Effects of informed consent for individual genome sequencing on relevant knowledge von Kaphingst, KA, Facio, FM, Cheng, M-R, Brooks, S, Eidem, H, Linn, A, Biesecker, BB, Biesecker, LG

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Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children von Sapp, J.C., Dong, D., Stark, C., Ivey, L.E., Hooker, G., Biesecker, L.G., Biesecker, B.B.

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Defining personal utility in genomics: A Delphi study von Kohler, J.N., Turbitt, E., Lewis, K.L., Wilfond, B.S., Jamal, L., Peay, H.L., Biesecker, L.G., Biesecker, B.B.

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PUGS: A novel scale to assess perceptions of uncertainties in genome sequencing von Biesecker, B.B., Woolford, S.W., Klein, W.M.P., Brothers, K.B., Umstead, K.L., Lewis, K.L., Biesecker, L.G., Han, P.K.J.

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What you can learn from one gene: GLI3 von Biesecker, L G

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Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets von Cross, J.L., Iben, J., Simpson, C.L., Thurm, A., Swedo, S., Tierney, E., Bailey-Wilson, J.E., Biesecker, L.G., Porter, F.D., Wassif, C.A.

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Guidelines for investigating causality of sequence variants in human disease von MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., Barrett, J. C., Biesecker, L. G., Conrad, D. F., Cooper, G. M., Cox, N. J., Daly, M. J., Gerstein, M. B., Goldstein, D. B., Hirschhorn, J. N., Leal, S. M., Pennacchio, L. A., Stamatoyannopoulos, J. A., Sunyaev, S. R., Valle, D., Voight, B. F., Winckler, W., Gunter, C.

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More than just a big thumb von Tziotzios, C., Walters, M., Biesecker, L.G.

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Disclosure of cardiac variants of uncertain significance results in an exome cohort von Lawal, T.A., Lewis, K.L., Johnston, J.J., Heidlebaugh, A.R., Ng, D., Gaston‐Johansson, F.G., Klein, W.M.P., Biesecker, B.B., Biesecker, L.G.

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GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome von Kang, Seongman, Graham, John M, Olney, Ann Haskins, Biesecker, Leslie G

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Cognitive deficits in children with gelastic seizures and hypothalamic hamartoma von FRATTALI, C. M, LIOW, K, CRAIG, G. H, KORENMAN, L. M, MAKHLOUF, F, SATO, S, BIESECKER, L. G, THEODORE, W. H

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Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome von Biesecker, Leslie G, Stone, Deborah L, Slavotinek, Anne, Bouffard, Gerard G, Banerjee-Basu, Sharmila, Baxevanis, Andreas D, Barr, Mason

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Myocardial fat overgrowth in Proteus syndrome von Hannoush, H., Sachdev, V., Brofferio, A., Arai, A.E., LaRocca, G., Sapp, J., Sidenko, S., Brenneman, C., Biesecker, L.G., Keppler-Noreuil, K.M.

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The Multifaceted Challenges of Proteus Syndrome von Biesecker, Leslie G

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Unfolding the role of chaperones and chaperonins in human disease von Slavotinek, Anne M, Biesecker, Leslie G

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Mapping phenotypes to language: a proposal to organize and standardize the clinical descriptions of malformations von Biesecker, LG

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Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients von SLAVOTINEK, A. M, SEARBY, C, NERI, G, ZACKAI, E, BIESECKER, L. G, AL-GAZALI, L, HENNEKAM, R. C. M, SCHRANDER-STUMPEL, C, ORCANA-LOSA, M, PARDO-REOYO, S, CANTANI, A, KUMAR, D, CAPELLINI, Q

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Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project von Biesecker, Leslie G.

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Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR von Black, Graeme C M, Ng, David, Thakker, Nalin, Corcoran, Connie M, Donnai, Dian, Perveen, Rahat, Schneider, Adele, Hadley, Donald W, Tifft, Cynthia, Zhang, Liqun, Wilkie, Andrew O M, van der Smagt, Jasper J, Gorlin, Robert J, Burgess, Shawn M, Bardwell, Vivian J, Biesecker, Leslie G

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Hyperphagia among patients with Bardet-Biedl syndrome von Sherafat-Kazemzadeh, R., Ivey, L., Kahn, S. R., Sapp, J. C., Hicks, M. D., Kim, R. C., Krause, A. J., Shomaker, L. B., Biesecker, L. G., Han, J. C., Yanovski, J. A.

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