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Beggs Laboratory Research

Research Overview

Aslı Aykanat is a research fellow in the Beggs Laboratory at Boston Children's Hospital. Currently she is trying to model TNNT1 and ACTA1a related nemaline myopathies in zebrafish. Her aim is to use these models to understand the pathogenesis of different mutations and eventually use them in small molecule screens in order to develop new therapeutic approaches. She also takes part in natural language processing studies that aim to encode clinical presentations of patients in HPO terms.

Publications

  1. Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy. Neurol Genet. 2022 Dec; 8(6):e200027. View Abstract
  2. A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders. HGG Adv. 2021 Jul; 2(3). View Abstract
  3. Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians. Ann Neurol. 2020 04; 87(4):568-583. View Abstract
  4. Posttranscriptional manipulation of TERC reverses molecular hallmarks of telomere disease. J Clin Invest. 2016 09 01; 126(9):3377-82. View Abstract
  5. Serum Uric Acid and Risk for Acute Kidney Injury Following Contrast. Angiology. 2017 Feb; 68(2):132-144. View Abstract

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