Patrick Revy

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 21

Top Venues

Cells

Human molecular genetics

Blood

Nature communications

This page only lists publications with an associated author ORCID identifier.

Publications

Sophie de Tocqueville, Emmanuel Martin, Quentin Riller, Laëtitia Kermasson, Benoit France, Aude Magérus, Frédéric Rieux-Laucat, François Delhommeau, Pierre Hirsch, Aurore Touzart, Aude Echalier, Alain Fischer, Despina Moshous, Patrick Revy
Long-term assessment of haematological recovery following somatic genetic rescue in a MYSM1-deficient patient: Implications for in vivo gene therapy. British journal of haematology (2024)
Alexis Bertrand, Ibrahima Ba, Laëtitia Kermasson, Vithura Pirabakaran, Noémie Chable, Elodie Lainey, Christelle Ménard, Faten Kallel, Capucine Picard, Sondes Hadiji, Nathalie Coolen-Allou, Elodie Blanchard, Jean-Pierre de Villartay, Despina Moshous, Marie Roelens, Isabelle Callebaut, Caroline Kannengiesser, Patrick Revy
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders. Human molecular genetics 33 (7) (2024)
Alexis Bertrand, Ibrahima Ba, Laëtitia Kermasson, Vithura Pirabakaran, Noémie Chable, Elodie Lainey, Christelle Ménard, Faten Kallel, Capucine Picard, Sondes Hadiji, Nathalie Coolen-Allou, Elodie Blanchard, Jean-Pierre de Villartay, Despina Moshous, Marie Roelens, Isabelle Callebaut, Caroline Kannengiesser, Patrick Revy
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders. Human molecular genetics 33 (7) (2024)
Alexis Bertrand, Ibrahima Ba, Laëtitia Kermasson, Vithura Pirabakaran, Noémie Chable, Elodie Lainey, Christelle Ménard, Faten Kallel, Capucine Picard, Sondes Hadiji, Nathalie Coolen-Allou, Elodie Blanchard, Jean-Pierre de Villartay, Despina Moshous, Marie Roelens, Isabelle Callebaut, Caroline Kannengiesser, Patrick Revy
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders. Human molecular genetics 33 (7) (2024)
Alexis Bertrand, Ibrahima Ba, Laëtitia Kermasson, Vithura Pirabakaran, Noémie Chable, Elodie Lainey, Christelle Ménard, Faten Kallel, Capucine Picard, Sondes Hadiji, Nathalie Coolen-Allou, Elodie Blanchard, Jean-Pierre de Villartay, Despina Moshous, Marie Roelens, Isabelle Callebaut, Caroline Kannengiesser, Patrick Revy
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders. Human molecular genetics (2024)
Michael Schertzer, Laurent Jullien, André Luiz Pinto, Rodrigo T Calado, Patrick Revy, Arturo Londoño-Vallejo
Human RTEL1 Interacts with KPNB1 (Importin β) and NUP153 and Connects Nuclear Import to Nuclear Envelope Stability in S-Phase. Cells 12 (24) (2023)
Michael Schertzer, Laurent Jullien, André Luiz Pinto, Rodrigo T Calado, Patrick Revy, Arturo Londoño-Vallejo
Human RTEL1 Interacts with KPNB1 (Importin β) and NUP153 and Connects Nuclear Import to Nuclear Envelope Stability in S-Phase. Cells 12 (24) (2023)
Michael Schertzer, Laurent Jullien, André Luiz Pinto, Rodrigo T Calado, Patrick Revy, Arturo Londoño-Vallejo
Human RTEL1 Interacts with KPNB1 (Importin β) and NUP153 and Connects Nuclear Import to Nuclear Envelope Stability in S-Phase. Cells 12 (24) (2023)
Michael Schertzer, Laurent Jullien, André Luiz Pinto, Rodrigo T Calado, Patrick Revy, Arturo Londoño-Vallejo
Human RTEL1 Interacts with KPNB1 (Importin β) and NUP153 and Connects Nuclear Import to Nuclear Envelope Stability in S-Phase. Cells 12 (24) (2023)
Michael Schertzer, Laurent Jullien, André Luiz Pinto, Rodrigo T Calado, Patrick Revy, Arturo Londoño-Vallejo
Human RTEL1 Interacts with KPNB1 (Importin β) and NUP153 and Connects Nuclear Import to Nuclear Envelope Stability in S-Phase. Cells 12 (24) (2023)
Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford-Weiss, Frédéric Tores, Jean-Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter John Bond, Christine Bellanné-Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan John Warren, Patrick Revy
Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect. Nature communications 13 (1) (2022)
Patrick Revy, Caroline Kannengiesser, Alison A Bertuch
Genetics of human telomere biology disorders. Nature reviews. Genetics (2022)
Laëtitia Kermasson, Dimitri Churikov, Aya Awad, Riham Smoom, Elodie Lainey, Fabien Touzot, Séverine Audebert-Bellanger, Sophie Haro, Lauréline Roger, Emilia Costa, Maload Mouf, Adriana Bottero, Matias Oleastro, Chrystelle Abdo, Jean-Pierre de Villartay, Vincent Geli, Yehuda Tzfati, Isabelle Callebaut, Silvia Danielian, Gabriela Soares, Caroline Kannengiesser, Patrick Revy
Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects. Blood 139 (16) (2022)
Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford-Weiss, Frédéric Tores, Jean-Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter John Bond, Christine Bellanné-Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan John Warren, Patrick Revy
Somatic genetic rescue of a germline ribosome assembly defect. Nature communications 12 (1) (2021)
Patrick Revy, Jean Donadieu
EFL1 deficiency: a little is better than nothing. Blood 138 (21) (2021)
Richa Sharma, Sushree S Sahoo, Masayoshi Honda, Sophie L Granger, Charnise Goodings, Louis Sanchez, Axel Künstner, Hauke Busch, Fabian Beier, Shondra M Pruett-Miller, Marcus Valentine, Alfonso Gonzalez Fernandez, Ti-Cheng Chang, Vincent Geli, Dimitri Churikov, Sandrine Hirschi, Victor B Pastor, Melanie Börries, Melchior Lauten, Charikleia Kelaidi, Marcin W Wlodarski, Megan Anne Cooper, Sarah K Nicholas, Jill Anne Rosenfeld, Sophia Polychronopoulou, Caroline Kannengiesser, Carole Saintomé, Charlotte M Niemeyer, Patrick Revy, Marc S Wold, Maria Spies, Miriam Erlacher, Stephane Coulon
Gain-of-Function Mutations in RPA1 Cause a Syndrome with Short Telomeres and Somatic Genetic Rescue. Blood (2021)
Anna Sole, Sandrine Grossetête, Maxime Heintzé, Loelia Babin, Sakina Zaïdi, Patrick Revy, Benjamin Renouf, Anne De Cian, Carine Giovannangeli, Cécile Pierre-Eugène, Isabelle Janoueix-Lerosey, Lucile Couronné, Sophie Kaltenbach, Mark Tomishima, Maria Jasin, Thomas G P Grünewald, Olivier Delattre, Didier Surdez, Erika Brunet
Unraveling Ewing Sarcoma Tumorigenesis Originating from Patient-Derived Mesenchymal Stem Cells. Cancer research 81 (19) (2021)
Shengjiang Tan, Laëtitia Kermasson, Angela Hoslin, Pekka Jaako, Alexandre Faille, Abraham Acevedo-Arozena, Etienne Lengline, Dana Ranta, Maryline Poirée, Odile Fenneteau, Hubert Ducou le Pointe, Stefano Fumagalli, Blandine Beaupain, Patrick Nitschké, Christine Bôle-Feysot, Jean-Pierre de Villartay, Christine Bellanné-Chantelot, Jean Donadieu, Caroline Kannengiesser, Alan John Warren, Patrick Revy
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome. Blood 134 (3) (2019)
Matthieu Gratia, Mathieu Paul Rodero, Cécile Conrad, Elias Bou Samra, Mathieu Maurin, Gillian I Rice, Darragh Duffy, Patrick Revy, Florence Petit, Russell C Dale, Yanick J Crow, Mounira Amor-Gueret, Nicolas Manel
Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS. The Journal of experimental medicine 216 (5) (2019)
Patrick Revy, Caroline Kannengiesser, Alain Fischer
Somatic genetic rescue in Mendelian haematopoietic diseases. Nature reviews. Genetics 20 (10) (2019)
Maname Benyelles, Harikleia Episkopou, Marie-Françoise O'Donohue, Laëtitia Kermasson, Pierre Frange, Florian Poulain, Fatma Burcu Belen, Meltem Polat, Christine Bole-Feysot, Francina Langa-Vives, Pierre-Emmanuel Gleizes, Jean-Pierre de Villartay, Isabelle Callebaut, Anabelle Decottignies, Patrick Revy
Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models. EMBO molecular medicine 11 (7) (2019)

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Publication Activity (10 Years)

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Patrick Revy