Publications by authors named "Isabelle Roux"

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ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Kezang C Tshering, Marina T DiStefano, Andrea M Oza, Pamela Ajuyah, Ryan Webb, Isabelle Roux

Genet Med· October 2025

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ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Kezang C Tshering, Marina T DiStefano, Andrea M Oza, Pamela Ajuyah, Ryan Webb, Isabelle Roux

Genet Med· May 2025

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Could cleaved embryo morphology and morphokinetics be associated with prenatal and neonatal outcomes?
Lucie Rey, Julie Barberet, Lysiane Jonval, Cécile Adam, Magali Guilleman, Isabelle Roux

J Assist Reprod Genet· January 2025

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SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma membrane abundance in the endolymphatic sac.
Hyun Jae Lee, Cristina Fenollar-Ferrer, Kevin Isgrig, Ya-Xian Wang, Kerstin Valente, Isabelle Roux

Sci Adv· October 2024

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Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.
Risa Tona, Sayaka Inagaki, Yasuko Ishibashi, Rabia Faridi, Rizwan Yousaf, Isabelle Roux

J Biol Chem· September 2024

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Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy.
Théo Ribierre, Alexandre Bacq, Florian Donneger, Marion Doladilhe, Marina Maletic, Isabelle Le Roux

Nat Neurosci· June 2024

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Evaluating agreement between evidence from randomised controlled trials and cohort studies in nutrition: a meta-research replication study.
Julia Stadelmaier, Jessica Beyerbach, Isabelle Roux, Louisa Harms, Julian Eble

Eur J Epidemiol· April 2024

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Transgenic Tg(Kcnj10-ZsGreen) fluorescent reporter mice allow visualization of intermediate cells in the stria vascularis.
Dillon Strepay, Rafal T Olszewski, Sydney Nixon, Soumya Korrapati, Samuel Adadey, Isabelle Roux

Sci Rep· February 2024

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CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.
Isabelle Roux, Cristina Fenollar-Ferrer, Hyun Jae Lee, Parna Chattaraj, Ivan A Lopez

Hum Genet· October 2023

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Hippocampal and neocortical BRAF mutant non-expansive lesions in focal epilepsies.
Julie Lerond, Bertrand Mathon, Mélina Scopin, Lucia Nichelli, Justine Guégan, Isabelle Le Roux

Neuropathol Appl Neurobiol· October 2023

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Transgenic Tg(Kcnj10-ZsGreen) Fluorescent Reporter Mice Allow Visualization of Intermediate Cells in the Stria Vascularis.
Dillon Strepay, Rafal T Olszewski, Sydney Nixon, Soumya Korrapati, Samuel Adadey, Isabelle Roux

Res Sq· October 2023

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Effects of Dairy Intake on Markers of Cardiometabolic Health in Adults: A Systematic Review with Network Meta-Analysis.
Eva Kiesswetter, Julia Stadelmaier, Maria Petropoulou, Jakub Morze, Kathrin Grummich, Isabelle Roux

Adv Nutr· May 2023

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Cellular senescence in malignant cells promotes tumor progression in mouse and patient Glioblastoma.
Rana Salam, Alexa Saliou, Franck Bielle, Mathilde Bertrand, Christophe Antoniewski, Isabelle Le Roux

Nat Commun· January 2023

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Empirical evidence of study design biases in nutrition randomised controlled trials: a meta-epidemiological study.
Julia Stadelmaier, Isabelle Roux, Maria Petropoulou, Lukas Schwingshackl

BMC Med· October 2022

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AAV8BP2 and AAV8 transduce the mammalian cochlear lateral wall and endolymphatic sac with high efficiency.
Kevin Isgrig, Yasuko Ishibashi, Hyun Jae Lee, Jianliang Zhu, Mhamed Grati, Isabelle Roux

Mol Ther Methods Clin Dev· September 2022

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Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
Adebolajo Adeyemo, Rabia Faridi, Parna Chattaraj, Rizwan Yousaf, Risa Tona, Isabelle Roux

Eur J Hum Genet· January 2022

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Dissection of the Endolymphatic Sac from Mice.
Keiji Honda, Hyun Jae Lee, Andrew J Griffith, Isabelle Roux

J Vis Exp· March 2021

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Genetic Hearing Loss Associated With Autoinflammation.
Hiroshi Nakanishi, Pragya Prakash, Taku Ito, H Jeffrey Kim, Carmen C Brewer, Isabelle Roux

Front Neurol· March 2020

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Bedside mental status and outcome in elderly patients admitted for acute coronary syndromes.
Clément Briet, Katrien Blanchart, Adrien Lemaître, Isabelle Roux, Kelly Lavergne

Heart· November 2019

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A recurrent point mutation in PRKCA is a hallmark of chordoid gliomas.
Shai Rosenberg, Iva Simeonova, Franck Bielle, Maite Verreault, Bertille Bance, Isabelle Le Roux

Nat Commun· June 2018

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A common -linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.
Parna Chattaraj, Tina Munjal, Keiji Honda, Nanna D Rendtorff, Jessica S Ratay, Isabelle Roux

J Med Genet· October 2017

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Diagnostic value of ST-segment deviations during cardiac exercise stress testing: Systematic comparison of different ECG leads and time-points.
Christian Puelacher, Max Wagener, Roger Abächerli, Ursina Honegger, Nundsin Lhasam, Isabelle Roux

Int J Cardiol· July 2017

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RgIA4 Potently Blocks Mouse α9α10 nAChRs and Provides Long Lasting Protection against Oxaliplatin-Induced Cold Allodynia.
Sean B Christensen, Arik J Hone, Isabelle Roux, Julie Kniazeff, Jean-Philippe Pin

Front Cell Neurosci· July 2017

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Diagnostic and prognostic values of the V-index, a novel ECG marker quantifying spatial heterogeneity of ventricular repolarization, in patients with symptoms suggestive of non-ST-elevation myocardial infarction.
Roger Abächerli, Raphael Twerenbold, Jasper Boeddinghaus, Thomas Nestelberger, Patrick Mächler, Isabelle Roux

Int J Cardiol· June 2017

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Injury-Induced Senescence Enables In Vivo Reprogramming in Skeletal Muscle.
Aurélie Chiche, Isabelle Le Roux, Mathieu von Joest, Hiroshi Sakai, Sabela Búa Aguín

Cell Stem Cell· March 2017

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