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ArticlesPeer ReviewedFull Text
Reinforcement of STAT3 activity reprogrammes human embryonic stem cells to naive-like pluripotency
Author / Creator:Chen, Hongwei ; Aksoy, Irène ; Gonnot, Fabrice ; Osteil, Pierre ; Aubry, Maxime ; Hamela, Claire ; Rognard, Cloé ; Hochard, Arnaud ; Voisin, Sophie ; Fontaine, Emeline ; Mure, Magali ; Afanassieff, Marielle ; Cleroux, Elouan ; Guibert, Sylvain ; Chen, Jiaxuan ; Vallot, Céline ; Acloque, Hervé ; Genthon, Clémence ; Donnadieu, Cécile ; De Vos, John ; Sanlaville, Damien ; Guérin, Jean- François ; Weber, Michael ; Stanton, Lawrence W ; Rougeulle, Claire ; Pain, Bertrand ; Bourillot, Pierre-Yves ; Savatier, Pierre
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2015-05, Vol.6 (1), p.7095, Article 7095
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Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
Author / Creator:Schöpflin, Robert ; Melo, Uirá Souto ; Moeinzadeh, Hossein ; Heller, David ; Laupert, Verena ; Hertzberg, Jakob ; Holtgrewe, Manuel ; Alavi, Nico ; Klever, Marius-Konstantin ; Jungnitsch, Julius ; Comak, Emel ; Türkmen, Seval ; Horn, Denise ; Duffourd, Yannis ; Faivre, Laurence ; Callier, Patrick ; Sanlaville, Damien ; Zuffardi, Orsetta ; Tenconi, Romano ; Kurtas, Nehir Edibe ; Giglio, Sabrina ; Prager, Bettina ; Latos-Bielenska, Anna ; Vogel, Ida ; Bugge, Merete ; Tommerup, Niels ; Spielmann, Malte ; Vitobello, Antonio ; Kalscheuer, Vera M. ; Vingron, Martin ; Mundlos, Stefan
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2022-10, Vol.13 (1), p.6470-15, Article 6470
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Sex gap in aging and longevity: can sex chromosomes play a role?
Author / Creator:Marais, Gabriel A.B. ; Gaillard, Jean-Michel ; Vieira, Cristina ; Plotton, Ingrid ; Sanlaville, Damien ; Gueyffier, François ; Lemaitre, Jean-Francois
Publisher:England: BioMed Central Ltd
Journal title:Biology of sex differences, 2018-07, Vol.9 (1), p.33-14, Article 33
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Transposable element expression is associated with sex chromosome number in humans
Author / Creator:Teoli, Jordan ; Merenciano, Miriam ; Fablet, Marie ; Necsulea, Anamaria ; Siqueira-de-Oliveira, Daniel ; Brandulas-Cammarata, Alessandro ; Labalme, Audrey ; Lejeune, Hervé ; Lemaitre, Jean-François ; Gueyffier, François ; Sanlaville, Damien ; Bardel, Claire ; Vieira, Cristina ; Marais, Gabriel AB ; Plotton, Ingrid
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2025-06, Vol.21 (6), p.e1011668
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Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?
Author / Creator:Demily, Caroline ; Lesca, Gaétan ; Poisson, Alice ; Till, Marianne ; Barcia, Giulia ; Chatron, Nicolas ; Sanlaville, Damien ; Munnich, Arnold
Publisher:New York: Springer US
Journal title:Journal of autism and developmental disorders, 2018-08, Vol.48 (8), p.2886-2889
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Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review
Author / Creator:GAULD, Christophe ; POISSON, Alice ; REVERSAT, Julie ; PEYROUX, Elodie ; HOUDAYER-ROBERT, Françoise ; ROSSI, Massimiliano ; LESCA, Gaetan ; SANLAVILLE, Damien ; DEMILY, Caroline
Publisher:England: BioMed Central Ltd
Journal title:BMC psychiatry, 2021-07, Vol.21 (1), p.360-11, Article 360
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Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)
Author / Creator:Chassagne Aline ; Pélissier Aurore ; Houdayer Françoise ; Cretin Elodie ; Gautier Elodie ; Salvi, Dominique ; Kidri Sarah ; Godard Aurélie ; Thauvin-Robinet Christel ; Masurel Alice ; Lehalle Daphné ; Jean-Marçais Nolwenn ; Thevenon Julien ; Lesca Gaetan ; Putoux Audrey ; Cordier Marie-Pierre ; Dupuis-Girod, Sophie ; Till, Marianne ; Duffourd Yannis ; Rivière Jean-Baptiste ; Joly, Lorraine ; Juif Christine ; Putois Olivier ; Ancet Pierre ; Lapointe Anne-Sophie ; Morin, Paulette ; Edery, Patrick ; Rossi, Massimiliano ; Sanlaville Damien ; Béjean Sophie ; Peyron, Christine ; Faivre, Laurence
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-05, Vol.27 (5), p.701-710
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Behavioral disturbance and treatment strategies in Smith-Magenis syndrome
Author / Creator:Poisson, Alice ; Nicolas, Alain ; Cochat, Pierre ; Sanlaville, Damien ; Rigard, Caroline ; de Leersnyder, Hélène ; Franco, Patricia ; Portes, Vincent Des ; Edery, Patrick ; Demily, Caroline
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-09, Vol.10 (1), p.111, Article 111
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Chromosomal instability in the prediction of pituitary neuroendocrine tumors prognosis
Author / Creator:Lasolle, Hélène ; Elsensohn, Mad-Hélénie ; Wierinckx, Anne ; Alix, Eudeline ; Bonnefille, Clément ; Vasiljevic, Alexandre ; Cortet, Christine ; Decoudier, Bénédicte ; Sturm, Nathalie ; Gaillard, Stephan ; Ferrière, Amandine ; Roy, Pascal ; Jouanneau, Emmanuel ; Bertolino, Philippe ; Bardel, Claire ; Sanlaville, Damien ; Raverot, Gérald
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2020-11, Vol.8 (1), p.190-14, Article 190
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Distal Xq duplication and functional Xq disomy
Author / Creator:Sanlaville, Damien ; Schluth-Bolard, Caroline ; Turleau, Catherine
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2009-02, Vol.4 (1), p.4-4, Article 4
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X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant
Author / Creator:Bousquet Idriss ; Bozon Muriel ; Castellani Valérie ; Touraine Renaud ; Piton Amélie ; Gérard Bénédicte ; Guibaud Laurent ; Sanlaville Damien ; Edery, Patrick ; Saugier-Veber Pascale ; Putoux Audrey
Publisher:Heidelberg: Springer Nature B.V
Journal title:Neurogenetics, 2021-03, Vol.22 (1), p.43-51
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Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report
Author / Creator:Poisson, Alice ; Chatron, Nicolas ; Labalme, Audrey ; Fourneret, Pierre ; Ville, Dorothée ; Mathieu, Marie Laure ; Sanlaville, Damien ; Demily, Caroline ; Lesca, Gaëtan
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2020-01, Vol.21 (1), p.10-6, Article 10
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Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster
Author / Creator:Le Caignec Cédric ; Pichon Olivier ; Briand Annaig ; Benoît, de Courtivron ; Bonnard, Christian ; Lindenbaum, Pierre ; Redon, Richard ; Schluth-Bolard Caroline ; Diguet Flavie ; Pierre-Antoine, Rollat-Farnier ; Sanchez-Castro, Marta ; Vuillaume Marie-Laure ; Sanlaville Damien ; Duboule Denis ; Mégarbané André ; Toutain Annick
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-03, Vol.28 (3), p.324-332
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Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia
Author / Creator:Talarico, Mariagrazia ; Fortunato, Francesco ; Labalme, Audrey ; Januel, Louis ; Chatron, Nicolas ; Sanlaville, Damien ; Sammarra, Ilaria ; Gagliardi, Monica ; Procopio, Radha ; Valentino, Paola ; Annesi, Grazia ; Lesca, Gaetan ; Gambardella, Antonio
Publisher:United States: John Wiley & Sons, Inc
Journal title:Epilepsia open, 2024-06, Vol.9 (3), p.951-959
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Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder
Author / Creator:Masson, Julie ; Demily, Caroline ; Chatron, Nicolas ; Labalme, Audrey ; Rollat-Farnier, Pierre-Antoine ; Schluth-Bolard, Caroline ; Gilbert-Dussardier, Brigitte ; Giuliano, Fabienne ; Touraine, Renaud ; Tordjman, Sylvie ; Verloes, Alain ; Testa, Giuseppe ; Sanlaville, Damien ; Edery, Patrick ; Lesca, Gaetan ; Rossi, Massimiliano
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2019-05, Vol.14 (1), p.121-6, Article 121
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Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
Author / Creator:Mucha, Bettina E. ; Banka, Siddharth ; Ajeawung, Norbert Fonya ; Molidperee, Sirinart ; Chen, Gary G. ; Koenig, Mary Kay ; Adejumo, Rhamat B. ; Till, Marianne ; Harbord, Michael ; Perrier, Renee ; Lemyre, Emmanuelle ; Boucher, Renee-Myriam ; Skotko, Brian G. ; Waxler, Jessica L. ; Thomas, Mary Ann ; Hodge, Jennelle C. ; Gecz, Jozef ; Nicholl, Jillian ; McGregor, Lesley ; Linden, Tobias ; Sisodiya, Sanjay M. ; Sanlaville, Damien ; Cheung, Sau W. ; Ernst, Carl ; Campeau, Philippe M.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2019-09, Vol.21 (9), p.2159-2160
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A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients
Author / Creator:Curie, Aurore ; Brun, Amandine ; Cheylus, Anne ; Reboul, Anne ; Nazir, Tatjana ; Bussy, Gérald ; Delange, Karine ; Paulignan, Yves ; Mercier, Sandra ; David, Albert ; Marignier, Stéphanie ; Merle, Lydie ; de Fréminville, Bénédicte ; Prieur, Fabienne ; Till, Michel ; Mortemousque, Isabelle ; Toutain, Annick ; Bieth, Eric ; Touraine, Renaud ; Sanlaville, Damien ; Chelly, Jamel ; Kong, Jian ; Ott, Daniel ; Kassai, Behrouz ; Hadjikhani, Nouchine ; Gollub, Randy L. ; des Portes, Vincent
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-02, Vol.11 (2), p.e0149717-e0149717
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Fine Characterisation of a Recombination Hotspot at the DPY19L2 Locus and Resolution of the Paradoxical Excess of Duplications over Deletions in the General Population
Author / Creator:Coutton, Charles ; Abada, Farid ; Karaouzene, Thomas ; Sanlaville, Damien ; Satre, Véronique ; Lunardi, Joël ; Jouk, Pierre-Simon ; Arnoult, Christophe ; Thierry-Mieg, Nicolas ; Ray, Pierre F.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2013-03, Vol.9 (3), p.e1003363
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Direct Visualization of the Highly Polymorphic RNU2 Locus in Proximity to the BRCA1 Gene
Author / Creator:Tessereau, Chloé ; Buisson, Monique ; Monnet, Nastasia ; Imbert, Marine ; Barjhoux, Laure ; Schluth-Bolard, Caroline ; Sanlaville, Damien ; Conseiller, Emmanuel ; Ceppi, Maurizio ; Sinilnikova, Olga M. ; Mazoyer, Sylvie
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-10, Vol.8 (10), p.e76054
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Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization
Author / Creator:Slimani, Wafa ; Ben Khelifa, Hela ; Dimassi, Sarra ; Chioukh, Fatma-Zohra ; Jelloul, Afef ; Kammoun, Molka ; Hannachi, Hanene ; Bouslah, Sarra ; Jammali, Nesrine ; Sanlaville, Damien ; Saad, Ali ; Mougou-Zerelli, Soumaya
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2019-02, Vol.12 (1), p.5-7, Article 5
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Reinforcement of STAT3 activity reprogrammes human embryonic stem cells to naive-like pluripotency

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Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

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Sex gap in aging and longevity: can sex chromosomes play a role?

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Transposable element expression is associated with sex chromosome number in humans

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Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?

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Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review

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Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

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Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

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Chromosomal instability in the prediction of pituitary neuroendocrine tumors prognosis

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Distal Xq duplication and functional Xq disomy

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X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

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Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report

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Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

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Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia

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Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

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Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

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A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients

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Fine Characterisation of a Recombination Hotspot at the DPY19L2 Locus and Resolution of the Paradoxical Excess of Duplications over Deletions in the General Population

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Direct Visualization of the Highly Polymorphic RNU2 Locus in Proximity to the BRCA1 Gene

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Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization

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