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Carolina I Galarreta · SciRah

Researcher profile · Semantic Scholar

Carolina I Galarreta

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Carolina I Galarreta — researcher profile on SciRah

h-index: 13
Works: 28
Citations: 802

Most-cited papers

Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
David Dimmock, Sara A. Caylor, Bryce M Waldman, Wendy Benson +31 more
2021American Journal of Human Genetics258 citations Open access
Semantic Scholar
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico
A. Scocchia, Kristen M. Wigby, D. Masser-Frye, M. Del Campo +13 more
2019npj Genomic Medicine88 citations Open access
Semantic Scholar
Fight-or-flight: murine unilateral ureteral obstruction causes extensive proximal tubular degeneration, collecting duct dilatation, and minimal fibrosis.
M. S. Forbes, B. Thornhill, Jordan J Minor, Katherine A Gordon +2 more
2012AJP - Renal Physiology81 citations Open access
Semantic Scholar
Renal functional decline and glomerulotubular injury are arrested but not restored by release of unilateral ureteral obstruction (UUO).
W. Chaabane, F. Praddaude, M. Buléon, A. Jaafar +5 more
2013AJP - Renal Physiology55 citations
Semantic Scholar
The swan-neck lesion: proximal tubular adaptation to oxidative stress in nephropathic cystinosis.
Carolina I Galarreta, M. S. Forbes, B. Thornhill, C. Antignac +4 more
2015AJP - Renal Physiology44 citations
Semantic Scholar
Tubular obstruction leads to progressive proximal tubular injury and atubular glomeruli in polycystic kidney disease.
Carolina I Galarreta, J. Grantham, M. S. Forbes, R. Maser +2 more
2014American Journal of Pathology42 citations Open access
Semantic Scholar
Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature
P. Y. Billie Au, Caitlin Goedhart, Marcia Ferguson, J. Breckpot +13 more
2018European Journal of Human Genetics39 citations Open access
Semantic Scholar
Chronic unilateral ureteral obstruction in the neonatal mouse delays maturation of both kidneys and leads to late formation of atubular glomeruli.
M. S. Forbes, B. Thornhill, Carolina I Galarreta, Jordan J Minor +2 more
2013AJP - Renal Physiology28 citations Open access
Semantic Scholar
Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study
Carolina I Galarreta, F. Vaida, L. Bird
2020American Journal of Medical Genetics. Part A26 citations
Semantic Scholar
Transforming growth factor-β1 receptor inhibition preserves glomerulotubular integrity during ureteral obstruction in adults but worsens injury in neonatal mice.
Carolina I Galarreta, B. Thornhill, M. S. Forbes, Lauren N Simpkins +2 more
2013AJP - Renal Physiology21 citations Open access
Semantic Scholar
A primary cardiac osteosarcoma: Case report and review of the literature.
Cristian Aguilar, Jean A Donet, Carolina I Galarreta, A. Yábar
2013Journal of Cardiology Cases18 citations Open access
Semantic Scholar
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)
I. Manoli, Alexandra R. Pass, Elizabeth A Harrington, J. Sloan +17 more
2021Genetics in Medicine16 citations Open access
Semantic Scholar
The Fate of Nephrons in Congenital Obstructive Nephropathy: Adult Recovery is Limited by Nephron Number Despite Early Release of Obstruction
M. Sergio, Carolina I Galarreta, B. Thornhill, M. S. Forbes +1 more
2015Journal of Urology14 citations Open access
Semantic Scholar
Responses of Proximal Tubular Cells to Injury in Congenital Renal Disease: Fight or Flight
R. Chevalier, M. S. Forbes, Carolina I Galarreta, B. Thornhill
2013Pediatric nephrology (Berlin, West)12 citations Open access
Semantic Scholar
Table of Contents, Volume 191A, Number 8, August 2023
Siddharth Srivastava, M. Sahin, J. Buxbaum, Elizabeth G. Berry +65 more
2023American Journal of Medical Genetics. Part A10 citations Open access
Semantic Scholar
Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia
M. Rohanizadegan, Sarah A. Tracy, Carolina I Galarreta, Tabitha Poorvu +4 more
2020American Journal of Medical Genetics. Part A9 citations
Semantic Scholar
Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.
Carolina I Galarreta, Kristen M. Wigby, Marilyn C. Jones
2019Clinical Dysmorphology9 citations
Semantic Scholar
A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder
Carolina I Galarreta, K. Wong, Jason Carmichael, Jeremy D. Woods +5 more
2023American Journal of Medical Genetics. Part A8 citations
Semantic Scholar
A POPULATION OF MITOCHONDRION-RICH CELLS IN PARS RECTA OF MOUSE KIDNEY
M. S. Forbes, B. Thornhill, Carolina I Galarreta, R. L. Chevalier
2015Cell and Tissue Research6 citations Open access
Semantic Scholar
Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype
Carolina I Galarreta, Colleen Kennedy, David R. Blair, A. Slavotinek
2022American Journal of Medical Genetics. Part A5 citations
Semantic Scholar
[Primary T cell lymphoma of the pancreas: clinical case report].
Carolina I Galarreta, E. Yepez, C. Vélez, Giorgio Aita
2012REVISTA DE GASTROENTEROLOGIA DEL PERU5 citations
Semantic Scholar
Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance
Adriana Gomes, Laura Forero Zapata, Carolina I Galarreta, Riley Henderson +3 more
2023American Journal of Medical Genetics. Part A4 citations
Semantic Scholar
Expansion of the core features of VACTERL association to include genital anomalies
Laura T Forero, Riley Henderson, Carolina I Galarreta, Steven Swee +1 more
2024American Journal of Medical Genetics. Part A3 citations Open access
Semantic Scholar
The Fate of Nephrons in Congenital Obstructive Nephropathy:Adult Recovery is Limited by Nephron Number
M. Sergio, Carolina I Galarreta, B. Thornhill, M. S. Forbes +1 more
20142 citations
Semantic Scholar
Ear anomalies and hearing loss in patients with VACTERL association and the effect of maternal diabetes
Carolina I Galarreta, Erin Hoyt, Laura Forero, C. Curry +1 more
2023American Journal of Medical Genetics. Part A1 citations Open access
Semantic Scholar
Linfoma Primario de Células T del Páncreas: Presentación de un Caso Clínico
Carolina I Galarreta, E. Yépez, Cristian Vélez, Giorgio Aita
20121 citations
Semantic Scholar
LATE ONSET COBALAMIN C DISEASE IN AN ADOLESCENT PATIENT OF MIXTECO ANCESTRY AND RESPONSE TO TREATMENT
Erin Hoyt, J. Luce, Carolina I Galarreta
2022Molecular Genetics and Metabolism0 citations
Semantic Scholar
Correction to: 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)
I. Manoli, Alexandra R. Pass, Elizabeth A Harrington, J. Sloan +17 more
2021Genetics in Medicine0 citations Open access
Semantic Scholar

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