• 17 Citations
  • 2 h-Index
20172019
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Fingerprint Dive into the research topics where Rachel Lombardo is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

Mutation Medicine & Life Sciences
Infant, Newborn, Diseases Medicine & Life Sciences
Heart Diseases Medicine & Life Sciences
Fetal Diseases Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Thoracic Aorta Medicine & Life Sciences
Lung Diseases Medicine & Life Sciences
Hernia Medicine & Life Sciences

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Research Output 2017 2019

  • 17 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

Endocrine System
Pituitary Gland
Orofaciodigital Syndromes
Genes
Endocrine Glands
1 Citation (Scopus)

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

Phenotype
7 Citations (Scopus)

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

Infant, Newborn, Diseases
Lung Diseases
Mutation
Clinical Pathology
Respiratory Insufficiency
1 Citation (Scopus)

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

Thoracic Aorta
Heart Diseases
Mutation
Homeobox Genes
Genetic Databases