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Christine C Bruels

20172023

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  • Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

    Morales-Rosado, J. A., Schwab, T. L., Macklin-Mantia, S. K., Foley, A. R., Pinto e Vairo, F., Pehlivan, D., Donkervoort, S., Rosenfeld, J. A., Boyum, G. E., Hu, Y., Cong, A. T. Q., Lotze, T. E., Mohila, C. A., Saade, D., Bharucha-Goebel, D., Chao, K. R., Grunseich, C., Bruels, C. C., Littel, H. R., Estrella, E. A., & 10 othersPais, L., Kang, P. B., Zimmermann, M. T., Lupski, J. R., Lee, B., Schellenberg, M. J., Clark, K. J., Wierenga, K. J., Bönnemann, C. G. & Klee, E. W., Jun 1 2023, In: American Journal of Human Genetics. 110, 6, p. 989-997 9 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    2 Scopus citations

  • The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

    Stafki, S. A., Turner, J., Littel, H. R., Bruels, C. C., Truong, D., Knirsch, U., Stettner, G. M., Graf, U., Berger, W., Kinali, M., Jungbluth, H., Pacak, C. A., Hughes, J., Mirchi, A., Derksen, A., Vincent-Delorme, C., Theil, A. F., Bernard, G., Ellis, D., Fassihi, H., & 4 othersLehmann, A. R., Laugel, V., Mohammed, S. & Kang, P. B., Apr 2023, In: Pediatric Neurology. 141, p. 79-86 8 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    1 Scopus citations

  • Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

    Nascimento, A., Bruels, C. C., Donkervoort, S., Foley, A. R., Codina, A., Milisenda, J. C., Estrella, E. A., Li, C., Pijuan, J., Draper, I., Hu, Y., Stafki, S. A., Pais, L. S., Ganesh, V. S., O’Donnell-Luria, A., Syeda, S. B., Carrera-García, L., Expósito-Escudero, J., Yubero, D., Martorell, L., & 14 othersPinal-Fernandez, I., Lidov, H. G. W., Mammen, A. L., Grau-Junyent, J. M., Ortez, C., Palau, F., Ghosh, P. S., Darras, B. T., Jou, C., Kunkel, L. M., Hoenicka, J., Bönnemann, C. G., Kang, P. B. & Natera-de Benito, D., Apr 2023, In: Acta Neuropathologica. 145, 4, p. 479-496 18 p.

    Research output: Contribution to journal › Article › peer-review

  • Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy

    Bruels, C. C., Littel, H. R., Daugherty, A. L., Stafki, S., Estrella, E. A., McGaughy, E. S., Truong, D., Badalamenti, J. P., Pais, L., Ganesh, V. S., O'Donnell-Luria, A., Stalker, H. J., Wang, Y., Collins, C., Behlmann, A., Lemmers, R. J. L. F., van der Maarel, S. M., Laine, R., Ghosh, P. S., Darras, B. T., & 4 othersZingariello, C. D., Pacak, C. A., Kunkel, L. M. & Kang, P. B., Aug 2022, In: Annals of Clinical and Translational Neurology. 9, 8, p. 1302-1309 8 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    9 Scopus citations

  • 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 othersMilone, 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 journal › Article › peer-review

    Open Access
    10 Scopus citations
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