All papers authored by Sébastien Küry
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2023
Frédéric Ebstein 
,
Sébastien Küry ,
Victoria Most ,
Cory Rosenfelt ,
Marie-Pier Scott-Boyer,
Geeske M. van Woerden ,
Thomas Besnard ,
Jonas Johannes Papendorf,
Maja Studencka-Turski ,
Tianyun Wang ,
Tzung-Chien Hsieh ,
Richard Golnik ,
Dustin Baldridge ,
Cara Forster,
Charlotte de Konink
and 59 other authors
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,
Sébastien Küry ,
Victoria Most ,
Cory Rosenfelt ,
Marie-Pier Scott-Boyer,
Geeske M. van Woerden ,
Thomas Besnard ,
Jonas Johannes Papendorf,
Maja Studencka-Turski ,
Tianyun Wang ,
Tzung-Chien Hsieh ,
Richard Golnik ,
Dustin Baldridge ,
Cara Forster,
Charlotte de Konink
and 59 other authors
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2022
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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Salima El Chehadeh ,
Kyung Ah Han,
Dongwook Kim,
Gyubin Jang,
Somayeh Bakhtiari,
Dongseok Lim,
Hee Young Kim,
Jinhu Kim,
Hyeonho Kim,
Julia Wynn,
Wendy K. Chung,
Giuseppina Vitiello,
Ioana Cutcutache,
Matthew Page,
Jozef Gecz
and 25 other authors
Download from doi.org
,
Kyung Ah Han,
Dongwook Kim,
Gyubin Jang,
Somayeh Bakhtiari,
Dongseok Lim,
Hee Young Kim,
Jinhu Kim,
Hyeonho Kim,
Julia Wynn,
Wendy K. Chung,
Giuseppina Vitiello,
Ioana Cutcutache,
Matthew Page,
Jozef Gecz
and 25 other authors
Download from doi.org
Tzung-Chien Hsieh ,
Aviram Bar-Haim ,
Shahida Moosa ,
Nadja Ehmke,
Karen W. Gripp,
Jean Tori Pantel ,
Magdalena Danyel,
Martin Atta Mensah,
Denise Horn,
Stanislav Rosnev ,
Nicole Fleischer,
Guilherme Bonini,
Alexander Hustinx,
Alexander Schmid,
Alexej Knaus
and 32 other authors
,
Aviram Bar-Haim ,
Shahida Moosa ,
Nadja Ehmke,
Karen W. Gripp,
Jean Tori Pantel ,
Magdalena Danyel,
Martin Atta Mensah,
Denise Horn,
Stanislav Rosnev ,
Nicole Fleischer,
Guilherme Bonini,
Alexander Hustinx,
Alexander Schmid,
Alexej Knaus
and 32 other authors
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
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2021
Meena Balasubramanian,
Alexander J. M. Dingemans,
Shadi Albaba,
Ruth Richardson,
Thabo M. Yates ,
Helen Cox,
Sofia Douzgou,
Ruth Armstrong,
Francis H. Sansbury ,
Katherine B. Burke,
Andrew E. Fry ,
Nicola Ragge,
Saba Sharif,
Alison Foster,
Annachiara De Sandre-Giovannoli
and 24 other authors
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,
Helen Cox,
Sofia Douzgou,
Ruth Armstrong,
Francis H. Sansbury ,
Katherine B. Burke,
Andrew E. Fry ,
Nicola Ragge,
Saba Sharif,
Alison Foster,
Annachiara De Sandre-Giovannoli
and 24 other authors
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2020
Lachlan A. Jolly ,
Euan Parnell ,
Alison E. Gardner,
Mark A. Corbett ,
Luis A. Pérez-Jurado ,
Marie Shaw,
Gaetan Lesca ,
Catherine Keegan,
Michael C. Schneider,
Emily Griffin,
Felicitas Maier,
Courtney Kiss,
Andrea Guerin,
Kathleen Crosby,
Kenneth Rosenbaum
and 18 other authors
,
Euan Parnell ,
Alison E. Gardner,
Mark A. Corbett ,
Luis A. Pérez-Jurado ,
Marie Shaw,
Gaetan Lesca ,
Catherine Keegan,
Michael C. Schneider,
Emily Griffin,
Felicitas Maier,
Courtney Kiss,
Andrea Guerin,
Kathleen Crosby,
Kenneth Rosenbaum
and 18 other authors
Missense variant contribution to USP9X-female syndrome
Download from www.nature.com
Benjamin Cogné ,
Jamal-Eddine Bouameur,
Gaëlle Hayot,
Xenia Latypova,
Sundararaghavan Pattabiraman,
Amandine Caillaud ,
Karim Si-Tayeb ,
Thomas Besnard,
Sébastien Küry ,
Caroline Chariau,
Anne Gaignerie,
Laurent David,
Philippe Bordure,
Daniel Kaganovich,
Stéphane Bézieau
and 3 other authors
,
Jamal-Eddine Bouameur,
Gaëlle Hayot,
Xenia Latypova,
Sundararaghavan Pattabiraman,
Amandine Caillaud ,
Karim Si-Tayeb ,
Thomas Besnard,
Sébastien Küry ,
Caroline Chariau,
Anne Gaignerie,
Laurent David,
Philippe Bordure,
Daniel Kaganovich,
Stéphane Bézieau
and 3 other authors
A dominant vimentin variant causes a rare syndrome with premature aging
Download from www.nature.com
2018
Atg T. G. Chiu,
Slc L. C. Pei,
Ccy C. Y. Mak,
Gkc K. C. Leung,
Mhc H. C. Yu,
Sl L. Lee,
M. Vreeburg,
T. M.‐T-T. Frederic,
R. Pfundt,
S. Nambot ,
I. van der Burgt,
L. Faivre,
A.‐L-L. Bruel ,
T. Kleefstra,
M. Rossi
and 7 other authors
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,
I. van der Burgt,
L. Faivre,
A.‐L-L. Bruel ,
T. Kleefstra,
M. Rossi
and 7 other authors
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2016
Bertrand Isidor,
Sébastien Küry ,
Jill A. Rosenfeld,
Thomas Besnard ,
Sébastien Schmitt,
Shelagh Joss,
Sally J. Davies,
Robert Roger Lebel,
Alex Henderson,
Christian P. Schaaf,
Haley E. Streff,
Yaping Yang,
Vani Jain,
Nodoka Chida,
Xenia Latypova
and 21 other authors
Download from hal-univ-rennes1.archives-ouvertes.fr
,
Jill A. Rosenfeld,
Thomas Besnard ,
Sébastien Schmitt,
Shelagh Joss,
Sally J. Davies,
Robert Roger Lebel,
Alex Henderson,
Christian P. Schaaf,
Haley E. Streff,
Yaping Yang,
Vani Jain,
Nodoka Chida,
Xenia Latypova
and 21 other authors
Download from hal-univ-rennes1.archives-ouvertes.fr
Slavé Petrovski,
Sébastien Kury ,
Kwame Anyane-Yeboa,
Candace T. Myers,
Benjamin Cogné,
Martin Bialer,
Fan Xia,
Parisa Hemati,
James Riviello,
Thomas Besnard ,
Michele Mehaffey,
Emily Becraft,
Anya Revah Politi,
Alexandrea Wadley,
Sophie Colombo
and 31 other authors
Download from doi.org
,
Kwame Anyane-Yeboa,
Candace T. Myers,
Benjamin Cogné,
Martin Bialer,
Fan Xia,
Parisa Hemati,
James Riviello,
Thomas Besnard ,
Michele Mehaffey,
Emily Becraft,
Anya Revah Politi,
Alexandrea Wadley,
Sophie Colombo
and 31 other authors
Download from doi.org
2015
Kym M. Boycott,
Chandree L. Beaulieu,
Kristin D. Kernohan,
Ola H. Gebril,
Aziz Mhanni,
Albert E. Chudley,
David Redl,
Wen Qin,
Sarah Hampson,
Sébastien Küry ,
Martine Tetreault,
Erik G. Puffenberger,
James N. Scott,
Stéphane Bezieau,
André Reis
and 11 other authors
Download from www.ncbi.nlm.nih.gov
,
Martine Tetreault,
Erik G. Puffenberger,
James N. Scott,
Stéphane Bezieau,
André Reis
and 11 other authors
Download from www.ncbi.nlm.nih.gov
Sandra Mercier,
Sébastien Küry ,
Flora Bréh,
Armelle Magot,
Emmanuelle Salort-Campana,
Uchenna Agbim,
Thomas Besnard ,
Nathalie Bodak,
Chantal Bou-Hanna,
Florence Caillon,
Flora Bréhéret,
Brigitte Chabrol,
Perrine Brunelle,
Valérie Cormier-Daire ,
Albert David
and 42 other authors
Download from doi.org
,
Flora Bréh,
Armelle Magot,
Emmanuelle Salort-Campana,
Uchenna Agbim,
Thomas Besnard ,
Nathalie Bodak,
Chantal Bou-Hanna,
Florence Caillon,
Flora Bréhéret,
Brigitte Chabrol,
Perrine Brunelle,
Valérie Cormier-Daire ,
Albert David
and 42 other authors
Download from doi.org
Mathieu Lemire,
Conghui Qu,
Lenora W. M. Loo,
Syed H. E. Zaidi,
Hansong Wang,
Sonja I. Berndt,
Stéphane Bézieau,
Hermann Brenner,
Peter T. Campbell,
Andrew T. Chan,
Jenny Chang-Claude,
Mengmeng Du,
Christopher K. Edlund,
Steven Gallinger,
Robert W. Haile
and 29 other authors
A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1
Download from europepmc.org
Fredrick R. Schumacher,
Stephanie L. Schmit,
Shuo Jiao,
Christopher K. Edlund,
Hansong Wang,
Ben Zhang,
Li Hsu,
Shu-Chen Huang,
Christopher P. Fischer,
John F. Harju,
Gregory E. Idos,
Flavio Lejbkowicz,
Frank J. Manion ,
Kevin McDonnell,
Caroline E. McNeil
and 87 other authors
,
Kevin McDonnell,
Caroline E. McNeil
and 87 other authors
Genome-wide association study of colorectal cancer identifies six new susceptibility loci
Download from www.nature.com
Hamed Khalili,
L. Le Marchand,
Jian Gong,
Carolyn M. Hutter,
Brian Hernderson,
Hermann Brenner,
Thomas R. Austin,
Yoshifumi Baba,
John A. Baron,
Sonja I. Berndt,
Li Hsu,
Stéphane Bézieau,
Shuo Jiao,
Bette Caan,
Peter T. Campbell
and 49 other authors
Download from academic.oup.com
Sébastien Küry ,
Vincent Ramaekers,
Stéphane Bezieau,
Barry Wolf
,
Vincent Ramaekers,
Stéphane Bezieau,
Barry Wolf
Clinical utility gene card for: Biotinidase deficiency-update 2015
Download from www.nature.com
Chantal Bou-Hanna,
Anne Jarry,
Laurence Lode,
Ingo Schmitz,
Sébastien Kury ,
Klaus Schulze-Osthoff,
Stéphane Bezieau,
Jean-François Mosnier,
Christian L. Laboisse
Download from dx.doi.org
,
Klaus Schulze-Osthoff,
Stéphane Bezieau,
Jean-François Mosnier,
Christian L. Laboisse
Download from dx.doi.org
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