All papers authored by Ange-Line Bruel
Refreshing results…
2023
Charlotte Gehin 
,
Museer A. Lone ,
Winston Lee,
Laura Capolupo ,
Sylvia Ho ,
Adekemi M. Adeyemi,
Erica H. Gerkes,
Alexander Pa A. Stegmann ,
Estrella López-Martín,
Eva Bermejo-Sánchez ,
Beatriz Martínez-Delgado,
Christiane Zweier,
Cornelia Kraus,
Bernt Popp ,
Vincent Strehlow
and 72 other authors
,
Museer A. Lone ,
Winston Lee,
Laura Capolupo ,
Sylvia Ho ,
Adekemi M. Adeyemi,
Erica H. Gerkes,
Alexander Pa A. Stegmann ,
Estrella López-Martín,
Eva Bermejo-Sánchez ,
Beatriz Martínez-Delgado,
Christiane Zweier,
Cornelia Kraus,
Bernt Popp ,
Vincent Strehlow
and 72 other authors
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Download from doi.org
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
Upload
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
Upload
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
Upload
,
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
Upload
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
Upload
,
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
Upload
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
Download from onlinelibrary.wiley.com
,
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
Anne-Sophie Denommé-Pichon ,
Antonio Vitobello ,
Robert Olaso ,
Alban Ziegler,
Médéric Jeanne ,
Thibaud Jouan,
Frédéric Tran Mau-Them ,
Anne Boland ,
Victor Couturier,
Bertrand Fin,
Caroline Racine ,
Delphine Bacq-Daian,
Céline Besse,
Aurore Garde ,
Bertrand Isidor
and 33 other authors
Download from www.nature.com
,
Antonio Vitobello ,
Robert Olaso ,
Alban Ziegler,
Médéric Jeanne ,
Thibaud Jouan,
Frédéric Tran Mau-Them ,
Anne Boland ,
Victor Couturier,
Bertrand Fin,
Caroline Racine ,
Delphine Bacq-Daian,
Céline Besse,
Aurore Garde ,
Bertrand Isidor
and 33 other authors
Download from www.nature.com
Ange-Line Bruel ,
Antonio Vitobello ,
Isabelle Thiffault,
Linda Manwaring,
Marcia Willing,
Pankaj B. Agrawal,
Allan Bayat ,
Jacob W. Zyskind,
Thomas M. Kitzler,
Catherine A. Brownstein ,
Joseph Gonzalez-Heydrich ,
Zehua Zhu,
Casie A. Genetti,
Parul Jayakar,
Gena R. Wilson
and 7 other authors
,
Antonio Vitobello ,
Isabelle Thiffault,
Linda Manwaring,
Marcia Willing,
Pankaj B. Agrawal,
Allan Bayat ,
Jacob W. Zyskind,
Thomas M. Kitzler,
Catherine A. Brownstein ,
Joseph Gonzalez-Heydrich ,
Zehua Zhu,
Casie A. Genetti,
Parul Jayakar,
Gena R. Wilson
and 7 other authors
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum
Upload
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
Upload
Leïla Ghesh ,
Thomas Besnard ,
Mathilde Nizon,
Eva Trochu,
Gaëlle Landeau‐Trottier,
Flora Breheret,
Christel Thauvin‐Robinet,
Ange‐Line Bruel ,
Paul Kuentz ,
Christine Coubes,
Laurence Cuisset,
Cyril Mignot,
Boris Keren,
Stéphane Bézieau,
Benjamin Cogné
Download from onlinelibrary.wiley.com
,
Thomas Besnard ,
Mathilde Nizon,
Eva Trochu,
Gaëlle Landeau‐Trottier,
Flora Breheret,
Christel Thauvin‐Robinet,
Ange‐Line Bruel ,
Paul Kuentz ,
Christine Coubes,
Laurence Cuisset,
Cyril Mignot,
Boris Keren,
Stéphane Bézieau,
Benjamin Cogné
Download from onlinelibrary.wiley.com
Auriane Cospain ,
Lionel Van Maldergem,
Elise Schaefer,
Marie Faoucher,
Christèle Dubourg,
Wilfrid Carré,
Varoona Bizaoui,
Jessica Assoumani,
Amélie Piton,
Bénédicte Gérard,
Ange‐Line Bruel ,
Laurence Faivre,
Florence Demurger,
Laurent Pasquier ,
Sylvie Odent
and 3 other authors
Download from onlinelibrary.wiley.com
,
Lionel Van Maldergem,
Elise Schaefer,
Marie Faoucher,
Christèle Dubourg,
Wilfrid Carré,
Varoona Bizaoui,
Jessica Assoumani,
Amélie Piton,
Bénédicte Gérard,
Ange‐Line Bruel ,
Laurence Faivre,
Florence Demurger,
Laurent Pasquier ,
Sylvie Odent
and 3 other authors
Download from onlinelibrary.wiley.com
2020
Frederic Tran Mau‐Them,
Aurore Garde ,
Jenny Cornaton,
Arthur Sorlin ,
Catherine Vincent‐Delorme,
Sébastien Moutton,
Claire Nicolas,
Annick Toutain,
Philippe Khau‐Van‐Kien,
Christine Juif,
Yann Trousselet,
Bertrand Isidor,
Fabienne Prieur,
David Geneviève,
Fanny Tessier
and 28 other authors
,
Jenny Cornaton,
Arthur Sorlin ,
Catherine Vincent‐Delorme,
Sébastien Moutton,
Claire Nicolas,
Annick Toutain,
Philippe Khau‐Van‐Kien,
Christine Juif,
Yann Trousselet,
Bertrand Isidor,
Fabienne Prieur,
David Geneviève,
Fanny Tessier
and 28 other authors
Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations
Upload
Aude Tessier ,
Judite de Oliveira,
Lucile Boutaud,
Ange‐Line Bruel ,
Christel Thauvin‐Robinet,
Philippe Roth,
Valérie Malan,
Marie‐Paule Beaujard,
Amale Achaiaa,
Judite Oliveira,
Julie Steffann,
Ferechte Encha‐Razavi,
Laurence Faivre,
Bettina Bessières,
Tania Attié‐Bitach
,
Judite de Oliveira,
Lucile Boutaud,
Ange‐Line Bruel ,
Christel Thauvin‐Robinet,
Philippe Roth,
Valérie Malan,
Marie‐Paule Beaujard,
Amale Achaiaa,
Judite Oliveira,
Julie Steffann,
Ferechte Encha‐Razavi,
Laurence Faivre,
Bettina Bessières,
Tania Attié‐Bitach
Hydrothorax in fetal cases of Opitz G/ BBB diagnosis: Extending the phenotype?
Upload
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
2019
Antonio Vitobello ,
Philippine Garret ,
Céline Bris ,
Patrizia Amati‐Bonneau,
Vincent Procaccio ,
Pierre Vabres ,
Nada Houcinat,
Ange‐Line Bruel ,
Emilie Tisserant,
Detlef Trost,
Christophe Philippe ,
François Feillet ,
Arthur Sorlin ,
Frédéric Tran Mau‐Them ,
Jean‐Marc Costa
and 5 other authors
,
Philippine Garret ,
Céline Bris ,
Patrizia Amati‐Bonneau,
Vincent Procaccio ,
Pierre Vabres ,
Nada Houcinat,
Ange‐Line Bruel ,
Emilie Tisserant,
Detlef Trost,
Christophe Philippe ,
François Feillet ,
Arthur Sorlin ,
Frédéric Tran Mau‐Them ,
Jean‐Marc Costa
and 5 other authors
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light
Download from onlinelibrary.wiley.com
2018
A. Vitobello,
Frederic Tran-Mau-Them ,
C. Thauvin-Robinet,
S. Moutton ,
A.-L. Bruel ,
M. Assoum,
M. Chevarin,
E. Sarrazin,
C. Goizet,
A.-M. Guerrot,
A. Faudet,
A. Charollais,
N. Houcinat,
C. Philippe,
P. Charles
and 3 other authors
Upload
,
C. Thauvin-Robinet,
S. Moutton ,
A.-L. Bruel ,
M. Assoum,
M. Chevarin,
E. Sarrazin,
C. Goizet,
A.-M. Guerrot,
A. Faudet,
A. Charollais,
N. Houcinat,
C. Philippe,
P. Charles
and 3 other authors
Upload
Missing publications? Search for publications with a matching author name.