All papers authored by Christophe Philippe
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2023
Dong Li 
,
Qin Wang,
Allan Bayat ,
Mark R. Battig ,
Yijing Zhou,
Daniëlle G. M. Bosch,
Gijs van Haaften ,
Leslie Granger,
Andrea K. Petersen,
Luis A. Pérez-Jurado ,
Gemma Aznar-Laín,
Anushree Aneja,
Miroslava Hancarova,
Sarka Bendova,
Martin Schwarz
and 139 other authors
,
Qin Wang,
Allan Bayat ,
Mark R. Battig ,
Yijing Zhou,
Daniëlle G. M. Bosch,
Gijs van Haaften ,
Leslie Granger,
Andrea K. Petersen,
Luis A. Pérez-Jurado ,
Gemma Aznar-Laín,
Anushree Aneja,
Miroslava Hancarova,
Sarka Bendova,
Martin Schwarz
and 139 other authors
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
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Mio Aerden ,
Anne-Sophie Denommé-Pichon ,
Dominique Bonneau,
Ange-Line Bruel ,
Julian Delanne,
Bénédicte Gérard,
Benoît Mazel ,
Christophe Philippe ,
Lucile Pinson,
Clément Prouteau,
Audrey Putoux,
Frédéric Tran Mau-Them ,
Éléonore Viora-Dupont,
Antonio Vitobello ,
Alban Ziegler
and 43 other authors
,
Anne-Sophie Denommé-Pichon ,
Dominique Bonneau,
Ange-Line Bruel ,
Julian Delanne,
Bénédicte Gérard,
Benoît Mazel ,
Christophe Philippe ,
Lucile Pinson,
Clément Prouteau,
Audrey Putoux,
Frédéric Tran Mau-Them ,
Éléonore Viora-Dupont,
Antonio Vitobello ,
Alban Ziegler
and 43 other authors
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
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2022
Philippine Garret ,
Martin Chevarin ,
Antonio Vitobello ,
Simon Verdez ,
Cyril Fournier ,
Alain Verloes ,
Emilie Tisserant,
Pierre Vabres,
Orlane Prevel,
Christophe Philippe ,
Anne-Sophie Denommé-Pichon ,
Ange-Line Bruel ,
Frédéric Tran Mau-Them ,
Hana Safraou,
Aïcha Boughalem
and 5 other authors
,
Martin Chevarin ,
Antonio Vitobello ,
Simon Verdez ,
Cyril Fournier ,
Alain Verloes ,
Emilie Tisserant,
Pierre Vabres,
Orlane Prevel,
Christophe Philippe ,
Anne-Sophie Denommé-Pichon ,
Ange-Line Bruel ,
Frédéric Tran Mau-Them ,
Hana Safraou,
Aïcha Boughalem
and 5 other authors
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort
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Roberto Oleari,
Antonella Lettieri,
Stefano Manzini,
Alyssa Julia Jennifer Paganoni ,
Valentina André,
Paolo Grazioli,
Marco Busnelli,
Paolo Duminuco,
Antonio Vitobello,
Christophe Philippe ,
Varoona Bizaoui,
Helen L. Storr ,
Federica Amoruso,
Fani Memi,
Valeria Vezzoli
and 4 other authors
,
Valentina André,
Paolo Grazioli,
Marco Busnelli,
Paolo Duminuco,
Antonio Vitobello,
Christophe Philippe ,
Varoona Bizaoui,
Helen L. Storr ,
Federica Amoruso,
Fani Memi,
Valeria Vezzoli
and 4 other authors
Combined omic analyses reveal novel loss-of-function NLGN3 variants in GnRH deficiency and autism
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Valérie Goua Vequeau,
Alexandre Vasiljevic,
Yves Ville,
Merzouka Zidane‐Marinnes,
N. Bourgon ,
Emilie Tisserand,
Martin Chevarin,
V. Carmignac,
Julian Delanne,
Thibaud Jouan,
Charlotte Pöe,
Carine Abel,
A. Sorlin,
Patrick Allory,
Daniel Amram
and 56 other authors
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,
Emilie Tisserand,
Martin Chevarin,
V. Carmignac,
Julian Delanne,
Thibaud Jouan,
Charlotte Pöe,
Carine Abel,
A. Sorlin,
Patrick Allory,
Daniel Amram
and 56 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
Download from onlinelibrary.wiley.com
2021
Memoona Ramzan ,
Oumaima Zarrik ,
Christophe Philippe ,
Cristina Fenollar‐Ferrer ,
Inna A. Belyantseva ,
Yoko Nakano ,
Risa Tona ,
Zunaira Munir ,
Rizwan Yousaf ,
Hafiza Idrees ,
Midhat Salman ,
Rasheeda Basheer ,
Sophie Nambot ,
Antonio Vitobello ,
Ayesha Imtiaz
and 9 other authors
,
Oumaima Zarrik ,
Christophe Philippe ,
Cristina Fenollar‐Ferrer ,
Inna A. Belyantseva ,
Yoko Nakano ,
Risa Tona ,
Zunaira Munir ,
Rizwan Yousaf ,
Hafiza Idrees ,
Midhat Salman ,
Rasheeda Basheer ,
Sophie Nambot ,
Antonio Vitobello ,
Ayesha Imtiaz
and 9 other authors
Variants of human CLDN9 cause mild to profound hearing loss
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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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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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A. Sorlin,
V. Carmignac,
J. Amiel,
O. Boccara,
S. Fraitag,
A. Maruani,
M. Theiler,
L. Weibel,
C. Thauvin‐Robinet,
Y. Duffourd,
L. Faivre,
C. Philippe ,
J.‐B Rivière,
P. Vabres,
P. Kuentz
,
J.‐B Rivière,
P. Vabres,
P. Kuentz
Expanding the clinical spectrum of mosaic BRAF skin phenotypes.
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Simon Verdez ,
Quentin Thomas ,
Philippine Garret,
Emilie Tisserant,
Antonio Vitobello ,
Frédéric Tran Mau-Them ,
Céline Verstuyft,
Christophe Philippe ,
Marc Bardou,
Abderrahmane Bourredjem,
Maxime Luu ,
Patrick Callier,
Christel Thauvin-Robinet,
Nicolas Picard,
J. Albuisson
and 2 other authors
,
Quentin Thomas ,
Philippine Garret,
Emilie Tisserant,
Antonio Vitobello ,
Frédéric Tran Mau-Them ,
Céline Verstuyft,
Christophe Philippe ,
Marc Bardou,
Abderrahmane Bourredjem,
Maxime Luu ,
Patrick Callier,
Christel Thauvin-Robinet,
Nicolas Picard,
J. Albuisson
and 2 other authors
Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients
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2020
Alison Foster ,
Basile Chalot,
Thalia Antoniadi,
Elise Schaefer,
Rebecca Keelagher,
Valerie Wolff,
Gavin Ryan,
Jessica Woodley,
Ange‐Line Bruel ,
Pierre Vabres,
Quentin Thomas ,
Christel Thauvin‐Robinet,
Marc Bardou,
Christophe Philippe ,
Harriet Walker
and 13 other authors
Download from api.wiley.com
,
Basile Chalot,
Thalia Antoniadi,
Elise Schaefer,
Rebecca Keelagher,
Valerie Wolff,
Gavin Ryan,
Jessica Woodley,
Ange‐Line Bruel ,
Pierre Vabres,
Quentin Thomas ,
Christel Thauvin‐Robinet,
Marc Bardou,
Christophe Philippe ,
Harriet Walker
and 13 other authors
Download from api.wiley.com
Thi Tuyet Mai Nguyen,
Yoshiko Murakami,
Sabrina Mobilio,
Marcello Niceta,
Giuseppe Zampino,
Weiyi Mu,
Christophe Philippe ,
Kristin Baranano,
Sébastien Moutton,
Jessica R. Nance,
Jill A. Rosenfeld,
Maha S. Zaki,
Nancy Braverman,
Andrea Ciolfi,
Kiely N. James
and 23 other authors
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,
Kristin Baranano,
Sébastien Moutton,
Jessica R. Nance,
Jill A. Rosenfeld,
Maha S. Zaki,
Nancy Braverman,
Andrea Ciolfi,
Kiely N. James
and 23 other authors
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Alison Foster,
Basile Chalot,
Thalia Antoniadi,
Elise Schaefer,
Rebecca Keelagher,
Gavin Ryan,
Quentin Thomas,
Christophe Philippe ,
Ange-Line Bruel,
Arthur Sorlin
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,
Ange-Line Bruel,
Arthur Sorlin
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