2,891 results on '"Boer, E"'
Search Results
2. Halting targeted and collateral damage to red blood cells by the complement system
- Author
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Jalink, M., de Boer, E. C. W., Evers, D., Havinga, M. Q., Vos, J. M. I., Zeerleder, S., de Haas, M., and Jongerius, I.
- Published
- 2021
- Full Text
- View/download PDF
3. Identifying genetic causes of unexplained neurodevelopmental disorders and congenital anomalies: Lessons from systematic re-analysis, genotype-phenotype studies and innovative technology.
- Author
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Boer, E. de and Boer, E. de
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- Donders Series., Donders Center for Medical Neuroscience., Radboudumc 7: Neurodevelopmental disorders.
- Published
- 2024
4. The GALAH Survey: Scientific Motivation
- Author
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De Silva, G. M., Freeman, K. C., Bland-Hawthorn, J., Martell, S., de Boer, E. Wylie, Asplund, M., Keller, S., Sharma, S., Zucker, D. B., Zwitter, T., Anguiano, B., Bacigalupo, C., Bayliss, D., Beavis, M. A., Bergemann, M., Campbell, S., Cannon, R., Carollo, D., Casagrande, L., Casey, A. R., Da Costa, G., D'Orazi, V., Dotter, A., Duong, L., Heger, A., Ireland, M. J., Kafle, P. R., Kos, J., Lattanzio, J., Lewis, G. F., Lin, J., Lind, K., Munari, U., Nataf, D. M., O'Toole, S., Parker, Q. A., Reid, W., Schlesinger, K. J., Sheinis, A., Simpson, J. D., Stello, D., Ting, Y-S., Traven, G., Watson, F., Wittenmyer, R., Yong, D., and Zerjal, M.
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Astrophysics - Astrophysics of Galaxies ,Astrophysics - Instrumentation and Methods for Astrophysics ,Astrophysics - Solar and Stellar Astrophysics - Abstract
The GALAH survey is a large high-resolution spectroscopic survey using the newly commissioned HERMES spectrograph on the Anglo-Australian Telescope. The HERMES spectrograph provides high-resolution (R ~28,000) spectra in four passbands for 392 stars simultaneously over a 2 degree field of view. The goal of the survey is to unravel the formation and evolutionary history of the Milky Way, using fossil remnants of ancient star formation events which have been disrupted and are now dispersed throughout the Galaxy. Chemical tagging seeks to identify such dispersed remnants solely from their common and unique chemical signatures; these groups are unidentifiable from their spatial, photometric or kinematic properties. To carry out chemical tagging, the GALAH survey will acquire spectra for a million stars down to V~14. The HERMES spectra of FGK stars contain absorption lines from 29 elements including light proton-capture elements, alpha-elements, odd-Z elements, iron-peak elements and n-capture elements from the light and heavy s-process and the r-process. This paper describes the motivation and planned execution of the GALAH survey, and presents some results on the first-light performance of HERMES., Comment: 16 pages, 7 figures
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- 2015
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5. Middelbare scholieren met verhoogd ziekteverzuim en depressieve klachten op het spreekuur bij de jeugdarts
- Author
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Donders-Verhagen, A., de Boer, E., and Vanneste, Y. T. M.
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- 2021
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6. Avoiding Unnecessary Major Rectal Cancer Surgery by Implementing Structural Restaging and a Watch-and-Wait Strategy After Neoadjuvant Radiochemotherapy
- Author
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Huisman, J. F., Schoenaker, I. J. H., Brohet, R. M., Reerink, O., van der Sluis, H., Moll, F. C. P., de Boer, E., de Graaf, J. C., de Vos tot Nederveen Cappel, W. H., Beets, G. L., and van Westreenen, H. L.
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- 2021
- Full Text
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7. Lessons learned during implementation of MR-guided High-Intensity Focused Ultrasound treatment of uterine fibroids
- Author
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Anneveldt, K. J., Verpalen, I. M., Nijholt, I. M., Dijkstra, J. R., van den Hoed, R. D., van’t Veer-ten Kate, M., de Boer, E., van Osch, J. A. C., Heijman, E., Naber, H. R., Ista, E., Franx, A., Veersema, S., Huirne, J. A. F., Schutte, J. M., and Boomsma, M. F.
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- 2021
- Full Text
- View/download PDF
8. The RAdial Velocity Experiment (RAVE): Fourth data release
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Kordopatis, G., Gilmore, G., Steinmetz, M., Boeche, C., Seabroke, G. M., Siebert, A., Zwitter, T., Binney, J., de Laverny, P., Recio-Blanco, A., Williams, M. E. K., Piffl, T., Enke, H., Roeser, S., Bijaoui, A., Wyse, R. F. G., Freeman, K., Munari, U., Carillo, I., Anguiano, B., Burton, D., Campbell, R., Cass, C. J. P., Fiegert, K., Hartley, M., Parker, Q. A., Reid, W., Ritter, A., Russell, K. S., Stupart, M., Watson, F. G., Bienayme, O., Bland-Hawthorn, J., Gerhard, O., Gibson, B. K., Grebel, E. K., Helmi, A., Navarro, J. F., Conrad, C., Famaey, B., Faure, C., Just, A., Kos, J., Matijevic, G., McMillan, P. J., Minchev, I., Scholz, R., Sharma, S., Siviero, A., de Boer, E. Wylie, and Zerjal, M.
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Astrophysics - Astrophysics of Galaxies ,Astrophysics - Solar and Stellar Astrophysics - Abstract
We present the stellar atmospheric parameters (effective temperature, surface gravity, overall metallicity), radial velocities, individual abundances and distances determined for 425 561 stars, which constitute the fourth public data release of the RAdial Velocity Experiment (RAVE). The stellar atmospheric parameters are computed using a new pipeline, based on the algorithms of MATISSE and DEGAS. The spectral degeneracies and the 2MASS photometric information are now better taken into consideration, improving the parameter determination compared to the previous RAVE data releases. The individual abundances for six elements (magnesium, aluminum, silicon, titanium, iron and nickel) are also given, based on a special-purpose pipeline which is also improved compared to that available for the RAVE DR3 and Chemical DR1 data releases. Together with photometric information and proper motions, these data can be retrieved from the RAVE collaboration website and the Vizier database., Comment: 40 pages, 36 figures, accepted in AJ
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- 2013
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9. ARGOS IV: The Kinematics of the Milky Way Bulge
- Author
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Ness, M., Freeman, K., Athanassoula, E., Wylie-de-Boer, E., Bland-Hawthorn, J., Asplund, M., Lewis, G. F, Yong, D., Lane, R. R., Kiss, L. L, and Ibata, R.
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Astrophysics - Astrophysics of Galaxies - Abstract
We present the kinematic results from our ARGOS spectroscopic survey of the Galactic bulge of the Milky Way. Our aim is to understand the formation of the Galactic bulge. We examine the kinematics of about 17,400 stars in the bulge located within 3.5 kpc of the Galactic centre, identified from the 28,000 star ARGOS survey. We aim to determine if the formation of the bulge has been internally driven from disk instabilities as suggested by its boxy shape, or if mergers have played a significant role as expected from Lambda CDM simulations. From our velocity measurements across latitudes b = -5 deg, -7.5 deg and -10 deg we find the bulge to be a cylindrically rotating system that transitions smoothly out into the disk. Within the bulge, we find a kinematically distinct metal-poor population ([Fe/H] < -1.0) that is not rotating cylindrically. The 5% of our stars with [Fe/H] < -1.0 are a slowly rotating spheroidal population, which we believe are stars of the metal weak thick disk and halo which presently lie in the inner Galaxy. The kinematics of the two bulge components that we identified in ARGOS paper III (mean [Fe/H] = -0.25 and [Fe/H] = +0.15, respectively) demonstrate that they are likely to share a common formation origin and are distinct from the more metal poor populations of the thick disk and halo which are colocated inside the bulge. We do not exclude an underlying merger generated bulge component but our results favour bulge formation from instabilities in the early thin disk., Comment: Accepted MNRAS 25 March 2013, 12 pages, 11 figures
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- 2013
- Full Text
- View/download PDF
10. The Asymptotic Giant Branches of GCs: Selective Entry Only
- Author
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Campbell, S. W., D'Orazi, V., Constantino, T. N., Yong, D., Lattanzio, J. C., Angelou, G. C., Boer, E. C. Wylie-de, Stancliffe, R. J., Martell, S. L., and Grundahl, F.
- Subjects
Astrophysics - Solar and Stellar Astrophysics - Abstract
The handful of available observations of AGB stars in Galactic Globular Clusters suggest that the GC AGB populations are dominated by cyanogen-weak stars. This contrasts strongly with the distributions in the RGB (and other) populations, which generally show a 50:50 bimodality in CN band strength. If it is true that the AGB populations show very different distributions then it presents a serious problem for low mass stellar evolution theory, since such a surface abundance change going from the RGB to AGB is not predicted by stellar models. However this is only a tentative conclusion, since it is based on very small AGB sample sizes. To test whether this problem really exists we have carried out an observational campaign specifically targeting AGB stars in GCs. We have obtained medium resolution spectra for about 250 AGB stars across 9 Galactic GCs using the multi-object spectrograph on the AAT (2df/AAOmega). We present some of the preliminary findings of the study for the second parameter trio of GCs: NGC 288, NGC 362 and NGC 1851. The results indeed show that there is a deficiency of stars with strong CN bands on the AGB. To confirm that this phenomenon is robust and not just confined to CN band strengths and their vagaries, we have made observations using FLAMES/VLT to measure elemental abundances for NGC 6752.We present some initial results from this study also. Our sodium abundance results show conclusively that only a subset of stars in GCs experience the AGB phase of evolution. This is the first direct, concrete confirmation of the phenomenon., Comment: 4 pages, to appear in conference proceedings of "Reading the book of globular clusters with the lens of stellar evolution", Rome, 26-28 November 2012
- Published
- 2013
11. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
- Author
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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
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- 2023
12. ARGOS III: Stellar Populations in the Galactic Bulge of the Milky Way
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Ness, M., Freeman, K., Athanassoula, E., de Boer, E. Wylie, Hawthorn, J. Bland, Asplund, M., Lewis, G. F., Yong, D., Lane, R. R., and Kiss, L. L.
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Astrophysics - Astrophysics of Galaxies - Abstract
We present the metallicity results from the ARGOS spectroscopic survey of the Galactic bulge. Our aim is to understand the formation of the Galactic bulge: did it form via mergers, as expected from Lambda CDM theory, or from disk instabilities, as suggested by its boxy/peanut shape, or both? We have obtained spectra for 28,000 stars at a spectral resolution of R = 11,000. From these spectra, we have determined stellar parameters and distances to an accuracy of < 1.5 kpc. The stars in the inner Galaxy span a large range in [Fe/H], -2.8 < [Fe/H] < +0.6. From the spatial distribution of the red clump stars as a function of [Fe/H] (Ness et al. 2012a), we propose that the stars with [Fe/H] > -0.5 are part of the boxy/peanut bar/bulge. We associate the lower metallicity stars ([Fe/H] < -0.5) with the thick disk, which may be puffed up in the inner region, and with the inner regions of the metal-weak thick disk and inner halo. For the bulge stars with [Fe/H] > -0.5, we find two discrete populations; (i) stars with [Fe/H] ~ -0.25 which provide a roughly constant fraction of the stars in the latitude interval b = -5 deg to -10 deg, and (ii) a kinematically colder, more metal-rich population with mean [Fe/H] ~ +0.15 which is more prominent closer to the plane. The changing ratio of these components with latitude appears as a vertical abundance gradient of the bulge. We attribute both of these bulge components to instability-driven bar/bulge formation from the thin disk. We do not exclude a weak underlying classical merger-generated bulge component, but see no obvious kinematic association of any of our bulge stars with such a classical bulge component. [abridged], Comment: Accepted MNRAS, 21 pages, 20 figures, 6 tables
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- 2012
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13. ARGOS II: The Galactic Bulge Survey
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Freeman, K., Ness, M., de Boer, E. Wylie, Athanassoula, E., Hawthorn, J. Bland, Asplund, M., Lewis, G., Yong, D., Lane, R., Kiss, L., and Ibata, R.
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Astrophysics - Galaxy Astrophysics - Abstract
We describe the motivation, field locations and stellar selection for the ARGOS spectroscopic survey of 28,000 stars in the bulge and inner disk of the Milky Way galaxy across latitudes of b = -5 deg to -10 deg. The primary goal of this survey is to constrain the formation processes of the bulge and establish whether it is predominantly a merger or instability remnant. From the spectra (R = 11,000), we have measured radial velocities and determined stellar parameters, including metallicities and [alpha/Fe] ratios. Distances were estimated from the derived stellar parameters and about 14,000 stars are red giants within 3.5 kpc of the Galactic centre. In this paper, we present the observations and analysis methods. Subsequent papers (III and IV) will discuss the stellar metallicity distribution and kinematics of the Galactic bulge and inner disk, and the implications for the formation of the bulge., Comment: accepted MNRAS, 13 pages, 10 figures; Monthly Notices of the Royal Astronomical Society 2012
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- 2012
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14. An objective assessment of the utility of a driving simulator for low mu testing
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Romano, R., Markkula, G., Boer, E., Jamson, H., Bean, A., Tomlinson, A., Horrobin, A., and Sadraei, E.
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- 2019
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15. Cyanogen in NGC 1851 RGB and AGB Stars: Quadrimodal Distributions
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Campbell, S. W., Yong, D., Boer, E. C. Wylie-de, Stancliffe, R. J., Lattanzio, J. C., Angelou, G. C., D'Orazi, V., Martell, S. L., Grundahl, F., and Sneden, C.
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Astrophysics - Solar and Stellar Astrophysics ,Astrophysics - Astrophysics of Galaxies - Abstract
The Galactic globular cluster NGC 1851 has raised much interest since HST photometry revealed that it hosts a double subgiant branch. Here we report on our homogeneous study into the cyanogen (CN) bandstrengths in the RGB population (17 stars) and AGB population (21 stars) using AAOmega/2dF spectra with R $\sim 3000$. We discover that NGC 1851 hosts a quadrimodal distribution of CN bandstrengths in its RGB and AGB populations. This result supports the merger formation scenario proposed for this cluster, such that the CN quadrimodality could be explained by the superposition of two `normal' bimodal populations. A small sample overlap with an abundance catalogue allowed us to tentatively explore the relationship between our CN populations and a range of elemental abundances. We found a striking correlation between CN and [O/Na]. We also found that the four CN peaks may be paired -- the two CN-weaker populations being associated with low Ba and the two CN-stronger populations with high Ba. If true then s-process abundances would be a good diagnostic for disentangling the two original clusters in the merger scenario. More observations are needed to confirm the quadrimodality, and also the relationship between the subpopulations. We also report CN results for NGC 288 as a comparison. Our relatively large samples of AGB stars show that both clusters have a bias towards CN-weak AGB populations., Comment: 6 pages, 4 figures. Accepted for publication in ApJ Letters
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- 2012
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16. The origin of the split red clump in the Galactic bulge of the Milky Way
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Ness, M., Freeman, K., Athanassoula, E., Wylie-de-Boer, E., Bland-Hawthorn, J., Lewis, G. F., Yong, D., Asplund, M., Lane, R. R., Kiss, L. L, and Ibata, R.
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Astrophysics - Astrophysics of Galaxies - Abstract
Near the minor axis of the Galactic bulge, at latitudes b < -5 degrees, the red giant clump stars are split into two components along the line of sight. We investigate this split using the three fields from the ARGOS survey that lie on the minor axis at (l,b) = (0,-5), (0,-7.5), (0,-10) degrees. The separation is evident for stars with [Fe/H] > -0.5 in the two higher-latitude fields, but not in the field at b = -5 degrees. Stars with [Fe/H] < -0.5 do not show the split. We compare the spatial distribution and kinematics of the clump stars with predictions from an evolutionary N-body model of a bulge that grew from a disk via bar-related instabilities. The density distribution of the peanut-shaped model is depressed near its minor axis. This produces a bimodal distribution of stars along the line of sight through the bulge near its minor axis, very much as seen in our observations. The observed and modelled kinematics of the two groups of stars are also similar. We conclude that the split red clump of the bulge is probably a generic feature of boxy/peanut bulges that grew from disks, and that the disk from which the bulge grew had relatively few stars with [Fe/H] < -0.5, Comment: 12 pages, 9 figures, accepted for publication in ApJ
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- 2012
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17. The RAdial Velocity Experiment (RAVE): Third Data Release
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Siebert, A., Williams, M. E. K., Siviero, A., Reid, W., Boeche, C., Steinmetz, M., Fulbright, J., Munari, U., Zwitter, T., Watson, F. G., Wyse, R. F. G., de Jong, R. S., Enke, H., Anguiano, B., Burton, D., Cass, C. J. P., Fiegert, K., Hartley, M., Ritter, A., Russel, K. S., Stupar, M., Bienayme, O., Freeman, K. C., Gilmore, G., Grebel, E. K., Helmi, A., Navarro, J. F., Binney, J., Bland-Hawthorn, J., Campbell, R., Famaey, B., Gerhard, O., Gibson, B. K., Matijevic, G., Parker, Q. A., Seabroke, G. M., Sharma, S., Smith, M. C., and Boer, E. Wylie-de
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Astrophysics - Astrophysics of Galaxies - Abstract
We present the third data release of the RAdial Velocity Experiment (RAVE) which is the first milestone of the RAVE project, releasing the full pilot survey. The catalog contains 83,072 radial velocity measurements for 77,461 stars in the southern celestial hemisphere, as well as stellar parameters for 39,833 stars. This paper describes the content of the new release, the new processing pipeline, as well as an updated calibration for the metallicity based upon the observation of additional standard stars. Spectra will be made available in a future release. The data release can be accessed via the RAVE webpage: http://www.rave-survey.org., Comment: AJ accepted. 54 pages, 20 figures. Figure 17 in low resolution mode
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- 2011
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18. The case of the disappearing CN-strong AGB stars in Galactic globular clusters -- Preliminary Results
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Campbell, S. W., Yong, D., Boer, E. C. Wylie-de, Stancliffe, R. J., Lattanzio, J. C., Angelou, G. C., Grundahl, F., and Sneden, C.
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Astrophysics - Solar and Stellar Astrophysics ,Astrophysics - Galaxy Astrophysics - Abstract
A previously reported literature search suggested that the AGB stars in Galactic globular clusters may be showing different distributions of CN-strong and CN-weak stars as compared to their RGB stars. In most cases the second giant branches of GCs appeared to be deficient in stars with strong CN bands. However the sample sizes of AGB stars at that time were too small to give a definitive picture. Thus an observing campaign targeting GC AGB stars was proposed. We now have medium resolution spectral observations of about 250 GC AGB stars across 9 globular clusters, obtained with the 2dF/AAOmega instrument on the Anglo-Australian Telescope. In this paper we report some preliminary results regarding the distributions of CN-strong and CN-weak stars on the two giant branches of a selection of globular clusters. We find that some GCs show a total lack of CN-strong stars on the AGB, whilst some show a reduction in CN-strong stars as compared to the RGB. Standard stellar evolution does not predict this change in surface abundance between the two giant branches. We discuss some possible causes of this unexpected phenomenon., Comment: 6 pages, 3 figures, to appear in the proceedings of the "10th Torino Workshop on Asymptotic Giant Branch Nucleosynthesis: From Rutherford to Beatrice Tinsley and Beyond", Eds.: C. C. Worley, C. A. Tout & R. J. Stancliffe
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- 2010
19. Evidence of tidal debris from Omega Cen in the Kapteyn Group
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Boer, E. C. Wylie-de, Freeman, K. C., and Williams, M.
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Astrophysics - Solar and Stellar Astrophysics ,Astrophysics - Astrophysics of Galaxies - Abstract
This paper presents a detailed kinematic and chemical analysis of 16 members of the Kapteyn moving group. The group does not appear to be chemically homogenous. However, the kinematics and the chemical abundance patterns seen in 14 of the stars in this group are similar to those observed in the well-studied cluster, Omega Centauri. Some members of this moving group may be remnants of the tidal debris of Omega Cen, left in the Galactic disk during the merger event which deposited Omega Cen into the Milky Way., Comment: 30 pages, 9 figures, 11 tables. Accepted for publication in AJ
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- 2009
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20. Differential chemical abundance analysis of a 47 Tuc AGB star with respect to Arcturus
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Worley, C. C., Cottrell, P. L., Freeman, K. C., and Boer, E. C. Wylie-de
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Astrophysics - Solar and Stellar Astrophysics - Abstract
This study resolves a discrepancy in the abundance of Zr in the 47 Tucanae asymptotic giant branch star Lee 2525. This star was observed using the echelle spectrograph on the 2.3 m telescope at Siding Spring Observatory. The analysis was undertaken by calibrating Lee 2525 with respect to the standard giant star Arcturus. This work emphasises the importance of using a standard star with stellar parameters comparable to the star under analysis rather than a calibration with respect to the Sun (Koch & McWilliam 2008). Systematic errors in the analysis process are then minimised due to the similarity in atmospheric structure between the standard and programme stars. The abundances derived for Lee 2525 were found to be in general agreement with the Brown & Wallerstein (1992) values except for Zr. In this study Zr has a similar enhancement ([Zr/Fe] = +0.51 dex) to another light s-process element, Y ([Y/Fe] = +0.53 dex), which reflects current theory regarding the enrichment of s-process elements by nuclear processes within AGB stars (Busso et al. 2001). This is contrary to the results of Brown & Wallerstein (1992) where Zr was under-abundant ([Zr/Fe] = +0.51 dex) and Y was over-abundant ([Y/Fe] = +0.50 dex) with respect to Fe., Comment: 11 pages, 5 figures Accepted for publication in MNRAS
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- 2009
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21. Element enhancements along the entire AGB phase
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Boer, E. C. Wylie-de and Cottrell, P. L.
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Astrophysics - Abstract
The results of a study of the AGB phase of stellar evolution are presented. Abundances have been determined for Fe, C, O, the light s-process elements, Y and Zr, the heavy s-process elements, La and Nd, and the r-process element, Eu. The expected relationship between enhanced C, increasing C/O ratio and enhanced s-process elements has been quantified. Results are presented to provide observational data with which to compare theoretical predictions. The results in this paper confirm previously suggested relationships between C, C/O and s-process element enhancements. It is seen that AGB stars show C/O ratios from C/O around 0.4 to 1.0, while C enhancements lie between [C/Fe]=0.1 to 0.9 dex. Enhancements of s-process elements are as much as [s/Fe] around 1.0 dex for the stars in which C is also greatly enhanced., Comment: 30 pages 9 figures Accepted to ApJ
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- 2008
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22. The Radial Velocity Experiment (RAVE): second data release
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Zwitter, T., Siebert, A., Munari, U., Freeman, K. C., Siviero, A., Watson, F. G., Fulbright, J. P., Wyse, R. F. G., Campbell, R., Seabroke, G. M., Williams, M., Steinmetz, M., Bienayme, O., Gilmore, G., Grebel, E. K., Helmi, A., Navarro, J. F., Anguiano, B., Boeche, C., Burton, D., Cass, P., Dawe, J., Fiegert, K., Hartley, M., Russell, K., Veltz, L., Bailin, J., Binney, J., Bland-Hawthorn, J., Brown, A., Dehnen, W., Evans, N. W., Fiorentin, P. Re, Fiorucci, M., Gerhard, O., Gibson, B., Kelz, A., Kujken, K., Matijevic, G., Minchev, I., Parker, Q. A., Penarrubia, J., Quillen, A., Read, M. A., Reid, W., Roeser, S., Ruchti, G., Scholz, R. -D., Smith, M. C., Sordo, R., Tolstoi, E., Tomasella, L., Vidrih, S., and de Boer, E. Wylie
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Astrophysics - Abstract
We present the second data release of the Radial Velocity Experiment (RAVE), an ambitious spectroscopic survey to measure radial velocities (RVs) and stellar atmosphere parameters of up to one million stars using the 6dF multi-object spectrograph on the 1.2-m UK Schmidt Telescope of the Anglo-Australian Observatory (AAO). It is obtaining medium resolution spectra (median R=7,500) in the Ca-triplet region (8,410--8,795 \AA) for southern hemisphere stars in the magnitude range 9
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- 2008
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23. s- and r-process element abundances in the CMD of 47 Tucanae using the Robert Stobie Spectrograph on SALT
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Worley, C. C., Cottrell, P. L., and de Boer, E. C. Wylie
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Astrophysics - Abstract
A recent study by Wylie et al 2006 has revealed that s-process element abundances are enhanced relative to iron in both red giant branch and asymptotic giant branch stars of 47 Tucanae. A more detailed investigation into s-process element abundances throughout the colour-magnitude diagram of 47 Tucanae is vital in order to determine whether the observed enhancements are intrinsic to the cluster. This paper explores this possibility through observational and theoretical means. The visibility of s- and r-process element lines in synthetic spectra of giant and dwarf stars throughout the colour magnitude diagram of 47 Tucanae has been explored. It was determined that a resolving power of 10 000 was sufficient to observe s-process element abundance variations in globular cluster giant branch stars. These synthetic results were compared with the spectra of eleven 47 Tucanae giant branch stars observed during the performance verification of the Robert Stobie Spectrograph on the Southern African Large Telescope. Three s-process elements, Zr, Ba, Nd, and one r-process element, Eu, were investigated. No abundance variations were found such that [X/Fe] = 0.0 +/- 0.5 dex. It was concluded that this resolving power, R ~ 5000, was not sufficient to obtain exact abundances but upper limits on the s-process element abundances could be determined., Comment: 7 pages, 11 figures
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- 2008
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24. Prehospital antibiotics in the ambulance for sepsis: a multicentre, open label, randomised trial
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Alam, N., Nanayakkara, P.W.B., Oskam, E., Stassen, P.M., Haak, H.R., Holleman, F., Nannan Panday, R.S., Duineveld, B.A.M., van Exter, P., van de Ven, P.M., Bon, V., Goselink, J., De Kreek, A., van Grunsven, P., Biekart, M., Deddens, G.J., Weijschede, F., Rijntjes, N., Franschman, G., Janssen, J., Frenken, J., Versluis, J., Boomars, R., de Vries, G., den Boer, E., van Gent, A., Willeboer, M., Buunk, G., Timmers, G.J., Snijders, F., Posthuma, N., Stoffelen, S., Claassens, S., Ammerlaan, H., Sankatsing, S., Alsma, J., van Zanten, A., Slobbe, L., de Melo, M.M., Dees, A., Carels, G., Wabbijn, M., van Leeuwen-Nguyen, T.T.H., Assink, J., van der Honing, A., Luik, P., Poortvliet, W., Schouten, W.E.M., Veenstra, J., Holkenborg, J., Cheung, T.C., van Bokhorst, J., Kors, B., Louis- Wattel, G.H., Roeleveld, T., Toorians, A., Jellema, W., Govers, A., Kaasjager, H.A.H., Dekker, D., Verhoeven, M.A.M., Kramer, M.H.H., Flietstra, T., Roest, L., Peters, E.J.G., Hekker, T.A.M., Ang, W., van der Wekken, W., Ghaem Maghami, P., Kanen, B., Wesselius, H., Heesterman, L., Zwietering, A.N., Stoffers, J., Alam, Nadia, Oskam, Erick, Stassen, Patricia M, Exter, Pieternel van, van de Ven, Peter M, Haak, Harm R, Holleman, Frits, Zanten, Arthur van, Leeuwen-Nguyen, Hien van, Bon, Victor, Duineveld, Bart A M, Nannan Panday, Rishi S, Kramer, Mark H H, and Nanayakkara, Prabath W B
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- 2018
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25. Systematic review of catatonia treatment
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Pelzer ACM, van der Heijden FMMA, and den Boer E
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review [MeSH] ,catatonia [MeSH] ,therapeutics [MeSH] ,electroconvulsive therapy [MeSH] ,benzodiazepines [MeSH] ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Anne CM Pelzer,1 Frank MMA van der Heijden,2 Erik den Boer3 1Department of Psychiatry, Reinier van Arkel, ‘s-Hertogenbosch, 2Department of Psychiatry, Vincent van Gogh Institute for Psychiatry, Venlo, 3Department of Psychiatry, GGzE, Eindhoven, the Netherlands Objective: To investigate the evidence-based treatment of catatonia in adults. The secondary aim is to develop a treatment protocol. Materials and methods: A systematic review of published treatment articles (case series, cohort or randomized controlled studies) which examined the effects of particular interventions for catatonia and/or catatonic symptoms in adult populations and used valid outcome measures was performed. The articles for this review were selected by searching the electronic databases of the Cochrane Library, MEDLINE, EMBASE and PSYCHINFO. Results: Thirty-one articles met the inclusion criteria. Lorazepam and electroconvulsive therapy (ECT) proved to be the most investigated treatment interventions. The response percentages in Western studies varied between 66% and 100% for studies with lorazepam, while in Asian and Indian studies, they were 0% and 100%. For ECT, the response percentages are 59%–100%. There does not seem to be evidence for the use of antipsychotics in catatonic patients without any underlying psychotic disorder. Conclusion: Lorazepam and ECT are effective treatments for which clinical evidence is found in the literature. It is not possible to develop a treatment protocol because the evidence for catatonia management on the basis of the articles reviewed is limited. Stringent treatment studies on catatonia are warranted. Keywords: review, catatonia, therapeutics, electroconvulsive therapy, benzodiazepines, lorazepam, ECT
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- 2018
26. Escherichia coli O157 Infection Associated with a Petting Zoo
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Heuvelink, A. E., van Heerwaarden, C., Zwartkruisnahuis, J. T. M., van Oosterom, R., Edink, K., and de Boer, E.
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- 2002
27. Comment mettre en place le case management et le suivi intensif lors des phases précoces ?
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de Boer, E., primary, Bonsack, C., additional, and Conus, P., additional
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- 2019
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28. Central interference in driving - Is there any stopping the psychological refractory period?
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Levy, J, Pashler, H, and Boer, E
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dual-task interference ,central bottleneck ,task performance ,automobile driving - Abstract
Participants attempted to perform two tasks concurrently during simulated driving. In the choice task, they responded either manually or vocally to the number of times a visual or auditory stimulus occurred; in the braking task, they depressed a brake pedal in response to the lead car's brake lights. The time delay between the onset of the tasks' stimuli, or stimulus onset asynchrony (SOA), was varied. The tasks were differentially affected by the manipulations. Brake reaction times increased as SOA was reduced, showing the psychological refractory period effect, whereas the choice task showed large effects of the stimulus and response modalities but only a small effect of SOA. These results demonstrate that a well-practiced "simple" task such as vehicle braking is subject to dual-task slowing and extend the generality of the central-bottleneck model.
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- 2006
29. Sphingolipid Regulation of Lysosomal Initiation of Autophagy in Human Lung Microvascular Endothelial Cells Exposed to Cigarette Smoke
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Borowiec, A., primary, De Boer, E., additional, Babbs, B., additional, Egersdorf, N.W., additional, Dubois, B., additional, Bronova, I., additional, Berdyshev, E., additional, and Petrache, I., additional
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- 2023
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30. A complex structural variant near SOX3 causes X-linked split-hand/foot malformation.
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Boer, E. de, Marcelis, C.L., Neveling, K., Beusekom, E. van, Hoischen, A., Klein, W.M., Leeuw, N. de, Mantere, T., Melo, U.S., Reeuwijk, J. van, Smeets, D.F., Spielmann, M., Kleefstra, T., Bokhoven, H. van, Vissers, L.E.L.M., Boer, E. de, Marcelis, C.L., Neveling, K., Beusekom, E. van, Hoischen, A., Klein, W.M., Leeuw, N. de, Mantere, T., Melo, U.S., Reeuwijk, J. van, Smeets, D.F., Spielmann, M., Kleefstra, T., Bokhoven, H. van, and Vissers, L.E.L.M.
- Abstract
Contains fulltext : 293172.pdf (Publisher’s version ) (Open Access), Split-hand/foot malformation (SHFM) is a congenital limb defect most typically presenting with median clefts in hands and/or feet, that can occur in a syndromic context as well as in isolated form. SHFM is caused by failure to maintain normal apical ectodermal ridge function during limb development. Although several genes and contiguous gene syndromes are implicated in the monogenic etiology of isolated SHFM, the disorder remains genetically unexplained for many families and associated genetic loci. We describe a family with isolated X-linked SHFM, for which the causative variant could be detected after a diagnostic journey of 20 years. We combined well-established approaches including microarray-based copy number variant analysis and fluorescence in situ hybridization coupled with optical genome mapping and whole genome sequencing. This strategy identified a complex structural variant (SV) comprising a 165-kb gain of 15q26.3 material ([GRCh37/hg19] chr15:99795320-99960362dup) inserted in inverted position at the site of a 38-kb deletion on Xq27.1 ([GRCh37/hg19] chrX:139481061-139518989del). In silico analysis suggested that the SV disrupts the regulatory framework on the X chromosome and may lead to SOX3 misexpression. We hypothesize that SOX3 dysregulation in the developing limb disturbed the fine balance between morphogens required for maintaining AER function, resulting in SHFM in this family.
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- 2023
31. History and highlights of the teratological collection in the Narrenturm, Vienna (Austria).
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Boer, L.L., Kircher, S.G., Rehder, H., Behunova, J., Winter, E., Ringl, H., Scharrer, A., Boer, E. de, Oostra, R.J., Boer, L.L., Kircher, S.G., Rehder, H., Behunova, J., Winter, E., Ringl, H., Scharrer, A., Boer, E. de, and Oostra, R.J.
- Abstract
Item does not contain fulltext, The collection of the Narrenturm in Vienna houses and maintains more than 50,000 objects including approximately 1200 teratological specimens; making it one of the biggest collections of specimens from human origin in Europe. The existence of this magnificent collection-representing an important resource for dysmorphology research, mostly awaiting contemporary diagnoses-is not widely known in the scientific community. Here, we show that the Narrenturm harbors a wealth of specimens with (exceptionally) rare congenital anomalies. These museums can be seen as physical repositories of human malformation, covering hundreds of years of dedicated collecting and preserving, thereby creating unique settings that can be used to expand our knowledge of developmental conditions that have to be preserved for future generations of scientists.
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- 2023
32. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
- Author
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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
33. A complex structural variant near SOX3 causes X-linked split-hand/foot malformation
- Author
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de Boer, E. (Elke), Marcelis, C. (Carlo), Neveling, K. (Kornelia), van Beusekom, E. (Ellen), Hoischen, A. (Alexander), Klein, W. M. (Willemijn M.), de Leeuw, N. (Nicole), Mantere, T. (Tuomo), Melo, U. S. (Uirá S.), van Reeuwijk, J. (Jeroen), Smeets, D. (Dominique), Spielmann, M. (Malte), Kleefstra, T. (Tjitske), van Bokhoven, H. (Hans), Vissers, L. E. (Lisenka E. L. M.), de Boer, E. (Elke), Marcelis, C. (Carlo), Neveling, K. (Kornelia), van Beusekom, E. (Ellen), Hoischen, A. (Alexander), Klein, W. M. (Willemijn M.), de Leeuw, N. (Nicole), Mantere, T. (Tuomo), Melo, U. S. (Uirá S.), van Reeuwijk, J. (Jeroen), Smeets, D. (Dominique), Spielmann, M. (Malte), Kleefstra, T. (Tjitske), van Bokhoven, H. (Hans), and Vissers, L. E. (Lisenka E. L. M.)
- Abstract
Summary Split-hand/foot malformation (SHFM) is a congenital limb defect most typically presenting with median clefts in hands and/or feet, that can occur in a syndromic context as well as in isolated form. SHFM is caused by failure to maintain normal apical ectodermal ridge function during limb development. Although several genes and contiguous gene syndromes are implicated in the monogenic etiology of isolated SHFM, the disorder remains genetically unexplained for many families and associated genetic loci. We describe a family with isolated X-linked SHFM, for which the causative variant could be detected after a diagnostic journey of 20 years. We combined well-established approaches including microarray-based copy number variant analysis and fluorescence in situ hybridization coupled with optical genome mapping and whole genome sequencing. This strategy identified a complex structural variant (SV) comprising a 165-kb gain of 15q26.3 material ([GRCh37/hg19] chr15:99795320-99960362dup) inserted in inverted position at the site of a 38-kb deletion on Xq27.1 ([GRCh37/hg19] chrX:139481061-139518989del). In silico analysis suggested that the SV disrupts the regulatory framework on the X chromosome and may lead to SOX3 misexpression. We hypothesize that SOX3 dysregulation in the developing limb disturbed the fine balance between morphogens required for maintaining AER function, resulting in SHFM in this family.
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- 2023
34. PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
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Dingemans, A.J.M., Hinne, M., Truijen, K.M.G., Goltstein, C.M.J., Reeuwijk, J. van, Leeuw, N. de, Schuurs-Hoeijmakers, J.H.M., Pfundt, R.P., Diets, I.J., Hoed, J. den, Boer, E. de, Spek, J. van der, Bon, B.W.M. van, Ockeloen, C.W., Vulto-van Silfhout, A.T., Kleefstra, T., Koolen, D.A., Campeau, P.M., Palmer, E.E., Esch, H. van, Lyon, G.J., Alkuraya, F.S., Rauch, A., Marom, R., Baralle, D., Sluijs, P.J. van der, Santen, G.W.E., Kooy, R.F., Gerven, M.A.J. van, Vissers, L.E.L.M., Vries, L.B.A. de, Dingemans, A.J.M., Hinne, M., Truijen, K.M.G., Goltstein, C.M.J., Reeuwijk, J. van, Leeuw, N. de, Schuurs-Hoeijmakers, J.H.M., Pfundt, R.P., Diets, I.J., Hoed, J. den, Boer, E. de, Spek, J. van der, Bon, B.W.M. van, Ockeloen, C.W., Vulto-van Silfhout, A.T., Kleefstra, T., Koolen, D.A., Campeau, P.M., Palmer, E.E., Esch, H. van, Lyon, G.J., Alkuraya, F.S., Rauch, A., Marom, R., Baralle, D., Sluijs, P.J. van der, Santen, G.W.E., Kooy, R.F., Gerven, M.A.J. van, Vissers, L.E.L.M., and Vries, L.B.A. de
- Abstract
07 augustus 2023, Item does not contain fulltext, Several molecular and phenotypic algorithms exist that establish genotype–phenotype correlations, including facial recognition tools. However, no unified framework that investigates both facial data and other phenotypic data directly from individuals exists. We developed PhenoScore: an open-source, artificial intelligence-based phenomics framework, combining facial recognition technology with Human Phenotype Ontology data analysis to quantify phenotypic similarity. Here we show PhenoScore’s ability to recognize distinct phenotypic entities by establishing recognizable phenotypes for 37 of 40 investigated syndromes against clinical features observed in individuals with other neurodevelopmental disorders and show it is an improvement on existing approaches. PhenoScore provides predictions for individuals with variants of unknown significance and enables sophisticated genotype–phenotype studies by testing hypotheses on possible phenotypic (sub)groups. PhenoScore confirmed previously known phenotypic subgroups caused by variants in the same gene for SATB1, SETBP1 and DEAF1 and provides objective clinical evidence for two distinct ADNP-related phenotypes, already established functionally.
- Published
- 2023
35. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
- Author
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Tenney, A.P., Gioia, S.A. Di, Webb, B.D., Chan, W.M., Boer, E. de, Garnai, S.J., Barry, B.J., Ray, T., Kosicki, M., Robson, C.D., Zhang, Zhongyang, Collins, T.E., Gelber, A., Pratt, B.M., Fujiwara, Y., Varshney, A., Lek, M., Warburton, P.E., Ryzin, C. Van, Lehky, T.J., Zalewski, C., King, K.A., Brewer, C.C., Thurm, A., Snow, J., Facio, F.M., Narisu, N., Bonnycastle, L.L., Swift, A., Chines, P.S., Bell, J.L., Mohan, S., Whitman, M.C., Staffieri, S.E., Elder, J.E., Demer, J.L., Torres, A., Rachid, E., Al-Haddad, C., Boustany, R.M., Mackey, D.A., Brady, A.F., Fenollar-Cortés, M., Fradin, M., Kleefstra, T., Padberg, G.W., Raskin, S., Sato, M.T., Orkin, S.H., Parker, S.C.J., Hadlock, T.A., Vissers, L.E.L.M., Bokhoven, H. van, Jabs, E.W., Collins, F.S., Pennacchio, L.A., Manoli, I., Engle, E.C., Tenney, A.P., Gioia, S.A. Di, Webb, B.D., Chan, W.M., Boer, E. de, Garnai, S.J., Barry, B.J., Ray, T., Kosicki, M., Robson, C.D., Zhang, Zhongyang, Collins, T.E., Gelber, A., Pratt, B.M., Fujiwara, Y., Varshney, A., Lek, M., Warburton, P.E., Ryzin, C. Van, Lehky, T.J., Zalewski, C., King, K.A., Brewer, C.C., Thurm, A., Snow, J., Facio, F.M., Narisu, N., Bonnycastle, L.L., Swift, A., Chines, P.S., Bell, J.L., Mohan, S., Whitman, M.C., Staffieri, S.E., Elder, J.E., Demer, J.L., Torres, A., Rachid, E., Al-Haddad, C., Boustany, R.M., Mackey, D.A., Brady, A.F., Fenollar-Cortés, M., Fradin, M., Kleefstra, T., Padberg, G.W., Raskin, S., Sato, M.T., Orkin, S.H., Parker, S.C.J., Hadlock, T.A., Vissers, L.E.L.M., Bokhoven, H. van, Jabs, E.W., Collins, F.S., Pennacchio, L.A., Manoli, I., and Engle, E.C.
- Abstract
01 juli 2023, Item does not contain fulltext, Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized to result from facial branchial motor neuron (FBMN) maldevelopment. In the present study, we report that HCFP1 results from heterozygous duplications within a neuron-specific GATA2 regulatory region that includes two enhancers and one silencer, and from noncoding single-nucleotide variants (SNVs) within the silencer. Some SNVs impair binding of NR2F1 to the silencer in vitro and in vivo and attenuate in vivo enhancer reporter expression in FBMNs. Gata2 and its effector Gata3 are essential for inner-ear efferent neuron (IEE) but not FBMN development. A humanized HCFP1 mouse model extends Gata2 expression, favors the formation of IEEs over FBMNs and is rescued by conditional loss of Gata3. These findings highlight the importance of temporal gene regulation in development and of noncoding variation in rare mendelian disease.
- Published
- 2023
36. Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation
- Author
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Steyaert, W.A.R., Haer-Wigman, L., Pfundt, R.P., Hellebrekers, D., Steehouwer, M., Hampstead, J.E., Boer, E. de, Yntema, H.G., Kamsteeg, E.J., Brunner, H.G., Hoischen, A., Gilissen, C.F.H.A., Steyaert, W.A.R., Haer-Wigman, L., Pfundt, R.P., Hellebrekers, D., Steehouwer, M., Hampstead, J.E., Boer, E. de, Yntema, H.G., Kamsteeg, E.J., Brunner, H.G., Hoischen, A., and Gilissen, C.F.H.A.
- Abstract
Contains fulltext : 298929.pdf (Publisher’s version ) (Open Access)
- Published
- 2023
37. Veldgids invasieve houtige planten in Nederland
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Valkenburg, J.L.C.H. van, Boer, E., Duistermaat, H. (Leni), Al, E.J., Valkenburg, J.L.C.H. van, Boer, E., Duistermaat, H. (Leni), and Al, E.J.
- Abstract
In deze veldgids worden de 45 soorten uitheemse bomen en struiken beschreven die in bospercelen prioriteit hebben bij het voorkomen van schade. De gids bevat onder andere kenmerken, foto’s en bestrijdingsmaatregelen. Met deze gids kunt u de uitheemse bomen en struiken herkennen die schade aan de natuur in Nederland veroorzaken.
- Published
- 2023
38. Bestuurlijke boete Wet dieren : Effecten van de bestuurlijke boete Wet dieren in de praktijk
- Author
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Sloover, S., Vries, R. de, Boer, E. de, Berkhout, B., Sloover, S., Vries, R. de, Boer, E. de, and Berkhout, B.
- Abstract
Rapport over de effecten van de bestuurlijke boete Wet dieren in de praktijk.
- Published
- 2023
39. Boomwurger, hemelboom, vlinderstruik en nog veel meer
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Valkenburg, J. van, Boer, E., Duistermaat, L., Al, E., Valkenburg, J. van, Boer, E., Duistermaat, L., and Al, E.
- Abstract
Wat hebben boomwurger, hemelboom en vlinderstruik met elkaar gemeen? Het zijn alle drie houtige planten die niet van nature in onze bossen thuishoren en schadelijke effecten kunnen hebben. Het zijn dus invasieve exoten. Ze staan ook samen in de nieuwe Veldgids Invasieve houtige planten in Nederland, waarin in totaal 45 uitheemse bomen en struiken worden beschreven.
- Published
- 2023
40. Fire, climate and vegetation linkages in the Bolivian Chiquitano seasonally dry tropical forest
- Author
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Power, M. J., Whitney, B. S., Mayle, F. E., Neves, D. M., de Boer, E. J., and Maclean, K. S.
- Published
- 2016
41. 615. Genetic improvement program in black soldier fly for increased larval weight in industrial applications
- Author
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Facchini, E., primary, Shrestha, K., additional, van den Boer, E., additional, Junes, P., additional, Sader, G., additional, Peeters, K., additional, and Schmitt, E., additional
- Published
- 2022
- Full Text
- View/download PDF
42. Consequences of CT colonography in stenosing colorectal cancer
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Huisman, JF, Leicher, LW, de Boer, E, van Westreenen, HL, de Groot, JW, Holman, FA, van de Meeberg, PC, Sallevelt, PEJM, Peeters, KCMJ, Wasser, MNJM, Vasen, HFA, and de Vos tot Nederveen Cappel, WH
- Published
- 2017
- Full Text
- View/download PDF
43. Mining of the association rules between driver electrodermal activity and speed variation in different road intersections
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Distefano, N, Leonardi, S, Pulvirenti, G, Romano, R, Boer, E, and Wooldridge, E
- Subjects
Urban Studies ,General Engineering ,Transportation ,Safety Research - Abstract
It is commonly acknowledged that the human factor and the interaction between the human factor and the road environment are among the most common causes of road accidents. Physiological signals can provide a real-time assessment of the driver's state because they can be collected continuously without interfering with the driver's task performance or the drivers' perception of the road. This study presents a method for measuring and quantifying drivers' physiological responses when approaching T-junctions and roundabouts using electrodermal activity and speed variations. Speed and electrodermal activity were collected continuously during a driving study which took place on a test environment based at Cranfield University and surrounding roads. Twenty participants were involved in the study. The analysis focused on four crossing manoeuvres on two T-junctions and a roundabout. The association Rule with the Apriori algorithm was used in order to evaluate associations between the variables related to electrodermal activity, i.e. the number and amplitude of the SCR peaks (assessed by the Electrodermal Impact Index in aggregate form), and the variables related to speed, i.e. the speed variation and its sign (positive or negative), for each type of intersection. The main results of this study can be summarized as follows: 1) the rules obtained for the manoeuvres on the T-Junctions show that the T-junctions induce low variations in the electrodermal activity and are often associated with a significant speed increase (between 20% and 30%); 2) the rules obtained for the manoeuvres on the roundabout highlights that the roundabout induces high variations in the electrodermal activity and is associated with a significant speed reduction (between 20% and 40%).
- Published
- 2022
44. Biodistribution Study of Intravenously Injected Cetuximab-IRDye700DX in Cynomolgus Macaques
- Author
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de Boer, E., Samuel, S., French, D. N., Warram, J. M., Schoeb, T. R., Rosenthal, E. L., and Zinn, K. R.
- Published
- 2016
- Full Text
- View/download PDF
45. P1530: PERITRANFUSIONAL C1-INHIBITOR IN PATIENTS WITH SEVERE COMPLEMENT-MEDIATED AUTOIMMUNE HEMOLYTIC ANEMIA: AN OPEN LABEL PHASE 2 TRIAL.
- Author
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de Boer, E. C. W., primary, Jalink, M., additional, Delvasto-Nuñes, L., additional, Meulenbroek, E. M., additional, Baas, I., additional, Janssen, S. R., additional, Dijkman, E. E., additional, Gelderman, K. A., additional, Wouters, D., additional, Engel, M. D., additional, de Haas, M., additional, Kersten, M.-J., additional, Jongerius, I., additional, Zeerleder, S., additional, and Vos, J. M., additional
- Published
- 2022
- Full Text
- View/download PDF
46. School travel behaviour in the Netherlands and Flanders
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Goeverden, C.D. van and Boer, E. de
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- 2013
- Full Text
- View/download PDF
47. Optimization of Monitoring Networks for Estimation of the Semivariance Function
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Boer, E. P. J., Hendrix, E. M. T., Rasch, D. A. M. K., Müller, Werner A., editor, Bihn, Martina, editor, Atkinson, Anthony C., editor, Hackl, Peter, editor, and Müller, Werner G., editor
- Published
- 2001
- Full Text
- View/download PDF
48. Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
- Author
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Boer, E. de, Yaldiz, B., Denomme-Pichon, A.S., Matalonga, L., Laurie, S., Steyaert, Wouter, Gilissen, C.F.H.A., Kleefstra, T., Vissers, L.E.L.M., Zguro, K., Zurek, B., Boer, E. de, Yaldiz, B., Denomme-Pichon, A.S., Matalonga, L., Laurie, S., Steyaert, Wouter, Gilissen, C.F.H.A., Kleefstra, T., Vissers, L.E.L.M., Zguro, K., and Zurek, B.
- Abstract
Item does not contain fulltext
- Published
- 2022
49. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
- Author
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Boer, E. de, Ockeloen, C.W., Kampen, R.A., Hampstead, J.E., Dingemans, A.J.M., Rots, D., Pfundt, R.P., Reeuwijk, J. van, Gilissen, C.F.H.A., Vissers, L.E.L.M., Wong, M., Fisher, S.E., Kleefstra, T., Boer, E. de, Ockeloen, C.W., Kampen, R.A., Hampstead, J.E., Dingemans, A.J.M., Rots, D., Pfundt, R.P., Reeuwijk, J. van, Gilissen, C.F.H.A., Vissers, L.E.L.M., Wong, M., Fisher, S.E., and Kleefstra, T.
- Abstract
Contains fulltext : 284428.pdf (Publisher’s version ) (Open Access)
- Published
- 2022
50. Werken met begaafdheid in de klas: Pedagogische sensitiviteit als leidraad
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Bakx, A.W.E.A., Boer, E de, Houtert, T. van, Brand, M. van den, Bakx, A.W.E.A., Boer, E de, Houtert, T. van, and Brand, M. van den
- Abstract
Item does not contain fulltext
- Published
- 2022
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