Calculated based on number of publications stored in Pure and citations from Scopus
20152023

Research activity per year

Search results

  • 2023

    Missense variant in RBM10 associated with mild and non-lethal form of TARP syndrome

    Potter, A. B., O'Brien, T. D., Kulkarni, A., McCabe, S., Matthews, K., Kovak, K., Rogers, C., Richards, C. S. & Moore, S., Aug 2023, In: Clinical Genetics. 104, 2, p. 269-271 3 p.

    Research output: Contribution to journalLetterpeer-review

    2 Scopus citations
  • 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

    Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration

    BPAN Guideline Contributing Author Group, Dec 2021, In: Developmental Medicine and Child Neurology. 63, 12, p. 1402-1409 8 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    18 Scopus citations
  • 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
    80 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
  • 2019

    A new NBIA patient from Turkey with homozygous C19ORF12 mutation

    Kasapkara, Ç. S., Tümer, L., Gregory, A., Ezgü, F., İnci, A., Derinkuyu, B. E., Fox, R., Rogers, C. & Hayflick, S., Dec 1 2019, In: Acta Neurologica Belgica. 119, 4, p. 623-625 3 p.

    Research output: Contribution to journalLetterpeer-review

    Open Access
    6 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