A. Achour

The Evolving Role of Next-Generation Sequencing in Screening and Diagnosis of Hemoglobinopathies

F. Baas, T. Koopmann, C. Harteveld, 2021, Frontiers in Physiology.

Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome

S. Zaffran, R. M’rad, M. Allouche, 2022, Molecular genetics & genomic medicine.

The hemoglobinopathies, molecular disease mechanisms and diagnostics

T. Koopmann, C. Harteveld, S. Arkesteijn, 2022, International journal of laboratory hematology.

Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis

I. Ouertani, M. Kharrat, F. Maazoul, 2022, Pediatric Nephrology.

A new gene associated with a beta-thalassemia phenotype: the observation of variants in SUPT5H.

F. Baas, C. Ruivenkamp, J. Traeger-Synodinos, 2020, Blood.

The first report of hemoglobin E in combination with the highly unstable alpha‐globin variant Hb Adana: The importance of molecular confirmation

C. Harteveld, S. Arkesteijn, E. D. de Grouw, 2019, International journal of laboratory hematology.

Mandibuloacral dysplasia type A in five tunisian patients

I. Hannachi, H. Marmouch, K. Monastiri, 2021 .

Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report

M. Ben Rekaya, S. Rammeh, N. Belguith, 2023, Frontiers in oncology.