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Stéphane Zaffran

Affiliation : Inserm · Aix-Marseille Université · Centre de Génétique Médicale de Marseille

• 7Publications (affiliation in France)
• 199Total publications
• 8982Citations
• 42h-index

ORCIDOpenAlex

Research profile

Stéphane Zaffran has 7 indexed publications (2018–2024). Their work appears mainly in “Molecular Genetics & Genomic Medicine”, “International Journal of Molecular Sciences” and “Clinical Case Reports”. Their most cited article, “Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features” (2018), has been cited 29 times. 4 of these publications date from the last three years of activity. Their work is co-authored with at least 6 researchers, including institutions in Tunisia.

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Research areas

• Congenital heart defects research
• Developmental Biology and Gene Regulation
• Cardiac electrophysiology and arrhythmias
• Cardiac Valve Diseases and Treatments
• Congenital Heart Disease Studies

Publications (7)

• Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy
  2024 · Molecular Genetics & Genomic Medicine · cited 5 times
• Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy
  2023 · International Journal of Molecular Sciences · cited 18 times
• 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
  2022 · Molecular Genetics & Genomic Medicine · cited 14 times
• 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
  2022 · Clinical Case Reports · cited 12 times
• Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young
  2020 · Herz · cited 12 times
• A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide withRAF1S259Y neomutation
  2019 · Genetics Research · cited 5 times
• Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features
  2018 · Journal of Human Genetics · cited 29 times

Publication venues

• Molecular Genetics & Genomic Medicine × 2
• International Journal of Molecular Sciences × 1
• Clinical Case Reports × 1
• Herz × 1
• Genetics Research × 1
• Journal of Human Genetics × 1

Publications per year

• 20241
• 20231
• 20222
• 20201
• 20191
• 20181

Collaborations

Partner institutions : Hôpital de la Timone · Institut Pasteur de Tunis

Co-authors’ countries : Tunisia

Co-authors

• Hager Jaouadi
• Nicolas Lévy
• Valérie Delague
• Laurent Argiro
• Heather Etchevers
• Sahar Elouej

Bibliographic data from OpenAlex (open database).