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Laurie Sadler

Clinical associate professor (gft)

    1993 …2022

    Research activity per year

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    • Impaired wound healing following cranial vault reconstruction in a patient with an atypical phenotype of Marfan syndrome: A case report

      Recker, M. J., Kronenwetter, N., Reynolds, R. M., Sadler, L. S. & Markiewicz, M. R., 2022, In: Surgical Neurology International. 13

      University at Buffalo

      Research output: Contribution to journalArticlepeer-review

      Open Access
      2 Scopus citations
    • The RRAS2 pathogenic variant p.Q72L produces severe Noonan syndrome with hydrocephalus: A case report

      Weinstock, N. I. & Sadler, L., Jan 2022, In: American Journal of Medical Genetics, Part A. 188, 1, p. 364-368 5 p.

      University at Buffalo

      Research output: Contribution to journalArticlepeer-review

      10 Scopus citations
    • A Possible case of Facio-Auriculo-Vertebral sequence (FAVs) in an adult female from medieval Iceland (13th–16th Century)

      Hoffman, S., Sadler, L., Totman, T. & Bagne, L., Mar 2019, In: International Journal of Paleopathology. 24, p. 41-47 7 p.

      University at Buffalo

      Research output: Contribution to journalArticlepeer-review

      1 Scopus citations
    • Mutation update for the SATB2 gene

      Zarate, Y. A., Bosanko, K. A., Caffrey, A. R., Bernstein, J. A., Martin, D. M., Williams, M. S., Berry-Kravis, E. M., Mark, P. R., Manning, M. A., Bhambhani, V., Vargas, M., Seeley, A. H., Estrada-Veras, J. I., van Dooren, M. F., Schwab, M., Vanderver, A., Melis, D., Alsadah, A., Sadler, L. & Van Esch, H. & 28 others, Callewaert, B., Oostra, A., Maclean, J., Dentici, M. L., Orlando, V., Lipson, M., Sparagana, S. P., Maarup, T. J., Alsters, S. I. M., Brautbar, A., Kovitch, E., Naidu, S., Lees, M., Smith, D. M., Turner, L., Raggio, V., Spangenberg, L., Garcia-Miñaúr, S., Roeder, E. R., Littlejohn, R. O., Grange, D., Pfotenhauer, J., Jones, M. C., Balasubramanian, M., Martinez-Monseny, A., Blok, L. S., Gavrilova, R. & Fish, J. L., 2019, In: Human Mutation. 40, 8, p. 1013-1029 17 p.

      University at Buffalo

      Research output: Contribution to journalArticlepeer-review

      Open Access
      53 Scopus citations
    • HCN1 mutation spectrum: From neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

      Marini, C., Porro, A., Rastetter, A., Dalle, C., Rivolta, I., Bauer, D., Oegema, R., Nava, C., Parrini, E., Mei, D., Mercer, C., Dhamija, R., Chambers, C., Coubes, C., Thévenon, J., Kuentz, P., Julia, S., Pasquier, L., Dubourg, C. & Carré, W. & 50 others, Rosati, A., Melani, F., Pisano, T., Giardino, M., Innes, A. M., Alembik, Y., Scheidecker, S., Santos, M., Figueiroa, S., Garrido, C., Fusco, C., Frattini, D., Spagnoli, C., Binda, A., Granata, T., Ragona, F., Freri, E., Franceschetti, S., Canafoglia, L., Castellotti, B., Gellera, C., Milanesi, R., Mancardi, M. M., Clark, D. R., Kok, F., Helbig, K. L., Ichikawa, S., Sadler, L., Neupauerová, J., Laššuthova, P., Štěrbová, K., Laridon, A., Brilstra, E., Koeleman, B., Lemke, J. R., Zara, F., Striano, P., Soblet, J., Smits, G., Deconinck, N., Barbuti, A., Difrancesco, D., Leguern, E., Guerrini, R., Santoro, B., Hamacher, K., Thiel, G., Moroni, A., Difrancesco, J. C. & Depienne, C., Nov 1 2018, In: Brain. 141, 11, p. 3160-3178 19 p.

      University at Buffalo

      Research output: Contribution to journalArticlepeer-review

      Open Access
      117 Scopus citations