检索结果 - Martin W. Breuss

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  1. 1
    Tubulins and brain development – The origins of functional specification

    Tubulins and brain development – The origins of functional specification 由 Martin W. Breuss, Ines Leca, Thomas Gstrein, Andi H. Hansen, David A. Keays

    出版 2017
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  2. 2
    Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective

    Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective 由 Rose M. Doss, Susana Lopez-Ignacio, Anna Dischler, Laurel Hiatt, Harriet Dashnow, Martin W. Breuss, Caroline Dias

    出版 2025
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  3. 3
    Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission

    Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission 由 Martin W. Breuss, Xiaoxu Yang, Valentina Stanley, Jennifer McEvoy‐Venneri, Xin Xu, Arlene J. Morales, Joseph G. Gleeson

    出版 2022
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  4. 4
    Author response: Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission

    Author response: Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission 由 Martin W. Breuss, Xiaoxu Yang, Valentina Stanley, Jennifer McEvoy‐Venneri, Xin Xu, Arlene J. Morales, Joseph G. Gleeson

    出版 2022
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  5. 5
    Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

    Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly 由 Martin W. Breuss, Tipu Sultan, Kiely N. James, Rasim Özgür Rosti, Eric Scott, Damir Musaev, Bansri Furia, André Reis, Heinrich Sticht, Mohammed Al‐Owain, Fowzan S. Alkuraya, Miriam S. Reuter, Rami Abou Jamra, Christopher R. Trotta, Joseph G. Gleeson

    出版 2016
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  6. 6
    Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain

    Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain 由 Changuk Chung, Xiaoxu Yang, Robert F. Hevner, Katie Kennedy, Keng Ioi Vong, Yang Liu, Arzoo Patel, Rahul Nedunuri, Scott T. Barton, Geoffroy Noël, Chelsea Barrows, Valentina Stanley, Swapnil Mittal, Martin W. Breuss, Johannes C. M. Schlachetzki, Stephen F. Kingsmore, Joseph G. Gleeson

    出版 2024
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  7. 7
    mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

    mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly 由 Camila Araújo Bernardino Garcia, Simone C. S. Carvalho, Xiaoxu Yang, Laurel Ball, Renee D. George, Kiely N. James, Valentina Stanley, Martin W. Breuss, Úrsula Thomé, Marcelo Volpon Santos, Fabiano Pinto Saggioro, Luciano Neder Serafini, Wilson A. Silva, Joseph G. Gleeson, Hélio Rubens Machado

    出版 2020
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  8. 8
    Developmental and temporal characteristics of clonal sperm mosaicism

    Developmental and temporal characteristics of clonal sperm mosaicism 由 Xiaoxu Yang, Martin W. Breuss, Xin Xu, Danny Antaki, Kiely N. James, Valentina Stanley, Laurel Ball, Renee D. George, Sara A. Wirth, Beibei Cao, An Nguyen, Jennifer McEvoy‐Venneri, Guoliang Chai, Shareef Nahas, Lucitia Van Der Kraan, Yan Ding, Jonathan Sebat, Joseph G. Gleeson

    出版 2021
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  9. 9
    Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

    Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities 由 Martin W. Breuss, Julian Ik‐Tsen Heng, Karine Poirier, Guoling Tian, Xavier H. Jaglin, Zhengdong Qu, Andreas Braun, Thomas Gstrein, Linh Ngo, Matilda Haas, Nadia Bahi‐Buisson, Marie‐Laure Moutard, Sandrine Passemard, Alain Verloès, Pierre Gressèns, Yunli Xie, Kathryn Robson, Deepa Selvi Rani, Kumarasamy Thangaraj, Tim Clausen, Jamel Chelly, Nicholas J. Cowan, David A. Keays

    出版 2012
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  10. 10
    Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

    Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type 由 Mala Isrie, Martin W. Breuss, Guoling Tian, Andi H. Hansen, Francesca Cristofoli, Jasmin Morandell, Zachari A. Kupchinsky, Alejandro Sifrim, Celia Maria Rodriguez-Rodriguez, Elena Porta Dapena, Kurston Doonanco, Norma Leonard, Faten Tinsa, Stéphanie Moortgat, Hakan Ulucan, Erkan Koparir, Ender Karaca, Nicholas Katsanis, Valeria Marton, Joris Vermeesch, Erica E. Davis, Nicholas J. Cowan, David A. Keays, Hilde Van Esch

    出版 2015
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  11. 11
    Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans

    Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans 由 Thomas Gstrein, Andrew Edwards, Anna Přistoupilová, Ines Leca, Martin W. Breuss, Sandra Pilat-Carotta, Andi H. Hansen, Ratna Tripathy, Anna K. Traunbauer, Tobias Hochstoeger, Gavril Rosoklija, Marco Repic, Lukas Landler, Viktor Stránecký, Gerhard Dürnberger, Thomas Keane, Johannes Zuber, David J. Adams, Jonathan Flint, Tomáš Honzík, Marta Gut, Sergi Beltrán, Karl Mechtler, Elliott H. Sherr, Stanislav Kmoch, Marta Gut, David A. Keays

    出版 2018
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  12. 12
    Autism risk in offspring can be assessed through quantification of male sperm mosaicism

    Autism risk in offspring can be assessed through quantification of male sperm mosaicism 由 Martin W. Breuss, Danny Antaki, Renee D. George, Morgan L. Kleiber, Kiely N. James, Laurel Ball, Oanh Hong, Ileena Mitra, Xiaoxu Yang, Sara A. Wirth, Jing Gu, Camila Araújo Bernardino Garcia, Madhusudan Gujral, William M. Brandler, Damir Musaev, An Nguyen, Jennifer McEvoy‐Venneri, Renatta Knox, Evan Sticca, Martha Cristina Cancino Botello, Javiera Uribe Fenner, Maria Cárcel Pérez, María J. Arranz, Andrea B. Moffitt, Zihua Wang, Amaia Hervás, Orrin Devinsky, Melissa Gymrek, Jonathan Sebat, Joseph G. Gleeson

    出版 2019
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  13. 13
    Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

    Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration 由 Ashleigh E. Schaffer, Martin W. Breuss, Ahmet Okay Çağlayan, Nouriya Al-Sanaa, Hind Y. Al-Abdulwahed, Hande Kaymakçalan, Cahide Yılmaz, Maha S. Zaki, Rasim Özgür Rosti, Brett Copeland, Seung Tae Baek, Damir Musaev, Eric Scott, Tawfeg Ben‐Omran, Ariana Kariminejad, Hülya Kayserili, Faezeh Mojahedi, Majdi Kara, Na Cai, Jennifer L. Silhavy, Seham Elsharif, Elif Fenercioğlu, Bruce A. Barshop, Bülent Kara, Rengang Wang, Valentina Stanley, Kiely N. James, Rahul Nachnani, Aneesha Kalur, Hisham Megahed, Faruk İncecik, Sumita Danda, Yasemin Alanay, Eissa Faqeih, Gia Melikishvili, Lobna Mansour, Ian Miller, Biayna Sukhudyan, Jamel Chelly, William B. Dobyns, Kaya Bilgüvar, Rami Abou Jamra, Murat Günel, Joseph G. Gleeson

    出版 2018
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  14. 14
    Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

    Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly 由 Guoliang Chai, A. Dinsmoor Webb, Chen Li, Danny Antaki, Sangmoon Lee, Martin W. Breuss, Nhi Lang, Valentina Stanley, Paula Anzenberg, Xiaoxu Yang, Trevor G Marshall, Patrick M. Gaffney, Klaas J. Wierenga, Brian Hon‐Yin Chung, Mandy Ho‐Yin Tsang, Lynn Pais, Alysia Kern Lovgren, Grace E. VanNoy, Heidi L. Rehm, Ghayda Mirzaa, Eyby Leon, Jullianne Diaz, Alexander Neumann, Arnout P. Kalverda, Iain W. Manfield, David Parry, Clare V. Logan, Colin A. Johnson, David T. Bonthron, Elizabeth M. A. Valleley, Mahmoud Y. Issa, Sherif F. Abdel‐Ghafar, Mohamed S. Abdel‐Hamid, Patricia A. Jennings, Maha S. Zaki, Eamonn Sheridan, Joseph G. Gleeson

    出版 2020
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  15. 15
    Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

    Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations 由 Ratna Tripathy, Ines Leca, Tessa van Dijk, Janneke Weiss, Bregje W.M. van Bon, Maria Christina Sergaki, Thomas Gstrein, Martin W. Breuss, Guoling Tian, Nadia Bahi‐Buisson, Alexander Paciorkowski, Alistair T. Pagnamenta, Andrea Wenninger-Weinzierl, Maria Fernanda Martinez-Reza, Lukas Landler, Stefano Lise, Jenny C. Taylor, Gaetano Terrone, Giuseppina Vitiello, Ennio Del Giudice, Nicola Brunetti‐Pierri, Alessandra D’Amico, Alexandre Reymond, Norine Voisin, Jonathan A. Bernstein, Ellyn Farrelly, Usha Kini, Thomas A. Leonard, Stéphanie Valence, Lydie Bürglen, Linlea Armstrong, Susan M. Hiatt, Gregory M. Cooper, Kimberly A. Aldinger, William B. Dobyns, Ghayda Mirzaa, Tyler Mark Pierson, Frank Baas, Jamel Chelly, Nicholas J. Cowan, David A. Keays

    出版 2018
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  16. 16
    Comprehensive multiomic profiling of somatic mutations in malformations of cortical development

    Comprehensive multiomic profiling of somatic mutations in malformations of cortical development 由 Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels, H. Westley Phillips, Ashley P.L. Marsh, Martin W. Breuss, Laurel Ball, Camila Araújo Bernardino Garcia, Renee D. George, Jing Gu, Mingchu Xu, Chelsea Barrows, Kiely N. James, Valentina Stanley, Anna S. Nidhiry, Sami Khoury, Gabrielle Howe, Emily Riley, Xin Xu, Brett Copeland, Yifan Wang, Se Hoon Kim, Hoon‐Chul Kang, Andreas Schulze‐Bonhage, Carola A. Haas, Horst Urbach, Marco Prinz, Corrine Gardner, Christina A. Gurnett, Shifteh Sattar, Mark Nespeca, David Gonda, Katsumi Imai, Yukitoshi Takahashi, Robert Y. Chen, Jin‐Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Wilson A. Silva, Hélio Rubens Machado, Gary W. Mathern, Alexej Abyzov, Sara Baldassari, Stéphanie Baulac, Joseph G. Gleeson

    出版 2022
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  17. 17
    Somatic mosaicism reveals clonal distributions of neocortical development

    Somatic mosaicism reveals clonal distributions of neocortical development 由 Martin W. Breuss, Xiaoxu Yang, Johannes C. M. Schlachetzki, Danny Antaki, Addison J. Lana, Xin Xu, Changuk Chung, Guoliang Chai, Valentina Stanley, Qiong Song, Traci Fang Newmeyer, An T. Nguyen, S O'Brien, Marten A. Hoeksema, Beibei Cao, Alexi Nott, Jennifer McEvoy‐Venneri, Martina P. Pasillas, Scott T. Barton, Brett Copeland, Shareef Nahas, Lucitia Van Der Kraan, Yan Ding, Joseph G. Gleeson, Martin W. Breuss, Xiaoxu Yang, Danny Antaki, Changuk Chung, Dan Averbuj, Eric Courchesne, Laurel Ball, Subhojit Roy, Daniel R. Weinberger, Andrew E. Jaffe, Apuã C.M. Paquola, Jennifer A. Erwin, Jooheon Shin, Michael J. McConnell, Richard E. Straub, Rujuta Narurkar, Gary W. Mathern, Christopher A. Walsh, Alice Lee, August Yue Huang, Alissa M. D’Gama, Caroline Dias, Eduardo A. Maury, Javier Ganz, Michael A. Lodato, Michael B. Miller, Pengpeng Li, Rachel E. Rodin, Rebeca Borges-Monroy, Robert Hill, Sara Bizzotto, Sattar Khoshkhoo, Sonia Kim, Zinan Zhou, Peter J. Park, Alison R. Barton, Alon Galor, Chong Chu, Craig L. Bohrson, D. Gulhan, Elaine T. Lim, Eun‐Cheon Lim, Giorgio Melloni, Isidro Cortes, Jake Lee, Joe Luquette, Lixing Yang, Maxwell A. Sherman, Michael E. Coulter, Min‐Seok Kwon, Semin Lee, Soo In Lee, Vinary Viswanadham, Yanmei Dou, Andrew Chess, Attila Jones, Chaggai Rosenbluh, Schahram Akbarian, Ben Langmead, Jeremy Thorpe, Sean Cho, Alexej Abyzov, Taejeong Bae, Yeongjun Jang, Yifan Wang, Cindy Molitor, Mette A. Peters, Fred H. Gage, Meiyan Wang, Patrick Reed, Sara B. Linker, Alexander E. Urban, Bo Zhou, Reenal Pattni, Xiaowei Zhu, Aitor Serres Amero

    出版 2022
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  18. 18
    Control-independent mosaic single nucleotide variant detection with DeepMosaic

    Control-independent mosaic single nucleotide variant detection with DeepMosaic 由 Xiaoxu Yang, Xin Xu, Martin W. Breuss, Danny Antaki, Laurel Ball, Changuk Chung, Jiawei Shen, Chen Li, Renee D. George, Yifan Wang, Taejeong Bae, Yuhe Cheng, Alexej Abyzov, Liping Wei, Ludmil B. Alexandrov, Jonathan Sebat, Dan Averbuj, Subhojit Roy, Eric Courchesne, August Yue Huang, Alissa M. D’Gama, Caroline Dias, Christopher A. Walsh, Javier Ganz, Michael A. Lodato, Michael Miller, Pengpeng Li, Rachel E. Rodin, Robert Hill, Sara Bizzotto, Sattar Khoshkhoo, Zinan Zhou, Alice Lee, Alison R. Barton, Alon Galor, Chong Chu, Craig L. Bohrson, D. Gulhan, Eduardo A. Maury, Elaine T. Lim, Eun‐Cheon Lim, Giorgio Melloni, Isidro Cortes, Jake Lee, Joe Luquette, Lixing Yang, Maxwell A. Sherman, Michael E. Coulter, Min‐Seok Kwon, Peter J. Park, Rebeca Borges-Monroy, Semin Lee, Sonia Kim, Soo In Lee, Vinary Viswanadham, Yanmei Dou, Andrew Chess, Attila Jones, Chaggai Rosenbluh, Schahram Akbarian, Ben Langmead, Jeremy Thorpe, Sean Cho, Andrew E. Jaffe, Apuã C.M. Paquola, Daniel M. Weinberger, Jennifer A. Erwin, Jooheon Shin, Michael V. McConnell, Richard E. Straub, Rujuta Narurkar, Yeongjun Jang, Cindy Molitor, Mette A. Peters, Fred H. Gage, Meiyan Wang, Patrick Reed, Sara B. Linker, Alexander E. Urban, Bo Zhou, Xiaowei Zhu, Aitor Serres Amero, David Juan, Inna Povolotskaya, Irene Lobón, Manuel Solis Moruno, Raquel García-Pérez, Tomàs Marquès‐Bonet, Eduardo Soriano, Gary W. Mathern, Diane A. Flasch, Trenton J. Frisbie, Huira C. Kopera, Jeffrey M. Kidd, John B. Moldovan, John V. Moran, Kenneth Y. Kwan, Ryan E. Mills, Sarah B. Emery, Weichen Zhou

    出版 2023
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  19. 19
    Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

    Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development 由 Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels, H. Westley Phillips, Zhen Li, Ashley P.L. Marsh, Martin W. Breuss, Laurel Ball, Camila Araújo Bernardino Garcia, Renee D. George, Jing Gu, Mingchu Xu, Chelsea Barrows, Kiely N. James, Valentina Stanley, Anna S. Nidhiry, Sami Khoury, Gabrielle Howe, Emily Riley, Xin Xu, Brett Copeland, Yifan Wang, Se Hoon Kim, Hoon‐Chul Kang, Andreas Schulze‐Bonhage, Carola A. Haas, Horst Urbach, Marco Prinz, David D. Limbrick, Christina A. Gurnett, Matthew D. Smyth, Shifteh Sattar, Mark Nespeca, David Gonda, Katsumi Imai, Yukitoshi Takahashi, Hsin‐Hung Chen, Jin‐Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Wilson A. Silva, Hélio Rubens Machado, Gary W. Mathern, Alexej Abyzov, Sara Baldassari, Stéphanie Baulac, Joseph G. Gleeson, Marilyn C. Jones, Diane Masser‐Frye, Shifteh Sattar, Mark Nespeca, David Gonda, Katsumi Imai, Yukitoshi Takahashi, Hsin‐Hung Chen, Jin‐Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Hélio Rubens Machado, Camila Araújo Bernardino Garcia, Wilson A. Silva, Se Hoon Kim, Hoon‐Chul Kang, Yasemin Alanay, Seema Kapoor, Carola A. Haas, Georgia Ramantani, Thomas J. Feuerstein, Ingmar Blümcke, Robyn M. Busch, Ying Zhong, Vadym Biloshytsky, Kostiantyn Kostiuk, Pedachenko Eg, Gary W. Mathern, Christina A. Gurnett, Matthew D. Smyth, Ingo Helbig, Benjamin C. Kennedy, Judy Liu, Felix Chan, Darcy A. Krueger, Richard E. Frye, Angus A. Wilfong, David L. Adelson, William D. Gaillard, Chima Oluigbo, Anne E. Anderson, Alice Lee, August Yue Huang, Alissa M. D’Gama, Caroline Dias, Christopher A. Walsh, Eduardo A. Maury, Javier Ganz

    出版 2023
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