Claudia M B Carvalho

26PUBLICATIONS
124CO-AUTHORS
Data qualityEpigenetics (incl. genome methylation and epigenomics)GenomicsGene expression (incl. microarray and other genome-wide approaches)Molecular targets
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Publications (26)

|Jun 04, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

|Apr 07, 2026
De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline.

Katherine Helle, Jesse D Bengtsson, Mira Gandhi

|Nov 24, 2025
Constellation illuminates rare disease genetics.

Siyuan Cheng, Qing Zhang, Xinchang Zheng

|Nov 24, 2025
A telomere-to-telomere map of somatic mutation burden and functional impact in cancer.

Min-Hwan Sohn, Danilo Dubocanin, Mitchell R Vollger

|Feb 28, 2025
Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets.

Tugce Bozkurt-Yozgatli, Ming Yin Lun, Jesse D Bengtsson

|Dec 19, 2024
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

Davut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar

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Frequent Collaborators

10 joint publications

James R Lupski

7 joint publications

Jennifer Posey

4 joint publications

Daniel G Calame

4 joint publications

Fritz J Sedlazeck