Hager Jaouadi

发表

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

N. Lévy, S. Abdelhak, S. Zaffran, 2019, Genetics research.

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features

N. Lévy, S. Abdelhak, S. Zaffran, 2018, Journal of Human Genetics.

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.

Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants

S. Zaffran, C. Ovaert, A. Cano, 2022, International journal of molecular sciences.

SCN5A Variants as Genetic Arrhythmias Triggers for Familial Bileaflet Mitral Valve Prolapse

J. Deharo, J. Aviérinos, F. Collart, 2022, International journal of molecular sciences.

H syndrome: Clinical, histological and genetic investigation in Tunisian patients

S. Abdelhak, M. Mokni, O. Messaoud, 2018, The Journal of dermatology.

Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology

T. Bourgeron, S. Abdelhak, B. Regnault, 2018, Journal of Applied Genetics.

Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease

J. Aviérinos, G. Collod-Béroud, F. Collart, 2022, Journal of Human Genetics.

Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy

S. Zaffran, L. Kraoua, Hager Jaouadi, 2023, International journal of molecular sciences.

Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young

N. Lévy, S. Abdelhak, M. Nagara, 2020, Herz.

Rare and Common Variants in KIF15 Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis.

I. Noth, G. Raghu, S. Petrovski, 2022, American journal of respiratory and critical care medicine.

Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD

J. Aviérinos, S. Zaffran, C. Jopling, 2023, Journal of Translational Medicine.

Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish

R. Redon, J. Aviérinos, R. Rezsohazy, 2023, Nature Communications.

Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology

T. Bourgeron, S. Abdelhak, B. Regnault, 2018, Journal of Applied Genetics.

Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance

S. Abdelhak, S. Zaffran, S. Chabrak, 2021, Clinical Case Reports.