All papers authored by Laurence Faivre
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Christel Thauvin‐Robinet,
Mylène Tharreau 
,
Aurore Garde,
Godelieve Morel,
Christophe Philippe,
Sandrine Marlin,
Sophie Nambot,
Sylvain Ernest,
Ninon Ternoy,
Yannis Duffourd,
Christian Duvillard,
Siddharth Banka ,
Frederic Tran Mau‐Them ,
Laurence Faivre
,
Aurore Garde,
Godelieve Morel,
Christophe Philippe,
Sandrine Marlin,
Sophie Nambot,
Sylvain Ernest,
Ninon Ternoy,
Yannis Duffourd,
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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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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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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Conny M. A. van Ravenswaaij‐Arts,
Jonathan Lévy ,
Alain Verloes ,
Anne‐Claude Tabet ,
Bérénice Schell,
Hala Nasser,
Myriam Rachid,
Lyse Ruaud ,
Nathalie Couque ,
Patrick Callier,
Morgane Plutino,
Houda Karmous‐Benailly,
Laurence Faivre ,
Caroline Benech,
Sylvia Redon
and 9 other authors
,
Alain Verloes ,
Anne‐Claude Tabet ,
Bérénice Schell,
Hala Nasser,
Myriam Rachid,
Lyse Ruaud ,
Nathalie Couque ,
Patrick Callier,
Morgane Plutino,
Houda Karmous‐Benailly,
Laurence Faivre ,
Caroline Benech,
Sylvia Redon
and 9 other authors
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
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