Publications by authors named "Juliann M Savatt"

9Publications

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Authors:
Dervla M Connaughton Rufeng Dai Danielle J Owen Jonathan Marquez Nina Mann Adda L Graham-Paquin Makiko Nakayama Etienne Coyaud Estelle M N Laurent Jonathan R 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 Mao Youying 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 Duijkers Marcia Ferguson David R Fitzpatrick Roger Fick Ian A Glass Peter J Hulick Antonie D Kline Ilona Krey Selvin Kumar Weining Lu Elysa J Marco Ingrid M Wentzensen Heather C Mefford Konrad Platzer Inna S Povolotskaya Juliann M Savatt Natalia V Shcherbakova Prabha Senguttuvan Audrey E Squire Deborah R Stein Isabelle Thiffault Victoria Y Voinova Michael J G Somers Michael A Ferguson Avram Z Traum Ghaleb H Daouk Ankana Daga Nancy M Rodig Paulien A Terhal Ellen van Binsbergen Loai A Eid Velibor Tasic Hila Milo Rasouly Tze Y Lim Dina F Ahram Ali G Gharavi Heiko M Reutter Heidi L Rehm Daniel G MacArthur Monkol Lek Kristen M Laricchia Richard P Lifton Hong Xu Shrikant M Mane Simone Sanna-Cherchi Andrew D Sharrocks Brian Raught Simon E Fisher Maxime Bouchard Mustafa K Khokha Shirlee Shril Friedhelm Hildebrandt

Am J Hum Genet 2020 10 4;107(4):727-742. Epub 2020 Sep 4.

Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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October 2020

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 variants to minors and their parents.

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

BMC Pediatr 2020 05 15;20(1):222. Epub 2020 May 15.

Genomic Medicine Institute, Geisinger, Danville, PA, USA.

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May 2020

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

Authors:
Miranda L G Hallquist Eric P Tricou Michael N Hallquist Juliann M Savatt Heather Rocha Alyson E Evans Nicole Deckard Yirui Hu H Lester Kirchner Josie Pervola Alanna Kulchak Rahm Misha Rashkin Tara J Schmidlen Marci L B Schwartz Janet L Williams Marc S Williams Adam H Buchanan

Genet Med 2020 Aug 30;22(8):1348-1354. Epub 2020 Apr 30.

Geisinger, Danville, PA, USA.

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August 2020

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

Authors:
Karen E Wain Danielle R Azzariti Jennifer L Goldstein Amy Knight Johnson Patti Krautscheid Brianna Lepore Julianne M O'Daniel Deborah Ritter Juliann M Savatt Erin Rooney Riggs Christa Lese Martin

Genet Med 2020 04 22;22(4):785-792. Epub 2019 Nov 22.

Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.

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April 2020

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

Authors:
Laura V Vandervore Rachel Schot Chiara Milanese Daphne J Smits Esmee Kasteleijn Andrew E Fry Daniela T Pilz Stefanie Brock Esra Börklü-Yücel 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 Bertoli-Avella Amal Al Hashem Abdulmalik A Alwabel Kalthoum Tlili-Graiess Stephanie Efthymiou Faisal Zafar Nuzhat Rana Farah Bibi Henry Houlden Reza Maroofian Richard E 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 C Jansen Johan M Kros Robert M Verdijk Nataša Jovanov Milošević Maarten Fornerod Pier Giorgio Mastroberardino Grazia M S Mancini

Am J Hum Genet 2019 12 14;105(6):1126-1147. Epub 2019 Nov 14.

Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands. Electronic address:

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December 2019

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

Authors:
Kandamurugu Manickam Adam H Buchanan Marci L B Schwartz Miranda L G Hallquist Janet L Williams Alanna Kulchak Rahm Heather Rocha Juliann M Savatt Alyson E Evans Loren M Butry Amanda L Lazzeri D'Andra M Lindbuchler Carroll N Flansburg Rosemary Leeming Victor G Vogel Matthew S Lebo Heather M Mason-Suares Derick C Hoskinson Noura S Abul-Husn Frederick E Dewey John D Overton Jeffrey G Reid Aris Baras Huntington F Willard Cara Z McCormick Sarath B Krishnamurthy Dustin N Hartzel Korey A Kost Daniel R Lavage Amy C Sturm Lauren R Frisbie T Nate Person Raghu P 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

JAMA Netw Open 2018 09 7;1(5):e182140. Epub 2018 Sep 7.

Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.

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September 2018

The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.

Authors:
Karen E Wain Emily Palen Juliann M Savatt Devin Shuman Brenda Finucane Andrea Seeley Thomas D Challman Scott M Myers Christa Lese Martin

Hum Mutat 2018 11;39(11):1660-1667

Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.

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November 2018

ClinGen's GenomeConnect registry enables patient-centered data sharing.

Authors:
Juliann M Savatt Danielle R Azzariti W Andrew Faucett Steven Harrison Jennifer Hart Brandi Kattman Melissa J Landrum David H Ledbetter Vanessa Rangel Miller Emily Palen Heidi L Rehm Jud Rhode Stefanie Turner Jo Anne Vidal Karen E Wain Erin Rooney Riggs Christa Lese Martin

Hum Mutat 2018 11;39(11):1668-1676

Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.

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November 2018

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

Authors:
Heather Mae Rocha Juliann M Savatt Erin Rooney Riggs Jennifer K Wagner W Andrew Faucett Christa Lese Martin

J Genet Couns 2018 04 13;27(2):470-480. Epub 2017 Nov 13.

Genomic Medicine Institute, Geisinger, 100 N Academy Ave, MC 26-20, Danville, PA, 17822, USA.

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April 2018