Search Results - Mackenzie Mosera

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  1. 1

    P308: A clinical practice guideline for genetic testing in perinatal demise: Enhancing diagnosis through multidisciplinary collaboration by Mackenzie Mosera, Samantha Stover, Caitlin Mann, Karee Morgan, Suné van Wyk, Elise Boos, Chelsea Fechter, Emily Morris, Bryce Schuler

    Published in Genetics in Medicine Open (2025-01-01)
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  2. 2

    P779: SRY positive 46,XX: A unique family with fertile female mother and male children challenging the dogma of sex determination by Xinxiu Xu, Rebecca Smith, Meng-Chang Hsiao, Ashwini Yenamandra, Angela Grochowsky, Dorothea Siebold, Mackenzie Mosera, Rhonda Bacman, Monica Guardado, Christine Stowe

    Published in Genetics in Medicine Open (2025-01-01)
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  3. 3

    A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype by Rory J. Tinker, Tiffany Guess, David C. Rinker, Jonathan H. Sheehan, Daniel Lubarsky, Binu Porath, Mackenzie Mosera, Ping Mayo, Emily Solem, Laura A. Lee, Asha Sarma, Jennifer Brault

    Published in Molecular Genetics & Genomic Medicine (2022-12-01)
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  4. 4

    Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles by Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex, Alexandre Reymond

    Published in Genome Medicine (2024-05-01)
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