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PreviewIssue DateTitleAuthor(s)
2021Association of SLC32A1 missense variants with genetic epilepsy with febrile seizures plusHeron, S.E.; Regan, B.M.; Harris, R.V.; Gardner, A.E.; Coleman, M.J.; Bennett, M.F.; Grinton, B.E.; Helbig, K.L.; Sperling, M.R.; Haut, S.; Geller, E.B.; Widdess-Walsh, P.; Pelekanos, J.T.; Bahlo, M.; Petrovski, S.; Heinzen, E.L.; Hildebrand, M.S.; Corbett, M.A.; Scheffer, I.E.; Gecz, J.; et al.
2021Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancerSinghal, D.; Hahn, C.N.; Feurstein, S.; Wee, L.Y.A.; Moma, L.; Kutyna, M.M.; Chhetri, R.; Eshraghi, L.; Schreiber, A.W.; Feng, J.; Wang, P.P.-S.; Babic, M.; Parker, W.T.; Gao, S.; Moore, S.; Das, S.; Thomas, D.; Pattnaik, S.; Brown, A.L.; D'Andrea, R.J.; et al.
2021Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsWhalen, S.; Shaw, M.; Mignot, C.; Héron, D.; Bastaraud, S.C.; Walti, C.C.; Liebelt, J.; Elmslie, F.; Yap, P.; Hurst, J.; Forsythe, E.; Kirmse, B.; Ozmore, J.; Spinelli, A.M.; Calabrese, O.; de Villemeur, T.B.; Tabet, A.C.; Levy, J.; Guet, A.; Kossorotoff, M.; et al.
2021A multi-country test of brief reappraisal interventions on emotions during the COVID-19 pandemicWang, K.; Goldenberg, A.; Dorison, C.A.; Miller, J.K.; Uusberg, A.; Lerner, J.S.; Gross, J.J.; Agesin, B.B.; Bernardo, M.; Campos, O.; Eudave, L.; Grzech, K.; Ozery, D.H.; Jackson, E.A.; Garcia, E.O.L.; Drexler, S.M.; Jurković, A.P.; Rana, K.; Wilson, J.P.; Antoniadi, M.; et al.
2021Diagnostic yield of whole genome sequencing after non-diagnostic exome sequencing or gene panel in developmental and epileptic encephalopathiesPalmer, E.E.; Sachdev, R.; Macintosh, R.; Genetic Counselling, G.D.; Melo, U.S.; Mundlos, S.; Righetti, S.; Kandula, T.; Minoche, A.E.; Puttick, C.; Gayevskiy, V.; Hesson, L.; Idrisoglu, S.; Shoubridge, C.; Thai, M.H.N.; Davis, R.L.; Drew, A.P.; Sampaio, H.; Andrews, P.I.; Lawson, J.; et al.

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