@ARTICLE{
author={Bjelica Milena,Stojadinovic Aleksandra,Knezevic-Pogancev Marija F,Koprivsek Katarina M,Sass Jorn Oliver,Gruenert Sarah C,Wuensche Falko,Yamamoto Raina},
year={2025},
title={3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report of a child with rare HMGCL gene variants},
journal={JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM},
volume={},
number={},
pages={-},
document_type={Article; Early Access},
} 

@ARTICLE{
author={Laudus Nele,Torkler Heike,Yamamoto Raina,Raynal Caroline,Audrezet Marie-Pierre,Badenas Celia,Radojkovic Dragica P,Seia Manuela,Giannone Valentina,Dequeker Els},
year={2024},
title={Exploring the knowledge of genetics laboratories on CFTR modulator therapy eligibility: findings and reflections during external quality assessment},
journal={EUROPEAN JOURNAL OF HUMAN GENETICS},
volume={32},
number={},
pages={635-636},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Laudus Nele,Audrezet Marie-Pierre,Girodon Emmanuelle,Morris Michael A,Radojkovic Dragica P,Raynal Caroline,Seia Manuela,Stambergova Alexandra,Torkler Heike,Yamamoto Raina,Dequeker Elisabeth MC},
year={2020},
title={Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement},
journal={JOURNAL OF CYSTIC FIBROSIS},
volume={19},
number={6},
pages={969-974},
document_type={Article},
}