• 21 Citations
  • 2 h-Index
20172019

Research output per year

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Research Output

  • 21 Citations
  • 2 h-Index
  • 7 Article

A Jittery Newborn With an Abnormal Newborn Screen

Cooper, E. E., Szumlas, G. A., Lombardo, R. C. & Real, F. J., Oct 1 2019, In : Clinical Pediatrics. 58, 11-12, p. 1354-1356 3 p.

Research output: Contribution to journalArticle

A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia

Aljeaid, D., Lombardo, R. C., Witte, D. P. & Hopkin, R. J., Jun 2019, In : American Journal of Medical Genetics, Part A. 179, 6, p. 1010-1014 5 p.

Research output: Contribution to journalArticle

  • Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13

    Russell, B. E., Whaley, K. G., Bove, K. E., Labilloy, A., Lombardo, R. C., Hopkin, R. J., Leslie, N. D., Prada, C., Assouline, Z., Barcia, G., Bouchereau, J., Chomton, M., Debray, D., Dorboz, I., Durand, P., Gaignard, P., Habes, D., Jardel, C., Labarthe, F., Lévy, J. & 13 others, Lombès, A., Mehler-Jacob, C., Melki, J., Menvielle, L., Munnich, A., Mussini, C., Pichard, S., Rio, M., Rötig, A., Sissaoui, S., Slama, A., Miethke, A. G. & Schiff, M., Sep 1 2019, In : Hepatology. 70, 3, p. 1066-1070 5 p.

    Research output: Contribution to journalArticle

    2 Scopus citations

    Neonatal Lung Disease Associated with TBX4 Mutations

    Suhrie, K., Pajor, N. M., Ahlfeld, S. K., Dawson, D. B., Dufendach, K. R., Kitzmiller, J. A., Leino, D., Lombardo, R. C., Smolarek, T. A., Rathbun, P. A., Whitsett, J. A., Towe, C. & Wikenheiser-Brokamp, K. A., Mar 2019, In : Journal of Pediatrics. 206, p. 286-292.e1

    Research output: Contribution to journalArticle

  • 9 Scopus citations

    Congenital heart disease and aortic arch variants associated with mutation in PHOX2B

    Lombardo, R. C., Porollo, A., Cnota, J. F. & Hopkin, R. J., Dec 1 2018, In : Genetics in Medicine. 20, 12, p. 1538-1543 6 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations