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Non‐invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience.
Published in:
BJOG: An International Journal of Obstetrics & Gynaecology, 2022, v. 129, n. 11, p. 1879, doi. 10.1111/1471-0528.17201
By:
- Pacault, Mathilde;
- Verebi, Camille;
- Lopez, Maureen;
- Vaucouleur, Nicolas;
- Orhant, Lucie;
- Deburgrave, Nathalie;
- Leturcq, France;
- Vidaud, Dominique;
- Girodon, Emmanuelle;
- Bienvenu, Thierry;
- Nectoux, Juliette
Publication type:
Article
Molecular Characterization of a Rare Case of Monozygotic Dichorionic Diamniotic Twin Pregnancy after Single Blastocyst Transfer in Preimplantation Genetic Testing (PGT).
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810835
By:
- Brouillet, Sophie;
- Mereuze, Sandie;
- Ranisavljevic, Noémie;
- Chauveau, Claire;
- Hamamah, Samir;
- Cattin, Julie;
- Verebi, Camille;
- Cabrol, Christelle;
- Ishmukhametova, Aliya;
- Girardet, Anne;
- Anahory, Tal;
- Willems, Marjolaine
Publication type:
Article
Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation.
Published in:
PLoS ONE, 2023, v. 17, n. 4, p. 1, doi. 10.1371/journal.pone.0280976
By:
- Pacault, Mathilde;
- Verebi, Camille;
- Champion, Magali;
- Orhant, Lucie;
- Perrier, Alexandre;
- Girodon, Emmanuelle;
- Leturcq, France;
- Vidaud, Dominique;
- Férec, Claude;
- Bienvenu, Thierry;
- Daveau, Romain;
- Nectoux, Juliette
Publication type:
Article
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63479
By:
- Quilichini, Juliette;
- Perol, Sandrine;
- Cuisset, Laurence;
- Grotto, Sarah;
- Fouveaut, Corinne;
- Barbot, Jean Claude;
- Verebi, Camille;
- Jordan, Pénélope;
- Héron, Delphine;
- Molina‐Gomes, Denise;
- Pipiras, Eva;
- Grynberg, Michael;
- Catteau‐Jonard, Sophie;
- Touraine, Philippe;
- Christin‐Maître, Sophie;
- Plu‐Bureau, Geneviève;
- El Khattabi, Laila;
- Bienvenu, Thierry
Publication type:
Article
Intérêt du dosage des chaînes légères libres dans le cadre de gammapathies monoclonales, autres hémopathies malignes et maladies auto-immunes.
Published in:
Annales de Biologie Clinique, 2019, v. 77, n. 4, p. 397, doi. 10.1684/abc.2019.1452
By:
- Verebi, Camille;
- Talbot, Alexis;
- Gendron, Nicolas;
- Hurtado-Nedelec, Margarita
Publication type:
Article
Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 649, doi. 10.3233/JND-220823
By:
- Pinto, Maria João;
- Fromes, Yves;
- Ackermann-Bonan, Isabelle;
- Leturcq, France;
- Verebi, Camille;
- Romero, Norma B.;
- Stojkovic, Tanya
Publication type:
Article
Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 102, doi. 10.1111/cge.14526
By:
- Jordan, Pénélope;
- Verebi, Camille;
- Hervé, Bérénice;
- Perol, Sandrine;
- Chakhtoura, Zeina;
- Courtillot, Carine;
- Bachelot, Anne;
- Karila, Daphné;
- Renard, Céline;
- Grouthier, Virginie;
- de la Croix, Stanislas Mulot;
- Bernard, Valérie;
- Fouveaut, Corinne;
- de la Perrière, Aude Brac;
- Jonard‐Catteau, Sophie;
- Touraine, Philippe;
- Plu‐Bureau, Geneviève;
- Dupont, Jean Michel;
- Christin‐Maitre, Sophie;
- Bienvenu, Thierry
Publication type:
Article
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.
Published in:
Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00451-1
By:
- de Sainte Agathe, Jean-Madeleine;
- Filser, Mathilde;
- Isidor, Bertrand;
- Besnard, Thomas;
- Gueguen, Paul;
- Perrin, Aurélien;
- Van Goethem, Charles;
- Verebi, Camille;
- Masingue, Marion;
- Rendu, John;
- Cossée, Mireille;
- Bergougnoux, Anne;
- Frobert, Laurent;
- Buratti, Julien;
- Lejeune, Élodie;
- Le Guern, Éric;
- Pasquier, Florence;
- Clot, Fabienne;
- Kalatzis, Vasiliki;
- Roux, Anne-Françoise
Publication type:
Article
Caveolinopathy: Clinical, histological, and muscle imaging features and follow‐up in a multicenter retrospective cohort.
Published in:
European Journal of Neurology, 2023, v. 30, n. 8, p. 2506, doi. 10.1111/ene.15832
By:
- Berling, Edouard;
- Verebi, Camille;
- Venturelli, Nadia;
- Vassilopoulos, Stéphane;
- Béhin, Anthony;
- Tard, Céline;
- Michaud, Maud;
- Quiles, Rocio Nur Villar;
- Vicart, Savine;
- Masingue, Marion;
- Carlier, Robert‐Yves;
- Romero, Norma Beatriz;
- Lacene, Emmanuelle;
- Leturcq, France;
- Eymard, Bruno;
- Laforêt, Pascal;
- Stojkovic, Tanya
Publication type:
Article
NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.
Published in:
Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 1, p. 135, doi. 10.1007/s10815-023-02981-y
By:
- Jordan, Pénélope;
- Verebi, Camille;
- Perol, Sandrine;
- Grotto, Sarah;
- Fouveaut, Corinne;
- Christin-Maitre, Sophie;
- de la Perrière, Aude Brac;
- Grouthier, Virginie;
- Jonard-Catteau, Sophie;
- Touraine, Philippe;
- PLU-Bureau, Geneviève;
- Dupont, Jean Michel;
- El Khattabi, Laila;
- Bienvenu, Thierry
Publication type:
Article
Intérêt du dosage des chaînes légères libres dans le cadre de gammapathies monoclonales et d'autres hémopathies malignes et maladies auto-immunes.
Published in:
Hematologie, 2020, v. 26, n. 1, p. 36, doi. 10.1684/hma.2019.1494
By:
- Verebi, Camille;
- Talbot, Alexis;
- Gendron, Nicolas;
- Hurtado-Nedelec, Margarita
Publication type:
Article

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