Nara Sobriera

21PUBLICATIONS
89CO-AUTHORS
Clinical nutritionSoftware testing, verification and validationGene expression (incl. microarray and other genome-wide approaches)Cancer geneticsEpigenetics (incl. genome methylation and epigenomics)
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Publications (21)

|Oct 14, 2026
Characterization of familial short stature with or without skeletal dysplasia in a Pakistani cohort reveals founder mutations as well as novel variants.

|Mar 08, 2026
VariantMatcher: Phenotypic and Genomic Data Sharing to Facilitate Variant Classification and Disease Gene Discovery.

Darine Villela, Marcelo Szeremeta, Joselito Sobreira

|Aug 20, 2025
Assessing the impact of exome sequencing on diagnostic yield in a large cohort of Brazilian patients.

Aline Cristiane Planello, Thereza Loureiro, Dayse Alencar-Cupertino

|Nov 27, 2024
Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes.

Orli Michaeli, Sun Young Kim, Sarah G Mitchell

|Nov 08, 2024
Ring Chromosome 17 Syndrome-A Case Report and Discussion of Diagnostic Methods.

Sun Young Kim, Elizabeth Wohler, Maria Jimena Gutierrez

|Jun 21, 2024
Identification and analyses of exonic and copy number variants in spastic paraplegia.

Anum Shafique, Ayesha Nadeem, Faiza Aslam

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Frequent Collaborators

4 joint publications

David Valle

4 joint publications

Darine Villela

3 joint publications

Clifford R Weiss

3 joint publications

Sadaf Naz