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Patricia Galvin-Parton

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Patricia Galvin-Parton

    1990 …2026

    Research activity per year

    Personal profile

    Research interests

    Chromosome abnormalities, intellectual disabilities, dysmorphic features, neurogenetic disorders such as neurofibromatosis, and birth defects

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    View all 6 grants & projects

    • De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder

      Undiagnosed Diseases Network, Apr 2026, In: European Journal of Human Genetics. 34, 4, p. 554-564 11 p.

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

      Open Access
      1 Scopus citations

    • Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency

      Hart, K., Rohrwasser, A., Wallis, H., Golsan, H., Shao, J., Anderson, T., Wang, X., Szabo-Fresnais, N., Morrissey, M., Kay, D. M., Wojcik, M., Galvin-Parton, P. A., Longo, N., Caggana, M. & Pasquali, M., Sep 1 2021, In: Molecular Genetics and Metabolism. 134, 1-2, p. 60-64 5 p.

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

      15 Scopus citations

    • Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

      Koczkowska, M., Chen, Y., Callens, T., Gomes, A., Sharp, A., Johnson, S., Hsiao, M. C., Chen, Z., Balasubramanian, M., Barnett, C. P., Becker, T. A., Ben-Shachar, S., Bertola, D. R., Blakeley, J. O., Burkitt-Wright, E. M. M., Callaway, A., Crenshaw, M., Cunha, K. S., Cunningham, M. & D'Agostino, M. D. & 55 others, Dahan, K., De Luca, A., Destrée, A., Dhamija, R., Eoli, M., Evans, D. G. R., Galvin-Parton, P., George-Abraham, J. K., Gripp, K. W., Guevara-Campos, J., Hanchard, N. A., Hernández-Chico, C., Immken, L. D., Janssens, S., Jones, K. J., Keena, B. A., Kochhar, A., Liebelt, J., Martir-Negron, A., Mahoney, M. J., Maystadt, I., McDougall, C., McEntagart, M., Mendelsohn, N., Miller, D. T., Mortier, G., Morton, J., Pappas, J., Plotkin, S. R., Pond, D., Rosenbaum, K., Rubin, K., Russell, L., Rutledge, L. S., Saletti, V., Schonberg, R., Schreiber, A., Seidel, M., Siqveland, E., Stockton, D. W., Trevisson, E., Ullrich, N. J., Upadhyaya, M., van Minkelen, R., Verhelst, H., Wallace, M. R., Yap, Y. S., Zackai, E., Zonana, J., Zurcher, V., Claes, K., Martin, Y., Korf, B. R., Legius, E. & Messiaen, L. M., Jan 4 2018, In: American Journal of Human Genetics. 102, 1, p. 69-87 19 p.

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

      Open Access
      196 Scopus citations

    • Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy

      Nakayama, T., Wu, J., Galvin-Parton, P., Weiss, J., Andriola, M. R., Hill, R. S., Vaughan, D. J., El-Quessny, M., Barry, B. J., Partlow, J. N., Barkovich, A. J., Ling, J. & Mochida, G. H., Oct 2017, In: Human Mutation. 38, 10, p. 1348-1354 7 p.

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

      66 Scopus citations

    • Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State

      Wasserstein, M. P., Andriola, M., Arnold, G., Aron, A., Duffner, P., Erbe, R. W., Escolar, M. L., Estrella, L., Galvin-Parton, P., Iglesias, A., Kay, D. M., Kronn, D. F., Kurtzberg, J., Kwon, J. M., Langan, T. J., Levy, P. A., Naidich, T. P., Orsini, J. J., Pellegrino, J. E. & Provenzale, J. M. & 2 others, Wenger, D. A. & Caggana, M., Dec 1 2016, In: Genetics in Medicine. 18, 12, p. 1235-1243 9 p.

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

      Open Access
      89 Scopus citations
    View all 23 Research outputs