All papers authored by Frederic Tran Mau Them
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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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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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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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Elsa Leitão ,
Christopher Schröder,
Ilaria Parenti ,
Carine Dalle,
Agnès Rastetter,
Theresa Kühnel ,
Alma Kuechler,
Sabine Kaya,
Bénédicte Gérard,
Elise Schaefer,
Caroline Nava ,
Nathalie Drouot,
Camille Engel,
Juliette Piard ,
Bénédicte Duban-Bedu
and 22 other authors
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,
Christopher Schröder,
Ilaria Parenti ,
Carine Dalle,
Agnès Rastetter,
Theresa Kühnel ,
Alma Kuechler,
Sabine Kaya,
Bénédicte Gérard,
Elise Schaefer,
Caroline Nava ,
Nathalie Drouot,
Camille Engel,
Juliette Piard ,
Bénédicte Duban-Bedu
and 22 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
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Mylène Tharreau ,
Aurore Garde ,
Godelieve Morel,
Sandrine Marlin,
Christel Thauvin‐Robinet,
Sylvain Ernest,
Sophie Nambot,
Christophe Philippe,
Yannis Duffourd,
Ninon Ternoy,
Christian Duvillard,
Siddharth Banka ,
Frederic Tran Mau‐Them ,
Laurence Faivre
,
Aurore Garde ,
Godelieve Morel,
Sandrine Marlin,
Christel Thauvin‐Robinet,
Sylvain Ernest,
Sophie Nambot,
Christophe Philippe,
Yannis Duffourd,
Ninon Ternoy,
Christian Duvillard,
Siddharth Banka ,
Frederic Tran Mau‐Them ,
Laurence Faivre
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D
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Imke N. Van Kessel,
Marie Vincent,
Mathys Weber,
Marjolaine Willems,
Nathalie Ruiz-Pallares,
Frederic Tran-Mau-Them ,
Bekim Sadikovic,
Flavien Rouxel,
Raissa Relator,
Jennifer Kerkhof,
Haley McConkey,
Michael Levy,
Florian Cherik,
Patricia Dias,
Andrée Delahaye-Duriez
and 19 other authors
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,
Bekim Sadikovic,
Flavien Rouxel,
Raissa Relator,
Jennifer Kerkhof,
Haley McConkey,
Michael Levy,
Florian Cherik,
Patricia Dias,
Andrée Delahaye-Duriez
and 19 other authors
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2021
Audrey Schalk,
Karen E. Wain,
Aurélien Trimouille ,
Julien Van-Gils,
Camerun Washington,
Gabriella Vera,
Christiane Zweier,
Matias Wagner ,
Heike Weigand,
Koen van Gassen,
Yuri Alexander Zarate,
Michael T. Zimmermann,
Margot A. Cousin,
Nikita R. Dsouza,
Thomas D. Challman
and 57 other authors
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,
Julien Van-Gils,
Camerun Washington,
Gabriella Vera,
Christiane Zweier,
Matias Wagner ,
Heike Weigand,
Koen van Gassen,
Yuri Alexander Zarate,
Michael T. Zimmermann,
Margot A. Cousin,
Nikita R. Dsouza,
Thomas D. Challman
and 57 other authors
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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
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,
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
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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 ,
Aurore Garde
,
Allan Bayat,
Julien Buratti,
Thomas Courtin,
Anne-Sophie Denommé-Pichon ,
Aurore Garde
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,
Yannis Duffourd,
Antonio Vitobello,
Frederic Tran Mau Them ,
Ange-Line Bruel,
Anne-Sophie Denommé-Pichon ,
Sophie Nambot,
Julian Delanne,
Victor Couturier,
Valentin Bourgeois,
Sebastien Moutton,
Martin Chevarin,
Arthur Sorlin,
Charlotte Poe,
Anne-Laure Mosca-Boidron
and 7 other authors
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,
Ange-Line Bruel,
Anne-Sophie Denommé-Pichon ,
Sophie Nambot,
Julian Delanne,
Victor Couturier,
Valentin Bourgeois,
Sebastien Moutton,
Martin Chevarin,
Arthur Sorlin,
Charlotte Poe,
Anne-Laure Mosca-Boidron
and 7 other authors
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Antonio Vitobello,
Marjolaine Willems,
Julien Thevenon,
Christel Thauvin-Robinet,
Frederic Tran Mau Them ,
Julian Delanne,
Ange-Line Bruel,
Nolwenn Jean-Marcais,
Frédéric Huet,
Anne-Laure Mosca-Boidron,
Frédéric Tran Mau-Them,
Sébastien Moutton,
Anne-Sophie Denommé-Pichon ,
Sophie Nambot,
Daphné Lehalle
and 23 other authors
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,
Julian Delanne,
Ange-Line Bruel,
Nolwenn Jean-Marcais,
Frédéric Huet,
Anne-Laure Mosca-Boidron,
Frédéric Tran Mau-Them,
Sébastien Moutton,
Anne-Sophie Denommé-Pichon ,
Sophie Nambot,
Daphné Lehalle
and 23 other authors
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Jean‐Marie Ravel ,
Natacha Dreumont,
Pauline Mosca,
Desiree Ec C. Smith,
Marisa I. Mendes,
Jean‐Baptiste Rivière,
Arnaud Wiedemann,
Frédéric Tran Mau‐Them ,
David Coelho,
Frédéric Tran Mau‐Them,
Julien Thevenon,
Emmanuelle Schmitt,
Paul Kuentz ,
Marc Polivka,
Sabine A. Fuchs
and 6 other authors
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,
Natacha Dreumont,
Pauline Mosca,
Desiree Ec C. Smith,
Marisa I. Mendes,
Jean‐Baptiste Rivière,
Arnaud Wiedemann,
Frédéric Tran Mau‐Them ,
David Coelho,
Frédéric Tran Mau‐Them,
Julien Thevenon,
Emmanuelle Schmitt,
Paul Kuentz ,
Marc Polivka,
Sabine A. Fuchs
and 6 other authors
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Quentin Thomas ,
Thierry Gautier,
Dana Marafi,
Marjolaine Willems,
Arthur Sorlin,
Thomas Besnard,
Maria Iascone ,
Sébastien Moutton,
Alice Masurel,
Bertand Isidor,
Fatema Al Zahrani,
Adam Jackson,
Nebal Waill Saadi,
James R. Lupski,
Benjamin Cogné
and 27 other authors
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,
Thierry Gautier,
Dana Marafi,
Marjolaine Willems,
Arthur Sorlin,
Thomas Besnard,
Maria Iascone ,
Sébastien Moutton,
Alice Masurel,
Bertand Isidor,
Fatema Al Zahrani,
Adam Jackson,
Nebal Waill Saadi,
James R. Lupski,
Benjamin Cogné
and 27 other authors
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Jérémie Courraud,
Eric Chater-Diehl,
Benjamin Durand,
Marie Vincent,
Maria del Mar Muniz Moreno,
Imene Boujelbene,
Nathalie Drouot,
Loréline Genschik,
Bénédicte Gerard,
Elise Schaefer,
Marc Abramowicz,
Mathilde Nizon,
Benjamin Cogné,
Lucas Bronicki,
Lydie Burglen
and 56 other authors
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
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Clara Velmans ,
Anne H. O'Donnell Luria,
Emanuela Argilli,
Frederic Tran Mau-Them,
Frederic Tran Mau-Them ,
Antonio Vitobello ,
Marcus Cy Chan,
Jasmine Lee-Fong Fung,
Megan Rech,
Angela Abicht,
Marion Aubert Mucca ,
Marion Aubert Mucca,
Jason Carmichael,
Nicolas Chassaing,
Robin Clark
and 26 other authors
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,
Anne H. O'Donnell Luria,
Emanuela Argilli,
Frederic Tran Mau-Them,
Frederic Tran Mau-Them ,
Antonio Vitobello ,
Marcus Cy Chan,
Jasmine Lee-Fong Fung,
Megan Rech,
Angela Abicht,
Marion Aubert Mucca ,
Marion Aubert Mucca,
Jason Carmichael,
Nicolas Chassaing,
Robin Clark
and 26 other authors
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Jair Antonio Tenorio‐Castaño,
Pedro Arias,
Alberto Fernández‐Jaén,
Guillermo Lay‐Son,
Gloria Bueno‐Lozano,
Allan Bayat ,
Frederic Tran‐Mau‐Them ,
Laurence Faivre ,
Sergio Ramos,
Sara Álvarez,
Natalia Gallego,
Chantal Morel,
Camerun Washington,
Stasia Hadjiyannakis,
Kameryn M. Butler
and 9 other authors
,
Frederic Tran‐Mau‐Them ,
Laurence Faivre ,
Sergio Ramos,
Sara Álvarez,
Natalia Gallego,
Chantal Morel,
Camerun Washington,
Stasia Hadjiyannakis,
Kameryn M. Butler
and 9 other authors
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features
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