Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism

Autor: Musova Z, Hancarova M, Havlovicova M, Pourova R, Hrdlicka M, Kraus J, Trkova M, Stejskal D, Sedlacek Z

Publikováno v: Neuropsychiatric Disease and Treatment, Vol Volume 12, Pp 2367-2372 (2016)

Zuzana Musova,1 Miroslava Hancarova,1 Marketa Havlovicova,1 Radka Pourova,1 Michal Hrdlicka,2 Josef Kraus,3 Marie Trkova,4 David Stejskal,4 Zdenek Sedlacek1 1Department of Biology and Medical Genetics, 2Department of Child Psychiatry, 3Department of

Externí odkaz: https://doaj.org/article/8bc55686b97a47fb858595d50b3e363c

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Autor: Wang T., Hoekzema K., Vecchio D., Wu H., Sulovari A., Coe B. P., Gillentine M. A., Wilfert A. B., Perez-Jurado L. A., Kvarnung M., Sleyp Y., Earl R. K., Rosenfeld J. A., Geisheker M. R., Han L., Du B., Barnett C., Thompson E., Shaw M., Carroll R., Friend K., Catford R., Palmer E. E., Zou X., Ou J., Li H., Guo H., Gerdts J., Avola E., Calabrese G., Elia M., Greco D., Lindstrand A., Nordgren A., Anderlid B. -M., Vandeweyer G., Van Dijck A., Van der Aa N., McKenna B., Hancarova M., Bendova S., Havlovicova M., Malerba G., Bernardina B. D., Muglia P., van Haeringen A., Hoffer M. J. V., Franke B., Cappuccio G., Delatycki M., Lockhart P. J., Manning M. A., Liu P., Scheffer I. E., Brunetti Pierri N., Rommelse N., Amaral D. G., Santen G. W. E., Trabetti E., Sedlacek Z., Michaelson J. J., Pierce K., Courchesne E., Kooy R. F., Acampado J., Ace A. J., Amatya A., Astrovskaya I., Bashar A., Brooks E., Butler M. E., Cartner L. A., Chin W., Chung W. K., Daniels A. M., Feliciano P., Fleisch C., Ganesan S., Jensen W., Lash A. E., Marini R., Myers V. J., O'Connor E., Rigby C., Robertson B. E., Shah N., Shah S., Singer E., Snyder L. A. G., Stephens A. N., Tjernagel J., Vernoia B. M., Volfovsky N., White L. C., Hsieh A., Shen Y., Zhou X., Turner T. N., Bahl E., Thomas T. R., Brueggeman L., Koomar T., Michael R. J., O'Roak B. J., Barnard R. A., Gibbs R. A., Muzny D., Sabo A., Ahmed K. L. B., Eichler E. E., Siegel M., Abbeduto L., Hilscher B. A., Li D., Smith K., Thompson S., Albright C., Butter E. M., Eldred S., Hanna N., Jones M., Coury D. L., Scherr J., Pifher T., Roby E., Dennis B., Higgins L., Brown M., Alessandri M., Gutierrez A., Hale M. N., Herbert L. M., Schneider H. L., David G., Annett R. D., Sarver D. E., Arriaga I., Camba A., Gulsrud A. C., Haley M., McCracken J. T., Sandhu S., Tafolla M., Yang W. S., Carpenter L. A., Bradley C. C., Gwynette F., Manning P., Shaffer R., Thomas C., Bernier R. A., Fox E. A., Gerdts J. A., Pepper M., Ho T., Cho D., Piven J., Lechniak H., Soorya L. V., Gordon R., Wainer A., Yeh L., Ochoa-Lubinoff C., Russo N., Berry-Kravis E., Booker S., Erickson C. A., Prock L. M., Pawlowski K. G., Matthews E. T., Brewster S. J., Hojlo M. A., Abada E., Lamarche E., Murali S. C., Harvey W. T., Kaplan H. E., Pierce K. L., DeMarco L., Horner S., Pandey J., Plate S., Sahin M., Riley K. D., Carmody E., Constantini J., Esler A., Fatemi A., Hutter H., Landa R. J., McKenzie A. P., Neely J., Singh V., Van Metre B., Wodka E. L., Fombonne E. J., Huang-Storms L. Y., Pacheco L. D., Mastel S. A., Coppola L. A., Francis S., Jarrett A., Jacob S., Lillie N., Gunderson J., Istephanous D., Simon L., Wasserberg O., Rachubinski A. L., Rosenberg C. R., Kanne S. M., Shocklee A. D., Takahashi N., Bridwell S. L., Klimczac R. L., Mahurin M. A., Cotrell H. E., Grant C. A., Hunter S. G., Martin C. L., Taylor C. M., Walsh L. K., Dent K. A., Mason A., Sziklay A., Smith C. J., Nordenskjold M., Romano C., Peeters H., Gecz J., Xia K.

Publikováno v: Nature communications, vol 11, iss 1
Nature Communications, 11
Nature communications
Nature Communications, 11, 1
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Nature Communications, 11(1). NATURE RESEARCH

Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd59829750fcbc0b802de5b3fb7bdab7
https://escholarship.org/uc/item/9mh106j1

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Morbidity risk of chromosomal breakpoints in topological domains enriched in non-exonic conserved elements

Autor: Bak, M., Fonseca, A., Mehrjouy, M., Rasmussen, M., Halgren, C., Bache, I., Kroisel, P., Midyan, S., Vermeesch, J., Vienna-Morgante, A., Abe, K., Moretti-Ferreira, D., Angelova, L., Rajcan-Separovic, E., Sismani, C., Aristidou, C., Sedlacek, Z., Fagerberg, C., Brondum-Nielsen, K., Vogel, I., Bojesen, A., Ounap, K., Roht, L., Lespinasse, J., Beneteau, C., Kalscheuer, V., Ehmke, N., Daumer-Haas, C., Stefanou, E., Czako, M., Sheth, F., Bonaglia, C., Novelli, A., Fannemel, M., Engelen, J., Travessa, A., Kokalj-Vokac, N., Ramos-Arroyo, M., Martinez, L. R., Guitart, M., Schinzel, A., Silan, F., de Almeida, C., Akkari, Y., Batanian, J., Kim, H., Jacky, P., Tommerup, N., Consortium, Int Breakpoint Mapping

Publikováno v: Bak, M, Fonseca, A, Mehrjouy, M, Rasmussen, M, Halgren, C, Bache, I, Kroisel, P, Midyan, S, Vermeesch, J, Vienna-Morgante, A, Abe, K, Moretti-Ferreira, D, Angelova, L, Rajcan-Separovic, E, Sismani, C, Aristidou, C, Sedlacek, Z, Fagerberg, C, Brondum-Nielsen, K, Vogel, I, Bojesen, A, Ounap, K, Roht, L, Lespinasse, J, Beneteau, C, Kalscheuer, V, Ehmke, N, Daumer-Haas, C, Stefanou, E, Czako, M, Sheth, F, Bonaglia, C, Novelli, A, Fannemel, M, Engelen, J, Travessa, A, Kokalj-Vokac, N, Ramos-Arroyo, M, Martinez, L R, Guitart, M, Schinzel, A, Silan, F, de Almeida, C, Akkari, Y, Batanian, J, Kim, H, Jacky, P, Tommerup, N & Consortium, I B M 2019, ' Morbidity risk of chromosomal breakpoints in topological domains enriched in non-exonic conserved elements ', European Journal of Human Genetics, vol. 26, pp. 59-60 . https://doi.org/10.1038/s41431-018-0249-5

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3062::075fd0f2c1e5697e2c033e24afc94e89
https://portal.findresearcher.sdu.dk/da/publications/e71d9f5a-8f73-405f-a9e4-7047bea99997

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