, A. (Alessandro), Phartyal, S. S. (Shyam S.), Phoenix, G. K. (Gareth K.), Pio, C. (Casimiro), Pitacco, A. (Andrea), Pitteloud, C. (Camille), Plichta, R. (Roman), Porro, F. (Francesco), Portillo-Estrada, M. (Miguel), Poulenard, J. (Jérôme), Poyatos, R. (Rafael), Prokushkin, A. S. (Anatoly S.), Puchalka, R. (Radoslaw), Pușcaș, M. (Mihai), Radujković, D. (Dajana), Randall, K. (Krystal), Ratier Backes, A. (Amanda), Remmele, S. (Sabine), Remmers, W. (Wolfram), Renault, D. (David), Risch, A. C. (Anita C.), Rixen, C. (Christian), Robinson, S. A. (Sharon A.), Robroek, B. J. (Bjorn J. M.), Rocha, A. V. (Adrian V.), Rossi, C. (Christian), Rossi, G. (Graziano), Roupsard, O. (Olivier), Rubtsov, A. V. (Alexey V.), Saccone, P. (Patrick), Sagot, C. (Clotilde), Sallo Bravo, J. (Jhonatan), Santos, C. C. (Cinthya C.), Sarneel, J. M. (Judith M.), Scharnweber, T. (Tobias), Schmeddes, J. (Jonas), Schmidt, M. (Marius), Scholten, T. (Thomas), Schuchardt, M. (Max), Schwartz, N. (Naomi), Scott, T. (Tony), Seeber, J. (Julia), Segalin De Andrade, A. C. (Ana Cristina), Seipel, T. (Tim), Semenchuk, P. (Philipp), Senior, R. A. (Rebecca A.), Serra-Diaz, J. M. (Josep M.), Sewerniak, P. (Piotr), Shekhar, A. (Ankit), Sidenko, N. V. (Nikita V.), Siebicke, L. (Lukas), Siegwart Collier, L. (Laura), Simpson, E. (Elizabeth), Siqueira, D. P. (David P.), Sitková, Z. (Zuzana), Six, J. (Johan), Smiljanic, M. (Marko), Smith, S. W. (Stuart W.), Smith-Tripp, S. (Sarah), Somers, B. (Ben), Sørensen, M. V. (Mia Vedel), Souza, J. J. (José João L. L.), Souza, B. I. (Bartolomeu Israel), Dias, A. S. (Arildo Souza), Spasojevic, M. J. (Marko J.), Speed, J. D. (James D. M.), Spicher, F. (Fabien), Stanisci, A. (Angela), Steinbauer, K. (Klaus), Steinbrecher, R. (Rainer), Steinwandter, M. (Michael), Stemkovski, M. (Michael), Stephan, J. G. (Jörg G.), Stiegler, C. (Christian), Stoll, S. (Stefan), Svátek, M. (Martin), Svoboda, M. (Miroslav), Tagesson, T. (Torbern), Tanentzap, A. J. (Andrew J.), Tanneberger, F. (Franziska), Theurillat, J.-P. (Jean-Paul), Thomas, H. J. (Haydn J. D.), Thomas, A. D. (Andrew D.), Tielbörger, K. (Katja), Tomaselli, M. (Marcello), Treier, U. A. (Urs Albert), Trouillier, M. (Mario), Turtureanu, P. D. (Pavel Dan), Tutton, R. (Rosamond), Tyystjärvi, V. A. (Vilna A.), Ueyama, M. (Masahito), Ujházy, K. (Karol), Ujházyová, M. (Mariana), Uogintas, D. (Domas), Urban, A. V. (Anastasiya V.), Urban, J. (Josef), Urbaniak, M. (Marek), Ursu, T.-M. (Tudor-Mihai), Vaccari, F. P. (Francesco Primo), Van De Vondel, S. (Stijn), Van Den Brink, L. (Liesbeth), Van Geel, M. (Maarten), Vandvik, V. (Vigdis), Vangansbeke, P. (Pieter), Varlagin, A. (Andrej), Veen, G. F. (G. F.), Veenendaal, E. (Elmar), Venn, S. E. (Susanna E.), Verbeeck, H. (Hans), Verbrugggen, E. (Erik), Verheijen, F. G. (Frank G. A.), Villar, L. (Luis), Vitale, L. (Luca), Vittoz, P. (Pascal), Vives-Ingla, M. (Maria), Von Oppen, J. (Jonathan), Walz, J. (Josefine), Wang, R. (Runxi), Wang, Y. (Yifeng), Way, R. G. (Robert G.), Wedegärtner, R. E. (Ronja E. M.), Weigel, R. (Robert), Wild, J. (Jan), Wilkinson, M. (Matthew), Wilmking, M. (Martin), Wingate, L. (Lisa), Winkler, M. (Manuela), Wipf, S. (Sonja), Wohlfahrt, G. (Georg), Xenakis, G. (Georgios), Yang, Y. (Yan), Yu, Z. (Zicheng), Yu, K. (Kailiang), Zellweger, F. (Florian), Zhang, J. (Jian), Zhang, Z. (Zhaochen), Zhao, P. (Peng), Ziemblińska, K. (Klaudia), Zimmermann, R. (Reiner), Zong, S. (Shengwei), Zyryanov, V. I. (Viacheslav I.), Nijs, I. (Ivan), and Lenoir, J. (Jonathan)

Abstract

Research in global change ecology relies heavily on global climatic grids derived from estimates of air temperature in open areas at around 2 m above the ground. These climatic grids do not reflect conditions below vegetation canopies and near the ground surface, where critical ecosystem functions occur and most terrestrial species reside. Here, we provide global maps of soil temperature and bioclimatic variables at a 1-km² resolution for 0‐5 and 5‐15 cm soil depth. These maps were created by calculating the difference (i.e. offset) between in situ soil temperature measurements, based on time series from over 1200 1‐km² pixels (summarized from 8519 unique temperature sensors) across all the world’s major terrestrial biomes, and coarse-grained air temperature estimates from ERA5-Land (an atmospheric reanalysis by the European Centre for Medium-Range Weather Forecasts). We show that mean annual soil temperature differs markedly from the corresponding gridded air temperature, by up to 10° degrees C (mean = 3.0 +/‐ 2.1° degrees C), with substantial variation across biomes and seasons. Over the year, soils in cold and/or dry biomes are substantially warmer (+3.6 +/‐2.3° degrees C) than gridded air temperature, whereas soils in warm and humid environments are on average slightly cooler (‐0.7 +/‐ 2.3° degrees C). The observed substantial and biome-specific offsets emphasize that the projected impacts of climate and climate change on near-surface biodiversity and ecosystem functioning are inaccurately assessed when air rather than soil temperature is used, especially in cold environments. The global soil-related bioclimatic variables provided here are an important step forward for any application in ecology and related disciplines. Nevertheless, we highlight the need to fill remaining geographic gaps by collecting more in situ measurements of microclimate conditions to further enhance the spatiotemporal resolution of global soil temperature products for ecological

Published
2022

30. Recommendations for the classification of diseases as CFTR-related disorders

Author

Bombieri, C., Claustres, M., De Boeck, K., Derichs, N., Dodge, J., Girodon, E., Sermet, I., Schwarz, M., Tzetis, M., Wilschanski, M., Bareil, C., Bilton, D., Castellani, C., Cuppens, H., Cutting, G.R., Drevínek, P., Farrell, P., Elborn, J.S., Jarvi, K., Kerem, B., Kerem, E., Knowles, M., Macek, M., Jr, Munck, A., Radojkovic, D., Seia, M., Sheppard, D.N., Southern, K.W., Stuhrmann, M., Tullis, E., Zielenski, J., Pignatti, P.F., and Ferec, C.

Published
2011
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31. eP434: Celebrating and commemorating the 2022 bicentennial of Mendel’s birth, the exhumation of Mendel's body for archeologic, anthropologic, and genomic research

Author

Mulvihill, John, primary, Carda, J., additional, Macek, M., additional, Genuardi, M., additional, Easter, Carla, additional, Fairbanks, Daniel, additional, Lindee, M. Susan, additional, Adam, V., additional, Dostál, O., additional, Sekerák, J., additional, Křížová, B., additional, and Pospíšilová, Š., additional

Published
2022
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32. Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice (European Journal of Human Genetics, (2022), 30, 5, (493-495), 10.1038/s41431-021-01000-x)

Author

Forzano, F., Antonova, O., Clarke, A., de Wert, G., Hentze, S., Jamshidi, Y., Moreau, Y., Perola, M., Prokopenko, I., Read, A., Reymond, A., Stefansdottir, V., van El, C., Genuardi, M., Maurizio, G., Peterlin, B., Oliveira, C., Writzl, K., Houge, G.D., Cordier, C., Howard, H., Macek, M., Melegh, B., Mendes, A., Radojkovic, D., Rial-Sebbag, E., Stefánsdottir, V., and Ulph, F.

Published
2022
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33. Correction to: Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’ (European Journal of Human Genetics, (2022), 10.1038/s41431-022-01241-4)

Author

Forzano, F., Antonova, O., Clarke, A., de Wert, G., Hentze, S., Jamshidi, Y., Moreau, Y., Perola, M., Prokopenko, I., Read, A., Reymond, A., Stefansdottir, V., van El, C., Genuardi, M., Peterlin, B., Oliveira, C., Writzl, K., Houge, G.D., Cordier, C., Howard, H., Macek, M., Melegh, B., Mendes, A., Radojkovic, D., Rial-Sebbag, E., and Ulph, F.

Published
2022
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36. Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2)

Author

de Boer E., Ockeloen C. W., Matalonga L., Horvath R., Cohen E., Cuesta I., Danis D., Denomme-Pichon A. -S., Duffourd Y., Gilissen C., Johari M., Laurie S., Li S., Nelson I., Peters S., Paramonov I., Prasanth S., Robinson P., Sablauskas K., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vitobello A., Rodenburg R. J., Coenen M. J. H., Janssen M., Henssen D., Banka S., Benetti E., Casari G., Ciolfi A., Clayton-Smith J., Dallapiccola B., Faivre L., Haack T. B., Hammarsjo A., Havlovicova M., Hoischen A., Hugon A., Jackson A., Kleefstra T., Lindstrand A., Lopez-Martin E., Macek M., Nigro V., Nordgren A., Pettersson M., Pinelli M., Pizzi S., Posada M., Radio F. C., Renieri A., Rooryck C., Ryba L., Schwarz M., Tartaglia M., Thauvin C., Torella A., Verloes A., Vissers L., Vyshka K., Zurek B., Trimouille A., Vissers L. E. L. M., de Boer, E., Ockeloen, C. W., Matalonga, L., Horvath, R., Cohen, E., Cuesta, I., Danis, D., Denomme-Pichon, A. -S., Duffourd, Y., Gilissen, C., Johari, M., Laurie, S., Li, S., Nelson, I., Peters, S., Paramonov, I., Prasanth, S., Robinson, P., Sablauskas, K., Savarese, M., Steyaert, W., Topf, A., van der Velde, J. K., Vitobello, A., Rodenburg, R. J., Coenen, M. J. H., Janssen, M., Henssen, D., Banka, S., Benetti, E., Casari, G., Ciolfi, A., Clayton-Smith, J., Dallapiccola, B., Faivre, L., Haack, T. B., Hammarsjo, A., Havlovicova, M., Hoischen, A., Hugon, A., Jackson, A., Kleefstra, T., Lindstrand, A., Lopez-Martin, E., Macek, M., Nigro, V., Nordgren, A., Pettersson, M., Pinelli, M., Pizzi, S., Posada, M., Radio, F. C., Renieri, A., Rooryck, C., Ryba, L., Schwarz, M., Tartaglia, M., Thauvin, C., Torella, A., Verloes, A., Vissers, L., Vyshka, K., Zurek, B., Trimouille, A., and Vissers, L. E. L. M.

Abstract

In the original publication of the article, consortium author lists were missing in the article. The details are as below.

Published
2021

37. Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1)

Author

Schule R., Timmann D., Erasmus C. E., Reichbauer J., Wayand M., Baets J., Balicza P., Chinnery P., Durr A., Haack T., Hengel H., Horvath R., Houlden H., Kamsteeg E. -J., Kamsteeg C., Lohmann K., Macaya A., Marce-Grau A., Maver A., Molnar J., Munchau A., Peterlin B., Riess O., Schols L., Stevanin G., Synofzik M., Timmerman V., van de Warrenburg B., van Os N., Vandrovcova J., Wilke C., Bevot A., Zuchner S., Beltran S., Laurie S., Matalonga L., Graessner H., Zurek B., Ellwanger K., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., Hoischen A., 't Hoen P. A. C., Vissers L. E. L. M., Gilissen C., Steyaert W., Sablauskas K., de Voer R. M., Janssen E., de Boer E., Steehouwer M., Yaldiz B., Kleefstra T., Brookes A. J., Veal C., Gibson S., Wadsley M., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Topf A., Straub V., Bettolo C. M., Specht S., Clayton-Smith J., Banka S., Alexander E., Jackson A., Faivre L., Thauvin C., Vitobello A., Denomme-Pichon A. -S., Duffourd Y., Tisserant E., Bruel A. -L., Peyron C., Pelissier A., Gut I. G., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Garcia C., Fernandez-Callejo M., Hernandez C., Pico D., Paramonov I., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Olry A., Lagorce D., Havrylenko S., Izem K., Rigour F., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Nelson I., Yaou R. B., Metay C., Eymard B., Cohen E., Atalaia A., Stojkovic T., Macek M., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Havlovicova M., Kremlik V., Parkinson H., Keane T., Spalding D., Senf A., Robinson P., Danis D., Robert G., Costa A., Patch C., Hanna M., Reilly M., Muntoni F., Zaharieva I., Sarkozy A., de Jonghe P., Nigro V., Banfi S., Torella A., Musacchia F., Piluso G., Ferlini A., Selvatici R., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Velde J. K., van der Vries G., Neerincx P. B., Roelofs-Prins D., Kohler S., Metcalfe A., Verloes A., Drunat S., Rooryck C., Trimouille A., Castello R., Morleo M., Pinelli M., Varavallo A., De la Paz M. P., Sanchez E. B., Martin E. L., Delgado B. M., de la Rosa F. J. A. G., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Renieri A., Benetti E., Molnar M. J., Herzog R., Pauly M., Osorio A. N., de Benito D. N., Thompson R., Polavarapu K., Beeson D., Cossins J., Cruz P. M. R., Hackman P., Johari M., Savarese M., Udd B., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Schrock E., Rump A., Schule, R., Timmann, D., Erasmus, C. E., Reichbauer, J., Wayand, M., Baets, J., Balicza, P., Chinnery, P., Durr, A., Haack, T., Hengel, H., Horvath, R., Houlden, H., Kamsteeg, E. -J., Kamsteeg, C., Lohmann, K., Macaya, A., Marce-Grau, A., Maver, A., Molnar, J., Munchau, A., Peterlin, B., Riess, O., Schols, L., Stevanin, G., Synofzik, M., Timmerman, V., van de Warrenburg, B., van Os, N., Vandrovcova, J., Wilke, C., Bevot, A., Zuchner, S., Beltran, S., Laurie, S., Matalonga, L., Graessner, H., Zurek, B., Ellwanger, K., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., Hoischen, A., 't Hoen, P. A. C., Vissers, L. E. L. M., Gilissen, C., Steyaert, W., Sablauskas, K., de Voer, R. M., Janssen, E., de Boer, E., Steehouwer, M., Yaldiz, B., Kleefstra, T., Brookes, A. J., Veal, C., Gibson, S., Wadsley, M., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Topf, A., Straub, V., Bettolo, C. M., Specht, S., Clayton-Smith, J., Banka, S., Alexander, E., Jackson, A., Faivre, L., Thauvin, C., Vitobello, A., Denomme-Pichon, A. -S., Duffourd, Y., Tisserant, E., Bruel, A. -L., Peyron, C., Pelissier, A., Gut, I. G., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Garcia, C., Fernandez-Callejo, M., Hernandez, C., Pico, D., Paramonov, I., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Olry, A., Lagorce, D., Havrylenko, S., Izem, K., Rigour, F., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Nelson, I., Yaou, R. B., Metay, C., Eymard, B., Cohen, E., Atalaia, A., Stojkovic, T., Macek, M., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Havlovicova, M., Kremlik, V., Parkinson, H., Keane, T., Spalding, D., Senf, A., Robinson, P., Danis, D., Robert, G., Costa, A., Patch, C., Hanna, M., Reilly, M., Muntoni, F., Zaharieva, I., Sarkozy, A., de Jonghe, P., Nigro, V., Banfi, S., Torella, A., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Velde, J. K., van der Vries, G., Neerincx, P. B., Roelofs-Prins, D., Kohler, S., Metcalfe, A., Verloes, A., Drunat, S., Rooryck, C., Trimouille, A., Castello, R., Morleo, M., Pinelli, M., Varavallo, A., De la Paz, M. P., Sanchez, E. B., Martin, E. L., Delgado, B. M., de la Rosa, F. J. A. G., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Renieri, A., Benetti, E., Molnar, M. J., Herzog, R., Pauly, M., Osorio, A. N., de Benito, D. N., Thompson, R., Polavarapu, K., Beeson, D., Cossins, J., Cruz, P. M. R., Hackman, P., Johari, M., Savarese, M., Udd, B., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Schrock, E., and Rump, A.

Abstract

In the original publication of the article, consortium author lists were missing in the article. The details are given below

Published
2021

40. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

Author

Castellani, C., Cuppens, H., Macek, M., Jr., Cassiman, J.J., Kerem, E., Durie, P., Tullis, E., Assael, B.M., Bombieri, C., Brown, A., Casals, T., Claustres, M., Cutting, G.R., Dequeker, E., Dodge, J., Doull, I., Farrell, P., Ferec, C., Girodon, E., Johannesson, M., Kerem, B., Knowles, M., Munck, A., Pignatti, P.F., Radojkovic, D., Rizzotti, P., Schwarz, M., Stuhrmann, M., Tzetis, M., Zielenski, J., and Elborn, J.S.

Published
2008
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44. Global maps of soil temperature

Author

Lembrechts, JJ, van den Hoogen, J, Aalto, J, Ashcroft, MB, De Frenne, P, Kemppinen, J, Kopecký, M, Luoto, M, Maclean, IMD, Crowther, TW, Bailey, JJ, Haesen, S, Klinges, DH, Niittynen, P, Scheffers, BR, Van Meerbeek, K, Aartsma, P, Abdalaze, O, Abedi, M, Aerts, R, Ahmadian, N, Ahrends, A, Alatalo, JM, Alexander, JM, Nina Allonsius, C, Altman, J, Ammann, C, Andres, C, Andrews, C, Ardö, J, Arriga, N, Arzac, A, Aschero, V, Assis, RL, Johann Assmann, J, Bader, MY, Bahalkeh, K, Barančok, P, Barrio, IC, Barros, A, Barthel, M, Basham, EW, Bauters, M, Bazzichetto, M, Belelli Marchesini, L, Bell, MC, Benavides, JC, Luis Benito Alonso, J, Berauer, BJ, Bjerke, JW, Björk, RG, Björkman, MP, Björnsdóttir, K, Blonder, B, Boeckx, P, Boike, J, Bokhorst, S, Brum, BNS, Brůna, J, Buchmann, N, Buysse, P, Luís Camargo, J, Campoe, OC, Candan, O, Canessa, R, Cannone, N, Carbognani, M, Carnicer, J, Casanova‐Katny, A, Cesarz, S, Chojnicki, B, Choler, P, Chown, SL, Cifuentes, EF, Čiliak, M, Contador, T, Convey, P, Cooper, EJ, Cremonese, E, Curasi, SR, Curtis, R, Cutini, M, Johan Dahlberg, C, Daskalova, GN, Angel de Pablo, M, Della Chiesa, S, Dengler, J, Deronde, B, Descombes, P, Di Cecco, V, Di Musciano, M, Dick, J, Dimarco, RD, Dolezal, J, Dorrepaal, E, Dušek, J, Eisenhauer, N, Eklundh, L, Erickson, TE, Erschbamer, B, Eugster, W, Ewers, RM, Exton, DA, Fanin, N, Fazlioglu, F, Feigenwinter, I, Fenu, G, Ferlian, O, Rosa Fernández Calzado, M, Fernández‐Pascual, E, Finckh, M, Finger Higgens, R, Forte, TGW, Freeman, EC, Frei, ER, Fuentes‐Lillo, E, García, RA, García, MB, Géron, C, Gharun, M, Ghosn, D, Gigauri, K, Gobin, A, Goded, I, Goeckede, M, Gottschall, F, Goulding, K, Govaert, S, Jessen Graae, B, Greenwood, S, Greiser, C, Grelle, A, Guénard, B, Guglielmin, M, Guillemot, J, Haase, P, Haider, S, Halbritter, AH, Hamid, M, Hammerle, A, Hampe, A, Haugum, SV, Hederová, L, Heinesch, B, Helfter, C, Hepenstrick, D, Herberich, M, Herbst, M, Hermanutz, L, Hik, DS, Hoffrén, R, Homeier, J, Hörtnagl, L, Høye, TT, Hrbacek, F, Hylander, K, Iwata, H, Antoni Jackowicz‐Korczynski, M, Jactel, H, Järveoja, J, Jastrzębowski, S, Jentsch, A, Jiménez, JJ, Jónsdóttir, IS, Jucker, T, Jump, AS, Juszczak, R, Kanka, R, Kašpar, V, Kazakis, G, Kelly, J, Khuroo, AA, Klemedtsson, L, Klisz, M, Kljun, N, Knohl, A, Kobler, J, Kollár, J, Kotowska, MM, Kovács, B, Kreyling, J, Lamprecht, A, Lang, SI, Larson, C, Larson, K, Laska, K, le Maire, G, Leihy, RI, Lens, L, Liljebladh, B, Lohila, A, Lorite, J, Loubet, B, Lynn, J, Macek, M, Mackenzie, R, Magliulo, E, Maier, R, Malfasi, F, Máliš, F, Man, M, Manca, G, Manco, A, Manise, T, Manolaki, P, Marciniak, F, Matula, R, Clara Mazzolari, A, Medinets, S, Medinets, V, Meeussen, C, Merinero, S, de Cássia Guimarães Mesquita, R, Meusburger, K, Meysman, FJR, Michaletz, ST, Milbau, A, Moiseev, D, Moiseev, P, Mondoni, A, Monfries, R, Montagnani, L, Moriana‐Armendariz, M, Morra di Cella, U, Mörsdorf, M, Mosedale, JR, Muffler, L, Muñoz‐Rojas, M, Myers, JA, Myers‐Smith, IH, Nagy, L, Nardino, M, Naujokaitis‐Lewis, I, Newling, Emily, Nicklas, L, Niedrist, G, Niessner, A, Nilsson, MB, Normand, S, Nosetto, MD, Nouvellon, Y, Nuñez, MA, Ogaya, R, Ogée, J, Okello, J, Olejnik, J, Eivind Olesen, J, Opedal, Ø, Orsenigo, S, Palaj, A, Pampuch, T, Panov, AV, Pärtel, M, Pastor, A, Pauchard, A, Pauli, H, Pavelka, M, Pearse, WD, Peichl, M, Pellissier, L, Penczykowski, RM, Penuelas, J, Petit Bon, M, Petraglia, A, Phartyal, SS, Phoenix, GK, Pio, C, Pitacco, A, Pitteloud, C, Plichta, R, Porro, F, Portillo‐Estrada, M, Poulenard, J, Poyatos, R, Prokushkin, AS, Puchalka, R, Pușcaș, M, Radujković, D, Randall, K, Ratier Backes, A, Remmele, S, Remmers, W, Renault, D, Risch, AC, Rixen, C, Robinson, SA, Robroek, BJM, Rocha, AV, Rossi, C, Rossi, G, Roupsard, O, Rubtsov, AV, Saccone, P, Sagot, C, Sallo Bravo, J, Santos, CC, Sarneel, JM, Scharnweber, T, Schmeddes, J, Schmidt, M, Scholten, T, Schuchardt, M, Schwartz, N, Scott, T, Seeber, J, Cristina Segalin de Andrade, A, Seipel, T, Semenchuk, P, Senior, RA, Serra‐Diaz, JM, Sewerniak, P, Shekhar, A, Sidenko, NV, Siebicke, L, Siegwart Collier, L, Simpson, E, Siqueira, DP, Sitková, Z, Six, J, Smiljanic, M, Smith, SW, Smith‐Tripp, S, Somers, B, Vedel Sørensen, M, João L. L. Souza, J, Israel Souza, B, Souza Dias, A, Spasojevic, MJ, Speed, JDM, Spicher, F, Stanisci, A, Steinbauer, K, Steinbrecher, R, Steinwandter, M, Stemkovski, M, Stephan, JG, Stiegler, C, Stoll, S, Svátek, M, Svoboda, M, Tagesson, T, Tanentzap, AJ, Tanneberger, F, Theurillat, J, Thomas, HJD, Thomas, AD, Tielbörger, K, Tomaselli, M, Albert Treier, U, Trouillier, M, Dan Turtureanu, P, Tutton, R, Tyystjärvi, VA, Ueyama, M, Ujházy, K, Ujházyová, M, Uogintas, D, Urban, AV, Urban, J, Urbaniak, M, Ursu, T, Primo Vaccari, F, Van de Vondel, S, van den Brink, L, Van Geel, M, Vandvik, V, Vangansbeke, P, Varlagin, A, Veen, GF, Veenendaal, E, Venn, Susanna, Verbeeck, H, Verbrugggen, E, Verheijen, FGA, Villar, L, Vitale, L, Vittoz, P, Vives‐Ingla, M, von Oppen, J, Walz, J, Wang, R, Wang, Y, Way, RG, Wedegärtner, REM, Weigel, R, Wild, J, Wilkinson, M, Wilmking, M, Wingate, L, Winkler, M, Wipf, S, Wohlfahrt, G, Xenakis, G, Yang, Y, Yu, Z, Yu, K, Zellweger, F, Zhang, J, Zhang, Z, Zhao, P, Ziemblińska, K, Zimmermann, R, Zong, S, Zyryanov, VI, Nijs, I, Lenoir, J, Lembrechts, JJ, van den Hoogen, J, Aalto, J, Ashcroft, MB, De Frenne, P, Kemppinen, J, Kopecký, M, Luoto, M, Maclean, IMD, Crowther, TW, Bailey, JJ, Haesen, S, Klinges, DH, Niittynen, P, Scheffers, BR, Van Meerbeek, K, Aartsma, P, Abdalaze, O, Abedi, M, Aerts, R, Ahmadian, N, Ahrends, A, Alatalo, JM, Alexander, JM, Nina Allonsius, C, Altman, J, Ammann, C, Andres, C, Andrews, C, Ardö, J, Arriga, N, Arzac, A, Aschero, V, Assis, RL, Johann Assmann, J, Bader, MY, Bahalkeh, K, Barančok, P, Barrio, IC, Barros, A, Barthel, M, Basham, EW, Bauters, M, Bazzichetto, M, Belelli Marchesini, L, Bell, MC, Benavides, JC, Luis Benito Alonso, J, Berauer, BJ, Bjerke, JW, Björk, RG, Björkman, MP, Björnsdóttir, K, Blonder, B, Boeckx, P, Boike, J, Bokhorst, S, Brum, BNS, Brůna, J, Buchmann, N, Buysse, P, Luís Camargo, J, Campoe, OC, Candan, O, Canessa, R, Cannone, N, Carbognani, M, Carnicer, J, Casanova‐Katny, A, Cesarz, S, Chojnicki, B, Choler, P, Chown, SL, Cifuentes, EF, Čiliak, M, Contador, T, Convey, P, Cooper, EJ, Cremonese, E, Curasi, SR, Curtis, R, Cutini, M, Johan Dahlberg, C, Daskalova, GN, Angel de Pablo, M, Della Chiesa, S, Dengler, J, Deronde, B, Descombes, P, Di Cecco, V, Di Musciano, M, Dick, J, Dimarco, RD, Dolezal, J, Dorrepaal, E, Dušek, J, Eisenhauer, N, Eklundh, L, Erickson, TE, Erschbamer, B, Eugster, W, Ewers, RM, Exton, DA, Fanin, N, Fazlioglu, F, Feigenwinter, I, Fenu, G, Ferlian, O, Rosa Fernández Calzado, M, Fernández‐Pascual, E, Finckh, M, Finger Higgens, R, Forte, TGW, Freeman, EC, Frei, ER, Fuentes‐Lillo, E, García, RA, García, MB, Géron, C, Gharun, M, Ghosn, D, Gigauri, K, Gobin, A, Goded, I, Goeckede, M, Gottschall, F, Goulding, K, Govaert, S, Jessen Graae, B, Greenwood, S, Greiser, C, Grelle, A, Guénard, B, Guglielmin, M, Guillemot, J, Haase, P, Haider, S, Halbritter, AH, Hamid, M, Hammerle, A, Hampe, A, Haugum, SV, Hederová, L, Heinesch, B, Helfter, C, Hepenstrick, D, Herberich, M, Herbst, M, Hermanutz, L, Hik, DS, Hoffrén, R, Homeier, J, Hörtnagl, L, Høye, TT, Hrbacek, F, Hylander, K, Iwata, H, Antoni Jackowicz‐Korczynski, M, Jactel, H, Järveoja, J, Jastrzębowski, S, Jentsch, A, Jiménez, JJ, Jónsdóttir, IS, Jucker, T, Jump, AS, Juszczak, R, Kanka, R, Kašpar, V, Kazakis, G, Kelly, J, Khuroo, AA, Klemedtsson, L, Klisz, M, Kljun, N, Knohl, A, Kobler, J, Kollár, J, Kotowska, MM, Kovács, B, Kreyling, J, Lamprecht, A, Lang, SI, Larson, C, Larson, K, Laska, K, le Maire, G, Leihy, RI, Lens, L, Liljebladh, B, Lohila, A, Lorite, J, Loubet, B, Lynn, J, Macek, M, Mackenzie, R, Magliulo, E, Maier, R, Malfasi, F, Máliš, F, Man, M, Manca, G, Manco, A, Manise, T, Manolaki, P, Marciniak, F, Matula, R, Clara Mazzolari, A, Medinets, S, Medinets, V, Meeussen, C, Merinero, S, de Cássia Guimarães Mesquita, R, Meusburger, K, Meysman, FJR, Michaletz, ST, Milbau, A, Moiseev, D, Moiseev, P, Mondoni, A, Monfries, R, Montagnani, L, Moriana‐Armendariz, M, Morra di Cella, U, Mörsdorf, M, Mosedale, JR, Muffler, L, Muñoz‐Rojas, M, Myers, JA, Myers‐Smith, IH, Nagy, L, Nardino, M, Naujokaitis‐Lewis, I, Newling, Emily, Nicklas, L, Niedrist, G, Niessner, A, Nilsson, MB, Normand, S, Nosetto, MD, Nouvellon, Y, Nuñez, MA, Ogaya, R, Ogée, J, Okello, J, Olejnik, J, Eivind Olesen, J, Opedal, Ø, Orsenigo, S, Palaj, A, Pampuch, T, Panov, AV, Pärtel, M, Pastor, A, Pauchard, A, Pauli, H, Pavelka, M, Pearse, WD, Peichl, M, Pellissier, L, Penczykowski, RM, Penuelas, J, Petit Bon, M, Petraglia, A, Phartyal, SS, Phoenix, GK, Pio, C, Pitacco, A, Pitteloud, C, Plichta, R, Porro, F, Portillo‐Estrada, M, Poulenard, J, Poyatos, R, Prokushkin, AS, Puchalka, R, Pușcaș, M, Radujković, D, Randall, K, Ratier Backes, A, Remmele, S, Remmers, W, Renault, D, Risch, AC, Rixen, C, Robinson, SA, Robroek, BJM, Rocha, AV, Rossi, C, Rossi, G, Roupsard, O, Rubtsov, AV, Saccone, P, Sagot, C, Sallo Bravo, J, Santos, CC, Sarneel, JM, Scharnweber, T, Schmeddes, J, Schmidt, M, Scholten, T, Schuchardt, M, Schwartz, N, Scott, T, Seeber, J, Cristina Segalin de Andrade, A, Seipel, T, Semenchuk, P, Senior, RA, Serra‐Diaz, JM, Sewerniak, P, Shekhar, A, Sidenko, NV, Siebicke, L, Siegwart Collier, L, Simpson, E, Siqueira, DP, Sitková, Z, Six, J, Smiljanic, M, Smith, SW, Smith‐Tripp, S, Somers, B, Vedel Sørensen, M, João L. L. Souza, J, Israel Souza, B, Souza Dias, A, Spasojevic, MJ, Speed, JDM, Spicher, F, Stanisci, A, Steinbauer, K, Steinbrecher, R, Steinwandter, M, Stemkovski, M, Stephan, JG, Stiegler, C, Stoll, S, Svátek, M, Svoboda, M, Tagesson, T, Tanentzap, AJ, Tanneberger, F, Theurillat, J, Thomas, HJD, Thomas, AD, Tielbörger, K, Tomaselli, M, Albert Treier, U, Trouillier, M, Dan Turtureanu, P, Tutton, R, Tyystjärvi, VA, Ueyama, M, Ujházy, K, Ujházyová, M, Uogintas, D, Urban, AV, Urban, J, Urbaniak, M, Ursu, T, Primo Vaccari, F, Van de Vondel, S, van den Brink, L, Van Geel, M, Vandvik, V, Vangansbeke, P, Varlagin, A, Veen, GF, Veenendaal, E, Venn, Susanna, Verbeeck, H, Verbrugggen, E, Verheijen, FGA, Villar, L, Vitale, L, Vittoz, P, Vives‐Ingla, M, von Oppen, J, Walz, J, Wang, R, Wang, Y, Way, RG, Wedegärtner, REM, Weigel, R, Wild, J, Wilkinson, M, Wilmking, M, Wingate, L, Winkler, M, Wipf, S, Wohlfahrt, G, Xenakis, G, Yang, Y, Yu, Z, Yu, K, Zellweger, F, Zhang, J, Zhang, Z, Zhao, P, Ziemblińska, K, Zimmermann, R, Zong, S, Zyryanov, VI, Nijs, I, and Lenoir, J

Published
2021

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