Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Autor: Monroe, G.R., Frederix, G.W.J., Savelberg, S.M., de Vries, T.I., Duran, K.J., van der Smagt, J.J., Terhal, P.A., van Hasselt, P.M., Kroes, H.Y., Verhoeven - Duif, N.M., Nijman, I.J., Carbo, E.C., van Gassen, K.L.I., Knoers, N.V., Hövels, A.M., van Haelst, M.M., Visser, G., Van Haaften, G., Sub Pharmacotherapy, Theoretical, Pharmacoepidemiology and Clinical Pharmacology

Publikováno v: Genetics in Medicine, 18(9), 949-56. Lippincott Williams and Wilkins
Genetics in Medicine, 18(9), 949. Lippincott Williams and Wilkins
Genetics in medicine, 18(9), 949-956. Lippincott Williams and Wilkins
Genetics in Medicine, 18(9), 949-956. Nature Publishing Group
Monroe, G R, Frederix, G W, Savelberg, S M C, de Vries, T I, Duran, K J, van der Smagt, J J, Terhal, P A, van Hasselt, P M, Kroes, H Y, Verhoeven-Duif, N M, Nijman, I J, Carbo, E C, van Gassen, K L, Knoers, N V, Hövels, A M, van Haelst, M M, Visser, G & van Haaften, G 2016, ' Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability ', Genetics in Medicine, vol. 18, no. 9, pp. 949-56 . https://doi.org/10.1038/gim.2015.200

PURPOSE: This study investigated whole-exome sequencing (WES) yield in a subset of intellectually disabled patients referred to our clinical diagnostic center and calculated the total costs of these patients' diagnostic trajectory in order to evaluat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee586aa7bc73690423d5367e434cd47e
https://doi.org/10.1038/gim.2015.200

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Autor: Schmidts, M., Arts, H.H., Bongers, E.M., Yap, Z., Oud, M.M., Antony, D., Duijkers, L., Emes, R.D., Stalker, J., Yntema, J.B., Plagnol, V., Hoischen, A., Gilissen, C., Forsythe, E., Lausch, E., Veltman, J.A., Roeleveld, N., Superti-Furga, A., Kutkowska-Kazmierczak, A., Kamsteeg, E.J., Elçioglu, N., van Maarle, M.C., Graul-Neumann, L.M., Devriendt, K., Smithson, S.F., Wellesley, D., Verbeek, N.E., Hennekam, R.C., Kayserili, H., Scambler, P.J., Beales, P.L., UK10K, Knoers, N.V., Roepman, R., Mitchison, H.M.

Publikováno v: Journal of medical genetics, 50(5), 309-323. BMJ Publishing Group
Journal of Medical Genetics; Vol 50
Journal of Medical Genetics
Journal of Medical Genetics, 50, 309-223
JOURNAL OF MEDICAL GENETICS, 50(5), 309-323. BMJ PUBLISHING GROUP
Journal of Medical Genetics, vol. 50, no. 5, pp. 309-323
Journal of Medical Genetics, 50, 5, pp. 309-223

Contains fulltext : 116495.pdf (Publisher’s version ) (Open Access) BACKGROUND: Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e56f4ecae0d50d08988921f47f5a41b9
https://hdl.handle.net/11424/245562

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