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Juliette Nectoux

Observed names: J Nectoux, J. Nectoux, J.U.L. Nectoux, Juliette Nectoux Pharm, NECTOUX, Juliette, Nectoux Juliette, Nectoux, Juliette, Pharm, Juliette Nectoux
Observed institutions: University of Copenhagen, Hôpital Necker-Enfants Malades, Centre National de la Recherche Scientifique, National Institutes of Health, Inserm, Université Paris-Est Créteil, Université Paris Cité, Rigshospitalet, Centre Hospitalier Universitaire de Bordeaux, Centre Hospitalier Universitaire Henri-Mondor, Sorbonne Université, Hôpital Femme Mère Enfant, Sorbonne Paris Cité, Hôpital Cochin, Assistance Publique – Hôpitaux de Paris, Hospices Civils de Lyon, Hôpital Broca, Laboratoire de Biochimie, Institut de Myologie, Pitié-Salpêtrière Hospital, Groupe Hospitalier Cochin - Port-Royal, Hôtel-Dieu, Broca - La Collégiale, Tampere University Hospital, Hôpital Robert-Debré, Genethon (France), Hôpitaux Universitaires Henri-Mondor, Centre Hospitalier Régional Universitaire de Brest, Hôtel-Dieu de Paris, Institut Cochin, University of Tampere, Université Paris Descartes, Centre de Recherche en Myologie
ORCID: 0000-0001-5584-1112
Observed ORCID: 0000-0001-5584-1112
OpenAlex ID: A5073701872
Key clinical features to identify girls with CDKL5 mutations
2008 · Nadia Bahi-Buisson, Juliette Nectoux, et al. · Brain · 284
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome
2009 · M A Mencarelli, A Spanhol-Rosseto, et al. · Journal of Medical Genetics · 111
Update on fluoroquinolone resistance in Helicobacter pylori: new mutations leading to resistance and first description of a gyrA polymorphism associated with hypersusceptibility
2007 · Vincent Cattoir, Juliette Nectoux, et al. · International Journal of Antimicrobial Agents · 110
A quantitative gene expression study suggests a role for angiopoietins in focal nodular hyperplasia
2003 · Valérie Paradis, Ivan Bièche, et al. · Gastroenterology · 107
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Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
2016 · Gina L. O’Grady, Heather A. Best, et al. · The American Journal of Human Genetics · 98
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Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant
2009 · Nadia Bahi-Buisson, Juliette Nectoux, et al. · Neurogenetics · 86
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis
2018 · Camille Louvrier, Eric Pasmant, et al. · Neuro-Oncology · 69
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Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes
2015 · Chloé Delépine, Hamid Meziane, et al. · Human Molecular Genetics · 63
Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia
2016 · Lucie Orhant, Olivia Anselem, et al. · Prenatal Diagnosis · 60
PFMG2025–integrating genomic medicine into the national healthcare system in France
2025 · Caroline Abadie, Aldja Abderrahmane, et al. · The Lancet Regional Health - Europe · 57
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A new titinopathy
2015 · Rafael De Cid, Rabah Ben Yaou, et al. · Neurology · 57
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy
2007 · H Rosas-Vargas, N Bahi-Buisson, et al. · Journal of Medical Genetics · 57
Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells
2023 · Nastasia Cardone, Valentina Taglietti, et al. · Acta Neuropathologica Communications · 52
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Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study
2016 · Laïla Allach El Khattabi, Christelle Rouillac-Le Sciellour, et al. · PLoS ONE · 49
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The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome
2008 · J. Nectoux, N. Bahi-Buisson, et al. · Neurology · 48
A FOXG1 mutation in a boy with congenital variant of Rett syndrome
2010 · Tangui Le Guen, Nadia Bahi-Buisson, et al. · Neurogenetics · 47
Hyperckemia and myalgia are common presentations of anoctamin‐5‐related myopathy in French patients
2017 · Constantinos Papadopoulos, Pascal LaforÊt, et al. · Muscle & Nerve · 42
Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR
2018 · Aurélia Gruber, Mathilde Pacault, et al. · Clinical Chemistry and Laboratory Medicine (CCLM) · 41
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
2015 · Julia Lauer Zillhardt, Karine Poirier, et al. · European Journal of Human Genetics · 40
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
2018 · Martin Krahn, Valérie Biancalana, et al. · European Journal of Human Genetics · 38
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The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform
2008 · Yann Fichou, Juliette Nectoux, et al. · Neurogenetics · 38
Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells
2015 · Emmanuelle Massouridès, Jérôme Polentes, et al. · Skeletal Muscle · 37
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Astrocyte Transcriptome from the Mecp2308-Truncated Mouse Model of Rett Syndrome
2015 · Chloé Delépine, Juliette Nectoux, et al. · NeuroMolecular Medicine · 37
Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders
2010 · Rose White, Gladys Ho, et al. · Twin Research and Human Genetics · 37
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Maternal origin of a novel C‐terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome
2006 · J Nectoux, D Heron, et al. · Clinical Genetics · 37
Works count: 158
Citation count: 2,399
H-index: 30
I10-index: 53
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