Papers authored by Anne-Sophie Denommé-Pichon
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Benedetta Kassabian,
Amanda M. Levy 
,
Elena Gardella ,
Angel Aledo‐Serrano ,
Amitha L. Ananth,
Alejandro J. Brea‐Fernández,
Roseline Caumes,
Nicolas Chatron,
Alice Dainelli ,
Matthias De Wachter,
Anne‐Sophie Denommé‐Pichon ,
Thomas J. Dye,
Elisa Fazzi,
Roxanne Felt,
Alberto Fernández‐Jaén
and 49 other authors
,
Elena Gardella ,
Angel Aledo‐Serrano ,
Amitha L. Ananth,
Alejandro J. Brea‐Fernández,
Roseline Caumes,
Nicolas Chatron,
Alice Dainelli ,
Matthias De Wachter,
Anne‐Sophie Denommé‐Pichon ,
Thomas J. Dye,
Elisa Fazzi,
Roxanne Felt,
Alberto Fernández‐Jaén
and 49 other authors
Developmental epileptic encephalopathy in DLG4‐related synaptopathy
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2023
Thomas Husson ,
François Lecoquierre,
Gaël Nicolas ,
Anne-Claire Richard,
Alexandra Afenjar,
Séverine Audebert-Bellanger,
Catherine Badens,
Frédéric Bilan,
Varoona Bizaoui,
Anne Boland,
Marie-Noëlle Bonnet-Dupeyron,
Elise Brischoux-Boucher ,
Céline Bonnet ,
Marie Bournez ,
Odile Boute
and 89 other authors
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François Lecoquierre,
Gaël Nicolas ,
Anne-Claire Richard,
Alexandra Afenjar,
Séverine Audebert-Bellanger,
Catherine Badens,
Frédéric Bilan,
Varoona Bizaoui,
Anne Boland,
Marie-Noëlle Bonnet-Dupeyron,
Elise Brischoux-Boucher ,
Céline Bonnet ,
Marie Bournez ,
Odile Boute
and 89 other authors
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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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Anne-Sophie Denommé-Pichon ,
Leslie Matalonga,
Elke de Boer,
Adam Jackson,
Elisa Benetti,
Siddharth Banka,
Ange-Line Bruel,
Andrea Ciolfi,
Jill Clayton-Smith,
Bruno Dallapiccola,
Yannis Duffourd,
Kornelia Ellwanger,
Chiara Fallerini,
Christian Gilissen,
Holm Graessner
and 420 other authors
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,
Leslie Matalonga,
Elke de Boer,
Adam Jackson,
Elisa Benetti,
Siddharth Banka,
Ange-Line Bruel,
Andrea Ciolfi,
Jill Clayton-Smith,
Bruno Dallapiccola,
Yannis Duffourd,
Kornelia Ellwanger,
Chiara Fallerini,
Christian Gilissen,
Holm Graessner
and 420 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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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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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
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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
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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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Guillaume Jouret,
Solveig Heide,
Arthur Sorlin,
Laurence Faivre,
Sandra Chantot‐Bastaraud,
Claire Beneteau,
Marie Denis‐Musquer,
Peter D. Turnpenny,
Charles Coutton ,
Gaëlle Vieville,
Julien Thevenon,
Austin Larson,
Florence Petit ,
Elise Boudry,
Thomas Smol
and 24 other authors
Download from onlinelibrary.wiley.com
,
Gaëlle Vieville,
Julien Thevenon,
Austin Larson,
Florence Petit ,
Elise Boudry,
Thomas Smol
and 24 other authors
Download from onlinelibrary.wiley.com
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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