I am a human geneticist with a strong interest and experience in genomics and computational analysis of genomic data to diagnose and understand hereditary diseases. My research focuses on identifying and characterizing genetic variants associated with inherited disorders using patient-derived data and disease models. I am currently working at the Laboratory of Hereditary Renal Diseases at the Imagine Institute in Paris. My goal is to integrate genomic analysis with functional modeling to advance genetic diagnostics and develop gene therapies.

• Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique. American Journal of Kidney Diseases 2025.

  Jessica Kachmar, Hassan Saei, Vincent Morinière, Laurence Heidet, Bertrand Knebelmann, Olivier Gribouval, Manon Mautret-Godefroy, Stéphane Burtey, Vincent Vuiblet, Asma Alla, Axel Ibalanky, Olivier Moranne, Mathilde Nizon, Benjamin Savenkoff, Patrick Nitschké, Corinne Antignac, Guillaume Dorval
• Therapeutic splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of X-linked Alport syndrome. bioRxiv 2025.

  Hassan Saei, Bruno Estebe, Nicolas Gaudin, Mahsa Esmailpour, Julie Haure, Olivier Gribouval, Christelle Arrondel, Vincent Moriniere, Pinyuan Tian, Rachel Lennon, Corinne Antignac, Geraldine Mollet, Guillaume Dorval
• Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene. Journal of the American Society of Nephrology 2024.

  Hassan Saei, Cécile Masson, Vincent Morinière, Jessica Kachmar, Laurence Heidet, Olivier Gribouval, Corinne Antignac, Guillaume Dorval
• A wave of deep intronic mutations in X-linked Alport syndrome. Kidney International 2023.

  Marie Boisson, Christelle Arrondel, Nicolas Cagnard, Vincent Morinière, Zaïna Aït Arkoub, Hassan Saei, Laurence Heidet, Jessica Kachmar, Aurélie Hummel, Bertrand Knebelmann, Marie-Noëlle Bonnet-Dupeyron, Bertrand Isidor, Hassane Izzedine, Eric Legrand, Philippe Couarch, Olivier Gribouval, Christine Bole-Feysot, Mélanie Parisot, Patrick Nitschké, Corinne Antignac, Guillaume Dorval
• VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease. iScience 2023.

  Hassan Saei, Vincent Morinière, Laurence Heidet, Olivier Gribouval, Said Lebbah, Frederic Tores, Manon Mautret-Godefroy, Bertrand Knebelmann, Stéphane Burtey, Vincent Vuiblet, Corinne Antignac, Patrick Nitschké, Guillaume Dorval
• Comprehensive transcriptome mining identified the gene expression signature and differentially regulated pathways of the late-onset preeclampsia. Pregnancy Hypertension 2021.

  Hassan Saei, Ali Govahi, Ameneh Abiri, Maryam Eghbali, Maryam Abiri
• Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome. Frontiers in Genetics 2021.

  Maryam Eghbali, Kiyana Sadat Fatemi, Shadab Salehpour, Maryam Abiri, Hassan Saei, Saeed Talebi, Nasrin Alipour Olyaei, Vahid Reza Yassaee, Mohammad Hossein Modarressi
• Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations. Metabolic Brain Disease 2019.

  Maryam Abiri, Hassan Saei, Maryam Eghbali, Razieh Karamzadeh, Tina Shirzadeh, Zohreh Sharifi, Sirous Zeinali

• hassan.saeiahan@gmail.com
• Office 516-B1, Inserm UMR 1163, Institut Imagine, 24 boulevard de Montparnasse, 75015 Paris, France