All papers authored by Laurence Faivre
Refreshing results…
2023
Pierre‐Louis Lanvin 
,
Thomas Goronflot,
Bertrand Isidor,
Mathilde Nizon,
Benjamin Durand,
Salima El Chehadeh,
David Geneviève,
Valentin Ruault,
Mélanie Fradin,
Laurent Pasquier,
Julien Thévenon,
Bruno Delobel,
Lydie Burglen,
Alexandra Afenjar,
Laurence Faivre
and 15 other authors
,
Thomas Goronflot,
Bertrand Isidor,
Mathilde Nizon,
Benjamin Durand,
Salima El Chehadeh,
David Geneviève,
Valentin Ruault,
Mélanie Fradin,
Laurent Pasquier,
Julien Thévenon,
Bruno Delobel,
Lydie Burglen,
Alexandra Afenjar,
Laurence Faivre
and 15 other authors
Growth charts in DYRK1A syndrome
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E. Viora‐Dupont ,
A. Denommé‐Pichon ,
M. Chevarin,
O. Patat,
M. Willems ,
N. Bourgon,
A. Bruel,
M. Aubert‐Mucca,
M. Galinier,
R. Itier,
S. Decramer,
A. Piton,
B. Gerard,
C. Billon,
X. Jeunemaitre
and 7 other authors
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,
A. Denommé‐Pichon ,
M. Chevarin,
O. Patat,
M. Willems ,
N. Bourgon,
A. Bruel,
M. Aubert‐Mucca,
M. Galinier,
R. Itier,
S. Decramer,
A. Piton,
B. Gerard,
C. Billon,
X. Jeunemaitre
and 7 other authors
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Sarah E. Sheppard ,
Laura Bryant ,
Rochelle N. Wickramasekara ,
Courtney Vaccaro,
Brynn Robertson,
Jodi Hallgren ,
Jason Hulen,
Cynthia J. Watson,
Victor Faundes ,
Yannis Duffourd,
Pearl Lee ,
M. Celeste Simon ,
Xavier de la Cruz ,
Natália Padilla ,
Marco Flores-Mendez
and 105 other authors
,
Laura Bryant ,
Rochelle N. Wickramasekara ,
Courtney Vaccaro,
Brynn Robertson,
Jodi Hallgren ,
Jason Hulen,
Cynthia J. Watson,
Victor Faundes ,
Yannis Duffourd,
Pearl Lee ,
M. Celeste Simon ,
Xavier de la Cruz ,
Natália Padilla ,
Marco Flores-Mendez
and 105 other authors
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
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2022
Sayaka Kayumi ,
Luis A. Pérez-Jurado,
María Palomares,
Sneha Rangu ,
Sarah E. Sheppard ,
Wendy K. Chung ,
Michael C. Kruer ,
Mira Kharbanda ,
David J. Amor ,
George McGillivray ,
Julie S. Cohen ,
Sixto García-Miñaúr,
Clare L. van Eyk ,
Kelly Harper,
Lachlan A. Jolly
and 60 other authors
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,
Luis A. Pérez-Jurado,
María Palomares,
Sneha Rangu ,
Sarah E. Sheppard ,
Wendy K. Chung ,
Michael C. Kruer ,
Mira Kharbanda ,
David J. Amor ,
George McGillivray ,
Julie S. Cohen ,
Sixto García-Miñaúr,
Clare L. van Eyk ,
Kelly Harper,
Lachlan A. Jolly
and 60 other authors
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Emilie Tisserant,
Antonio Vitobello ,
Davide Callegarin,
Simon Verdez ,
Ange‐line Bruel ,
Ludwig Serge Aho Glele ,
Arthur Sorlin ,
Eleonore Viora‐Dupont ,
Marina Konyukh,
Nathalie Marle ,
Sophie Nambot ,
Sébastien Moutton ,
Caroline Racine ,
Aurore Garde ,
Julian Delanne
and 12 other authors
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,
Davide Callegarin,
Simon Verdez ,
Ange‐line Bruel ,
Ludwig Serge Aho Glele ,
Arthur Sorlin ,
Eleonore Viora‐Dupont ,
Marina Konyukh,
Nathalie Marle ,
Sophie Nambot ,
Sébastien Moutton ,
Caroline Racine ,
Aurore Garde ,
Julian Delanne
and 12 other authors
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Mylène Tharreau ,
Aurore Garde ,
Godelieve Morel,
Sandrine Marlin,
Christel Thauvin‐Robinet,
Sylvain Ernest,
Sophie Nambot,
Christophe Philippe,
Yannis Duffourd,
Ninon Ternoy,
Christian Duvillard,
Siddharth Banka ,
Frederic Tran Mau‐Them ,
Laurence Faivre
,
Aurore Garde ,
Godelieve Morel,
Sandrine Marlin,
Christel Thauvin‐Robinet,
Sylvain Ernest,
Sophie Nambot,
Christophe Philippe,
Yannis Duffourd,
Ninon Ternoy,
Christian Duvillard,
Siddharth Banka ,
Frederic Tran Mau‐Them ,
Laurence Faivre
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D
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Sofia Douzgou ,
Robert K. Semple ,
Siddharth Srivastava,
Pierre Vabres ,
Myfanwy Rawson,
Eulalia Baselga ,
Moise Danielpour,
Laurence Faivre ,
Alon Kashanian ,
Victor Martinez‐Glez ,
Victoria E. Parker,
Paul Kuentz ,
Grazia M. S. Mancini ,
Kim M. Keppler-Noreuil ,
Marie‐Claire Y. De Wit
and 5 other authors
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,
Robert K. Semple ,
Siddharth Srivastava,
Pierre Vabres ,
Myfanwy Rawson,
Eulalia Baselga ,
Moise Danielpour,
Laurence Faivre ,
Alon Kashanian ,
Victor Martinez‐Glez ,
Victoria E. Parker,
Paul Kuentz ,
Grazia M. S. Mancini ,
Kim M. Keppler-Noreuil ,
Marie‐Claire Y. De Wit
and 5 other authors
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Yanni Andreou,
Christel Thauvin-Robinet,
Juliette Martin,
Laurence Faivre ,
Ophélie Granon
,
Ophélie Granon
Early psychosis in Thauvin-Robinet-Faivre syndrome, a complication of the disease?
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Edwige Kasper,
Sophie Coutant,
Sandrine Manase,
Stéphanie Vasseur,
Pierre Macquère,
Gaëlle Bougeard,
Laurence Faivre ,
Olivier Ingster,
Stéphanie Baert-Desurmont,
Claude Houdayer
,
Olivier Ingster,
Stéphanie Baert-Desurmont,
Claude Houdayer
Detecting inversions in routine molecular diagnosis in MMR genes
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2021
Pierre-Henry Gabrielle,
Laurence Faivre ,
Isabelle Audo,
Xavier Zanlonghi,
Hélène Dollfus,
Alberta Ahj H. J. Thiadens,
Christina Zeitz,
Grazia M. S. Mancini,
Eléonore Lizé,
Vincent Lhussiez,
Yaumara Perdomo,
Emeline F. Nandrot,
Saddek Mohand-Saïd,
Niyazi Acar,
Catherine Creuzot-Garcher
and 5 other authors
,
Isabelle Audo,
Xavier Zanlonghi,
Hélène Dollfus,
Alberta Ahj H. J. Thiadens,
Christina Zeitz,
Grazia M. S. Mancini,
Eléonore Lizé,
Vincent Lhussiez,
Yaumara Perdomo,
Emeline F. Nandrot,
Saddek Mohand-Saïd,
Niyazi Acar,
Catherine Creuzot-Garcher
and 5 other authors
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
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Jair Antonio Tenorio‐Castaño,
Pedro Arias,
Alberto Fernández‐Jaén,
Guillermo Lay‐Son,
Gloria Bueno‐Lozano,
Allan Bayat ,
Frederic Tran‐Mau‐Them ,
Laurence Faivre ,
Sergio Ramos,
Sara Álvarez,
Natalia Gallego,
Chantal Morel,
Camerun Washington,
Stasia Hadjiyannakis,
Kameryn M. Butler
and 9 other authors
,
Frederic Tran‐Mau‐Them ,
Laurence Faivre ,
Sergio Ramos,
Sara Álvarez,
Natalia Gallego,
Chantal Morel,
Camerun Washington,
Stasia Hadjiyannakis,
Kameryn M. Butler
and 9 other authors
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features
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Stephanie Moortgat ,
Isabelle Manfroid ,
Hélène Pendeville,
Stephen Freeman,
Jordane Bourdouxhe,
Valérie Benoit ,
Ahmad Merhi ,
Christophe Philippe ,
Laurence Faivre ,
Isabelle Maystadt
,
Isabelle Manfroid ,
Hélène Pendeville,
Stephen Freeman,
Jordane Bourdouxhe,
Valérie Benoit ,
Ahmad Merhi ,
Christophe Philippe ,
Laurence Faivre ,
Isabelle Maystadt
Broadening the phenotypic spectrum and physiological insights related toEIF2S3variants
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Annie Laquerriere,
Dana Jaber,
Emanuela Abiusi,
Valerie Biancalana,
Philippe Latour,
Damien Sternberg,
Jérome Maluenda,
Yline Capri,
Alain Verloes,
Sandra Whalen,
Dan Mejlachowicz,
Bettina Bessieres,
Laurence Loeuillet,
Tania Attie-Bitach,
Jelena Martinovic
and 76 other authors
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
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Quentin Thomas ,
Frederic Tran Mau-Them,
Antonio Vitobello,
Frédéric Tran Mau-Them ,
Yannis Duffourd,
Agnès Fromont,
Maurice Giroud,
Guy-Victor Osseby,
Benoit Daubail,
Philippine Garret,
Sophie Nambot,
Agnès Jacquin-Piques,
Julian Delanne ,
Ange-Line Bruel ,
Marie Hervieu-Begue
and 10 other authors
,
Frederic Tran Mau-Them,
Antonio Vitobello,
Frédéric Tran Mau-Them ,
Yannis Duffourd,
Agnès Fromont,
Maurice Giroud,
Guy-Victor Osseby,
Benoit Daubail,
Philippine Garret,
Sophie Nambot,
Agnès Jacquin-Piques,
Julian Delanne ,
Ange-Line Bruel ,
Marie Hervieu-Begue
and 10 other authors
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics
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Ilaria Gori ,
Roger George ,
Andrew G. Purkiss ,
Stephanie Strohbuecker ,
Rebecca A. Randall,
Roksana Ogrodowicz,
Virginie Carmignac ,
Laurence Faivre ,
Dhira Joshi ,
Svend Kjaer ,
Caroline S. Hill
Download from doi.org
,
Roger George ,
Andrew G. Purkiss ,
Stephanie Strohbuecker ,
Rebecca A. Randall,
Roksana Ogrodowicz,
Virginie Carmignac ,
Laurence Faivre ,
Dhira Joshi ,
Svend Kjaer ,
Caroline S. Hill
Download from doi.org
Florence Riccardi,
Alexandre Astier,
Margot Grisval,
Arnaud Maillard,
Vincent Michaud,
Catherine Badens,
Christopher T. Gordon,
Aurélien Trimouille,
Laurence Faivre ,
Sabine Sigaudy,
Jeanne Amiel,
Svetlana Gorokhova
Download from www.nature.com
,
Sabine Sigaudy,
Jeanne Amiel,
Svetlana Gorokhova
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M. Theiler,
L. Weibel,
S. Christen-Zaech,
V. Carmignac,
A. Sorlin,
K. Neuhaus,
M. Chevarin,
C. Thauvin-Robinet,
C. Philippe ,
P. Vabres,
L. Faivre ,
P. Kuentz
,
P. Vabres,
L. Faivre ,
P. Kuentz
Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations
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