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Author Details

Amy Brower
American College of Medical Genetics and Genomics
1998
31
13
PMIDPaper TitleJournal TitlePublished Year
36594517Data sharing to advance gene-targeted therapies in rare diseases.Am J Med Genet C Semin Med Genet2023
37663526Newborn sequencing is only part of the solution for better child health.Lancet Reg Health Am2023
37479106Factors influencing creatine kinase-MM concentrations in newborns and implications for newborn screening for Duchenne muscular dystrophy.Clin Biochem2023
37987476NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders.Int J Neonatal Screen2023
37350320Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.Ann Clin Transl Neurol2023
36738469Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies.Am J Med Genet C Semin Med Genet2023
36152336Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy.Am J Med Genet C Semin Med Genet2022
35692825Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.Front Genet2022
36214312Special issue: Newborn screening research.Am J Med Genet C Semin Med Genet2022
36278620Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot.Int J Neonatal Screen2022
35938011Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).Front Genet2022
36118861Population-based screening of newborns: Findings from the newborn screening expansion study (part two).Front Genet2022
33264411The Human Phenotype Ontology in 2021.Nucleic Acids Res2021
35619984Accelerating the Pace of Newborn Screening Research to Advance Disease Understanding and Improve Health Outcomes:: Key Efforts of the Newborn Screening Translational Research Network (NBSTRN).Dela J Public Health2021
34208910The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts.Int J Neonatal Screen2021
30393376Foundation of the Newborn Screening Translational Research Network and its tools for research.Genet Med2019
31839987FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation.NPJ Genom Med2019
30100612Including ELSI research questions in newborn screening pilot studies.Genet Med2019
33072932Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations.Int J Neonatal Screen2018
28096516Newborn Sequencing in Genomic Medicine and Public Health.Pediatrics2017
27268406A framework for assessing outcomes from newborn screening: on the road to measuring its promise.Mol Genet Metab2016
24139498Primary Immune Deficiency Treatment Consortium (PIDTC) report.J Allergy Clin Immunol2014
25138334Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.JAMA2014
21150372Long-term follow-up in newborn screening: A systems approach for improving health outcomes.Genet Med2010
18250228CYP4F2 genetic variant alters required warfarin dose.Blood2008
17873728Impact of oral hygiene on prevention of ventilator-associated pneumonia in neuroscience patients.J Nurs Care Qual2007
18007148Committee Report: advancing the current recommended panel of conditions for newborn screening.Genet Med2007
15503566Reading disability and chromosome 6p21.3: evaluation of MOG as a candidate gene.J Learn Disabil2001
9915954Quantitative-trait locus for specific language and reading deficits on chromosome 6p.Am J Hum Genet1999
10088931Prediction of early-onset asthma in genetically at-risk children.Pediatr Pulmonol1999
9549238Molecular approaches to the genetic analysis of specific reading disability.Hum Biol1998
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Collaborators

Susan A Berry
University of Minnesota
Co-authored papers 4
Ingrid A Holm
Harvard Medical School
Co-authored papers 4
Aaron J Goldenberg
Case Western Reserve University
Co-authored papers 4
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 4
Stephen F Kingsmore
Rady Children's Institute for Genomic Medicine
Co-authored papers 3
Timothy W Yu
Harvard Medical School
Co-authored papers 3
Erika F Augustine
Johns Hopkins University School of Medicine
Co-authored papers 2
Charlotte Cunningham-Rundles
Precision Immunology Institute, Icahn School of Medicine at Mount Sinai
Co-authored papers 2
Alan H Beggs
Broad Institute of MIT and Harvard
Co-authored papers 2
Barbara A Koenig
University of California-San Francisco.
Co-authored papers 2
Amy L McGuire
Baylor College of Medicine.
Co-authored papers 2
Robert C Green
Brigham and Women's Hospital, Broad Institute Ariadne Labs and Harvard Medical School
Co-authored papers 2
Jonathan S Berg
University of North Carolina
Co-authored papers 2
Julia Wynn
Vagelos College of Physicians and Surgeons, Columbia University
Co-authored papers 2
Yaron Turpaz
Pte. Ltd.
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Michael J Hartnett
American College of Medical Genetics and Genomics (ACMG)
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Megan A Lewis
Center for Communication Science
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Ashok Veeraraghavan
Rice University
Co-authored papers 1
Christina K Rapp
Ludwig-Maximilians University, German Center for Lung Research (DZL)
Co-authored papers 1
Matthew H Porteus
Stanford University
Co-authored papers 1
Gareth Baynam
King Edward Memorial Hospital
Co-authored papers 1
Fabian Hauck
Department of Pediatrics at the Dr. von Hauner Children's Hospital
Co-authored papers 1
Matthias Griese
University of Munich, German Center for Lung Research (DZL)
Co-authored papers 1
Yarlalu Thomas
Co-authored papers 1
Heidi Cope
GenOmics and Translational Research Center
Co-authored papers 1
Tiffany J Callahan
Columbia University
Co-authored papers 1
Shiva Ganesan
Children's Hospital of Philadelphia
Co-authored papers 1
Maximilian Hastreiter
Dr. von Hauner Children's Hospital
Co-authored papers 1
Lon R Cardon
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Hugh Kearney
St. Vincent's University Hospital
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