All papers authored by Anne-Sophie Denommé-Pichon
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2022
Liselot van der Laan 
,
Kathleen Rooney ,
Mariëlle Alders,
Raissa Relator,
Haley McConkey,
Jennifer Kerkhof ,
Michael A. Levy,
Peter Lauffer ,
Mio Aerden,
Miel Theunis ,
Eric Legius,
Matthew L. Tedder ,
Lisenka E. L. M. Vissers ,
Saskia Koene,
Claudia Ruivenkamp
and 20 other authors
,
Kathleen Rooney ,
Mariëlle Alders,
Raissa Relator,
Haley McConkey,
Jennifer Kerkhof ,
Michael A. Levy,
Peter Lauffer ,
Mio Aerden,
Miel Theunis ,
Eric Legius,
Matthew L. Tedder ,
Lisenka E. L. M. Vissers ,
Saskia Koene,
Claudia Ruivenkamp
and 20 other authors
Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome
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Quentin Thomas ,
Marialetizia Motta,
Thierry Gautier,
Maha S. Zaki,
Andrea Ciolfi,
Julien Paccaud,
François Girodon,
Odile Boespflug-Tanguy,
Thomas Besnard,
Jennifer Kerkhof,
Haley McConkey,
Aymeric Masson,
Anne-Sophie Denommé-Pichon ,
Benjamin Cogné,
Eva Trochu
and 48 other authors
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,
Marialetizia Motta,
Thierry Gautier,
Maha S. Zaki,
Andrea Ciolfi,
Julien Paccaud,
François Girodon,
Odile Boespflug-Tanguy,
Thomas Besnard,
Jennifer Kerkhof,
Haley McConkey,
Aymeric Masson,
Anne-Sophie Denommé-Pichon ,
Benjamin Cogné,
Eva Trochu
and 48 other authors
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Sébastien Küry ,
Jinwei Zhang,
Thomas Besnard,
Alfonso Caro-Llopis,
Xue Zeng,
Stephanie M. Robert,
Sunday S. Josiah,
Emre Kiziltug,
Anne-Sophie Denommé-Pichon ,
Benjamin Cogné,
Adam J. Kundishora,
Le T. Hao,
Hong Li,
Roger E. Stevenson,
Raymond J. Louie
and 65 other authors
,
Jinwei Zhang,
Thomas Besnard,
Alfonso Caro-Llopis,
Xue Zeng,
Stephanie M. Robert,
Sunday S. Josiah,
Emre Kiziltug,
Anne-Sophie Denommé-Pichon ,
Benjamin Cogné,
Adam J. Kundishora,
Le T. Hao,
Hong Li,
Roger E. Stevenson,
Raymond J. Louie
and 65 other authors
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
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Martin Krahn,
Damien Sanlaville,
Caroline Schluth-Bolard,
Anne-Sophie Denommé-Pichon ,
Anne-Sophie Denommé-Pichon,
Jean Muller
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,
Anne-Sophie Denommé-Pichon,
Jean Muller
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Silvestre Cuinat ,
Mathilde Nizon,
Bertrand Isidor,
Alexander Stegmann,
Richard H. van Jaarsveld,
Koen L. van Gassen,
Jasper J. van der Smagt,
Catharina M. L. Volker-Touw,
Sjoerd J. B. Holwerda,
Paulien A. Terhal,
Sarah Schuhmann,
Georgia Vasileiou,
Mohamed Khalifa,
Alaa A. Nugud,
Hemad Yasaei
and 36 other authors
,
Mathilde Nizon,
Bertrand Isidor,
Alexander Stegmann,
Richard H. van Jaarsveld,
Koen L. van Gassen,
Jasper J. van der Smagt,
Catharina M. L. Volker-Touw,
Sjoerd J. B. Holwerda,
Paulien A. Terhal,
Sarah Schuhmann,
Georgia Vasileiou,
Mohamed Khalifa,
Alaa A. Nugud,
Hemad Yasaei
and 36 other authors
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
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Lisa Pavinato ,
Andrea Delle Vedove,
Diana Carli,
Marta Ferrero,
Silvia Carestiato,
Jennifer L. Howe,
Emanuele Agolini ,
Domenico A. Coviello,
Ingrid van de Laar,
Ping Yee Billie Au,
Eleonora Di Gregorio,
Alessandra Fabbiani,
Susanna Croci,
Maria Antonietta Mencarelli,
Lucia P. Bruno
and 19 other authors
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,
Andrea Delle Vedove,
Diana Carli,
Marta Ferrero,
Silvia Carestiato,
Jennifer L. Howe,
Emanuele Agolini ,
Domenico A. Coviello,
Ingrid van de Laar,
Ping Yee Billie Au,
Eleonora Di Gregorio,
Alessandra Fabbiani,
Susanna Croci,
Maria Antonietta Mencarelli,
Lucia P. Bruno
and 19 other authors
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Felix Marbach,
Beata S. Lipska‐Ziętkiewicz,
Agata Knurowska,
Vincent Michaud,
Henri Margot,
James Lespinasse,
Frédéric Tran Mau Them,
Christine Coubes,
Joohyun Park,
Sarah Grosch,
Cristiana Roggia,
Ute Grasshoff,
Louisa Kalsner ,
Anne‐Sophie Denommé‐Pichon ,
Alexandra Afenjar
and 4 other authors
,
Anne‐Sophie Denommé‐Pichon ,
Alexandra Afenjar
and 4 other authors
Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome
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Amélie Cordovado ,
Martina Schaettin,
Médéric Jeanne,
Veranika Panasenkava,
Anne-Sophie Denommé-Pichon ,
Boris Keren,
Cyril Mignot,
Martine Doco-Fenzy,
Lance Rodan,
Keri Ramsey,
Vinodh Narayanan,
Julie R. Jones,
Eloise J. Prijoles,
Wendy G. Mitchell,
Jillian R. Ozmore
and 33 other authors
,
Martina Schaettin,
Médéric Jeanne,
Veranika Panasenkava,
Anne-Sophie Denommé-Pichon ,
Boris Keren,
Cyril Mignot,
Martine Doco-Fenzy,
Lance Rodan,
Keri Ramsey,
Vinodh Narayanan,
Julie R. Jones,
Eloise J. Prijoles,
Wendy G. Mitchell,
Jillian R. Ozmore
and 33 other authors
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance
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Daphné Lehalle ,
Ange‐Line Bruel ,
Antonio Vitobello,
Anne‐Sophie Denommé‐Pichon ,
Yannis Duffourd,
Mirna Assoum,
Jeanne Amiel,
Geneviève Baujat,
Bettina Bessieres,
Stefania Bigoni ,
Lydie Burglen,
Guillaume Captier,
Rodolphe Dard,
Patrick Edery,
Fernanda Fortunato
and 27 other authors
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,
Ange‐Line Bruel ,
Antonio Vitobello,
Anne‐Sophie Denommé‐Pichon ,
Yannis Duffourd,
Mirna Assoum,
Jeanne Amiel,
Geneviève Baujat,
Bettina Bessieres,
Stefania Bigoni ,
Lydie Burglen,
Guillaume Captier,
Rodolphe Dard,
Patrick Edery,
Fernanda Fortunato
and 27 other authors
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Them Ftm,
A. Overs,
A. Bruel,
R. Duquet,
M. Thareau,
A. Denommé Pichon ,
A. Vitobello,
A. Sorlin,
H. Safraou,
S. Nambot,
J. Delanne,
S. Moutton,
C. Racine,
C. Thauvin Robinet
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,
A. Vitobello,
A. Sorlin,
H. Safraou,
S. Nambot,
J. Delanne,
S. Moutton,
C. Racine,
C. Thauvin Robinet
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Elke de Boer,
Burcu Yaldiz,
Anne-Sophie Denommé-Pichon ,
Leslie Matalonga,
Steve Laurie,
Wouter Steyaert,
Rick de Reuver,
Christian Gilissen,
Michael Kwint,
Rolph Pfundt,
Alain Verloes,
Michèl A. A. P. Willemsen,
Bert B. A. de Vries,
A. Vitobello,
Tjitske Kleefstra
and 76 other authors
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,
Leslie Matalonga,
Steve Laurie,
Wouter Steyaert,
Rick de Reuver,
Christian Gilissen,
Michael Kwint,
Rolph Pfundt,
Alain Verloes,
Michèl A. A. P. Willemsen,
Bert B. A. de Vries,
A. Vitobello,
Tjitske Kleefstra
and 76 other authors
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2021
Anne-Sophie Denommé-Pichon ,
Antonio Vitobello ,
Robert Olaso ,
Alban Ziegler,
Médéric Jeanne ,
Thibaud Jouan,
Anne Boland ,
Bertrand Fin,
Delphine Bacq-Daian,
Victor Couturier,
Céline Besse,
Marie Vincent ,
Aurore Garde,
Caroline Racine ,
Adeline Prost
and 33 other authors
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,
Antonio Vitobello ,
Robert Olaso ,
Alban Ziegler,
Médéric Jeanne ,
Thibaud Jouan,
Anne Boland ,
Bertrand Fin,
Delphine Bacq-Daian,
Victor Couturier,
Céline Besse,
Marie Vincent ,
Aurore Garde,
Caroline Racine ,
Adeline Prost
and 33 other authors
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Katrine M. Johannesen,
Sandra Whalen,
Elena Gardella,
Cathrine E. Gjerulfsen,
Rob Pw Rouhl,
Margot Reijnders,
Boris Keren,
Frederic Tran Mau Them ,
Allan Bayat,
Julien Buratti,
Thomas Courtin,
Anne-Sophie Denommé-Pichon
,
Allan Bayat,
Julien Buratti,
Thomas Courtin,
Anne-Sophie Denommé-Pichon
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
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Juliette Coursimault,
Anne-Marie Guerrot,
Michelle M. Morrow,
Francisca Millan Zamora,
Ange-Line Bruel,
Catherine Schramm,
Anne-Sophie Denommé-Pichon ,
Laurence Faivre,
Stéphanie Valence,
Marine Tessarech,
Anita Shanmugham,
Estelle Colin,
Salima El Chehadeh,
Bénédicte Gérard,
Fanggeng Zou
and 55 other authors
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,
Laurence Faivre,
Stéphanie Valence,
Marine Tessarech,
Anita Shanmugham,
Estelle Colin,
Salima El Chehadeh,
Bénédicte Gérard,
Fanggeng Zou
and 55 other authors
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Frederic Tran Mau-Them,
Antonio Vitobello,
Yannis Duffourd,
Ange-Line Bruel,
Anne-Sophie Denommé-Pichon ,
Sophie Nambot,
Frederic Tran Mau Them ,
Victor Couturier,
Julian Delanne,
Valentin Bourgeois,
Sebastien Moutton,
Martin Chevarin,
Charlotte Poe,
Arthur Sorlin,
Anne-Laure Mosca-Boidron
and 6 other authors
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,
Sophie Nambot,
Frederic Tran Mau Them ,
Victor Couturier,
Julian Delanne,
Valentin Bourgeois,
Sebastien Moutton,
Martin Chevarin,
Charlotte Poe,
Arthur Sorlin,
Anne-Laure Mosca-Boidron
and 6 other authors
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Antonio Vitobello,
Marjolaine Willems,
Julian Delanne,
Ange-Line Bruel,
Frédéric Huet,
Sébastien Moutton,
Sophie Nambot,
Nolwenn Jean-Marcais,
Anne-Laure Mosca-Boidron,
Frédéric Tran Mau-Them,
Margot Grisval,
Anne-Sophie Denommé-Pichon ,
Nada Houcinat,
Daphné Lehalle,
Salima El Chehadeh
and 23 other authors
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,
Nada Houcinat,
Daphné Lehalle,
Salima El Chehadeh
and 23 other authors
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