Papers authored by Anne-Sophie Denommé-Pichon
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2021
Anya Revah-Politi,
Smitha Kumble,
Fernando Santos-Simarro,
Amanda M. Levy,
Jaya Punetha,
Hua Gao,
Nicholas Ah Mew,
Michael Ciliberto,
Julie S. Cohen,
Anne M. Comi,
Cynthia Curry,
Lena Damaj,
Lisa Emrick,
Anne-Sophie Denommé-Pichon 
,
Laurence Faivre
and 45 other authors
,
Laurence Faivre
and 45 other authors
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
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2020
Alban Ziegler ,
Anne‐Sophie Denommé‐Pichon ,
Sophie Boucher,
Nathalie Bouzamondo,
Estelle Colin,
Xavier Dieu,
Tanguy Jean Yves,
Tanguy Jean Yves,
Natacha Bouhours,
Stéphanie Rouleau,
Régis Coutant,
Patrice Rodien,
Delphine Prunier ,
Dominique Bonneau
,
Anne‐Sophie Denommé‐Pichon ,
Sophie Boucher,
Nathalie Bouzamondo,
Estelle Colin,
Xavier Dieu,
Tanguy Jean Yves,
Tanguy Jean Yves,
Natacha Bouhours,
Stéphanie Rouleau,
Régis Coutant,
Patrice Rodien,
Delphine Prunier ,
Dominique Bonneau
Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO
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Anaı̈s Begemann,
Heinrich Sticht,
Antonio Vitobello,
Laurence Faivre ,
Dave A. Dyment,
Hartmut Engels,
John Henry McDermott,
Rachel Fisher,
Katrin Õunap,
Kirsty McWalter,
Amber Begtrup,
Pierre Meyer,
Elaine S. Goh,
Bernt Popp,
Siddharth Banka
and 36 other authors
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,
Dave A. Dyment,
Hartmut Engels,
John Henry McDermott,
Rachel Fisher,
Katrin Õunap,
Kirsty McWalter,
Amber Begtrup,
Pierre Meyer,
Elaine S. Goh,
Bernt Popp,
Siddharth Banka
and 36 other authors
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Francis Ramond ,
Marlène Rio,
Bénédicte Héron,
Apolline Imbard,
Sandrine Marie,
Paul Kuentz,
Monique Piraud,
Marie‐Françoise Vincent,
Renaud Touraine,
Kareen Billemaz,
Kareen Billiemaz,
Anne‐Sophie Denommé‐Pichon ,
Irène Ceballos
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,
Marlène Rio,
Bénédicte Héron,
Apolline Imbard,
Sandrine Marie,
Paul Kuentz,
Monique Piraud,
Marie‐Françoise Vincent,
Renaud Touraine,
Kareen Billemaz,
Kareen Billiemaz,
Anne‐Sophie Denommé‐Pichon ,
Irène Ceballos
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Ange‐Line Bruel ,
Antonio Vitobello ,
Frédéric Tran Mau‐Them,
Sophie Nambot ,
Frédéric Tran Mau‐Them ,
Arthur Sorlin,
Anne‐Sophie Denommé‐Pichon ,
Julian Delanne,
Sébastien Moutton,
Christophe Philippe,
Patrick Callier,
Yannis Duffourd,
Christel Thauvin‐Robinet,
Laurence Faivre
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,
Antonio Vitobello ,
Frédéric Tran Mau‐Them,
Sophie Nambot ,
Frédéric Tran Mau‐Them ,
Arthur Sorlin,
Anne‐Sophie Denommé‐Pichon ,
Julian Delanne,
Sébastien Moutton,
Christophe Philippe,
Patrick Callier,
Yannis Duffourd,
Christel Thauvin‐Robinet,
Laurence Faivre
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2019
Benjamin Cogné,
Sophie Ehresmann,
Justine Rousseau ,
Thomas Garcia,
Slavé Petrovski,
Kirsty McWalter,
Stephan J. Sanders,
Kévin Uguen,
Jacqueline Harris,
Eliane Beauregard-Lacroix,
Anna Lehman,
Thomas Besnard,
Mindy H. Li,
Usha Kini,
Shelagh Joss
and 100 other authors
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,
Thomas Garcia,
Slavé Petrovski,
Kirsty McWalter,
Stephan J. Sanders,
Kévin Uguen,
Jacqueline Harris,
Eliane Beauregard-Lacroix,
Anna Lehman,
Thomas Besnard,
Mindy H. Li,
Usha Kini,
Shelagh Joss
and 100 other authors
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2018
Marie-Laure Vuillaume ,
Médéric Jeanne,
Li Xue,
Sophie Blesson,
Anne-Sophie Denommé-Pichon ,
Servane Alirol,
Céline Brulard,
Estelle Colin,
Bertrand Isidor,
Brigitte Gilbert-Dussardier,
Sylvie Odent,
Philippe Parent,
Audrey Donnart,
Richard Redon,
Stéphane Bézieau
and 3 other authors
,
Médéric Jeanne,
Li Xue,
Sophie Blesson,
Anne-Sophie Denommé-Pichon ,
Servane Alirol,
Céline Brulard,
Estelle Colin,
Bertrand Isidor,
Brigitte Gilbert-Dussardier,
Sylvie Odent,
Philippe Parent,
Audrey Donnart,
Richard Redon,
Stéphane Bézieau
and 3 other authors
A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype
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M. L. Vuillaume,
M. Jeanne,
L. Xue,
S. Blesson,
A. S. Denommé Pichon ,
S. Alirol,
C. Brulard,
E. Colin,
B. Isidor,
B. Gilbert Dussardier,
S. Odent,
P. Parent,
A. Donnart,
R. Redon,
S. Bézieau
and 3 other authors
,
S. Alirol,
C. Brulard,
E. Colin,
B. Isidor,
B. Gilbert Dussardier,
S. Odent,
P. Parent,
A. Donnart,
R. Redon,
S. Bézieau
and 3 other authors
A novel mutation in the TM6 domain of GABBR2 leads to a Rett-like phenotype
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2017
Sébastien Küry,
Geeske M. van Woerden,
Martina Proietti Onori,
Martina Proietti Onori,
Thomas Besnard ,
Meghan C. Towne,
Xénia Latypova,
Megan T. Cho,
S. Kury,
Trine E. Prescott,
Melissa A. Ploeg,
Holly A. F. Stessman,
Stephan Sanders,
Aurora Pujol,
Ben Distel
and 91 other authors
,
Meghan C. Towne,
Xénia Latypova,
Megan T. Cho,
S. Kury,
Trine E. Prescott,
Melissa A. Ploeg,
Holly A. F. Stessman,
Stephan Sanders,
Aurora Pujol,
Ben Distel
and 91 other authors
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
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