LSST camera verification testing and characterization

Autor: Bryant, Julia J., Motohara, Kentaro, Vernet, Joël R. D., Roodman, A., Rasmussen, A., Bradshaw, A., Charles, E., Chiang, J., Digel, S. W., Dubois, R., Johnson, A. S., Kahn, S., Liang, S., Marshall, S., Neal, H., Plazas, A. A., Reil, K., Rykoff, E., Schindler, R., Schutt, T., Utsumi, Y., Bogart, T., Bond, T., Bowdish, B., Cisneros, S., Eisner, A., Freytag, M., Hascall, D., Lange, T., Lazarte, J. C., Lopez, M., Mendez, C., Newbry, S., Nordby, M., Onoprienko, D., Osier, S., Pollek, H., Qiu, B., Saxton, O., Tether, S., Thayer, G., Turri, M., Banovetz, J., O'Connor, P., Riot, V., Wolfe, J., Lage, C., Polin, D., Snyder, A., Tyson, A., Nichols, R., Ritz, S., Shestakov, A., Wood, D., Broughton, A., Park, H., Esteves, J., Barrau, A., Bregeon, J., Combet, C., Dargaud, G., Lagorio, E., Migliore, M., Vezzu, F., Antilogus, P., Astier, P., Daubard, G., Juramy, C., Laporte, D., Guillemin, T., Aubourg, E., Boucaud, A., Parisel, C., Virieux, F., Breugnon, P., Karst, P., Marini, A., Fisher-Levine, M., Waters, C.

Publikováno v: Proceedings of SPIE; July 2024, Vol. 13096 Issue: 1 p130961S-130961S-16, 12965156p

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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Autor: Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škoric-Milosavljevic D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P, Robyns T, Giachino DF, Ackerman MJ, Brugada R, Brugada-Terradellas J, Gimeno JR, Hasdemir C, Guicheney P, Priori SG, Schulze-Bahr E, Makita N, Schwartz PJ, Shimizu W, Aiba T, Schott JJ, Redon R, Ohno S, Probst V, Behr ER, Barc J, Bezzina CR, Nantes Referral Center for inherited cardiac arrhythmia

Publikováno v: GENETICS IN MEDICINE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

PURPOSE: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e87c9928a8521edcd91c04ed927a7b68
https://openaccess.sgul.ac.uk/id/eprint/112371/3/s41436-020-00946-5.pdf

GENETIC TESTING IN MONOGENIC EARLY-ONSET ATRIAL FIBRILLATION

Autor: Chalazan, B., Freeth, E., Mohajeri, A., Ramanathan, K., Bennett, M., Walia, J., Halperin, L., Roston, T., Lazarte, J., Hegele, R., Lehman, A., Laksman, Z.

Publikováno v: In Canadian Journal of Diabetes November 2023 47(7) Supplement:S26-S27