Genetic Testing in Neurodevelopmental Disorders

por Savatt, Juliann M., Myers, Scott M.
Publicado 2021

Clinical validation of genomic functional screen data: Analysis of observed BRCA1 variants in an unselected population cohort

por Schiabor Barrett, Kelly M., Masnick, Max, Hatchell, Kathryn E., Savatt, Juliann M., Banet, Natalie, Buchanan, Adam, Willard, Huntington F.
Publicado 2022

Experience Completing Population Screening for Variants Associated With Endocrine Tumor Syndromes in a Large, Healthcare-Based Cohort

por Savatt, Juliann M, Deckard, Nicole M, Thone, Gretchen, McDonald, Whitney S, Alvi, Madiha M, Purdy, Nicholas C, Lindemann, Timothy L, Sturm, Amy C, Buchanan, Adam H
Publicado 2021

Testing and Management of Iron Overload After Genetic Screening–Identified Hemochromatosis

por Savatt, Juliann M., Johns, Alicia, Schwartz, Marci L. B., McDonald, Whitney S., Salvati, Zachary M., Oritz, Nicole M., Masnick, Max, Hatchell, Kathryn, Hao, Jing, Buchanan, Adam H., Williams, Marc S.
Publicado 2023

Variant Interpretation is a Component of Clinical Practice Among Genetic Counselors in Multiple Specialties

por Wain, Karen E., Azzariti, Danielle R., Goldstein, Jennifer L., Johnson, Amy Knight, Krautscheid, Patti, Lepore, Brianna, O’Daniel, Julianne M., Ritter, Deborah, Savatt, Juliann M., Riggs, Erin Rooney, Martin, Christa Lese
Publicado 2019

Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort

por Savatt, Juliann M., Ortiz, Nicole M., Thone, Gretchen M., McDonald, Whitney S., Kelly, Melissa A., Berry, Alexander S. F., Alvi, Madiha M., Hallquist, Miranda L. G., Malinowski, Jennifer, Purdy, Nicholas C., Williams, Marc S., Sturm, Amy C., Buchanan, Adam H.
Publicado 2022

A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System

por Jones, Laney K., Strande, Natasha T., Calvo, Evan M., Chen, Jingheng, Rodriguez, Gabriela, McCormick, Cara Z., Hallquist, Miranda L. G., Savatt, Juliann M., Rocha, Heather, Williams, Marc S., Sturm, Amy C., Buchanan, Adam H., Glasgow, Russell E., Martin, Christa L., Rahm, Alanna Kulchak
Publicado 2022

Application of a framework to guide genetic testing communication across clinical indications

por Hallquist, Miranda L. G., Tricou, Eric P., Ormond, Kelly E., Savatt, Juliann M., Coughlin, Curtis R., Faucett, W. Andrew, Hercher, Laura, Levy, Howard P., O’Daniel, Julianne M., Peay, Holly L., Stosic, Melissa, Smith, Maureen, Uhlmann, Wendy R., Wand, Hannah, Wain, Karen E., Buchanan, Adam H.
Publicado 2021

Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric...

por Savatt, Juliann M., Wagner, Jennifer K., Joffe, Steven, Rahm, Alanna Kulchak, Williams, Marc S., Bradbury, Angela R., Davis, F. Daniel, Hergenrather, Julie, Hu, Yirui, Kelly, Melissa A., Kirchner, H. Lester, Meyer, Michelle N., Mozersky, Jessica, O’Dell, Sean M., Pervola, Josie, Seeley, Andrea, Sturm, Amy C., Buchanan, Adam H.
Publicado 2020

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

por Asif, Maria, Kaygusuz, Emrah, Shinawi, Marwan, Nickelsen, Anna, Hsieh, Tzung-Chien, Wagle, Prerana, Budde, Birgit S., Hochscherf, Jennifer, Abdullah, Uzma, Höning, Stefan, Nienberg, Christian, Lindenblatt, Dirk, Noegel, Angelika A., Altmüller, Janine, Thiele, Holger, Motameny, Susanne, Fleischer, Nicole, Segal, Idan, Pais, Lynn, Tinschert, Sigrid, Samra, Nadra Nasser, Savatt, Juliann M., Rudy, Natasha L., De Luca, Chiara, Paola Fortugno, White, Susan M., Krawitz, Peter, Hurst, Anna C.E., Niefind, Karsten, Jose, Joachim, Brancati, Francesco, Nürnberg, Peter, Hussain, Muhammad Sajid
Publicado 2022

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

por Yan, Kezhi, Rousseau, Justine, Machol, Keren, Cross, Laura A., Agre, Katherine E., Gibson, Cynthia Forster, Goverde, Anne, Engleman, Kendra L., Verdin, Hannah, De Baere, Elfride, Potocki, Lorraine, Zhou, Dihong, Cadieux-Dion, Maxime, Bellus, Gary A., Wagner, Monisa D., Hale, Rebecca J., Esber, Natacha, Riley, Alan F., Solomon, Benjamin D., Cho, Megan T., McWalter, Kirsty, Eyal, Roy, Hainlen, Meagan K., Mendelsohn, Bryce A., Porter, Hillary M., Lanpher, Brendan C., Lewis, Andrea M., Savatt, Juliann, Thiffault, Isabelle, Callewaert, Bert, Campeau, Philippe M., Yang, Xiang-Jiao
Publicado 2020

Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

por Manickam, Kandamurugu, Buchanan, Adam H., Schwartz, Marci L. B., Hallquist, Miranda L. G., Williams, Janet L., Rahm, Alanna Kulchak, Rocha, Heather, Savatt, Juliann M., Evans, Alyson E., Butry, Loren M., Lazzeri, Amanda L., Lindbuchler, D’Andra M., Flansburg, Carroll N., Leeming, Rosemary, Vogel, Victor G., Lebo, Matthew S., Mason-Suares, Heather M., Hoskinson, Derick C., Abul-Husn, Noura S., Dewey, Frederick E., Overton, John D., Reid, Jeffrey G., Baras, Aris, Willard, Huntington F., McCormick, Cara Z., Krishnamurthy, Sarath B., Hartzel, Dustin N., Kost, Korey A., Lavage, Daniel R., Sturm, Amy C., Frisbie, Lauren R., Person, T. Nate, Metpally, Raghu P., Giovanni, Monica A., Lowry, Lacy E., Leader, Joseph B., Ritchie, Marylyn D., Carey, David J., Justice, Anne E., Kirchner, H. Lester, Faucett, W. Andrew, Williams, Marc S., Ledbetter, David H., Murray, Michael F.
Publicado 2018