Resultados da pesquisa - Juliann M. Savatt

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  1. 1
    Genetic Testing in Neurodevelopmental Disorders

    Genetic Testing in Neurodevelopmental Disorders Por Juliann M. Savatt, Scott M. Myers

    Publicado em 2021
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  2. 2
    Single Antisense Oligonucleotides Correct Diverse Splicing Mutations in Hotspot Exons

    Single Antisense Oligonucleotides Correct Diverse Splicing Mutations in Hotspot Exons Por Chaorui Duan, Stephen Rong, Luke Buerer, Christopher R. Neil, Yu Zhong, Zhaohui Lyu, Juliann M. Savatt, Natasha T. Strande, William G. Fairbrother

    Publicado em 2025
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  3. 3
    Genomic Screening at a Single Health System

    Genomic Screening at a Single Health System Por Juliann M. Savatt, Melissa Kelly, Amy C. Sturm, Cara Z. McCormick, Marc S. Williams, Michelle Pistner Nixon, David D.K. Rolston, Natasha T. Strande, Karen E. Wain, Huntington F. Willard, W. Andrew Faucett, David H. Ledbetter, Adam H. Buchanan, Alastair J. Martin

    Publicado em 2025
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  4. 4
    Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

    Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer Por Kezhi Yan, Justine Rousseau, Keren Machol, Laura Cross, Katherine Agre, Cynthia Forster Gibson, Anne Goverde, Kendra Engleman, Hannah Verdin, Elfride De Baere, Lorraine Potocki, Dihong Zhou, Maxime Cadieux‐Dion, Gary A. Bellus, Monisa Wagner, Rebecca J. Hale, Natacha Esber, Alan Riley, Benjamin D. Solomon, Megan T. Cho, Kirsty McWalter, Roy Eyal, Meagan K. Hainlen, Bryce A. Mendelsohn, Hillary M. Porter, Brendan C. Lanpher, Andrea M. Lewis, Juliann M. Savatt, Isabelle Thiffault, Bert Callewaert, Philippe M. Campeau, Xiang‐Jiao Yang

    Publicado em 2020
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  5. 5
    Exome Sequencing–Based Screening for <i>BRCA1/2</i> Expected Pathogenic Variants Among Adult Biobank Participants

    Exome Sequencing–Based Screening for <i>BRCA1/2</i> Expected Pathogenic Variants Among Adult Biobank Participants Por Kandamurugu Manickam, Adam H. Buchanan, M. Schwartz, Miranda L. G. Hallquist, Janet L. Williams, Alanna Kulchak Rahm, Heather Rocha, Juliann M. Savatt, Alyson Evans, Loren Butry, Amanda L. Lazzeri, D’Andra M. Lindbuchler, Carroll N. Flansburg, Rosemary Leeming, Victor G. Vogel, Matthew S. Lebo, Heather Mason‐Suares, Derick Hoskinson, Noura S. Abul‐Husn, Frederick E. Dewey, John D. Overton, Jeffrey G. Reid, Aris Baras, Huntington F. Willard, Cara Z. McCormick, S. Krishnamurthy, Dustin N. Hartzel, Korey A. Kost, Daniel R. Lavage, Amy C. Sturm, Lauren R. Frisbie, Thomas N. Person, Raghu Metpally, Monica A. Giovanni, Lacy E. Lowry, Joseph B. Leader, Marylyn D. Ritchie, David J. Carey, Anne E. Justice, H. Lester Kirchner, W. Andrew Faucett, Marc S. Williams, David H. Ledbetter, Michael F. Murray

    Publicado em 2018
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  6. 6
    TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

    TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities Por Laura Vandervore, Rachel Schot, Chiara Milanese, Daphne J. Smits, Esmee Kasteleijn, Andrew E. Fry, Daniela T. Pilz, Stefanie Brock, Esra Börklü, Marco Post, Nadia Bahi‐Buisson, María José Sánchez-Soler, Marjon van Slegtenhorst, Boris Keren, Alexandra Afenjar, Stephanie A. Coury, Wen‐Hann Tan, Renske Oegema, Linda S. de Vries, Katherine A. Fawcett, Peter G. J. Nikkels, Aida M. Bertoli‐Avella, Amal Al Hashem, Abdulmalik A. Alwabel, K. Tlili-Graiess, Stéphanie Efthymiou, Faisal Zafar, Nuzhat Rana, Farah Bibi, Henry Houlden, Reza Maroofian, Richard Person, Amy Crunk, Juliann M. Savatt, Lisbeth Turner, Mohammad Doosti, Ehsan Ghayoor Karimiani, Nebal Waill Saadi, Javad Akhondian, Maarten H. Lequin, Hülya Kayserili, Peter J. van der Spek, Anna Jansen, Johan M. Kros, Robert M. Verdijk, Nataša Jovanov Milošević, Maarten Fornerod, Pier G. Mastroberardino, Grazia M.S. Mancini

    Publicado em 2019
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  7. 7
    DLG4-related synaptopathy: a new rare brain disorder

    DLG4-related synaptopathy: a new rare brain disorder Por Agustí Rodríguez‐Palmero, Melissa M. Boerrigter, David Gómez‐Andrés, Kimberly A. Aldinger, Íñigo Marcos‐Alcalde, Bernt Popp, David B. Everman, Alysia Kern Lovgren, Stéphanie Arpin, Vahid Bahrambeigi, Gea Beunders, Anne‐Marie Bisgaard, Victoria A. Bjerregaard, Ange‐Line Bruel, Thomas D. Challman, Benjamin Cogné, Christine Coubes, de Man, Anne‐Sophie Denommé‐Pichon, Thomas J. Dye, Frances Elmslie, Lars Feuk, Sixto García‐Miñaúr, Tracy S. Gertler, Elisa Giorgio, Nicolas Gruchy, Tobias B. Haack, Chad R. Haldeman‐Englert, Bjørn Ivar Haukanes, Juliane Hoyer, Anna Hurst, Bertrand Isidor, Maria Soller, Sulagna Kushary, Malin Kvarnung, Yuval E. Landau, Kathleen A. Leppig, Anna Lindstrand, Lotte Kleinendorst, Alex MacKenzie, Giorgia Mandrile, Bryce A. Mendelsohn, Setareh Moghadasi, Jenny E.V. Morton, Sébastien Moutton, Amelie J. Müller, Melanie O’Leary, Marta Pacio‐Míguez, María Palomares‐Bralo, Sumit Parikh, Rolph Pfundt, Ben Pode‐Shakked, Anita Rauch, Elena Repnikova, Anya Revah‐Politi, Meredith J. Ross, Claudia Ruivenkamp, Elisabeth Sarrazin, Juliann M. Savatt, Agatha Schlüter, Bitten Schönewolf‐Greulich, Zohra Shad, Charles Shaw‐Smith, Joseph T.C. Shieh, M Shohat, Stephanie Spranger, Heidi Thiese, Frédéric Tran Mau‐Them, Bregje W.M. van Bon, Ineke van de Burgt, Ingrid M.B.H. van de Laar, Esmée van Drie, Mieke M. van Haelst, Conny M.A. van Ravenswaaij‐Arts, Edgard Verdura, Antonio Vitobello, Stephan Waldmüller, Sharon Whiting, Christiane Zweier, Carlos E. Prada, Bert B.A. de Vries, William B. Dobyns, Simone Frizell Reiter, Paulino Gómez‐Puertas, Aurora Pujol, Zeynep Tümer

    Publicado em 2021
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  8. 8
    Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications

    Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications Por Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina Fenger, Ahmed Eltokhi, Maert Rannap, Nils A. Koch, Stephan Lauxmann, Johanna Krüger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Patrick May, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, Katalin Štěrbová, Petra Laššuthová, Markéta Vlčková, Johannes R. Lemke, Konrad Platzer, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell-Seger, Caroline Lund, Karl Martin Klein, P Y Billie Au, Jong M. Rho, Alice Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina Engel Hoei‐Hansen, Pasquale Striano, Federico Zara, Hélène Verhelst, J. Verhoeven, Hilde M. H. Braakman, Bert van der Zwaag, Aster V. E. Harder, Eva H. Brilstra, Manuela Pendziwiat, Sebastian Lebon, María Vaccarezza, Ngọc Minh Lê, Jakob Christensen, Sabine Grønborg, Stephen W. Scherer, Jennifer Howe, Walid Fazeli, Katherine B. Howell, Richard J. Leventer, Chloe Stutterd, Sonja Walsh, Marion Gérard, Bénédicte Gérard, Sara Matricardi, Claudia Bonardi, Stefano Sartori, Andrea Berger, Dorota Hoffman‐Zacharska, Massimo Mastrangelo, Francesca Darra, Arve Vøllo, M. Mahdi Motazacker, Phillis Lakeman, Mathilde Nizon, Cornelia Betzler, Cécilia Altuzarra, Roseline Caume, Agathe Roubertie, Philippe Gélisse, Carla Marini, Renzo Guerrini, Frédéric Bilan, Daniel Tibussek, Margarete Koch‐Hogrebe, Μ. Scott Perry, Shoji Ichikawa, Е. Л. Дадали, Artem Sharkov, Irina Mishina, M. O. Abramov, Ilya Kanivets, С. А. Коростелев, Sergey I. Kutsev, Karen E. Wain, Nancy Eisenhauer, Monisa Wagner, Juliann M. Savatt, Karen Müller‐Schlüter, Haim Bassan, Artem Borovikov, Marie‐Cécile Nassogne

    Publicado em 2021
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  9. 9
    Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

    Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations Por Dervla M. Connaughton, Rufeng Dai, Danielle Owen, Jonathan Marquez, Nina Mann, Adda L. Graham-Paquin, Makiko Nakayama, Étienne Coyaud, Estelle Laurent, Jonathan St‐Germain, Lot Snijders Blok, Arianna Vino, Verena Klämbt, Konstantin Deutsch, Chen-Han Wilfred Wu, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Ronen Schneider, Thomas M. Kitzler, Amar J. Majmundar, Florian Buerger, Ana C. Onuchic-Whitford, Youying Mao, Amy Kolb, Daanya Salmanullah, Evan Chen, Amelie T. van der Ven, Jia Rao, Hadas Ityel, Steve Seltzsam, Johanna M. Rieke, Jing Chen, Asaf Vivante, Daw‐Yang Hwang, Stefan Kohl, Gabriel C. Dworschak, Tobias Hermle, Mariëlle Alders, Tobias Bartolomaeus, Stuart B. Bauer, Michelle A. Baum, Eva H. Brilstra, Thomas D. Challman, Jacob Zyskind, Carrie E. Costin, Katrina M. Dipple, Floor A.M. Duijkers, Marcia Ferguson, David Fitzpatrick, Roger Fick, Ian Glass, Peter J. Hulick, Antonie D. Kline, Ilona Krey, Selvin Kumar, Lu W, Elysa J. Marco, Ingrid M. Wentzensen, Heather C. Mefford, Konrad Platzer, Inna Povolotskaya, Juliann M. Savatt, Н. В. Щербакова, Prabha Senguttuvan, Audrey Squire, Deborah R. Stein, Isabelle Thiffault, V. Yu. Voinova, Michael J. Somers, Michael A. Ferguson, Avram Z. Traum, Ghaleb H. Daouk, Ankana Daga, Nancy Rodig, Paulien A. Terhal, Ellen van Binsbergen, Loai Eid, Velibor Tasić, Hila Milo Rasouly, Tze Y. Lim, Dina Ahram, Ali G. Gharavi, Heiko Reutter, Heidi L. Rehm, Daniel G. MacArthur, Monkol Lek, Kristen M. Laricchia, Richard P. Lifton, Hong Xu, Shrikant Mane, Simone Sanna‐Cherchi, Andrew D. Sharrocks, Brian Raught, Simon E. Fisher, Maxime Bouchard, Mustafa K. Khokha, Shirlee Shril, Friedhelm Hildebrandt

    Publicado em 2020
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