Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

Autor: Olde Keizer, Richelle A.C.M., Marouane, Abderrahim, Kerstjens-Frederikse, Wilhelmina S., Deden, A. Chantal, Lichtenbelt, Klaske D., Jonckers, Tinneke, Vervoorn, Marieke, Vreeburg, M., Henneman, Lidewij, de Vries, Linda S., Sinke, Richard J., Pfundt, Rolph, Stevens, Servi J.C., Andriessen, Peter, van Lingen, Richard A., Nelen, Marcel, Scheffer, Hans, Stemkens, Daphne, Oosterwijk, Cor, van Amstel, Hans Kristian Ploos, de Boode, W. P., van Zelst-Stams, W., Frederix, Geert W.J., Vissers, L. E.L.M., Henneman, L., van Haelst, M. M., Sistermans, E. A., Cornel, M. C., Misra-Isrie, M., Mannens, M. M.A.M., Waisfisz, Q., van Hagen, J. M., Brooks, A. S., Barakat, T. S., Hoefsloot, E. H., van Lingen, R. A., Ruivenkamp, C. A.L., Koene, S., Rutten, J. W., de Koning, B., Stevens, S. J.C., van den Wijngaard, A., Stegmann, A. P.A., Deden, A. C., Rodenburg, W., Sinke, R. J., van der Velde, K. J., de Vries, L. S., Frederix, G. W.J., Oegema, R.

Publikováno v: European Journal of Pediatrics. Springer-Verlag

The introduction of rapid exome sequencing (rES) for critically ill neonates admitted to the neonatal intensive care unit has made it possible to impact clinical decision-making. Unbiased prospective studies to quantify the impact of rES over routine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::afa0a389c2188bae2fdfdb912053777e
https://pure.eur.nl/en/publications/332deff0-c7c2-4a97-938a-ef7ebdefafe3

Effects of eight neuropsychiatric copy number variants on human brain structure

Autor: Modenato, C., Kumar, K., Moreau, C., Martin-Brevet, S., Huguet, G., Schramm, C., Jean-Louis, M., Martin, C. -O., Younis, N., Tamer, P., Douard, E., Thebault-Dagher, F., Cote, V., Charlebois, A. -R., Deguire, F., Maillard, A. M., Rodriguez-Herreros, B., Pain, A., Richetin, S., Addor, M. -C., Andrieux, J., Arveiler, B., Baujat, G., Sloan-Bena, F., Belfiore, M., Bonneau, D., Bouquillon, S., Boute, O., Brusco, A., Busa, T., Caberg, J. -H., Campion, D., Colombert, V., Cordier, M. -P., David, A., Debray, F. -G., Delrue, M. -A., Doco-Fenzy, M., Dunkhase-Heinl, U., Edery, P., Fagerberg, C., Faivre, L., Forzano, F., Genevieve, D., Gerard, M., Giachino, D., Guichet, A., Guillin, O., Heron, D., Isidor, B., Jacquette, A., Jaillard, S., Journel, H., Keren, B., Lacombe, D., Lebon, S., Le Caignec, C., Lemaitre, M. -P., Lespinasse, J., Mathieu-Dramart, M., Mercier, S., Mignot, C., Missirian, C., Petit, F., Pilekaer Sorensen, K., Pinson, L., Plessis, G., Prieur, F., Raymond, A., Rooryck-Thambo, C., Rossi, M., Sanlaville, D., Schlott Kristiansen, B., Schluth-Bolard, C., Till, M., Van Haelst, M., Van Maldergem, L., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, J. E., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., Laguerre, K., Levy, S., Cavanagh, A. L., Llorens, A. V., Campe, K. L., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M. N., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith-Packard, B., Gallagher, A. S., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Melie-Garcia, L., Kushan, L., Silva, A. I., van den Bree, M. B. M., Linden, D. E. J., Owen, M. J., Hall, J., Lippe, S., Chakravarty, M., Bzdok, D., Bearden, C. E., Draganski, B., Jacquemont, S.

Publikováno v: Translational Psychiatry, 11(1):399. Nature Publishing Group
Translational Psychiatry
Translational psychiatry, vol 11, iss 1
16p11.2 European Consortium & Simons Searchlight Consortium 2021, ' Effects of eight neuropsychiatric copy number variants on human brain structure ', Translational Psychiatry, vol. 11, no. 1, 399 . https://doi.org/10.1038/s41398-021-01490-9
Translational psychiatry, vol. 11, no. 1, pp. 399
Translational Psychiatry, Vol 11, Iss 1, Pp 1-10 (2021)
Modenato, C, Kumar, K, Moreau, C, Martin-Brevet, S, Huguet, G, Schramm, C, Jean-Louis, M, Martin, C O, Younis, N, Tamer, P, Douard, E, Thébault-Dagher, F, Côté, V, Charlebois, A R, Deguire, F, Maillard, A M, Rodriguez-Herreros, B, Pain, A, Richetin, S, 16p11.2 European Consortium, Simons Searchlight Consortium, Melie-Garcia, L, Kushan, L, Silva, A I, van den Bree, M B M, Linden, D E J, Owen, M J, Hall, J, Lippé, S, Chakravarty, M, Bzdok, D, Bearden, C E, Draganski, B, Jacquemont, S, Dunkhase-Heinl, U, Fagerberg, C, Pilekær Sørensen, K & Schlott Kristiansen, B 2021, ' Effects of eight neuropsychiatric copy number variants on human brain structure ', Translational Psychiatry, vol. 11, no. 1, 399 . https://doi.org/10.1038/s41398-021-01490-9

Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, sh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::393cb7299298f19ec6a2c37380103bc7
https://doi.org/10.1038/s41398-021-01490-9

Dextro-Amphetamine Treatment for Hypothalamic Obesity in Children Surviving Brain Tumors or Other Causes

Autor: Van Schaik, J., Welling, M., De Groot, C., Abawi, O., Burghard, M., Kleinendorst, L., Van der Voorn, B., Van Haelst, M., Ophuis, B. Oude, Bakker, B., Tissing, W., Kamp, G., Rotteveel, J., Schouten-Van Meeteren, A., Van de Akker, E., Van Santen, H.

Publikováno v: Pediatric Blood and Cancer, 68, S292-S293. Wiley-Liss Inc.
Van Schaik, J, Welling, M, De Groot, C, Abawi, O, Burghard, M, Kleinendorst, L, Van der Voorn, B, Van Haelst, M, Ophuis, B O, Bakker, B, Tissing, W, Kamp, G, Rotteveel, J, Schouten-Van Meeteren, A, Van de Akker, E & Van Santen, H 2021, ' Dextro-Amphetamine Treatment for Hypothalamic Obesity in Children Surviving Brain Tumors or Other Causes ', Pediatric Blood and Cancer, vol. 68, pp. S292-S293 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7a123a5378fd72d664bdc604fbdfeb79
https://research.vumc.nl/en/publications/78e47c67-6c2a-4c27-97ea-0ad106d76209

Towards the treatment of Cantu syndrome

Autor: Haaften, G., Nichols, C. G., Grange, D. K., Haelst, M. M., Smithson, S. F., Scurr, I., Kirk, E. P., Remedi, M. S., Kovacs, A., Jeroen Bakkers, Tessadori, F., Savelberg, S., Harter, T., Halabi, C. M., Huang, Y., Mcclenaghan, C., Roessler, H. I.

Publikováno v: Roessler, H I, McClenaghan, C, Huang, Y, Halabi, C M, Harter, T, Savelberg, S, Tessadori, F, Bakkers, J, Kovacs, A, Remedi, M S, Kirk, E P, Scurr, I, Smithson, S F, van Haelst, M M, Grange, D K, Nichols, C G & van Haaften, G 2019, ' Towards the treatment of Cantu syndrome ', European Journal of Human Genetics, vol. 27, pp. 1091-1092 .
Publons
European Journal of Human Genetics, 27, 1091-1092. Nature Publishing Group

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c0fbd81e0f4ee02215ed8450f5389ce2
https://research.vumc.nl/en/publications/caaecfec-96c2-4db7-92b8-c4d642368c81

Efficient CrispR/Cas9-based nucleotide editing to model cardiovascular anomalies of Cantu syndrome in zebrafish

Autor: Haaften, G., Haelst, M. M., Jeroen Bakkers, Savelberg, S. M., Tessadori, F., Roessler, H. I.

Publikováno v: Roessler, H I, Tessadori, F, Savelberg, S M, Bakkers, J, van Haelst, M M & van Haaften, G 2019, ' Efficient CrispR/Cas9-based nucleotide editing to model cardiovascular anomalies of Cantu syndrome in zebrafish ', European Journal of Human Genetics, vol. 27, pp. 347-348 .
Publons
European Journal of Human Genetics, 27, 347-348. Nature Publishing Group

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2c9eeefb3ec4e8f013e1aa59e2a23d08
https://research.vumc.nl/en/publications/173bd71d-04d7-46e3-a01e-713924714fbb