Bruno Reversade (B Reversade)

ORCID

Publication Activity (10 Years)

Years Active: 2015-2023
Publications (10 Years): 44

Top Venues

Nature communications

EMBO molecular medicine

eLife

The British journal of dermatology

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

Publications

Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker-Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El-Khateeb, Rajaa Fathallah, Jean-Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande-Beillard, Andreas Mayer, Bruno Reversade
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing. EMBO molecular medicine (2023)
Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker-Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El-Khateeb, Rajaa Fathallah, Jean-Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande-Beillard, Andreas Mayer, Bruno Reversade
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing. EMBO molecular medicine 15 (2) (2023)
Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker-Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El-Khateeb, Rajaa Fathallah, Jean-Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande-Beillard, Andreas Mayer, Bruno Reversade
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing. EMBO molecular medicine 15 (2) (2023)
Hamdi Mbarek, Scott D Gordon, David L Duffy, Nikki Hubers, Sally Mortlock, Jeffrey J Beck, Jouke-Jan Hottenga, René Pool, Conor V Dolan, Ky'Era V Actkins, Zachary F Gerring, Jenny Van Dongen, Erik A Ehli, William G Iacono, Matt Mcgue, Daniel I Chasman, C Scott Gallagher, Samantha L P Schilit, Cynthia C Morton, Guillaume Paré, Gonneke Willemsen, David C Whiteman, Catherine M Olsen, Catherine Derom, Robert Vlietinck, Daniel Gudbjartsson, Lisa Cannon-Albright, Eva Krapohl, Robert Plomin, Patrik K E Magnusson, Nancy L Pedersen, Pirro G Hysi, Massimo Mangino, Timothy D Spector, Teemu Palviainen, Yuri Milaneschi, Brenda W Penninnx, Adrian I Campos, Ken K Ong, John R B Perry, Cornelis Nils Lambalk, Jaakko Kaprio, Ísleifur Ólafsson, Karine Duroure, Céline Revenu, Miguel E Rentería, Loic Yengo, Lea Davis, Eske M Derks, Sarah E Medland, Hreinn Stefansson, Kari Stefansson, Filippo Del Bene, Bruno Reversade, Grant W Montgomery, Dorret I Boomsma, Nicholas G Martin
Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity. Human reproduction (Oxford, England) (2023)
Mingfeng Li, Kenneth Lay, Andreas David Zimmer, Kristin Technau-Hafsi, Jasmine Wong, Antonia Reimer, Jan Rohr, Ebtesam Abdalla, Judith Fischer, Bruno Reversade, Cristina Has
A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings. The British journal of dermatology 188 (2) (2023)
Mingfeng Li, Kenneth Lay, Andreas David Zimmer, Kristin Technau-Hafsi, Jasmine Wong, Antonia Reimer, Jan Rohr, Ebtesam Abdalla, Judith Fischer, Bruno Reversade, Cristina Has
A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings. The British journal of dermatology 188 (2) (2023)
Camille Laberthonnière, Mégane Delourme, Raphaël Chevalier, Camille Dion, Benjamin Ganne, David Hirst, Leslie Caron, Pierre Perrin, José Adélaïde, Max Chaffanet, Shifeng Xue, Karine Nguyen, Bruno Reversade, Jérôme Déjardin, Anaïs Baudot, Jérôme D Robin, Frédérique Magdinier
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype. Nucleic acids research (2023)
Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker-Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El-Khateeb, Rajaa Fathallah, Jean-Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande-Beillard, Andreas Mayer, Bruno Reversade
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing. EMBO molecular medicine 15 (2) (2023)
Eva Hasel de Carvalho, Shivani S Dharmadhikari, Kateryna Shkarina, Jingwei Rachel Xiong, Bruno Reversade, Petr Broz, Maria Leptin
The Opto-inflammasome in zebrafish as a tool to study cell and tissue responses to speck formation and cell death. eLife 12 (2023)
Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker-Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El-Khateeb, Rajaa Fathallah, Jean-Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande-Beillard, Andreas Mayer, Bruno Reversade
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing. EMBO molecular medicine (2023)
Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker-Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El-Khateeb, Rajaa Fathallah, Jean-Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande-Beillard, Andreas Mayer, Bruno Reversade
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing. EMBO molecular medicine 15 (2) (2023)
Andres Tapia Del Fierro, Bianca den Hamer, Natalia Benetti, Natasha Jansz, Kelan Chen, Tamara Beck, Hannah Vanyai, Alexandra D Gurzau, Lucia Daxinger, Shifeng Xue, Thanh Thao Nguyen Ly, Iromi Wanigasuriya, Megan Iminitoff, Kelsey A Breslin, Harald Oey, Yvonne D Krom, Dinja van der Hoorn, Linde F Bouwman, Timothy M Johanson, Matthew E Ritchie, Quentin A Gouil, Bruno Reversade, Fabrice Prin, Timothy Mohun, Silvère M van der Maarel, Edwina McGlinn, James G Murphy, Andrew Keniry, Jessica C de Greef, Marnie E Blewitt
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease. Nature communications 14 (1) (2023)
Samantha Wong, Yu Xuan Tan, Abigail Yi Ting Loh, Kiat-Yi Tan, Hane Lee, Zainab Aziz, Stanley F Nelson, Engin Özkan, Hülya Kayserili, Nathalie Escande-Beillard, Bruno Reversade
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis. EMBO molecular medicine (2023)
Mingfeng Li, Kenneth Lay, Andreas David Zimmer, Kristin Technau-Hafsi, Jasmine Wong, Antonia Reimer, Jan Rohr, Ebtesam Abdalla, Judith Fischer, Bruno Reversade, Cristina Has
A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings. The British journal of dermatology 188 (2) (2023)
Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker-Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El-Khateeb, Rajaa Fathallah, Jean-Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande-Beillard, Andreas Mayer, Bruno Reversade
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing. EMBO molecular medicine 15 (2) (2023)
Franziska Paul, Calista Ng, Umar Bin Mohamad Sahari, Shahriar Nafissi, Yalda Nilipoor, Ali Reza Tavasoli, Carine Bonnard, Pui-Mun Wong, Nasrinsadat Nabavizadeh, Umut Altunoğlu, Mehrdad A Estiar, Charles B L M Majoie, Hane Lee, Stanley F Nelson, Ziv Gan Or, Guy A Rouleau, Paul P Van Veldhoven, Rami Massie, Raoul C Hennekam, Ariana Kariminejad, Bruno Reversade
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder. Human molecular genetics 31 (21) (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
Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect. Nature communications 13 (1) (2022)
Zeina R Al Sayed, Robin Canac, Bastien Cimarosti, Carine Bonnard, Jean-Baptiste Gourraud, Hanan Hamamy, Hulya Kayserili, Aurore Girardeau, Mariam Jouni, Nicolas Jacob, Anne Gaignerie, Caroline Chariau, Laurent David, Virginie Forest, Céline Marionneau, Flavien Charpentier, Gildas Loussouarn, Guillaume Lamirault, Bruno Reversade, Kazem Zibara, Patricia Lemarchand, Nathalie Gaborit
Human model of IRX5 mutations reveals key role for this transcription factor in ventricular conduction. Cardiovascular research 117 (9) (2022)
Shifeng Xue, Thanh Thao Nguyen Ly, Raunak S Vijayakar, Jingyi Chen, Joel Ng, Ajay S Mathuru, Frederique Magdinier, Bruno Reversade
HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring. Nature communications 13 (1) (2022)
Cassandra R Harapas, Kim Samirah Robinson, Kenneth Lay, Jasmine Wong, Ricardo Moreno Traspas, Nasrin Nabavizadeh, Annick Rass-Rothschild, Bertrand Boisson, Scott B Drutman, Pawat Laohamonthonkul, Devon Bonner, Jingwei Rachel Xiong, Mark D Gorrell, Sophia Davidson, Chien-Hsiung Yu, Mark Daniel Fleming, Jonas Gudera, Jerry Stein, Miriam Ben-Harosh, Emily Groopman, Akiko Shimamura, Hannah Tamary, Hülya Kayserili, Nevin Hatipoglu, Jean Laurent Casanova, Jonathan A Bernstein, Franklin Lei Zhong, Seth L Masters, Bruno Reversade
DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling. Science immunology 7 (75) (2022)
Tram Anh Nguyen, Jia Wei Joel Heng, Pornchai Kaewsapsak, Eng Piew Louis Kok, Dominik Stanojević, Hao Liu, Angelysia Cardilla, Albert Praditya, Zirong Yi, Mingwan Lin, Jong Ghut Ashley Aw, Yin Ying Ho, Esther Kai Lay Peh, Yuanming Wang, Qixing Zhong, Jacki E Heraud-Farlow, Shifeng Xue, Bruno Reversade, Carl R Walkley, Ying Swan Ho, Mile Šikić, Yue Wan, Meng How Tan
Direct identification of A-to-I editing sites with nanopore native RNA sequencing. Nature methods 19 (7) (2022)
Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stephane Bezieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hülya Kayserili, Kimberly A Kripps, Shareef A Nahas, Eric P Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogné, Aida Maria Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis. Nature genetics 54 (8) (2022)
Abigail Y T Loh, Sanja Špoljar, Granville Y W Neo, Nathalie Escande-Beillard, Marc Leushacke, Monique N H Luijten, Byrappa Venkatesh, Carine Bonnard, Maurice A M van Steensel, Henning Hamm, Andrew Carmichael, Neil Rajan, Thomas James Carney, Bruno Reversade
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome. American journal of medical genetics. Part A 188 (6) (2022)
Hyuk Nam Kwon, Kristen Kurtzeborn, Vladislav Iaroshenko, Xing Jin, Abigail Yi Ting Loh, Nathalie Escande-Beillard, Bruno Reversade, Sunghyouk Park, Satu Kuure
Omics profiling identifies the regulatory functions of the MAPK/ERK pathway in nephron progenitor metabolism. Development (Cambridge, England) 149 (19) (2022)
Lauren G Mascibroda, Mohammad Shboul, Nathan D Elrod, Laurence Colleaux, Hanan Hamamy, Kai-Lieh Huang, Natoya J Peart, Moirangthem Kiran Singh, Hane Lee, Barry Merriman, Jeanne N Jodoin, Poojitha Sitaram, Laura A Lee, Raja Fathalla, Baeth Moh'd Al-Rawashdeh, Osama Ababneh, Mohammad El-Khateeb, Nathalie Escande-Beillard, Stanley F Nelson, Yixuan Wu, Liang Tong, Linda J Kenney, Sudipto Roy, William K Russell, Jeanne Amiel, Bruno Reversade, Eric J Wagner
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex. Nature communications 13 (1) (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)
Emmanuelle Szenker-Ravi, Tim Ott, Muznah Khatoo, Anne Moreau de Bellaing, Wei Xuan Goh, Yan Ling Chong, Anja Beckers, Darshini Kannesan, Guillaume Louvel, Priyanka Anujan, Vydianathan Ravi, Carine Bonnard, Sebastien Moutton, Patric Schoen, Mélanie Fradin, Estelle Colin, Andre Megarbane, Linda Daou, Ghassan Chehab, Sylvie Di Filippo, Caroline Rooryck, Jean François Deleuze, Anne Boland-Auge, Nicolas Arribard, Rukiye Eker, Sumanty Tohari, Alvin Yu-Jin Ng, Marlène Rio, Chun Teck Lim, Birgit Eisenhaber, Frank Eisenhaber, Byrappa Venkatesh, Jeanne Amiel, Hugues Roest Crollius, Christopher T Gordon, Achim Gossler, Sudipto Roy, Tania Attie-Bitach, Martin Blum, Patrice Bouvagnet, Bruno Reversade
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates. Nature genetics 54 (1) (2021)
Qin Gong, Kim Robinson, Chenrui Xu, Phuong Thao Huynh, Kelvin Han Chung Chong, Eddie Yong Jun Tan, Jiawen Zhang, Zhao Zhi Boo, Daniel Eng Thiam Teo, Kenneth Lay, Yaming Zhang, John Soon Yew Lim, Wah Ing Goh, Graham Wright, Franklin Lei Zhong, Bruno Reversade, Bin Wu
Structural basis for distinct inflammasome complex assembly by human NLRP1 and CARD8. Nature communications 12 (1) (2021)
Tom Le Voyer, Anna-Lena Neehus, Rui Yang, Masato Ogishi, Jérémie Rosain, Fayhan Alroqi, Maha Alshalan, Philippe Lepage, Fatima Al Ali, Taushif Khan, Manar Mahmoud Ahmad Ata, Laurence Rozen, Anne Demulder, Paul Bastard, Conor Gruber, Manon Roynard, Yoann Seeleuthener, Franck Rapaport, Benedetta Bigio, Maya Chrabieh, Danielle Sng, Laureline Berteloot, Nathalie Boddaert, Flore Rozenberg, Saleh Al-Muhsen, Aida Maria Bertoli-Avella, Laurent Abel, Dusan Bogunovic, Nico Marr, Davood Mansouri, Fuad Al Mutairi, Vivien Béziat, Dominique Weil, Seyed Alireza Mahdaviani, Alina Ferster, Shen-Ying Zhang, Bruno Reversade, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Jacinta Bustamante
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease. Proceedings of the National Academy of Sciences of the United States of America 118 (15) (2021)
Abigail Yi Ting Loh, C M Ho, Siobhan Muthiah, Byrappa Venkatesh, Simon Zwolinski, A P J J Bray, Bruno Reversade, Neil Rajan, Thomas James Carney
Huriez syndrome caused by a large deletion that abrogates the skin-specific isoform of SMARCAD1. The British journal of dermatology 184 (6) (2021)
Jenny Van Dongen, Scott D Gordon, Allan F McRae, Veronika V Odintsova, Hamdi Mbarek, Charles E Breeze, Karen Sugden, Sara Lundgren, Juan E Castillo-Fernandez, Eilis J Hannon, Terrie E Moffitt, Fiona A Hagenbeek, Catharina E M van Beijsterveldt, Jouke- Jan Hottenga, Pei-Chien Tsai, null null, null null, Josine L Min, Gibran Hemani, Erik A Ehli, Franziska Paul, Claudio D Stern, Bastiaan T Heijmans, Pieternella Eline Slagboom, Lucia Daxinger, Silvère M van der Maarel, Eco J C N de Geus, Gonneke Willemsen, Grant W Montgomery, Bruno Reversade, Miina Ollikainen, Jaakko A Kaprio, Timothy D Spector, Jordana T Bell, Jonathan S Mill, Avshalom Caspi, Nicholas G Martin, Dorret I Boomsma
Identical twins carry a persistent epigenetic signature of early genome programming. Nature communications 12 (1) (2021)
Sahar Elouej, Karim Harhouri, Morgane Le Mao, Genevieve Baujat, Sheela Nampoothiri, Hülya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean François Deleuze, Agnes Rotig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande-Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre-Giovannoli
Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology. Nature communications 11 (1) (2020)
Shan Zhang, Boris Reljić, Chao Liang, Baptiste Kerouanton, Joel Celio Francisco, Jih Hou Peh, Camille Mary, Narendra Suhas Jagannathan, Volodimir Olexiouk, Claire Tang, Gio Fidelito, Srikanth Nama, Ruey-Kuang Cheng, Caroline Lei Wee, Loo Chien Wang, Paula Duek Roggli, Prabha Sampath, Lydie Lane, Enrico Petretto, Radoslaw Mikolaj Sobota, Suresh J Jesuthasan, Lisa Tucker-Kellogg, Bruno Reversade, Gerben Menschaert, Lei Sun, David Arthur Stroud, Lena Ho
Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assembly. Nature communications 11 (1) (2020)
Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M Marzouqa, Meral Gunay-Aygun, Michael J Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A A P Willemsen, Renske Oegema, Wendy G Mitchell, Tyler Mark Pierson, Marisa V Andrews, Marcia C Willing, Lance H Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M Tamim, Mais O Hashem, Moeenaldeen D AlSayed, Maha M Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A H Mahmoud, Eissa A Faqeih, Ali Al Asmari, Sulwan M Algain, Lamyaa A Jad, Hesham M Aldhalaan, Ingo Helbig, David A Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E Schultz-Rogers, Eric W Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A Pouladi, James C Stewart, Adam Claridge-Chang, Dirk J Lefeber, Fowzan Sami Alkuraya, Ajay S Mathuru, Byrappa Venkatesh, Joseph J Barycki, Melanie A Simpson, Saumya S Jamuar, Ludger Schöls, Bruno Reversade
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nature communications 11 (1) (2020)
Sahar Elouej, Karim Harhouri, Morgane Le Mao, Genevieve Baujat, Sheela Nampoothiri, Hülya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean François Deleuze, Agnes Rotig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande-Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre-Giovannoli
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology. Nature communications 11 (1) (2020)
Jamie Trott, Yunus Alpagu, Ee Kim Tan, Mohammad Shboul, Yousif Dawood, Michael Elsy, Heike Wollmann, Vincent Tano, Carine Bonnard, Shermaine Eng, Gunaseelan Narayanan, Seetanshu Junnarkar, Stephen Wearne, James Strutt, Aakash Kumar, Lucian B Tomaz, Pierre-Alexis Goy, Slim Mzoughi, Rachel Jennings, Jaco Hagoort, Ascia Eskin, Hane Lee, Stanley F Nelson, Fawaz Al-Kazaleh, Mohammad El-Khateeb, Rajaa Fathallah, Harsha Shah, Jonathan Goeke, Sarah R Langley, Ernesto Guccione, Neil Hanley, Bernadette S De Bakker, Bruno Reversade, Norris R Dunn
Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6. Development (Cambridge, England) 147 (21) (2020)
Valerie Pi Vidal, Fariba Jian-Motamedi, Samah Rekima, Elodie P Gregoire, Emmanuelle Szenker-Ravi, Marc Leushacke, Bruno Reversade, Marie-Christine Chaboissier, Andreas Schedl
R-spondin signalling is essential for the maintenance and differentiation of mouse nephron progenitors. eLife 9 (2020)
Kim Samirah Robinson, Daniel Eng Thiam Teo, Kai Sen Tan, Gee Ann Toh, Hsiao Hui Ong, Chrissie Kaishi Lim, Kenneth Lay, Bijin Veonice Au, Tian Sheng Lew, Justin Jang Hann Chu, Vincent Tak Kwong Chow, De Yun Wang, Franklin Lei Zhong, Bruno Reversade
Enteroviral 3C protease activates the human NLRP1 inflammasome in airway epithelia. Science (New York, N.Y.) 370 (6521) (2020)
Qin Gong, Ziqi Long, Franklin L Zhong, Daniel Eng Thiam Teo, Yibo Jin, Zhan Yin, Zhao Zhi Boo, Yaming Zhang, Jiawen Zhang, Renliang Yang, Shashi Bhushan, Bruno Reversade, Zongli Li, Bin Wu
Structural basis of RIP2 activation and signaling. Nature communications 9 (1) (2018)
Poh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F Nelson, William H Xie, Samah Al-Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A Pouladi, Mohammed Al-Raqad, Bruno Reversade
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability. eLife 7 (2018)
Christopher T Gordon, Shifeng Xue, Gökhan Yigit, Hicham Filali, Kelan Chen, Nadine Rosin, Koh-Ichiro Yoshiura, Myriam Oufadem, Tamara J Beck, Ruth McGowan, Alex C Magee, Janine Altmüller, Camille Dion, Holger Thiele, Alexandra D Gurzau, Peter Nürnberg, Dieter Meschede, Wolfgang Mühlbauer, Nobuhiko Okamoto, Vinod Varghese, Rachel Irving, Sabine Sigaudy, Denise Williams, Syed Faisal Ahmed, Carine Bonnard, Mung Kei Kong, Ilham Ratbi, Nawfal Fejjal, Meriem Fikri, Siham Chafai Elalaoui, Hallvard Reigstad, Christine Bole-Feysot, Patrick Nitschké, Nicola Ragge, Nicolas Lévy, Gökhan Tunçbilek, Audrey S M Teo, Michael L Cunningham, Abdelaziz Sefiani, Hülya Kayserili, James M Murphy, Chalermpong Chatdokmaiprai, Axel Maximilian Hillmer, Duangrurdee Wattanasirichaigoon, Stanislas Lyonnet, Frédérique Magdinier, Asif Javed, Marnie E Blewitt, Jeanne Amiel, Bernd Wollnik, Bruno Reversade
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nature genetics 49 (2) (2017)
Lena Ho, Marie van Dijk, Sam Tan Jian Chye, Daniel M Messerschmidt, Serene C Chng, Sheena Li Ming Ong, Ling Ka Yi, Souad Boussata, Grace Hui-Yi Goh, Gijs B Afink, Chin Yan Lim, Norris R Dunn, Davor Solter, Barbara B Knowles, Bruno Reversade
ELABELA deficiency promotes preeclampsia and cardiovascular malformations in mice. Science (New York, N.Y.) 357 (6352) (2017)
Mireia Perez-Camps, Jing Tian, Serene C Chng, Kai Pin Sem, Thankiah Sudhaharan, Cathleen Teh, Malte Wachsmuth, Vladimir Korzh, Sohail Ahmed, Bruno Reversade
Quantitative imaging reveals real-time Pou5f3-Nanog complexes driving dorsoventral mesendoderm patterning in zebrafish. eLife 5 (2016)
Ashish R Deshwar, Serene C Chng, Lena Ho, Bruno Reversade, Ian C Scott
The Apelin receptor enhances Nodal/TGFβ signaling to ensure proper cardiac development. eLife 5 (2016)
Robert Brown, Hane Lee, Ascia Eskin, Gleb Kichaev, Kirk E Lohmueller, Bruno Reversade, Stanley F Nelson, Bogdan Pasaniuc
Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders. European journal of human genetics : EJHG 24 (1) (2015)

Bruno Reversade.css-eqlu8i{font-size:small;padding-left:4px;} (B Reversade)

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Bruno Reversade (B Reversade)