Eric W Klee, PhD

  • Source: Scopus
  • Calculated based on no. of publications stored in Pure and citations from Scopus
20012021

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  • A form of muscular dystrophy associated with pathogenic variants in JAG2

    Coppens, S., Barnard, A. M., Puusepp, S., Pajusalu, S., Õunap, K., Vargas-Franco, D., Bruels, C. C., Donkervoort, S., Pais, L., Chao, K. R., Goodrich, J. K., England, E. M., Weisburd, B., Ganesh, V. S., Gudmundsson, S., O'Donnell-Luria, A., Nigul, M., Ilves, P., Mohassel, P., Siddique, T. & 38 others, Milone, M., Nicolau, S., Maroofian, R., Houlden, H., Hanna, M. G., Quinlivan, R., Beiraghi Toosi, M., Ghayoor Karimiani, E., Costagliola, S., Deconinck, N., Kadhim, H., Macke, E., Lanpher, B. C., Klee, E. W., Łusakowska, A., Kostera-Pruszczyk, A., Hahn, A., Schrank, B., Nishino, I., Ogasawara, M., El Sherif, R., Stojkovic, T., Nelson, I., Bonne, G., Cohen, E., Boland-Augé, A., Deleuze, J. F., Meng, Y., Töpf, A., Vilain, C., Pacak, C. A., Rivera-Zengotita, M. L., Bönnemann, C. G., Straub, V., Handford, P. A., Draper, I., Walter, G. A. & Kang, P. B., May 6 2021, In: American journal of human genetics. 108, 5, p. 840-856 17 p.

    Research output: Contribution to journalArticlepeer-review

  • A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype

    Schultz-Rogers, L., Lach, F. P., Rickman, K. A., Ferrer, A., Mangaonkar, A. A., Schwab, T. L., Schmitz, C. T., Clark, K. J., Dsouza, N. R., Zimmermann, M. T., Litzow, M., Jacobi, N., Klee, E. W., Smogorzewska, A. & Patnaik, M. M., Apr 2021, In: Haematologica. 106, 4, p. 1188-1192 5 p.

    Research output: Contribution to journalLetterpeer-review

    Open Access
  • Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

    Brunet, T., McWalter, K., Mayerhanser, K., Anbouba, G. M., Armstrong-Javors, A., Bader, I., Baugh, E., Begtrup, A., Bupp, C. P., Callewaert, B. L., Cereda, A., Cousin, M. A., Jimenez, J. C. D. R., Demmer, L., Dsouza, N. R., Fleischer, N., Gavrilova, R. H., Ghate, S., Graf, E., Green, A. & 41 others, Green, S. R., Iascone, M., Kdissa, A., Klee, D., Klee, E. W., Lancaster, E., Lindstrom, K., Mayr, J. A., McEntagart, M., Meeks, N. J. L., Mittag, D., Moore, H., Olsen, A. K., Ortiz, D., Parsons, G., Pena, L. D. M., Person, R. E., Punj, S., Ramos-Rivera, G. A., Sacoto, M. J. G., Bradley Schaefer, G., Schnur, R. E., Scott, T. M., Scott, D. A., Serbinski, C. R., Shashi, V., Siu, V. M., Stadheim, B. F., Sullivan, J. A., Švantnerová, J., Velsher, L., Wargowski, D. S., Wentzensen, I. M., Wieczorek, D., Winkelmann, J., Yap, P., Zech, M., Zimmermann, M. T., Meitinger, T., Distelmaier, F. & Wagner, M., Feb 2021, In: Genetics in Medicine. 23, 2, p. 384-395 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Epigenetic alteration contributes to the transcriptional reprogramming in T-cell prolymphocytic leukemia

    Tian, S., Zhang, H., Zhang, P., Kalmbach, M., Lee, J. H., Ordog, T., Hampel, P. J., Call, T. G., Witzig, T. E., Kay, N. E., Klee, E. W., Slager, S. L., Yan, H. & Ding, W., Dec 2021, In: Scientific reports. 11, 1, 8318.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

    Stamberger, H., Hammer, T. B., Gardella, E., Vlaskamp, D. R. M., Bertelsen, B., Mandelstam, S., de Lange, I., Zhang, J., Myers, C. T., Fenger, C., Afawi, Z., Almanza Fuerte, E. P., Andrade, D. M., Balcik, Y., Ben Zeev, B., Bennett, M. F., Berkovic, S. F., Isidor, B., Bouman, A., Brilstra, E. & 65 others, Busk, Ø. L., Cairns, A., Caumes, R., Chatron, N., Dale, R. C., de Geus, C., Edery, P., Gill, D., Granild-Jensen, J. B., Gunderson, L., Gunning, B., Heimer, G., Helle, J. R., Hildebrand, M. S., Hollingsworth, G., Kharytonov, V., Klee, E. W., Koeleman, B. P. C., Koolen, D. A., Korff, C., Küry, S., Lesca, G., Lev, D., Leventer, R. J., Mackay, M. T., Macke, E. L., McEntagart, M., Mohammad, S. S., Monin, P., Montomoli, M., Morava, E., Moutton, S., Muir, A. M., Parrini, E., Procopis, P., Ranza, E., Reed, L., Reif, P. S., Rosenow, F., Rossi, M., Sadleir, L. G., Sadoway, T., Schelhaas, H. J., Schneider, A. L., Shah, K., Shalev, R., Sisodiya, S. M., Smol, T., Stumpel, C. T. R. M., Stuurman, K., Symonds, J. D., Mau-Them, F. T., Verbeek, N., Verhoeven, J. S., Wallace, G., Yosovich, K., Zarate, Y. A., Zerem, A., Zuberi, S. M., Guerrini, R., Mefford, H. C., Patel, C., Zhang, Y. H., Møller, R. S. & Scheffer, I. E., Feb 2021, In: Genetics in Medicine. 23, 2, p. 363-373 11 p.

    Research output: Contribution to journalArticlepeer-review

    1 Scopus citations
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