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ArticlesPeer ReviewedFull Text
Adult T-cell acute lymphoblastic leukemias with IL7R pathway mutations are slow-responders who do not benefit from allogeneic stem-cell transplantation
Author / Creator:Kim, Rathana ; Boissel, Nicolas ; Touzart, Aurore ; Leguay, Thibaut ; Thonier, Florian ; Thomas, Xavier ; Raffoux, Emmanuel ; Huguet, Françoise ; Villarese, Patrick ; Fourrage, Cécile ; Passini, Loïc ; Hunault, Mathilde ; Lepretre, Stéphane ; Chevallier, Patrice ; Braun, Thorsten ; Lhéritier, Véronique ; Chantepie, Sylvain ; Maury, Sébastien ; Escoffre, Martine ; Tavernier, Emmanuelle ; Chalandon, Yves ; Graux, Carlos ; Macintyre, Elizabeth ; Ifrah, Norbert ; Asnafi, Vahid ; Dombret, Hervé ; Lhermitte, Ludovic
Publisher:London: Nature Publishing Group UK
Journal title:Leukemia, 2020-07, Vol.34 (7), p.1730-1740
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ArticlesPeer ReviewedFull Text
The genome of the jellyfish Clytia hemisphaerica and the evolution of the cnidarian life-cycle
Author / Creator:Leclère, Lucas ; Horin, Coralie ; Chevalier, Sandra ; Lapébie, Pascal ; Dru, Philippe ; Peron, Sophie ; Jager, Muriel ; Condamine, Thomas ; Pottin, Karen ; Romano, Séverine ; Steger, Julia ; Sinigaglia, Chiara ; Barreau, Carine ; Quiroga Artigas, Gonzalo ; Ruggiero, Antonella ; Fourrage, Cécile ; Kraus, Johanna E. M. ; Poulain, Julie ; Aury, Jean-Marc ; Wincker, Patrick ; Quéinnec, Eric ; Technau, Ulrich ; Manuel, Michaël ; Momose, Tsuyoshi ; Houliston, Evelyn ; Copley, Richard R.
Publisher:London: Nature Publishing Group UK
Journal title:Nature ecology & evolution, 2019-05, Vol.3 (5), p.801-810
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ArticlesPeer ReviewedFull Text
COG6‐related prenatal phenotype (CDG2L): Clinico‐pathological report and review of the literature
Author / Creator:Guterman, Sarah ; Feresin, Agnese ; Boutaud, Lucile ; Jacquin, Clémence ; Lyonnet, Stanislas ; Bernard, Jean‐Pierre ; Colmant, Claire ; Roth, Philippe ; Bourgon, Nicolas ; Mace, Pierre ; Thoreau, Alice ; Ville, Yves ; Bengoa, Joana ; Ait Arkoub, Zaina ; Fourrage, Cécile ; Encha‐Razavi, Ferechté ; Bessières, Bettina ; Attié‐Bitach, Tania
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2025-04, Vol.13 (4), p.e2442-n/a
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ArticlesPeer ReviewedFull Text
Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
Author / Creator:Cogan, Guillaume ; Bourgon, Nicolas ; Borghese, Roxana ; Julien, Emmanuel ; Jaquette, Aurélia ; Stos, Bertrand ; Achaiaa, Amale ; Chuon, Sophie ; Nitschke, Patrick ; Fourrage, Cécile ; Stirnemann, Julien ; Boutaud, Lucile ; Attie‐Bitach, Tania
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2023-09, Vol.11 (9), p.e2219-n/a
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ArticlesPeer ReviewedFull Text
A Highly Conserved Poc1 Protein Characterized in Embryos of the Hydrozoan Clytia hemisphaerica: Localization and Functional Studies
Author / Creator:Fourrage, Cécile ; Chevalier, Sandra ; Houliston, Evelyn
Publisher:United States: Public Library of Science
Journal title:PloS one, 2010-11, Vol.5 (11), p.e13994-e13994
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ArticlesPeer ReviewedFull Text
No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells
Author / Creator:Steffann, Julie ; Pouliet, Aurore ; Adjal, Houda ; Bole, Christine ; Fourrage, Cécile ; Martinovic, Jelena ; Rolland-Galmiche, Louise ; Rotig, Agnes ; Tores, Frédéric ; Munnich, Arnold ; Bonnefont, Jean-Paul
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2017-05, Vol.54 (5), p.324-329
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ArticlesPeer ReviewedFull Text
Recurrent KIF2A mutations are responsible for classic lissencephaly
Author / Creator:Cavallin, Mara ; Bijlsma, Emilia K. ; El Morjani, Adrienne ; Moutton, Sébastien ; Peeters, Els A. J. ; Maillard, Camille ; Pedespan, Jean Michel ; Guerrot, Anne-Marie ; Drouin-Garaud, Valérie ; Coubes, Christine ; Genevieve, David ; Bole-Feysot, Christine ; Fourrage, Cecile ; Steffann, Julie ; Bahi-Buisson, Nadia
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2017-04, Vol.18 (2), p.73-79
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ArticlesPeer ReviewedFull Text
Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort
Author / Creator:Perrault, Isabelle ; Hanein, Sylvain ; Gérard, Xavier ; Mounguengue, Nelson ; Bouyakoub, Ryme ; Zarhrate, Mohammed ; Fourrage, Cécile ; Jabot-Hanin, Fabienne ; Bocquet, Béatrice ; Meunier, Isabelle ; Zanlonghi, Xavier ; Kaplan, Josseline ; Rozet, Jean-Michel
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-02, Vol.12 (2), p.287
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ArticlesPeer ReviewedFull Text
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies
Author / Creator:Barcia, Giulia ; Chemaly, Nicole ; Gobin‐Limballe, Stéphanie ; Losito, Emma ; Aubart, Mélodie ; Sarda, Eugénie ; Assouline, Zahra ; Plante‐Bordeneuve, Pauline ; Hully, Marie ; Barrois, Remi ; Barnerias, Christine ; Sareidaki, Doxa ; Zeitoun, Delphine Coste ; Eisermann, Monika ; Fourrage, Cécile ; Hanein, Sylvain ; Rio, Marlène ; Boddaert, Nathalie ; Desguerre, Isabelle ; Kaminska, Anna ; Steffann, Julie ; Nabbout, Rima
Publisher:United States
Journal title:Epilepsia open, 2025-05
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ArticlesFull Text
The genome of the jellyfish Clytia hemisphaerica and the evolution of the cnidarian life-cycle
Author / Creator:Lucas Lecl re ; Horin, Coralie ; Chevalier, Sandra ; Pascal Lap bie ; Philippe Dru ; Peron, Sophie ; Jager, Muriel ; Condamine, Thomas ; Pottin, Karen ; S verine Romano ; Steger, Julia ; Sinigaglia, Chiara ; Barreau, Carine ; Quiroga-Artigas, Gonzalo ; Ruggiero, Antonella ; C cile Fourrage ; Kraus, Johanna ; Poulain, Julie ; Jean-Marc Aury ; Wincker, Patrick ; Eric Qu innec ; Technau, Ulrich ; Micha l Manuel ; Momose, Tsuyoshi ; Houliston, Evelyn ; Copley, Richard
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2018-07
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Adult T-cell acute lymphoblastic leukemias with IL7R pathway mutations are slow-responders who do not benefit from allogeneic stem-cell transplantation

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The genome of the jellyfish Clytia hemisphaerica and the evolution of the cnidarian life-cycle

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COG6‐related prenatal phenotype (CDG2L): Clinico‐pathological report and review of the literature

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Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs

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A Highly Conserved Poc1 Protein Characterized in Embryos of the Hydrozoan Clytia hemisphaerica: Localization and Functional Studies

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No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells

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Recurrent KIF2A mutations are responsible for classic lissencephaly

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Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort

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Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies

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The genome of the jellyfish Clytia hemisphaerica and the evolution of the cnidarian life-cycle

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