Vincent Morinière - Ctr Reference Malad Renales Hereditaires Enfant &, AP HP

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论文共 53 篇作者统计合作学者相似作者

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#2606 Clinically Boosted Exome-Sequencing is Necessary for Accurate and Highly Sensitive Genetic Diagnosis of ADTKD-MUC1

Hassan Saei,Vincent Morinière,Laurence Heidet,Bertrand Knebelmann,Patrick Nitschke,Corinne Antignac,Guillaume Dorval

Nephrology Dialysis Transplantationno. Supplement_1 (2024)

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Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene

Hassan Saei,Cécile Masson,Vincent Morinière,Jessica Kachmar, Laurence Heidet,Olivier Gribouval,Corinne Antignac,Guillaume Dorval

Journal of the American Society of Nephrology JASN (2024)

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Clinically Boosted Exome-Sequencing is Necessary for Accurate and Highly Sensitive Genetic Diagnosis of ADTKD-MUC1

Hassan Saei,Vincent Moriniere,Laurence Heidet,Bertrand Knebelmann,Patrick Nitschke,Corinne Antignac,Guillaume Dorval

NEPHROLOGY DIALYSIS TRANSPLANTATION (2024)

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P135: X-linked Alport Syndrome: from Transcriptomic Diagnosis to Preclinical Assessment of Splice-Switching Oligonucleotide Therapy Using Patient-Derived Cells and Kidney Organoids*

Hassan Saei,Marie Boisson,Christelle Arrondel, Bruno Estebe,Nicolas Cagnard,Marc Bras,Vincent Morinière, Zaïna Aït Arkoub,Laurence Heidet,Olivier Gribouval,Patrick Nitschké,Corinne Antignac,Géraldine Mollet,Guillaume Dorval

Genetics in Medicine Open (2024): 101032

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#382 Unexpected Diagnoses of ADTKD-MUC1 with the Help of VNtyper

Jessica Kachmar,Hassan Saei,Vincent Morinière,Laurence Heidet,Olivier Gribouval,Manon Mautret-Godefroy,Bertrand Knebelmann,Stéphane Burtey,Vincent Vuiblet,Patrick Nitschké,Corinne Antignac,Guillaume Dorval

Nephrology Dialysis Transplantationno. Supplement_1 (2024)

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Targeted RNAseq from Patients’ Urinary Cells to Validate Pathogenic Non Coding Variants in Autosomal Dominant Polycystic Kidney Disease Genes: a Proof of Concept

Guillaume Dorval,Gérald Le Gac,Vincent Morinière,Chandran Ka,Claire Goursaud,Bertrand Knebelmann, Pierre Marijon,Sophie Nambot,Nicolas Cagnard,Patrick Nitschké,Laurence Michel-Calemard,Marie-Pierre Audrézet,Laurence Heidet

Kidney international (2024)

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P168: MUC1 Gene Coding-Vntr Alignment-Free Genotyping Approach Augmented ADTKD Diagnosis in a Cohort of 3735 Patients with Hereditary Kidney Diseases

Hassan Saei,Jessica Kachmar,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

Genetics in Medicine Open (2024): 101065

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Unexpected Diagnoses of ADTKD-MUC1 with the Help of VNtyper

Jessica Kachmar,Hassan Saei,Vincent Moriniere,Laurence Heidet,Olivier Gribouval,Manon Mautret-Godefroy,Bertrand Knebelmann,Stephane Burtey,Vincent Vuiblet,Patrick Nitschke,Corinne Antignac,Guillaume Dorval

NEPHROLOGY DIALYSIS TRANSPLANTATION (2024)

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DEEP INTRONIC VARIANTS IN X-LINKED ALPORT SYNDROME: FROM DETECTION TO THERAPEUTIC HOPES

Jessica Kachmar,Hassan Saei,Marie Boisson,Christelle Arrondel,Nicolas Cagnard,Vincent Moriniere, Zaina Ait Arkoub,Laurence Heidet,Aurelie Hummel,Bertrand Knebelmann,Olivier Gribouval,Christine Bole-Feysot,Patrick Nitschke,Corinne Antignac,Guillaume Dorval

PEDIATRIC NEPHROLOGY (2023): S52-S52

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A Wave of Deep Intronic Mutations in X-linked Alport Syndrome

Marie Boisson,Christelle Arrondel,Nicolas Cagnard,Vincent Moriniere, Zaina Ait Arkoub,Hassan Saei,Laurence Heidet,Jessica Kachmar,Aurelie Hummel,Bertrand Knebelmann,Marie-Noelle Bonnet-Dupeyron,Bertrand Isidor, Hassane Izzedine,Eric Legrand, Philippe Couarch,Olivier Gribouval,Christine Bole-Feysot,Melanie Parisot,Patrick Nitschke,Corinne Antignac,Guillaume Dorval

KIDNEY INTERNATIONALno. 2 (2023): 367-377

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