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Rachel C. Lombardo
Observed name:
Rachel Lombardo
Observed institutions:
Cincinnati Children's Hospital Medical Center,
Phoenix Children's Hospital,
The University of Texas Medical Branch at Galveston,
University of Cincinnati,
The University of Texas Southwestern Medical Center
ORCID:
0000-0002-4810-4779
Observed ORCID:
0000-0002-4810-4779
OpenAlex ID:
A5032857701
Neonatal Lung Disease Associated with TBX4 Mutations
2018
·
Kristen Suhrie
, Nathan M. Pajor
, et al.
·
The Journal of Pediatrics
·
70
Expanding and Underscoring the Hepato‐Encephalopathic Phenotype of QIL1/MIC13
2019
·
Bianca E. Russell
, Kaitlin G. Whaley
, et al.
·
Hepatology
·
26
Variable phenotype in a novel mutation in PHOX2B
2017
·
Rachel C. Lombardo
, Elizabeth Kramer
, et al.
·
American Journal of Medical Genetics Part A
·
19
Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism
2019
·
Aditi Gupta
, Nikita R. Dsouza
, et al.
·
European Journal of Medical Genetics
·
17
Congenital heart disease and aortic arch variants associated with mutation in PHOX2B
2018
·
Rachel C. Lombardo
, Aleksey Porollo
, et al.
·
Genetics in Medicine
·
15
Cantu syndrome: A longitudinal review of vascular findings in three individuals
2020
·
Ashley Parrott
, Rachel Lombardo
, et al.
·
American Journal of Medical Genetics Part A
·
13
A novel pathogenic variant in OFD1 results in X‐linked Joubert syndrome with orofaciodigital features and pituitary aplasia
2019
·
Deema Aljeaid
, Rachel C. Lombardo
, et al.
·
American Journal of Medical Genetics Part A
·
13
Congenital lumbar hernia–A feature of diabetic embryopathy?
2018
·
Cathy A. Stevens
, Jacob S. Hogue
, et al.
·
American Journal of Medical Genetics Part A
·
5
A proposed role for CDO1 in CNS development: Three children with rare missense variants and a neurological phenotype
2025
·
Leah Rowe
, Sureni V. Mullegama
, et al.
·
Human Genetics and Genomics Advances
·
3
Mangement of Non-Orthopedic Aspects in Adults with Skeletal Dysplasia
2026
·
Janet Legare
, Rachel C. Lombardo
·
Medical Research Archives
P460: Expanding the phenotype: Coarctation of the aorta as a novel clinical feature of Baraitser-Winter syndrome
2024
·
Taylor Myers
, Rachel Lombardo
·
Genetics in Medicine Open
PDF
A Jittery Newborn With an Abnormal Newborn Screen
2019
·
Ellen E. Cooper
, Gregory A. Szumlas
, et al.
·
Clinical Pediatrics
Methylmalonic Acidemia: Can Treatment be Improved?
2015
·
Kimberlee Michals-Matalon
, Rachel Lombardo
, et al.
·
Journal of Nutritional Therapeutics
PDF
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Works count:
13
Citation count:
181
H-index:
7
I10-index:
7
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