Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Autor: Lal, D., May, P., Perez-Palma, E., Samocha, K. E., Kosmicki, J. A., Robinson, E. B., Moller, R. S., Krause, R., Nurnberg, P., Weckhuysen, S., De Jonghe, P., Guerrini, R., Niestroj, L. M., Du, J., Marini, C., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D. C., Depienne, C., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jahn, J., Klein, K. M., Koeleman, B. P. C., Komarek, V., Leguern, E., Lehesjoki, A. -E., Lemke, J. R., Lerche, H., Linnankivi, T., Muhle, H., Pal, D. K., Palotie, A., Rosenow, F., Schubert-Bast, S., Selmer, K., Serratosa, J. M., Stephani, U., Sterbova, K., Striano, P., Suls, A., Talvik, T., Von Spiczak, S., Weber, Y. G., Zara, F., Ware, J. S., Kurki, M., Gormley, P., Tang, S., Wu, S., Biskup, S., Poduri, A., Neubauer, B. A., Helbig, K. L., Majithia, A. R., Daly, M. J.

Publikováno v: Genome medicine
Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2020)
Genome Medicine
Lal, D, May, P, Perez-Palma, E, Samocha, K E, Kosmicki, J A, Robinson, E B, Møller, R S, Krause, R, Nürnberg, P, Weckhuysen, S, De Jonghe, P, Guerrini, R, Niestroj, L M, Du, J, Marini, C, Ware, J S, Kurki, M, Gormley, P, Tang, S, Wu, S, Biskup, S, Poduri, A, Neubauer, B A, Koeleman, B P C, Helbig, K L, Weber, Y G, Helbig, I, Majithia, A R, Palotie, A, Daly, M J & EuroEPINOMICS RES Consortium 2020, ' Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders ', Genome Medicine, vol. 12, 28 . https://doi.org/10.1186/s13073-020-00725-6

Background Classifying pathogenicity of missense variants represents a major challenge in clinical practice during the diagnoses of rare and genetic heterogeneous neurodevelopmental disorders (NDDs). While orthologous gene conservation is commonly em

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b036557331bdae2c9f0cad2faa39ec2d
https://hdl.handle.net/10067/1686320151162165141

Fine mapping of QTL for prepulse inhibition in LG/J and SM/J mice using F2 and advanced intercross lines.

Autor: Samocha, K. E.¹, Lim, J. E.², Cheng, R.¹, Sokoloff, G.¹, Palmer, A. A.^1,3

Publikováno v: Genes, Brain & Behavior. Oct2010, Vol. 9 Issue 7, p759-767. 9p. 3 Charts, 5 Graphs.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy (vol 47, pg 39, 2015)

Autor: Muona, M., Berkovic, S. F., Dibbens, L. M., Karen Oliver, Maljevic, S., Bayly, M. A., Joensuu, T., Canafoglia, L., Franceschetti, S., Michelucci, R., Markkinen, S., Heron, S. E., Hildebrand, M. S., Andermann, E., Andermann, F., Gambardella, A., Tinuper, P., Licchetta, L., Scheffer, I. E., Criscuolo, C., Filla, A., Ferlazzo, E., Ahmad, J., Ahmad, A., Baykan, B., Said, E., Topcu, M., Riguzzi, P., King, M. D., Ozkara, C., Andrade, D. M., Engelsen, B. A., Crespel, A., Lindenau, M., Lohmann, E., Saletti, V., Massano, J., Privitera, M., Espay, A. J., Kauffmann, B., Duchowny, M., Moller, R. S., Straussberg, R., Afawi, Z., Ben-Zeev, B., Samocha, K. E., Daly, M. J., Petrou, S., Lerche, H., Palotie, A., Lehesjoki, A. E.

Publikováno v: Web of Science
ResearcherID

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2baad9991da549ca7689c77e99bfa6c5
https://publons.com/wos-op/publon/6932081/

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