Rachel C. Lombardo

Neonatal Lung Disease Associated with TBX4 Mutations

Kristen Suhrie, Nathan M. Pajor, Shawn K. Ahlfeld et al. · The Journal of Pediatrics · 2018 · 69 citations

Medicine, Genetics, Molecular Genetics +13

Variable phenotype in a novel mutation in <i>PHOX2B</i>

Rachel C. Lombardo, Elizabeth L. Kramer, James Cnota et al. · American Journal of Medical Genetics Part A · 2017 · 18 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Rachel C. Lombardo, Aleksey Porollo, James Cnota et al. · Genetics in Medicine · 2018 · 15 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism

Aditi Gupta, Nikita R. Dsouza, Yuri A. Zárate et al. · European Journal of Medical Genetics · 2019 · 15 citations

Life Sciences, Genetics, Molecular Genetics +11

A novel pathogenic variant in <i>OFD1</i> results in X‐linked Joubert syndrome with orofaciodigital features and pituitary aplasia

Deema Aljeaid, Rachel C. Lombardo, David P. Witte et al. · American Journal of Medical Genetics Part A · 2019 · 13 citations

Medicine, Endocrinology, Genetics +17