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20152023

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  • 2023

    Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients

    Adutwum, M., Hurst, A., Mirzaa, G., Kushner, J. D., Rogers, C., Khalek, N., Cristancho, A. G., Burrill, N., Seifert, M. E., Scarano, M. I., Schnur, R. E. & Slavotinek, A., Jan 2023, In: Clinical Genetics. 103, 1, p. 97-102 6 p.

    Research output: Contribution to journalArticlepeer-review

    3 Scopus citations
  • 2022

    Consolidation of the clinical and genetic definition of a SOX4- related neurodevelopmental syndrome

    Angelozzi, M., Karvande, A., Molin, A. N., Ritter, A. L., Leonard, J. M. M., Savatt, J. M., Douglass, K., Myers, S. M., Grippa, M., Tolchin, D., Zackai, E., Donoghue, S., Hurst, A. C. E., Descartes, M., Smith, K., Velasco, D., Schmanski, A., Crunk, A., Tokita, M. J., De Lange, I. M., & 28 othersVan Gassen, K., Robinson, H., Guegan, K., Suri, M., Patel, C., Bournez, M., Faivre, L., Tran-Mau-Them, F., Baker, J., Fabie, N., Weaver, K., Shillington, A., Hopkin, R. J., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Bökenkamp, R., Vergano, S., Seco Moro, M. N., Díaz De Bustamante, A., Misra, V. K., Kennelly, K., Rogers, C., Friedman, J., Wigby, K. M., Lenberg, J., Graziano, C., Ahrens-Nicklas, R. C. & Lefebvre, V., Mar 1 2022, In: Journal of medical genetics. 59, 11, p. 1058-1068 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    8 Scopus citations
  • 2021

    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

    Sheppard, S. E., Campbell, I. M., Harr, M. H., Gold, N., Li, D., Bjornsson, H. T., Cohen, J. S., Fahrner, J. A., Fatemi, A., Harris, J. R., Nowak, C., Stevens, C. A., Grand, K., Au, M., Graham, J. M., Sanchez-Lara, P. A., Campo, M. D., Jones, M. C., Abdul-Rahman, O., Alkuraya, F. S., & 83 othersBassetti, J. A., Bergstrom, K., Bhoj, E., Dugan, S., Kaplan, J. D., Derar, N., Gripp, K. W., Hauser, N., Innes, A. M., Keena, B., Kodra, N., Miller, R., Nelson, B., Nowaczyk, M. J., Rahbeeni, Z., Ben-Shachar, S., Shieh, J. T., Slavotinek, A., Sobering, A. K., Abbott, M. A., Allain, D. C., Amlie-Wolf, L., Au, P. Y. B., Bedoukian, E., Beek, G., Barry, J., Berg, J., Bernstein, J. A., Cytrynbaum, C., Chung, B. H. Y., Donoghue, S., Dorrani, N., Eaton, A., Flores-Daboub, J. A., Dubbs, H., Felix, C. A., Fong, C. T., Fung, J. L. F., Gangaram, B., Goldstein, A., Greenberg, R., Ha, T. K., Hersh, J., Izumi, K., Kallish, S., Kravets, E., Kwok, P. Y., Jobling, R. K., Knight Johnson, A. E., Kushner, J., Lee, B. H., Levin, B., Lindstrom, K., Manickam, K., Mardach, R., McCormick, E., McLeod, D. R., Mentch, F. D., Minks, K., Muraresku, C., Nelson, S. F., Porazzi, P., Pichurin, P. N., Powell-Hamilton, N. N., Powis, Z., Ritter, A., Rogers, C., Rohena, L., Ronspies, C., Schroeder, A., Stark, Z., Starr, L., Stoler, J., Suwannarat, P., Velinov, M., Weksberg, R., Wilnai, Y., Zadeh, N., Zand, D. J., Falk, M. J., Hakonarson, H., Zackai, E. H. & Quintero-Rivera, F., Jun 2021, In: American Journal of Medical Genetics, Part A. 185, 6, p. 1649-1665 17 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    34 Scopus citations
  • 2020

    Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

    Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., Johns, E., Uhas, K. A., Armstrong, L., Bosanko, K. A., Babovic-Vuksanovic, D., Baker, L., Basel, D. G., Bengala, M., Bennett, J. T., Chambers, C., Clarkson, L. K., Clementi, M., Cortés, F. M., Cunningham, M., & 88 othersD'Agostino, M. D., Delatycki, M. B., Digilio, M. C., Dosa, L., Esposito, S., Fox, S., Freckmann, M. L., Fauth, C., Giugliano, T., Giustini, S., Goetsch, A., Goldberg, Y., Greenwood, R. S., Griffis, C., Gripp, K. W., Gupta, P., Haan, E., Hachen, R. K., Haygarth, T. L., Hernández-Chico, C., Hodge, K., Hopkin, R. J., Hudgins, L., Janssens, S., Keller, K., Kelly-Mancuso, G., Kochhar, A., Korf, B. R., Lewis, A. M., Liebelt, J., Lichty, A., Listernick, R. H., Lyons, M. J., Maystadt, I., Martinez Ojeda, M., McDougall, C., McGregor, L. K., Melis, D., Mendelsohn, N., Nowaczyk, M. J. M., Ortenberg, J., Panzer, K., Pappas, J. G., Pierpont, M. E., Piluso, G., Pinna, V., Pivnick, E. K., Pond, D. A., Powell, C. M., Rogers, C., Ruhrman Shahar, N., Rutledge, S. L., Saletti, V., Sandaradura, S. A., Santoro, C., Schatz, U. A., Schreiber, A., Scott, D. A., Sellars, E. A., Sheffer, R., Siqveland, E., Slopis, J. M., Smith, R., Spalice, A., Stockton, D. W., Streff, H., Theos, A., Tomlinson, G. E., Tran, G., Trapane, P. L., Trevisson, E., Ullrich, N. J., Van den Ende, J., Schrier Vergano, S. A., Wallace, S. E., Wangler, M. F., Weaver, D. D., Yohay, K. H., Zackai, E., Zonana, J., Zurcher, V., Claes, K. B. M., Eoli, M., Martin, Y., Wimmer, K., De Luca, A., Legius, E. & Messiaen, L. M., Jan 1 2020, In: Human mutation. 41, 1, p. 299-315 17 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    82 Scopus citations
  • KMT2B-related disorders: Expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

    Cif, L., Demailly, D., Lin, J. P., Barwick, K. E., Sa, M., Abela, L., Malhotra, S., Chong, W. K., Steel, D., Sanchis-Juan, A., Ngoh, A., Trump, N., Meyer, E., Vasques, X., Rankin, J., Allain, M. W., Applegate, C. D., Isfahani, S. A., Baleine, J., Balint, B., & 91 othersBassetti, J. A., Baple, E. L., Bhatia, K. P., Blanchet, C., Burglen, L., Cambonie, G., Seng, E. C., Bastaraud, S. C., Cyprien, F., Coubes, C., d’Hardemare, V., Doja, A., Dorison, N., Doummar, D., Dy-Hollins, M. E., Farrelly, E., Fitzpatrick, D. R., Fearon, C., Fieg, E. L., Fogel, B. L., Forman, E. B., Fox, R. G., Gahl, W. A., Galosi, S., Gonzalez, V., Graves, T. D., Gregory, A., Hallett, M., Hasegawa, H., Hayflick, S. J., Hamosh, A., Hully, M., Jansen, S., Jeong, S. Y., Krier, J. B., Krystal, S., Kumar, K. R., Laurencin, C., Lee, H., Lesca, G., François, L. L., Lynch, T., Mahant, N., Martinez-Agosto, J. A., Milesi, C., Mills, K. A., Mondain, M., Morales-Briceno, H., Ostergaard, J. R., Pal, S., Pallais, J. C., Pavillard, F., Perrigault, P. F., Petersen, A. K., Polo, G., Poulen, G., Rinne, T., Roujeau, T., Rogers, C., Roubertie, A., Sahagian, M., Schaefer, E., Selim, L., Selway, R., Sharma, N., Signer, R., Soldatos, A. G., Stevenson, D. A., Stewart, F., Tchan, M., Verma, I. C., de Vries, B. B. A., Wilson, J. L., Wong, D. A., Zaitoun, R., Zhen, D., Znaczko, A., Dale, R. C., de Gusmão, C. M., Friedman, J., Fung, V. S. C., King, M. D., Mohammad, S. S., Rohena, L., Waugh, J. L., Toro, C., Raymond, F. L., Topf, M., Coubes, P., Gorman, K. M. & Kurian, M. A., 2020, In: Brain. 143, 11, p. 3242-3261 20 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    59 Scopus citations
  • 2018

    Looking deep into the eye-of-the-tiger in pantothenate kinase-associated neurodegeneration

    Lee, J. H., Gregory, A., Hogarth, P., Rogers, C. & Hayflick, S. J., Mar 1 2018, In: American Journal of Neuroradiology. 39, 3, p. 583-588 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    13 Scopus citations
  • 2016

    MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

    University of Washington Center for Mendelian Genomics, Dec 1 2016, In: American Journal of Human Genetics. 99, 6, p. 1229-1244 16 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    75 Scopus citations
  • 2015

    Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus

    Woltjer, R. L., Reese, L. C., Richardson, B. E., Tran, H., Green, S., Pham, T., Chalupsky, M., Gabriel, I., Light, T., Sanford, L., Jeong, S. Y., Hamada, J., Schwanemann, L. K., Rogers, C., Gregory, A., Hogarth, P. & Hayflick, S. J., 2015, In: Molecular Genetics and Metabolism. 116, 4, p. 289-297 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    15 Scopus citations