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Alinoë Lavillaureix

Observed names: A Lavillaureix, A. Lavillaureix, Alinoe Lavillaureix, Alinoé Lavillaureix, Lavillaureix, A., Lavillaureix, Alinoe, Lavillaureix, Alinoë
Observed institutions: Centre National de la Recherche Scientifique, Inserm, Université de Bourgogne, University of California, San Francisco, Baylor College of Medicine, Hôpital Armand-Trousseau, Sorbonne Paris Cité, Assistance Publique – Hôpitaux de Paris, CHU Dijon Bourgogne, Pitié-Salpêtrière Hospital, Hôpital Pontchaillou, Institut de génétique et de développement de Rennes, Centre Hospitalier Universitaire de Rennes, Baylor Genetics, ERN ITHACA, Université Paris Descartes, Université de Rennes
ORCID: 0000-0002-3727-9530
Observed ORCID: 0000-0002-3727-9530
OpenAlex ID: A5009135155
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients
2017 · E. Chérot, B. Keren, et al. · Clinical Genetics · 113
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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
2019 · Anne H. O’Donnell-Luria, Lynn S. Pais, et al. · The American Journal of Human Genetics · 91
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Pleiotropic Mechanisms Indicated for Sex Differences in Autism
2016 · Ileena Mitra, Kathryn Tsang, et al. · PLoS Genetics · 78
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Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature
2015 · Solveig Heide, Alexandra Afenjar, et al. · European Journal of Medical Genetics · 58
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
2021 · J. den Hoed, E. de Boer, et al. · The American Journal of Human Genetics · 48
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Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders
2017 · Ileena Mitra, Alinoë Lavillaureix, et al. · PLoS Genetics · 46
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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
2023 · Thomas Husson, François Lecoquierre, et al. · European Journal of Human Genetics · 32
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Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D
2021 · Arnaud Molin, Sandrine Lemoine, et al. · Frontiers in Endocrinology · 31
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Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
2023 · Frédéric Tran Mau-Them, Julian Delanne, et al. · Frontiers in Genetics · 27
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
2021 · Anne-Sophie Denommé-Pichon, Antonio Vitobello, et al. · European Journal of Human Genetics · 26
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Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases
2022 · Laura Mary, Alinoë Lavillaureix, et al. · European Journal of Medical Genetics · 16
Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly
2017 · A. Lavillaureix, S. Heide, et al. · Clinical Genetics · 15
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome
2023 · Fanny Mochel, Domitille Gras, et al. · Neurology · 14
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ATP7A mutation with occipital horns and distal motor neuropathy: A continuum
2020 · Melanie Fradin, Alinoe Lavillaureix, et al. · European Journal of Medical Genetics · 14
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Skraban‐Deardorff syndrome: Six new cases of WDR 26 ‐related disease and expansion of the clinical phenotype
2021 · Auriane Cospain, Elise Schaefer, et al. · Clinical Genetics · 13
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The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series
2025 · Sarah M. Brooker, Maria Novelli, et al. · Annals of Neurology · 12
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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
2021 · Claude Messiaen, Caroline Racine, et al. · Orphanet Journal of Rare Diseases · 12
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Mayer-Rokitansky-Küster-Hauser syndrome patients’ interest, expectations and demands concerning uterus transplantation
2023 · C. Sousa, I. Carton, et al. · Journal of Gynecology Obstetrics and Human Reproduction · 10
Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families
2023 · Monica H. Wojcik, Siddharth Srivastava, et al. · American Journal of Medical Genetics Part A · 9
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Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
2023 · AL Soilly, C Robert-Viard, et al. · BMC Health Services Research · 9
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Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility
2024 · Auriane Cospain, Ludivine Dion, et al. · Acta Obstetricia Et Gynecologica Scandinavica · 8
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Nuclear volume differences between balanced and unbalanced spermatozoa in chromosomal translocation carriers
2014 · Alexandre Rouen, Alinoë Lavillaureix, et al. · Reproductive BioMedicine Online · 7
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Genetic analyses using chromosomal microarray and exome sequencing in fetuses and women with Müllerian duct anomalies
2025 · Auriane Cospain, Paul Rollier, et al. · Journal of Assisted Reproduction and Genetics · 4
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
2025 · Salima El Chehadeh, Solveig Heide, et al. · Genome Medicine · 4
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Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing
2020 · Auriane Cospain, Christèle Dubourg, et al. · Molecular Genetics and Metabolism Reports · 3
Works count: 45
Citation count: 708
H-index: 14
I10-index: 18
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