Ngā hua rapu - Pascal Joset

Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia–telangiectasia mutated gene) mā Reza Asadollahi, Christian Britschgi, Pascal Joset, Beatrice Oneda, Detlev Schindler, Urs R. Meier, Anita Rauch

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Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort mā Dennis Kraemer, Silvia Azzarello-Burri, Katharina Steindl, Paranchai Boonsawat, Markus Zweier, Konstantin J. Dedes, Pascal Joset, Daniel Fink, Anita Rauch

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The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies mā Anna Grether, Ivan Ivanovski, Martina Russo, Anaïs Begemann, Katharina Steindl, Lucia Abela, Michael Papik, Markus Zweier, Beatrice Oneda, Pascal Joset, Anita Rauch

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Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders mā Paranchai Boonsawat, Anselm H. C. Horn, Katharina Steindl, Alessandra Baumer, Pascal Joset, Dennis Kraemer, Angela Bahr, Ivan Ivanovski, Elena M. Cabello, Michael Papik, Markus Zweier, Beatrice Oneda, Pietro Sirleto, Tilo Burkhardt, Heinrich Sticht, Anita Rauch

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Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture mā Neftalí Vazquez, Chanjae Lee, Irene Valenzuela, Thao P. Phan, Camille Derderian, Marcelo Chávez, Nancie A. Mooney, Janos Demeter, Mohammad Ovais Aziz-Zanjani, Ivon Cusco, Marta Codina, Núria Martínez-Gil, Diana Valverde, Carlos Solarat, Ange-Line Bruel, Cristel Thauvin-Robinet, Elisabeth Steichen, Isabel Filges, Pascal Joset, Julie De Geyter, Krishna Vaidyanathan, Tynan P. Gardner, Michinori Toriyama, Edward M. Marcotte, Kevin Drew, Elle C. Roberson, Peter K. Jackson, Jeremy F. Reiter, Eduardo F. Tizzano, John B. Wallingford

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The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture mā Neftalí Vazquez, Chanjae Lee, Irene Valenzuela, Thao P. Phan, Camille Derderian, Marcelo Chávez, Nancie A. Mooney, Janos Demeter, Mohammad Ovais Aziz-Zanjani, Ivon Cusco, Marta Codina, Núria Martínez-Gil, Diana Valverde, Carlos Solarat, Ange-Line Bruel, Cristel Thauvin-Robinet, Elisabeth Steichen, Isabel Filges, Pascal Joset, Julie De Geyter, Krishna Vaidyanathan, Tynan P. Gardner, Michinori Toriyama, Edward M. Marcotte, Kevin Drew, Elle C. Roberson, Peter K. Jackson, Jeremy F. Reiter, Eduardo F. Tizzano, John B. Wallingford

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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition mā Ghayda M. Mirzaa, Keqin Yan, Raissa Relator, Mathieu Levesque, Pranisha Jayasinghe, Sara Timpano, Binnaz Yalcin, Stephan Collins, Alban Ziegler, Emily Pao, Nora Oyama, Elise Brischoux-Boucher, Juliette Piard, Kristin G. Monaghan, Maria. J. Guillen Sacoto, William B. Dobyns, Kristen L. Park, Daniel Martin Fernández-Mayoralas, Alberto Fernández-Jaén, Parul Jayakar, María Palomares-Bralo, Fernando Santos-Simarro, Alfredo Brusco, Vincenzo Antona, Elisa Giorgio, Malin Kvarnung, Bertrand Isidor, Solène Conrad, Benjamin Cogné, Wallid Deb, Kyra E. Stuurman, Katalin Štěrbová, Noor Smal, Sarah Weckhuysen, Renske Oegema, A. Micheil Innes, Daniel. C. Koboldt, Tawfeg Ben-Omran, Rebecca C. Yeh, Michael C. Kruer, Somayeh Bakhtiari, Antigone Papavasiliou, Sébastien Moutton, Sophie Nambot, Sirisak Chanprasert, Sarah A. Paolucci, Kait Miller, Barbara Burton, Katherine Kim, Emily O’Heir, Zandre Bruwer, Kirsten. A. Donald, Tjitske Kleefstra, Amy Goldstein, Brad Angle, Kelly Bontempo, Peter Miny, Pascal Joset, Florence Demurger, Emma Hobson, Lewis Pang, Lori Carpenter, Dong Li, Dominique Bonneau, Bekim Sadikovic, David J. Picketts

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