All papers authored by Laurence Faivre
Refreshing results…
2023
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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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,
Sara Álvarez,
Camerun Washington,
Frederic Tran‐Mau‐Them ,
The S. O. G. R. I. Consortium,
Pedro Arias,
Alberto Fernández‐Jaén,
Guillermo Lay‐Son,
Gloria Bueno‐Lozano,
Sergio Ramos,
Allan Bayat,
Laurence Faivre ,
Chantal Morel,
Stasia Hadjiyannakis,
Natalia Gallego
and 9 other authors
,
The S. O. G. R. I. Consortium,
Pedro Arias,
Alberto Fernández‐Jaén,
Guillermo Lay‐Son,
Gloria Bueno‐Lozano,
Sergio Ramos,
Allan Bayat,
Laurence Faivre ,
Chantal Morel,
Stasia Hadjiyannakis,
Natalia Gallego
and 9 other authors
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features
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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
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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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F. Koraichi,
F. Ader,
E. Donal,
C. Bordet,
P. De Groote,
A. Moerman,
L. Faivre ,
D. Babuty,
P. Réant,
A. Palmyre,
K. Nguyen,
C. Thambo,
B. Isidor,
A. Toutain,
A. Brehin
and 4 other authors
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,
D. Babuty,
P. Réant,
A. Palmyre,
K. Nguyen,
C. Thambo,
B. Isidor,
A. Toutain,
A. Brehin
and 4 other authors
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Alexander Jm M. Dingemans,
Kim Mg G. Truijen,
Jung-Hyun Kim,
Zahide Alaçam,
Laurence Faivre ,
Kathleen M. Collins,
Mathilde Nizon,
James Pauling,
Erica H. Gerkes,
Edyta Heropolitańska-Pliszka,
Astrid S. Plomp,
Mieke van Haelst,
Caroline Racine,
Ingrid Mbh B. H. van de Laar,
Rani Sachdev
and 10 other authors
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,
Kathleen M. Collins,
Mathilde Nizon,
James Pauling,
Erica H. Gerkes,
Edyta Heropolitańska-Pliszka,
Astrid S. Plomp,
Mieke van Haelst,
Caroline Racine,
Ingrid Mbh B. H. van de Laar,
Rani Sachdev
and 10 other authors
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