Carlos Eduardo Steiner

13PUBLICATIONS
51CO-AUTHORS
Molecular evolutionMedical infection agents (incl. prions)Genetic immunologyCancer geneticsEpigenetics (incl. genome methylation and epigenomics)
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Publications (13)

|Oct 16, 2026
A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review.

|Sep 18, 2026
First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant.

|Jul 29, 2026
Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses.

|Jun 29, 2026
Oncogenetics training in Brazilian medical genetics residency programs: current landscape and challenges.

|May 21, 2026
A comprehensive approach to users from a Brazilian clinical genetics service: an observational study.

|Jun 26, 2024
Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.

Patricia C Mazzonetto, Darine Villela, Ana C V Krepischi

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Frequent Collaborators

6 joint publications

Társis Paiva Vieira

5 joint publications

Vera Lúcia Gil-da-Silva-Lopes

2 joint publications

Yorran Hardman Araújo Montenegro

2 joint publications

Carolina Fischinger Moura de Souza