Resultados da busca - Max Schubach

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  1. 1
    CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

    CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores por Philipp Rentzsch, Max Schubach, Jay Shendure, Martin Kircher

    Publicado em 2021
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  2. 2
    Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants

    Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants por Max Schubach, Matteo Ré, Peter N. Robinson, Giorgio Valentini

    Publicado em 2017
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  3. 3
    CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions

    CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions por Max Schubach, Thorben Maaß, Lusiné Nazaretyan, Sebastian Röner, Martin Kircher

    Publicado em 2024
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  4. 4
    Further delineation of the SATB2 phenotype

    Further delineation of the SATB2 phenotype por Dennis Döcker, Max Schubach, Moritz Menzel, Marita Munz, Christiane Spaich, Saskia Biskup, Deborah Bartholdi

    Publicado em 2013
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  5. 5
    Using individual barcodes to increase quantification power of massively parallel reporter assays

    Using individual barcodes to increase quantification power of massively parallel reporter assays por Pia Keukeleire, Jonathan D. Rosen, Angelina Göbel-Knapp, Kilian Salomon, Max Schubach, Martin Kircher

    Publicado em 2025
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  6. 6
    Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution

    Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution por Martin Kircher, Chenling Xiong, Beth Martin, Max Schubach, Fumitaka Inoue, Robert J.A. Bell, J Costello, Jay Shendure, Nadav Ahituv

    Publicado em 2019
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  7. 7
    Massively parallel characterization of transcriptional regulatory elements in three diverse human cell types

    Massively parallel characterization of transcriptional regulatory elements in three diverse human cell types por Vikram Agarwal, Fumitaka Inoue, Max Schubach, Beth Martin, Pyaree Mohan Dash, Zicong Zhang, Ajuni Sohota, William Stafford Noble, Galip Gürkan Yardımcı, Martin Kircher, Jay Shendure, Nadav Ahituv

    Publicado em 2023
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  8. 8
    Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

    Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies por Nicola Glöckle, Susanne Kohl, Julia Mohr, Tim Scheurenbrand, Andrea Sprecher, Nicole Weisschuh, Antje Bernd, Günther Rudolph, Max Schubach, Charlotte M. Poloschek, Eberhart Zrenner, Saskia Biskup, Wolfgang Berger, Bernd Wissinger, John Neidhardt

    Publicado em 2013
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  9. 9
    Next-generation diagnostics and disease-gene discovery with the Exomiser

    Next-generation diagnostics and disease-gene discovery with the Exomiser por Damian Smedley, Julius O.B. Jacobsen, Marten Jäger, Sebastian Köhler, Manuel Holtgrewe, Max Schubach, Enrico Siragusa, Tomasz Żemojtel, Orion J. Buske, Nicole L. Washington, William P. Bone, Melissa Haendel, Peter N. Robinson

    Publicado em 2015
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  10. 10
    Loss-of-function variants in HIVEP2 are a cause of intellectual disability

    Loss-of-function variants in HIVEP2 are a cause of intellectual disability por Siddharth Srivastava, Hartmut Engels, Ina Schanze, Kirsten Cremer, Thomas Wieland, Moritz Menzel, Max Schubach, Saskia Biskup, Martina Kreiß, Sabine Endele, Tim M. Strom, Dagmar Wieczorek, Martin Zenker, Siddharth Gupta, Julie S. Cohen, Alexander M. Zink, Sakkubai Naidu

    Publicado em 2015
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  11. 11
    A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

    A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease por Damian Smedley, Max Schubach, Julius O.B. Jacobsen, Sebastian Köhler, Tomasz Żemojtel, Malte Spielmann, Marten Jäger, Harry Hochheiser, Nicole L. Washington, Julie A. McMurry, Melissa Haendel, Chris Mungall, Suzanna Lewis, Tudor Groza, Giorgio Valentini, Peter N. Robinson

    Publicado em 2016
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  12. 12
    lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements

    lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements por M. Grace Gordon, Fumitaka Inoue, Beth Martin, Max Schubach, Vikram Agarwal, Sean Whalen, Shiyun Feng, Jingjing Zhao, Tal Ashuach, Ryan Ziffra, Anat Kreimer, Ilias Georgakopoulos-Soares, Nir Yosef, Chun Ye, Katherine S. Pollard, Jay Shendure, Martin Kircher, Nadav Ahituv

    Publicado em 2020
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  13. 13
    Massively parallel characterization of transcriptional regulatory elements

    Massively parallel characterization of transcriptional regulatory elements por Vikram Agarwal, Fumitaka Inoue, Max Schubach, Dmitry Penzar, Beth Martin, Pyaree Mohan Dash, Pia Keukeleire, Zicong Zhang, Ajuni Sohota, Jingjing Zhao, Ilias Georgakopoulos-Soares, William Stafford Noble, Galip Gürkan Yardımcı, Ivan V. Kulakovskiy, Martin Kircher, Jay Shendure, Nadav Ahituv

    Publicado em 2025
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  14. 14
    Massively parallel reporter assays and mouse transgenic assays provide correlated and complementary information about neuronal enhancer activity

    Massively parallel reporter assays and mouse transgenic assays provide correlated and complementary information about neuronal enhancer activity por Michael Kosicki, Dianne Laboy Cintrón, Pia Keukeleire, Max Schubach, Nicholas F. Page, Ilias Georgakopoulos-Soares, Jennifer A. Akiyama, Ingrid Plajzer-Frick, Catherine S. Novak, Momoe Kato, Riana D. Hunter, Kianna von Maydell, Sarah Barton, Patrick Godfrey, Erik Beckman, Stephan Sanders, Martin Kircher, L Pennacchio, Nadav Ahituv

    Publicado em 2025
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  15. 15
    Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

    Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing por Nicole Weisschuh, Anja K. Mayer, Tim M. Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andréasson, Antje Bernd, David G. Birch, Christian P. Hamel, John R. Heckenlively, Samuel G. Jacobson, C. Kamme, Ulrich Kellner, Erdmute Kunstmann, Pietro Maffei, Charlotte Reiff, Klaus Rohrschneider, Thomas Rosenberg, Günther Rudolph, Rita Vámos, Balázs Varsányi, Richard G. Weleber, Bernd Wissinger

    Publicado em 2016
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  16. 16
    Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay

    Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay por Dustin Shigaki, Orit Adato, Aashish N. Adhikari, Shengcheng Dong, Alex Hawkins‐Hooker, Fumitaka Inoue, Tamar Juven‐Gershon, Henry Kenlay, Beth Martin, Ayoti Patra, Dmitry Penzar, Max Schubach, Chenling Xiong, Zhongxia Yan, Alan P. Boyle, Anat Kreimer, Ivan V. Kulakovskiy, John E. Reid, Ron Unger, Nir Yosef, Jay Shendure, Nadav Ahituv, Martin Kircher, M Beer

    Publicado em 2019
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  17. 17
    Targeted next generation sequencing as a diagnostic tool in epileptic disorders

    Targeted next generation sequencing as a diagnostic tool in epileptic disorders por Johannes R. Lemke, Erik Riesch, Tim Scheurenbrand, Max Schubach, Christian Wilhelm, Isabelle Steiner, Jörg Hansen, Carolina Courage, Sabina Gallati, Sarah Bürki, Susi Strozzi, Barbara Goeggel Simonetti, Sebastian Grunt, Maja Steinlin, Michael Alber, Markus Wolff, Thomas Klopstock, Eva Christina Prott, Rüdiger Lorenz, Christiane Spaich, Sabine Rona, Maya Lakshminarasimhan, Judith F. Kroll, Thomas Dorn, Günter Krämer, Matthis Synofzik, Felicitas Becker, Yvonne G. Weber, Holger Lerche, Detlef Böhm, Saskia Biskup

    Publicado em 2012
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  18. 18
    Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

    Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis por Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung‐Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven A. Skinner, Raymond J. Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endzinienė, Fanny Kortüm, Natasha J. Brown, Peter N. Robinson, Helenius J. Schelhaas, Yvonne G. Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter Krawitz

    Publicado em 2018
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  19. 19
    Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

    Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders por Björn Fischer‐Zirnsak, Lara Segebrecht, Max Schubach, Perrine Charles, Emily Alderman, Kathleen Brown, Maxime Cadieux‐Dion, Tracy Cartwright, Yanmin Chen, Carrie Costin, Sarah Fehr, Keely Fitzgerald, Emily Fleming, Kimberly Foss, Thoa K. Ha, Gabriele Hildebrand, Denise Horn, Shuxi Liu, Elysa J. Marco, Marie McDonald, Kirsty McWalter, Simone Race, Eric T. Rush, Yue Si, Carol Saunders, Anne Slavotinek, Sylvia Stöckler‐Ipsiroglu, Aida Telegrafi, Isabelle Thiffault, Erin Torti, Anne Chun‐Hui Tsai, Xin Wang, Muhammad Sohail Zafar, Boris Keren, Uwe Kornak, Cornelius F. Boerkoel, Ghayda Mirzaa, Nadja Ehmke

    Publicado em 2019
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  20. 20
    PEDIA: prioritization of exome data by image analysis

    PEDIA: prioritization of exome data by image analysis por Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel, Dione Aguilar, Omri Bar, Allan Bayat, Luis E. Becerra-Solano, Heidi Beate Bentzen, Saskia Biskup, Oleg Borisov, Øivind Braaten, Claudia Ciaccio, Marie Coutelier, Kirsten Cremer, Magdalena Danyel, Svenja Daschkey, Hilda David Eden, Koenraad Devriendt, Sandra Wilson, Sofia Douzgou, Dejan Đukić, Nadja Ehmke, Christine Fauth, Björn Fischer‐Zirnsak, Nicole Fleischer, Heinz Gabriel, Luitgard Graul‐Neumann, Karen W. Gripp, Yaron Gurovich, А.А. Гусина, Nechama Haddad, Nurulhuda Hajjir, Yair Hanani, Jakob Hertzberg, Konstanze Hoertnagel, Janelle Howell, Ivan Ivanovski, Angela M. Kaindl, Tom Kamphans, Susanne Kamphausen, Catherine Karimov, Hadil Kathom, Anna Keryan, Alexej Knaus, Sebastian Köhler, Uwe Kornak, А. В. Лавров, Maximilian Leitheiser, Gholson J. Lyon, Elisabeth Mangold, Purificación Marín Reina, Antonio Martínez Carrascal, Diana Mitter, Laura Morlán Herrador, Guy Nadav, Markus M. Nöthen, Alfredo Orrico, Claus‐Eric Ott, Kristen Park, Borut Peterlin, Laura Pölsler, Annick Raas‐Rothschild, Linda M. Randolph, Nicole Revençu, Christina Fagerberg, Peter Nick Robinson, Stanislav Rosnev, Sabine Rudnik, Goražd Rudolf, Ulrich A. Schatz, Anna Schossig, Max Schubach, Or Shanoon, Eamonn Sheridan, Pola Smirin‐Yosef, Malte Spielmann, Eun-Kyung Suk, Yves Sznajer, Christian T. Thiel, Gundula Thiel, Alain Verloès, Irena Vrečar, Dagmar Wahl, Ingrid Weber, Korina Winter, Marzena Wiśniewska, Bernd Wollnik, Ming Wai Yeung, Max Zhao, Na Zhu, Johannes Zschocke, Stefan Mundlos, Denise Horn, Peter Krawitz

    Publicado em 2019
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