Publications by authors named "Bradford Powell"

50Publications

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.

Authors:
Laura M Amendola Kathleen Muenzen Leslie G Biesecker Kevin M Bowling Greg M Cooper Michael O Dorschner Catherine Driscoll Ann Katherine M Foreman Katie Golden-Grant John M Greally Lucia Hindorff Dona Kanavy Vaidehi Jobanputra Jennifer J Johnston Eimear E Kenny Shannon McNulty Priyanka Murali Jeffrey Ou Bradford C Powell Heidi L Rehm Bradley Rolf Tamara S Roman Jessica Van Ziffle Saurav Guha Avinash Abhyankar David Crosslin Eric Venner Bo Yuan Hana Zouk Gail P Jarvik

Am J Hum Genet 2020 11 26;107(5):932-941. Epub 2020 Oct 26.

Department of Medicine, Division of Medical Genetics, University of Washington Medical Center, Seattle, WA 98195, USA.

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November 2020

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.

Authors:
Tamara S Roman Stephanie B Crowley Myra I Roche Ann Katherine M Foreman Julianne M O'Daniel Bryce A Seifert Kristy Lee Alicia Brandt Chelsea Gustafson Daniela M DeCristo Natasha T Strande Lori Ramkissoon Laura V Milko Phillips Owen Sayanty Roy Mai Xiong Ryan S Paquin Rita M Butterfield Megan A Lewis Katherine J Souris Donald B Bailey Christine Rini Jessica K Booker Bradford C Powell Karen E Weck Cynthia M Powell Jonathan S Berg

Am J Hum Genet 2020 10 26;107(4):596-611. Epub 2020 Aug 26.

Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. Electronic address:

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October 2020

Rosai-Dorfman Disease and Exocrine Pancreatic Insufficiency in a Patient With a Germline SLC29A3 Mutation.

Authors:
Julie Blatt Preeti Parekh Bradford C Powell Yuri Fedoriw Indira Reddy Nathan D Montgomery

J Pediatr Hematol Oncol 2020 Aug 4. Epub 2020 Aug 4.

The Lineberger Comprehensive Cancer Center.

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August 2020

Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.

Authors:
Neeta L Vora Kelly Gilmore Alicia Brandt Chelsea Gustafson Natasha Strande Lori Ramkissoon Emily Hardisty Ann Katherine M Foreman Kirk Wilhelmsen Phillips Owen Karen E Weck Jonathan S Berg Cynthia M Powell Bradford C Powell

Genet Med 2020 Aug;22(8):1426

Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

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August 2020

An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.

Authors:
Neeta L Vora Kelly Gilmore Alicia Brandt Chelsea Gustafson Natasha Strande Lori Ramkissoon Emily Hardisty Ann Katherine M Foreman Kirk Wilhelmsen Phillips Owen Karen E Weck Jonathan S Berg Cynthia M Powell Bradford C Powell

Genet Med 2020 05 24;22(5):954-961. Epub 2020 Jan 24.

Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

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May 2020

Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty.

Authors:
Margaret Waltz Anya E R Prince Julianne M O'Daniel Ann Katherine M Foreman Bradford C Powell Jonathan S Berg

J Genet Couns 2020 Dec 22;29(6):949-959. Epub 2020 Jan 22.

Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

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December 2020

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Authors:
Dona M Kanavy Shannon M McNulty Meera K Jairath Sarah E Brnich Chris Bizon Bradford C Powell Jonathan S Berg

Genome Med 2019 11 29;11(1):77. Epub 2019 Nov 29.

Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

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November 2019

An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.

Authors:
Laura V Milko Julianne M O'Daniel Daniela M DeCristo Stephanie B Crowley Ann Katherine M Foreman Kathleen E Wallace Lonna F Mollison Natasha T Strande Zahra S Girnary Lacey J Boshe Arthur S Aylsworth Muge Gucsavas-Calikoglu Dianne M Frazier Neeta L Vora Myra I Roche Bradford C Powell Cynthia M Powell Jonathan S Berg

J Pediatr 2019 06 7;209:68-76. Epub 2019 Mar 7.

Department of Genetics, UNC Chapel Hill, Chapel Hill, NC. Electronic address:

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June 2019

ClinGen Allele Registry links information about genetic variants.

Authors:
Piotr Pawliczek Ronak Y Patel Lillian R Ashmore Andrew R Jackson Chris Bizon Tristan Nelson Bradford Powell Robert R Freimuth Natasha Strande Neethu Shah Sameer Paithankar Matt W Wright Selina Dwight Jimmy Zhen Melissa Landrum Peter McGarvey Larry Babb Sharon E Plon Aleksandar Milosavljevic

Hum Mutat 2018 11;39(11):1690-1701

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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November 2018

Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings.

Authors:
Myra I Roche Ida Griesemer Cynthia M Khan Elizabeth Moore Feng-Chang Lin Julianne M O'Daniel Ann Katherine M Foreman Kristy Lee Bradford C Powell Jonathan S Berg James P Evans Gail E Henderson Christine Rini

Genet Med 2019 05 21;21(5):1092-1099. Epub 2018 Sep 21.

John Theuer Cancer Center, Hackensack University Medical Center, Hackensack, NJ, USA.

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May 2019

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.

Authors:
Laura M Amendola Jonathan S Berg Carol R Horowitz Frank Angelo Jeannette T Bensen Barbara B Biesecker Leslie G Biesecker Gregory M Cooper Kelly East Kelly Filipski Stephanie M Fullerton Bruce D Gelb Katrina A B Goddard Benyam Hailu Ragan Hart Kristen Hassmiller-Lich Galen Joseph Eimear E Kenny Barbara A Koenig Sara Knight Pui-Yan Kwok Katie L Lewis Amy L McGuire Mary E Norton Jeffrey Ou Donald W Parsons Bradford C Powell Neil Risch Mimsie Robinson Christine Rini Sarah Scollon Anne M Slavotinek David L Veenstra Melissa P Wasserstein Benjamin S Wilfond Lucia A Hindorff Sharon E Plon Gail P Jarvik

Am J Hum Genet 2018 09;103(3):319-327

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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September 2018

Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol.

Authors:
Laura V Milko Christine Rini Megan A Lewis Rita M Butterfield Feng-Chang Lin Ryan S Paquin Bradford C Powell Myra I Roche Katherine J Souris Donald B Bailey Jonathan S Berg Cynthia M Powell

Trials 2018 Jun 28;19(1):344. Epub 2018 Jun 28.

Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.

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June 2018

Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings.

Authors:
Kurt D Christensen Barbara A Bernhardt Gail P Jarvik Lucia A Hindorff Jeffrey Ou Sawona Biswas Bradford C Powell Robert W Grundmeier Kalotina Machini Dean J Karavite Jeffrey W Pennington Ian D Krantz Jonathan S Berg Katrina A B Goddard

Genet Med 2018 10 1;20(10):1186-1195. Epub 2018 Feb 1.

Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon, USA.

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October 2018

The who, what, and why of research participants' intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study.

Authors:
Christine Rini Cynthia M Khan Elizabeth Moore Myra I Roche James P Evans Jonathan S Berg Bradford C Powell Giselle Corbie-Smith Ann Katherine M Foreman Ida Griesemer Kristy Lee Julianne M O'Daniel Gail E Henderson

Genet Med 2018 07 26;20(7):760-769. Epub 2017 Oct 26.

Center for Genomics and Society, University of North Carolina, Chapel Hill, North Carolina, USA.

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July 2018

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.

Authors:
Rashesh V Sanghvi Christian J Buhay Bradford C Powell Ellen A Tsai Michael O Dorschner Celine S Hong Matthew S Lebo Ariella Sasson David S Hanna Sean McGee Kevin M Bowling Gregory M Cooper David E Gray Robert J Lonigro Andrew Dunford Christine A Brennan Carrie Cibulskis Kimberly Walker Mauricio O Carneiro Joshua Sailsbery Lucia A Hindorff Dan R Robinson Avni Santani Mahdi Sarmady Heidi L Rehm Leslie G Biesecker Deborah A Nickerson Carolyn M Hutter Levi Garraway Donna M Muzny Nikhil Wagle

Genet Med 2018 08 16;20(8):855-866. Epub 2017 Nov 16.

Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

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August 2018

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.

Authors:
Neeta L Vora Bradford Powell Alicia Brandt Natasha Strande Emily Hardisty Kelly Gilmore Ann Katherine M Foreman Kirk Wilhelmsen Chris Bizon Jason Reilly Phil Owen Cynthia M Powell Debra Skinner Christine Rini Anne D Lyerly Kim A Boggess Karen Weck Jonathan S Berg James P Evans

Genet Med 2017 11 18;19(11):1207-1216. Epub 2017 May 18.

Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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November 2017

Finding the Rare Pathogenic Variants in a Human Genome.

Authors:
James P Evans Bradford C Powell Jonathan S Berg

JAMA 2017 05;317(18):1904-1905

Department of Genetics, University of North Carolina at Chapel Hill.

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May 2017

Newborn Sequencing in Genomic Medicine and Public Health.

Authors:
Jonathan S Berg Pankaj B Agrawal Donald B Bailey Alan H Beggs Steven E Brenner Amy M Brower Julie A Cakici Ozge Ceyhan-Birsoy Kee Chan Flavia Chen Robert J Currier Dmitry Dukhovny Robert C Green Julie Harris-Wai Ingrid A Holm Brenda Iglesias Galen Joseph Stephen F Kingsmore Barbara A Koenig Pui-Yan Kwok John Lantos Steven J Leeder Megan A Lewis Amy L McGuire Laura V Milko Sean D Mooney Richard B Parad Stacey Pereira Joshua Petrikin Bradford C Powell Cynthia M Powell Jennifer M Puck Heidi L Rehm Neil Risch Myra Roche Joseph T Shieh Narayanan Veeraraghavan Michael S Watson Laurel Willig Timothy W Yu Tiina Urv Anastasia L Wise

Pediatrics 2017 Feb 17;139(2). Epub 2017 Jan 17.

National Human Genome Research Institute and.

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February 2017

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.

Authors:
Ronak Y Patel Neethu Shah Andrew R Jackson Rajarshi Ghosh Piotr Pawliczek Sameer Paithankar Aaron Baker Kevin Riehle Hailin Chen Sofia Milosavljevic Chris Bizon Shawn Rynearson Tristan Nelson Gail P Jarvik Heidi L Rehm Steven M Harrison Danielle Azzariti Bradford Powell Larry Babb Sharon E Plon Aleksandar Milosavljevic

Genome Med 2017 01 12;9(1). Epub 2017 Jan 12.

Baylor College of Medicine, Houston, TX, 77030, USA.

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January 2017

Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs.

Authors:
Jason Saliba Ryan Zabriskie Rajarshi Ghosh Bradford C Powell Stephanie Hicks Marek Kimmel Qingchang Meng Deborah I Ritter David A Wheeler Richard A Gibbs Francis T F Tsai Sharon E Plon

Pharmacogenet Genomics 2016 06;26(6):271-9

Departments of aMolecular and Human Genetics bBiochemistry and Molecular Biology cMolecular and Cellular Biology dHuman Genome Sequencing Center, Baylor College of Medicine eDepartment of Pediatrics, Texas Children's Cancer Center, Baylor College of Medicine fDepartment of Statistics, Rice University, Houston, Texas, USA.

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June 2016