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15 results for Savatt,+Juliann+M.

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Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort
Author / Creator: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.
Publisher:England: BioMed Central Ltd
Journal title:BMC medicine, 2022-06, Vol.20 (1), p.205-205, Article 205
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Application of a framework to guide genetic testing communication across clinical indications
Author / Creator: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.
Publisher:England: BioMed Central
Journal title:Genome medicine, 2021-04, Vol.13 (1), p.71-71, Article 71
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The Brain Gene Registry: a data snapshot
Author / Creator:Baldridge, Dustin ; Kaster, Levi ; Sancimino, Catherine ; Srivastava, Siddharth ; Molholm, Sophie ; Gupta, Aditi ; Oh, Inez ; Lanzotti, Virginia ; Grewal, Daleep ; Riggs, Erin Rooney ; Savatt, Juliann M. ; Hauck, Rachel ; Sveden, Abigail ; Wasserstein, Melissa ; Sahin, Mustafa ; Wangler, Michael F. ; Schultz, Robert ; Gropman, Andrea ; Smith-Hicks, Constance ; Abbeduto, Len ; German, Kendell ; DaWalt, Leann Smith ; Neul, Jeffrey L. ; Walkley, Steven U. ; Storch, Eric A. ; Samaco, Rodney ; Izumi, Kosuke ; Pandey, Juhi ; Berger, Seth I. ; Cohen, Julie S. ; Shankar, Suma ; Doherty, Dan ; Mahida, Sonal ; Dies, Kira A. ; Clarke, Megan ; Taylor, Alexa ; Berl, Madison ; German, Ryan ; Nguyen, Christina ; Harris, Holly K. ; Hut, Amanda ; Gomez, Vanessa ; Arneson, Carrie L. ; Horn, Isaac ; Lavezzi, Gabriel Damon ; Grypp, Diane ; McNeil, Devinae ; White, Cailin ; Rusyniak, Julie ; Higareda, Abigail Moradel ; Deppen, Paul ; Bican, Anna ; Rockouski, Madeline ; Schneider, Emily ; Thompson, Madeline ; Kinard, Jessica ; Minor, Brittany ; Constantino, John N. ; Piven, Joseph ; Gurnett, Christina A. ; Chopra, Maya ; Hazlett, Heather ; Payne, Philip R. O.
Publisher:England: BioMed Central Ltd
Journal title:Journal of neurodevelopmental disorders, 2024-04, Vol.16 (1), p.17-14, Article 17
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Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic varia...
Author / Creator: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.
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2020-05, Vol.20 (1), p.222-222, Article 222
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Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry
Author / Creator:Savatt, Juliann M. ; Azzariti, Danielle R. ; Ledbetter, David H. ; Palen, Emily ; Rehm, Heidi L. ; Riggs, Erin Rooney ; Martin, Christa Lese
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-09, Vol.23 (9), p.1738-1745
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Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder
Author / Creator:Cordova, Ineke ; Blesson, Alyssa ; Savatt, Juliann M. ; Sveden, Abigail ; Mahida, Sonal ; Hazlett, Heather ; Rooney Riggs, Erin ; Chopra, Maya
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-03, Vol.15 (4), p.423
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Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties
Author / Creator: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
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2020-04, Vol.22 (4), p.785-792
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Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic
Author / Creator:Hallquist, Miranda L. G. ; Tricou, Eric P. ; Hallquist, Michael N. ; Savatt, Juliann M. ; Rocha, Heather ; Evans, Alyson E. ; Deckard, Nicole ; Hu, Yirui ; Kirchner, H. Lester ; Pervola, Josie ; Rahm, Alanna Kulchak ; Rashkin, Misha ; Schmidlen, Tara J. ; Schwartz, Marci L. B. ; Williams, Janet L. ; Williams, Marc S. ; Buchanan, Adam H.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-08, Vol.22 (8), p.1348-1354
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Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants
Author / Creator: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.
Publisher:United States: American Medical Association
Journal title:JAMA network open, 2018-09, Vol.1 (5), p.e182140-e182140
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Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities
Author / Creator:Rocha, Heather Mae ; Savatt, Juliann M. ; Riggs, Erin Rooney ; Wagner, Jennifer K. ; Faucett, W. Andrew ; Martin, Christa Lese
Publisher:New York: Springer US
Journal title:Journal of genetic counseling, 2018-04, Vol.27 (2), p.470-480
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Testing and Management of Iron Overload After Genetic Screening–Identified Hemochromatosis
Author / Creator: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.
Publisher:United States: American Medical Association
Journal title:JAMA network open, 2023-10, Vol.6 (10), p.e2338995
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Genomic Screening at a Single Health System
Author / Creator:Savatt, Juliann M. ; Kelly, Melissa A. ; Sturm, Amy C. ; McCormick, Cara Z. ; Williams, Marc S. ; Nixon, Michelle Pistner ; Rolston, David D. ; Strande, Natasha T. ; Wain, Karen E. ; Willard, Huntington F. ; Faucett, W. Andrew ; Ledbetter, David H. ; Buchanan, Adam H. ; Martin, Christa L.
Publisher:United States: American Medical Association
Journal title:JAMA network open, 2025-03, Vol.8 (3), p.e250917
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ArticlesPeer ReviewedFull Text
Expansion of the Genotypic and Phenotypic Spectrum of IASH1L/I-Related Syndromic Neurodevelopmental Disorder
Author / Creator:Cordova, Ineke ; Blesson, Alyssa ; Savatt, Juliann M ; Sveden, Abigail ; Mahida, Sonal ; Hazlett, Heather ; Rooney Riggs, Erin ; Chopra, Maya
Publisher:MDPI AG
Journal title:Genes, 2024-04, Vol.15 (4)
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Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome
Author / Creator:Angelozzi, Marco ; Karvande, Anirudha ; Molin, Arnaud N ; Ritter, Alyssa L ; Leonard, Jacqueline M M ; Savatt, Juliann M ; Douglass, Kristen ; Myers, Scott M ; Grippa, Mina ; Tolchin, Dara ; Zackai, Elaine ; Donoghue, Sarah ; Hurst, Anna C E ; Descartes, Maria ; Smith, Kirstin ; Velasco, Danita ; Schmanski, Andrew ; Crunk, Amy ; Tokita, Mari J ; de Lange, Iris M ; van Gassen, Koen ; Robinson, Hannah ; Guegan, Katie ; Suri, Mohnish ; Patel, Chirag ; Bournez, Marie ; Faivre, Laurence ; Tran-Mau-Them, Frédéric ; Baker, Janice ; Fabie, Noelle ; Weaver, K ; Shillington, Amelle ; Hopkin, Robert J ; Barge-Schaapveld, Daniela Q C.M ; Ruivenkamp, Claudia AL ; Bökenkamp, Regina ; Vergano, Samantha ; Seco Moro, Maria Noelia ; Díaz de Bustamante, Aranzazu ; Misra, Vinod K ; Kennelly, Kelly ; Rogers, Caleb ; Friedman, Jennifer ; Wigby, Kristen M ; Lenberg, Jerica ; Graziano, Claudio ; Ahrens-Nicklas, Rebecca C ; Lefebvre, Veronique
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2022-11, Vol.59 (11), p.1058-1068
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ArticlesPeer ReviewedFull Text
Experience Completing Population Screening for Variants Associated With Endocrine Tumor Syndromes in a Large, Healthcare-Based Cohort
Author / Creator: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
Publisher:US: Oxford University Press
Journal title:Journal of the Endocrine Society, 2021-05, Vol.5 (Supplement_1), p.A502-A502
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Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort

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

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The Brain Gene Registry: a data snapshot

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

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Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry

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Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder

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Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties

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Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic

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

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Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities

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

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Genomic Screening at a Single Health System

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Expansion of the Genotypic and Phenotypic Spectrum of IASH1L/I-Related Syndromic Neurodevelopmental Disorder

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Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome

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

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