David Valle

Professor

1971 …2020

Research output per year

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Research Output

The utility of exome sequencing for fetal pleural effusions

Jelin, A. C., Sobreira, N., Wohler, E., Solomon, B., Sparks, T., Sagaser, K. G., Forster, K. R., Miller, J., Witmer, P. D., Hamosh, A., Valle, D. & Blakemore, K., Jan 1 2020, (Accepted/In press) In : Prenatal Diagnosis.

Research output: Contribution to journalArticle

  • 2018 Victor A. McKusick Leadership Award Introduction: James R. Lupski

    Valle, D., Mar 7 2019, In : American journal of human genetics. 104, 3, p. 389-390 2 p.

    Research output: Contribution to journalComment/debate

    Apparent acetaminophen toxicity in a patient with transaldolase deficiency

    Lee-Barber, J., English, T. E., Britton, J. F., Sobreira, N., Goldstein, J., Valle, D. & Bjornsson, H. T., Jan 1 2019, JIMD Reports. Springer, p. 9-15 7 p. (JIMD Reports; vol. 44).

    Research output: Chapter in Book/Report/Conference proceedingChapter

  • Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

    Rafehi, H., Szmulewicz, D. J., Bennett, M. F., Sobreira, N. L. M., Pope, K., Smith, K. R., Gillies, G., Diakumis, P., Dolzhenko, E., Eberle, M. A., Barcina, M. G., Breen, D. P., Chancellor, A. M., Cremer, P. D., Delatycki, M. B., Fogel, B. L., Hackett, A., Halmagyi, G. M., Kapetanovic, S., Lang, A. & 13 others, Mossman, S., Mu, W., Patrikios, P., Perlman, S. L., Rosemergy, I., Storey, E., Watson, S. R. D., Wilson, M. A., Zee, D. S., Valle, D., Amor, D. J., Bahlo, M. & Lockhart, P. J., Jul 3 2019, In : American journal of human genetics. 105, 1, p. 151-165 15 p.

    Research output: Contribution to journalArticle

    Open Access