Sökresultat - Mathieu Quinodoz

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  1. 1
    DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders

    DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders av Mathieu Quinodoz, Béryl Royer‐Bertrand, Katarina Cisarova, Silvio Alessandro Di Gioia, Andrea Superti‐Furga, Carlo Rivolta

    Publicerad 2017
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  2. 2
    Fast and highly sensitive full-length single-cell RNA sequencing using FLASH-seq

    Fast and highly sensitive full-length single-cell RNA sequencing using FLASH-seq av Vincent Hahaut, Dinko Pavlinić, Walter Carbone, Sven Schuierer, Pierre Balmer, Mathieu Quinodoz, Magdalena Renner, Guglielmo Roma, Cameron S. Cowan, Simone Picelli

    Publicerad 2022
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  3. 3
    Generation of a Double Reporter mES Cell Line to Simultaneously Trace the Generation of Retinal Progenitors and Photoreceptors

    Generation of a Double Reporter mES Cell Line to Simultaneously Trace the Generation of Retinal Progenitors and Photoreceptors av Oleksandr Zabiegalov, Adeline Berger, Dhryata Kamdar, Kabirou Adamou, Chuanxi Tian, Martial Mbefo, Mathieu Quinodoz, Florian Udry, Carlo Rivolta, Corinne Kostic, Yvan Arsenijévic

    Publicerad 2025
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  4. 4
    Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

    Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity av Mathieu Quinodoz, Virginie G. Peter, Katarina Cisarova, Béryl Royer‐Bertrand, Peter D. Stenson, D.N. Cooper, Sheila Unger, Andrea Superti‐Furga, Carlo Rivolta

    Publicerad 2022
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  5. 5
    Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasis

    Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasis av Giulia Fregni, Mathieu Quinodoz, Emely Möller, Joanna Vuille, Sabine Galland, Carlo Fusco, Patricia Martin, Igor Letovanec, Paolo Provero, Carlo Rivolta, Nicolò Riggi, Ivan Stamenkovic

    Publicerad 2018
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  6. 6
    The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis

    The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis av Virginie G. Peter, Karolina Kamińska, Cristina Santos, Mathieu Quinodoz, Francesca Cancellieri, Katarina Cisarova, Rosanna Pescini Gobert, Raquel Rodrigues, Sónia Custódio, Liliana P Paris, Ana Berta Sousa, Luísa Coutinho Santos, Carlo Rivolta

    Publicerad 2023
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  7. 7
    Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1

    Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1 av Kristina Heß, Georg Ansari, Stephan Michels, Chantal Dysli, Sandra Liakopoulos, Jana Burghaus-Zhang, Mayss Al‐Sheikh, Justus G. Garweg, Mathieu Quinodoz, Karolina Kamińska, Francesca Cancellieri, Carlo Rivolta, Sharon F. Terry, Nicolas Feltgen, Maximilian Pfau

    Publicerad 2025
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  8. 8
    AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

    AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data av Mathieu Quinodoz, Virginie G. Peter, Nicola Bedoni, Béryl Royer Bertrand, Katarina Cisarova, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Mehran Piran, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Ana Berta Sousa, Luísa Coutinho Santos, Andrea Superti‐Furga, Carlo Rivolta

    Publicerad 2021
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  9. 9
    CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels

    CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels av André Brás Gonçalves, Sarah Kirstine Hasselbalch, Beinta Biskopstø Joensen, Sebastian Patzke, Pernille Martens, Signe Krogh Ohlsen, Mathieu Quinodoz, Konstantinos Nikopoulos, Reem Suleiman, Magnus Per Damsø Jeppesen, Catja Weiss, Søren T. Christensen, Carlo Rivolta, Jens Andersen, Pietro Farinelli, Lotte B. Pedersen

    Publicerad 2021
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  10. 10
    A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort

    A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort av Mukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz, Abdur Rashid, Francesca Cancellieri, Asad Munir, Karolina Kamińska, Afia Iqbal, Samra Javed, Muhammad Dawood, Hafiz Muhammad Azhar Baig, Shamim Saleha, Shagufta Naz, Humera Kausar, Ali Muhammad Waryah, Andrea Superti‐Furga, Muhammad Ansar, Carlo Rivolta

    Publicerad 2025
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  11. 11
    The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

    The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene av Virginie G. Peter, Mathieu Quinodoz, Jorge Pinto‐Basto, Sérgio B. Sousa, Silvio Alessandro Di Gioia, Gabriela Soares, Gabriela Ferraz Leal, Eduardo Silva, Rosanna Pescini Gobert, Noriko Miyake, Naomichi Matsumoto, Elizabeth C. Engle, Sheila Unger, Frederic Shapiro, Andrea Superti‐Furga, Carlo Rivolta, Belinda Campos‐Xavier

    Publicerad 2019
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  12. 12
    Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected Patients

    Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected Patients av Stéphanie Bibert, Nicolas Guex, João Lourenço, Thomas Brahier, Matthaios Papadimitriou‐Olivgeris, Lauro Damonti, Oriol Manuel, Robin Liechti, Lou Götz, Jonathan Tschopp, Mathieu Quinodoz, Péter Vollenweider, Jean‐Luc Pagani, Mauro Oddo, Olivier Hügli, Frédéric Lamoth, Véronique Erard, Cathy Voide, Mauro Delorenzi, Nathalie Rufer, Fabio Candotti, Carlo Rivolta, Noémie Boillat‐Blanco, Pierre‐Yves Bochud

    Publicerad 2021
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  13. 13
    Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

    Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies av Malena Daich Varela, James Bellingham, Fabiana Louise Motta, Neringa Jurkutė, Jamie M. Ellingford, Mathieu Quinodoz, Kathryn Oprych, Michael Niblock, Lucas Janeschitz‐Kriegl, Karolina Kamińska, Francesca Cancellieri, Hendrik P. N. Scholl, Eva Lenassi, Elena Schiff, Hannah Knight, Graeme Black, Carlo Rivolta, Michael E. Cheetham, Michel Michaelides, Omar A. Mahroo, Anthony T. Moore, Andrew R. Webster, Gavin Arno

    Publicerad 2022
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  14. 14
    Early onset non-syndromic retinal degeneration due to variants in <i>INPP5E:</i> phenotypic expansion of the ciliary gene previously associated with Joubert syndrome

    Early onset non-syndromic retinal degeneration due to variants in <i>INPP5E:</i> phenotypic expansion of the ciliary gene previously associated with Joubert syndrome av Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba‐Abbad, Emily Place, Naomi E. Wagner, Anne B. Fulton, Luísa Coutinho Santos, Boris Rosin, Vincent Dunet, Alaa AlTalbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Michaelides, Tamar Ben‐Yosef, Eric A. Pierce, Carlo Rivolta, Andrew R. Webster, Gavin Arno, Dror Sharon, Rachel M. Huckfeldt, Kinga M. Bujakowska

    Publicerad 2020
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  15. 15
    <i>GPATCH11</i>variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

    <i>GPATCH11</i>variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment av Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nathalie Boddaert, Sylvain Briault, Ange‐Line Bruel, Cyril Gitiaux, Karolina Kamińska, Nicole Philip-Sarles, Mathieu Quinodoz, Cristina Santos, Luísa Coutinho Santos, Sabine Sigaudy, Mariana Soeiro, Ana Berta Sousa, Christel Thauvin, Carlo Rivolta, Josseline Kaplan, Jean‐Michel Rozet, Isabelle Perrault

    Publicerad 2023
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  16. 16
    GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

    GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment av Isabelle Perrault, Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nathalie Boddaert, Sylvain Briault, Ange‐Line Bruel, Cyril Gitiaux, Karolina Kamińska, Nicole Philip-Sarles, Mathieu Quinodoz, Christina Santos, Luísa Coutinho Santos, Sabine Sigaudy, Mariana Soeiro, Ana Berta Sousa, Christel Thauvin, Josseline Kaplan, Carlo Rivolta, Jean‐Michel Rozet

    Publicerad 2023
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  17. 17
    Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator

    Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator av Lila Allou, Sara Balzano, Andreas Magg, Mathieu Quinodoz, Béryl Royer‐Bertrand, Robert Schöpflin, Wing-Lee Chan, Carlos E. Speck‐Martins, Daniel R. Carvalho, Luciano Farage, Charles Marques Lourenço, Regina Albuquerque, Srilakshmi Rajagopal, Sheela Nampoothiri, Belinda Campos‐Xavier, Carole Chiesa, Florence Niel‐Bütschi, Lars Wittler, Bernd Timmermann, Malte Spielmann, Michael I. Robson, Alessa R. Ringel, Verena Heinrich, Giulia Cova, Guillaume Andrey, Cesar A. Prada‐Medina, Rosanna Pescini Gobert, Sheila Unger, Luisa Bonafé, Phillip Grote, Carlo Rivolta, Stefan Mundlos, Andrea Superti‐Furga

    Publicerad 2021
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  18. 18
    High-efficiency base editing in the retina in primates and human tissues

    High-efficiency base editing in the retina in primates and human tissues av Alissa Muller, Jack M. Sullivan, Wibke Schwarzer, Mantian Wang, Cindy Park‐Windhol, Pascal W. Hasler, Lucas Janeschitz‐Kriegl, Mert Duman, Beryll Klingler, Jane Matsell, Simon Manuel Hostettler, Patricia Galliker, Yanyan Hou, Pierre Balmer, Tamás Virág, Luis Barrera, Lauren Young, Quan Xu, Dániel Péter Magda, Ferenc Kilin, Arogya Khadka, Pierre‐Henri Moreau, Lyne Fellmann, Thierry Azoulay, Mathieu Quinodoz, Duygu Karademir, Jan Leppert, Alex Fratzl, Georg Kosche, Ruchi Sharma, Jair Montford, Marco Cattaneo, Mikaël Croyal, Thérèse Cronin, Simone Picelli, Alice Grison, Cameron S. Cowan, Ákos Kusnyerik, Philipp Anders, Magdalena Renner, Zoltán Zsolt Nagy, Arnold Szabó, Kapil Bharti, Carlo Rivolta, Hendrik P. N. Scholl, David I. Bryson, Giuseppe Ciaramella, Botond Roska, Bence György

    Publicerad 2025
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  19. 19
    Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

    Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative av Guillaume Butler‐Laporte, Gundula Povysil, Jack A. Kosmicki, Elizabeth T. Cirulli, Theodore G. Drivas, Simone Furini, Chadi Saad, Axel Schmidt, Pawel Olszewski, Urszula Korotko, Mathieu Quinodoz, Elifnaz Çelik, Kousik Kundu, Klaudia Walter, Junghyun Jung, Amy Stockwell, Laura Sloofman, Daniel M. Jordan, Ryan C. Thompson, Diane M. Del Valle, Nicole W. Simons, Esther Cheng, Robert Sebra, Eric E. Schadt, Seunghee Kim‐Schulze, Sacha Gnjatic, Miriam Mérad, Joseph D. Buxbaum, Noam D. Beckmann, Alexander W. Charney, Bartlomiej Przychodzen, Timothy S. Chang, Tess D. Pottinger, Ning Shang, Fabian Brand, Francesca Fava, Francesca Mari, Karolina Chwiałkowska, Magdalena Niemira, Szymon Puła, J. Kenneth Baillie, Alexander Stuckey, Antonio Salas, Xabier Bello, Jacobo Pardo‐Seco, Alberto Gómez‐Carballa, Irene Rivero‐Calle, Federico Martinón‐Torres, Andrea Ganna, Konrad J. Karczewski, Kumar Veerapen, Mathieu Bourgey, Guillaume Bourque, Robert Eveleigh, Vincenzo Forgetta, David Morrison, David Langlais, Mark Lathrop, Vincent Mooser, Tomoko Nakanishi, Robert Frithiof, Michael Hultström, Miklós Lipcsey, Yanara Marincevic-Zuniga, Jessica Nordlund, Kelly M. Schiabor Barrett, William Lee, Alexandre Bolze, Simon White, Stephen Riffle, Francisco Tanudjaja, Efren Sandoval, Iva Neveux, Shaun Dabe, Nicolas Casadei, Susanne Motameny, Manal Alaamery, Salam Massadeh, Nora Aljawini, Mansour Almutairi, Yaseen M. Arabi, Saleh A. Alqahtani, Fawz S. Al Harthi, Amal Almutairi, Fatima Alqubaishi, Sarah Alotaibi, Albandari Binowayn, Ebtehal Alsolm, Hadeel El Bardisy, Mohammad Fawzy, Fang Cai, Nicole Soranzo, Adam S. Butterworth, Daniel H. Geschwind, Stephanie A. Arteaga, Alexis Stephens, Manish J. Butte, Paul C. Boutros, Takafumi N. Yamaguchi, Shu Tao

    Publicerad 2022
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  20. 20
    Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

    Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations av Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra, Anna Alkelai, Stylianos E. Antonarakis, Isis Atallah, Omer Bar‐Yosef, Frédéric Bilan, Kathrine Bjørgo, Xavier Blanc, Patrick Van Bogaert, Yoav Bolkier, Lindsay C. Burrage, Björn Christ, Jorge L. Granadillo, Patricia Dickson, Kirsten A. Donald, Christèle Dubourg, Aviva Eliyahu, Lisa Emrick, Kendra Engleman, Michaela Veronika Gonfiantini, Jean‐Marc Good, Judith Kalser, Chiara Kloeckner, Guus Lachmeijer, Marina Macchiaiolo, Francesco Nicita, Sylvie Odent, Emily O’Heir, Xilma R. Ortiz‐González, Marta Pacio‐Míguez, María Palomares‐Bralo, Loren D.M. Peña, Konrad Platzer, Mathieu Quinodoz, Emmanuelle Ranza, Jill A. Rosenfeld, Eliane Roulet‐Perez, Avni Santani, Fernando Santos‐Simarro, Ben Pode‐Shakked, Cara Skraban, Rachel Slaugh, Andrea Superti‐Furga, Isabelle Thiffault, Richard H. van Jaarsveld, Marie Vincent, Hong‐Gang Wang, Pia Zacher, Mercedes E. Alejandro, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Hsiao‐Tuan Chao, Gary Clark, William J. Craigen, Hongzheng Dai, Shweta U. Dhar, Lisa Emrick, Alica M. Goldman, Neil A. Hanchard, Fariha Jamal, Lefkothea Karaviti, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Ronit Marom, Paolo Moretti, David R. Murdock, Sarah K. Nicholas, James P. Orengo, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Susan L. Samson, Daryl A. Scott, Alyssa A. Tran, Tiphanie P. Vogel, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Pengfei Liu, Patricia A. Ward, Edward M. Behrens, Matthew A. Deardorff, Marni J. Falk, Kelly Hassey, Kathleen Sullivan, Adeline Vanderver, David B. Goldstein, Heidi Cope, Allyn McConkie‐Rosell, Kelly Schoch, Vandana Shashi, Edward C. Smith

    Publicerad 2021
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