Author

Débora Romeo Bertola

Universidade de São PauloORCID 0000-0002-4701-6777Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Assay:metabolomics· 1 Assay:proteomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Ana Cristina Victorino KrepischiiD· 1 shared Angela Maria Vianna‐MorganteiD· 1 shared Arianna Franca AnzmanniD· 1 shared Carla RosenbergiD· 1 shared Courtney E. Woods· 1 shared Darine VillelaiD· 1 shared David L. ValleiD· 1 shared David Schlesinger· 1 shared

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Ana Cristina Victorino KrepischiORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Chromosomal microarray analyses from 5,778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

Ana Cristina Victorino Krepischi, Darine Villela, Silvia Souza da Costa, Patricia C. Mazzonetto, Juliana da Silveira Schauren, Michele Patricia Migliavacca, Fernanda Milanezi, Juliana Gomes dos Santos, Gustavo Guida, Rodrigo Guarischi‐Sousa, Gustavo Campana, Fernando Kok, David Schlesinger, João Paulo Kitajima, Francine Campagnari, , Carla Rosenberg

This study analyzes chromosomal microarray data from 5,778 Brazilian patients with neurodevelopmental disorders and congenital anomalies to assess genetic bases and evaluate cost-effectiveness of variant analysis.

Scientific Reports · Sep 7, 2022Peer-reviewedGenetic & Genomic Medicine

Loss of function variants in PCYT1A causing spondylometaphyseal dysplasia with cone/rod dystrophy have broad consequences on lipid metabolism, chondrocyte differentiation, and lipid droplet formation.

Julie A. Jurgens, Suming Chen, Nara Lygia de Macena Sobreira, Sarah Robbins, Arianna Franca Anzmann, Raha Maryam Dastgheyb, Saja S. Khuder, Julie Elizabeth Hoover-Fong, Courtney E. Woods, Felicity A. Collins, John Christodoulou, Guilherme Lopes Yamamoto, Débora Romeo Bertola, Wagner Antonio da Rosa Baratela, Sophie D. Curie, , David L. Valle

This study investigates the effects of PCYT1A variants on lipid metabolism, chondrocyte differentiation, and lipid droplet formation using cellular models and lipidomics.

bioRxiv · Dec 19, 2019 · PreprintGenetics