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Natacha Broucqsault

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers
2014 · Marie-Cécile Gaillard, Stéphane Roche, et al. · Neurology · 98
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Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy
2013 · Natacha Broucqsault, Julia Morere, et al. · Human Molecular Genetics · 65
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SMCHD1 is involved in de novo methylation of the DUX4 -encoding D4Z4 macrosatellite
2019 · Camille Dion, Stéphane Roche, et al. · Nucleic Acids Research · 63
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Genome wide SNP array identified multiple mechanisms of genetic changes in Waldenstrom macroglobulinemia
2013 · Stéphanie Poulain, Christophe Roumier, et al. · American Journal of Hematology · 48
Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells
2020 · Kilian Mazaleyrat, Cherif Badja, et al. · Cells · 47
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Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy
2019 · Karine Nguyen, Natacha Broucqsault, et al. · Journal of Medical Genetics · 38
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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism
2019 · Stéphane Roche, Camille Dion, et al. · Neurology Genetics · 33
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Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy
2019 · Marie-Cécile Gaillard, Natacha Broucqsault, et al. · Scientific Reports · 26
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High-Throughput Genomic Analysis in Waldenström's Macroglobulinemia
2011 · Stéphanie Poulain, Esteban Braggio, et al. · Clinical Lymphoma Myeloma & Leukemia · 26
Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres
2021 · Camille Laberthonnière, Elva‐Maria Novoa‐del‐Toro, et al. · Journal of Cachexia Sarcopenia and Muscle · 23
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Acacetin and Chrysin, Two Polyphenolic Compounds, Alleviate Telomeric Position Effect in Human Cells
2013 · Amina Boussouar, Caroline Barette, et al. · Molecular Therapy — Nucleic Acids · 21
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AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome
2021 · Camille Laberthonnière, Elva Maria Novoa-del-Toro, et al. · Biomedicines · 9
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Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome
2024 · Julien Van Gils, Slim Karkar, et al. · Communications Biology · 7
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Mesenchymal stem cells derived from patients with premature aging syndromes display hallmarks of physiological aging
2022 · Jean Philippe Trani, Raphaël Chevalier, et al. · Life Science Alliance · 7
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Production of Innervated Skeletal Muscle Fibers Using Human Induced Pluripotent Stem Cells
2020 · Mégane Delourme, Natacha Broucqsault, et al. · Methods in molecular biology · 7
BACH2 promotes indolent clinical presentation in Waldenström macroglobulinemia
2016 · Charles Herbaux, Elisabeth Bertrand, et al. · Oncotarget · 5
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Restoring the interplay between the endoplasmic reticulum and mitochondria by gene therapy improves Charcot–Marie–Tooth type 2A disease
2026 · Marine Tessier, Zeinab Hamze, et al. · Proceedings of the National Academy of Sciences · 1
Epigenetic Factors in Normal and Pathological Neuronal Development
2014 · Natacha Broucqsault, Cherif Badja, et al. · Neuromethods · 1
A20 Gene Deregulation In Waldenstrom's Macroglobulinemia.
2010 · Stephanie Poulain, Rachid Aijjou, et al. · Blood · 1
Generation of the iPSC line CRNLi001-A from a patient with microcephaly and harbouring the most recurrent RTTN variant, c.2953A>G, at homozygous state
2026 · Justine Guguin, Alicia Besson, et al. · Stem Cell Research
Oncogenic MAPK pathway activation induces a congenital and progressively lethal rare neuropathy in mice
2026 · Marechal, Elise, Aldea, Daniel, et al. · HAL (Le Centre pour la Communication Scientifique Directe)
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L’apport du peignage moléculaire pour révéler la variabilité génétique et la complexité du diagnostic moléculaire dans la dystrophie Facio-Scapulo Humérale.
2018 · Nguyen, Karine, Puppo, Francesca, et al. · HAL (Le Centre pour la Communication Scientifique Directe)
Régulation épigénétique du locus subtélomérique 4q35 et contribution du macrosatellite D4Z4 dans la dystrophie facio-scapulo-humérale
2013 · Natacha Broucqsault
P.16.6 Modification of 4q35 and muscular gene expression in fetuses carrying a shortened D4Z4 array linked to FSHD
2013 · N. Broucqsault, S. Roche, et al. · Neuromuscular Disorders
B-Cell-Specific Transcription Factor BACH2 Involved in the Clinical Behavior Heterogeneity of Waldenstrom Macroglobulinemia
2012 · Charles Herbaux, Guillemette Marot, et al. · Blood
Works count: 29
Citation count: 526
H-index: 11
I10-index: 11
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