R. RodneyHowellMD

PubMed

• 7 citations
  Whole-genome sequencing holds the key to the success of gene-targeted therapies.
  Jerry Vockley, Annemieke Aartsma-Rus, Lex M Cowsert, R Rodney Howell, Timothy W Yu, Melissa P Wasserstein, Thomas Defay, Cohen, J.> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2023 Mar 1
• 11 citations
  The Progress and Future of US Newborn Screening.
  Michael S Watson, Michele A Lloyd-Puryear, R Rodney Howell> ;International Journal of Neonatal Screening. 2022 Jul 18
• 6 citations
  Ethical Issues Surrounding Newborn Screening
  R. Rodney Howell> ;International Journal of Neonatal Screening. 2021 Jan 9
• A Visit with Dr. Louis Woolf, Recognizing His 100th Birthday and His Contributions to the Diagnosis and Treatment of Phenylketonuria.
  R Rodney Howell, Graham Sinclair> ;International Journal of Neonatal Screening. 2020 Jun 1
• 75 citations
  Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2
  Jacqueline J. Glascock, Jacinda B. Sampson, Anne M. Connolly, Basil T. Darras, John W. Day, Richard S. Finkel, R. Rodney Howell, Katherine W. Klinger, Nancy L. Kuntz, ...> ;Journal of Neuromuscular Diseases. 2020 Jan 1
• 3 citations
  We must now put in place an updated, comprehensive newborn screening program for deaf and hard-of-hearing infants.
  R. Rodney Howell> ;Genetics in Medicine. 2019 Aug 15
• 14 citations
  Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps.
  Mei W. Baker, Robert C. Griggs, Barry J. Byrne, Anne M. Connolly, Richard S. Finkel, Lucja Grajkowska, Amanda M. Haidet-Phillips, Laura Hagerty, Robert J. Ostrander, L...> ;JAMA Neurology. 2019 Aug 1
• 18 citations
  Including ELSI research questions in newborn screening pilot studies
  Aaron J. Goldenberg, Michele A. Lloyd-Puryear, Jeffrey P. Brosco, Bradford L. Therrell, Lynn Wein Bush, Susan A. Berry, Amy Brower, Natasha Bonhomme, Bruce Bowdish, De...> ;Genetics in Medicine. 2019 Mar 1
• 6 citations
  MOVR-NeuroMuscular ObserVational Research, a unified data hub for neuromuscular diseases.
  R. Rodney Howell, Stephan Züchner> ;Genetics in Medicine. 2019 Mar 1
• 20 citations
  Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.
  Annemieke Aartsma-Rus, Madhuri Hegde, Tawfeg Ben-Omran, Filippo Buccella, Alessandra Ferlini, Pia Gallano, R. Rodney Howell, Ann Martin, Anna Potulska-Chromik, Jonas A...> ;The Journal of Pediatrics. 2019 Jan 1
• From a Single Child to Uniform Newborn Screening: My Lucky Life in Pediatric Medical Genetics
  R. Rodney Howell> ;Annual Review of Genomics and Human Genetics. 2018 Aug 31
• 5 citations
  Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations.
  Michele A. Lloyd-Puryear, Thomas O. Crawford, Amy Brower, Kristin Stephenson, Tracy L. Trotter, Edward B. Goldman, Aaron J. Goldenberg, R. Rodney Howell, Annie Kennedy...> ;International Journal of Neonatal Screening. 2018 Jan 25
• 127 citations
  Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening.
  Jacqueline J. Glascock, Jacinda B. Sampson, Amanda M. Haidet-Phillips, Anne M. Connolly, Basil T. Darras, John W. Day, Richard S. Finkel, R. Rodney Howell, Katherine W...> ;Journal of Neuromuscular Diseases. 2018 Jan 1
• 25 citations
  Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment
  Qing Ke, Zhengyan Zhao, Robert C. Griggs, Veronica Wiley, Anne M. Connolly, Jennifer M. Kwon, Ming Qi, Daniel W. Sheehan, Emma Ciafaloni, R. Rodney Howell, Petra Furu,...> ;World Journal of Pediatrics. 2017 May 17
• 46 citations
  Newborn screening for spinal muscular atrophy: Anticipating an imminent need
  Han C. Phan, Jennifer L. Taylor, Harry Hannon, R. Rodney Howell> ;Seminars in Perinatology. 2015 Apr 1
• 3 citations
  Fifty years of newborn screening.
  R. Rodney Howell> ;Molecular Genetics and Metabolism. 2014 Sep 1
• 150 citations
  Phenylketonuria Scientific Review Conference: state of the science and future research needs.
  Kathryn M. Camp, Melissa A. Parisi, Phyllis B. Acosta, Gerard T. Berry, Deborah A. Bilder, Nenad Blau, Olaf Bodamer, Jeffrey P. Brosco, Christine Brown, Alberto Burlin...> ;Molecular Genetics and Metabolism. 2014 Jun 1
• 20 citations
  Appropriateness of newborn screening for α1-antitrypsin deficiency
  Jeffrey Teckman, Erin Pardee, R. Rodney Howell, David M. Mannino, Richard R. Sharp, Mark L. Brantly, Adam Wanner, Jamie Lamson> ;Journal of Pediatric Gastroenterology and Nutrition. 2014 Feb 1
• 15 citations
  Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism.
  Kathryn M. Camp, Michele A. Lloyd-Puryear, Lynne Yao, Stephen C. Groft, Melissa A. Parisi, Andrew E. Mulberg, Rashmi Gopal-Srivastava, Stephen D. Cederbaum, Gregory M....> ;Molecular Genetics and Metabolism. 2013 Aug 1
• 262 citations
  Strategies for Implementing Screening for Critical Congenital Heart Disease
  Alex R. Kemper, William T. Mahle, Gerard R. Martin, W. Carl Cooley, Praveen Kumar, W. Robert Morrow, Kellie Kelm, Gail D. Pearson, Jill Glidewell, Scott D. Grosse, R. ...> ;Pediatrics. 2011 Nov 1
• 47 citations
  Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening.
  Bradford L. Therrell, W. Harry Hannon, Donald B. Bailey, Edward B. Goldman, Jana Monaco, Bent Nørgaard-Pedersen, Sharon F. Terry, Alissa Johnson, R. Rodney Howell> ;Genetics in Medicine. 2011 Jul 1
• 3 citations
  A Disservice to Advances in Newborn Genetic Screening: Comment on Timmermans and Buchbinder
  Michael S. Watson, R. Rodney Howell, Piero Rinaldo> ;Journal of Health and Social Behavior. 2011 Jun 1
• 9 citations
  Secretary's Advisory Committee on Heritable Disorders in Newborns and Children response to the President's Council on Bioethics report: the changing moral focus of new...
  Tracy L. Trotter, Alan R. Fleischman, R. Rodney Howell, Michele A. Lloyd-Puryear> ;Genetics in Medicine. 2011 Apr 1
• 3 citations
  Quality improvement of newborn screening in real time
  R. Rodney Howell> ;Genetics in Medicine. 2011 Mar 1
• 20 citations
  Carrier testing for spinal muscular atrophy
  Jonathan M. Gitlin, Kenneth H. Fischbeck, Thomas O. Crawford, Valerie Cwik, Alan R. Fleischman, Karla Gonye, Deborah Heine, Kenneth Hobby, Petra Kaufmann, Steven Keile...> ;Genetics in Medicine. 2010 Oct 1
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Journal Articles

• Patient Management Problems: Pediatrics.  
  Simon, F.A. and Howell, R.R, Appleton and Lange
• The Role of Human Milk in Infant Nutrition and Health.  
  Howell, R.R., Morriss, F.H. and Pickering, L.K, Thomas, Springfield, Illinois
• The Role of Human Milk in Infant Nutrition and Health.  
  Howell, R.R., Morriss, F.H. and Pickering, L.K, Printed in Japanese, Tuttle-Mori Agency, Inc
• A Look at Newborn Screening: Today and Tomorrow.  
  Edwards. SE. Howell, RR, and Lloyd-Puryear, MA, Pediatrics
• Newborn Screening: Toward a Uniform Screening Panel and System, Genetics in Medicine.  
  Watson, M.S, Mann, M.Y, Lloyd-Puryear, M. A., Rinaldo, P and Howell, R. R. Editors, Supplement
• Newborn Screening.  
  Howell, R. R, Mental Retardation and Developmental Disabilities Research Reviews
• Population Based Newborn Screening for Rare Diseases. Testimony Before the Outreach Hearings of the Social Security Administration on Compassionate Allowances on Rare ...  
  Howell, R. R, Astrue, Commissioner of Social Security
• Diffusion and Use of Genomic Innovations in Health and Medicine. Workshop Summary of the Roundtable on Translating Genomic-Based Research for Health, Institute of Medi...  
  Howell, R. R, National Academies Press
• Newborn Screening.  
  Feero, G, and Howell, R. R, Family Practice News
• Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children.  
  Howell, R. R. and Lloyd-Puryear, M, Genetic Alliance Webinar
• The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children.  
  Howell, R. R. and Lloyd-Puryear, M, Genetic Alliance Webinar
• Genomic Medicine: Newborn Screening.  
  Feero, G and Howell, R. R, Pediatric News
• Pediatricians Fight Anti-Vaccine Bill  
  Howell, R, Health News Florida
• Roundtable Member: Innovations in Service Delivery in the Age of Genomics. Workshop Summary of the Roundtable on Translating Genomic-Based Research Research for Health...  
  Howell, R. R, National Academies Press
• The Fate of Newborn Screening Blood Spots.  
  Grody, W. and Howell, RR, Pediatric Research- Science-In the News
• Growing up in Concord on Forest Hill.  
  Howell, R. R, the magazine of The Historic Cabarrus Association
• Forward to Principals and Practice of Medical Genetics.  
  Howell, R. R, Rimoin, DL, Connor, JM, Pyeritz, RE, and Korf, BR Editors
• Lipid, purine and carbohydrate abnormalities in von Gierke's disease.  
  Howell, R.R., Ashton, D. & Wyngaarden, J.B, J. Clin. Invest
• Cystine metabolism in de Toni-Fanconi syndrome with cystinosis.  
  Seegmiller, J.E. & Howell, R.R, Clin. Res
• The inflammatory response to injected sodium urate.  
  Howell, R.R. & Seegmiller, J.E, Arth. & rheum
• Factors modifying the inflammatory response to injected microcrystalline sodium urate.  
  Malawista, S.E., Howell, R.R. & Seegmiller, J.E, Arth. & Rheum
• A mechanism of action of colchicine in acute gouty arthritis.  
  Seegmiller, J.E., Howell, R.R. & Malawista, S.E, J. Clin
• The enzymatic defect in histidinemia and studies on its genetic transmission.  
  Seegmiller, J.E., Howell, R.R., Jacoby, G.A., Zannoni, V.G. & LaDu, B.N, American Society of Human Genetics
• The occurrence of glycogen storage disease with tophaceous gout.  
  Alepa, F.P., Howell, R.R. & Seegmiller, J.E, Arth. & Rheum
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Books/Book Chapters

• Glycogen Storage Diseases. 
  Chapter: A parent-patient handbook. 
  Howell, R.RHouston
• Advances in Gene Technology: The Molecular Biology of Human Genetic Disease. 
  Chapter: Nucleic Acids Symposium Series No23 
  Howell, R.R., Ahmad, F., Bialy, H., Black, S., Johnson, D.H., Lubs, H.A., Puett, J.D., Rabin, M.B., Scott, W.A. and van Brunt, J. and Whelan, W.J
• Selected screening Tests for Genetic Metabolic Disease. 
  Thomas, G.H. and Howell, R.R.Yearbook Publishers
• The New Newborn Screening. 
  Chapter: Pediatrics Review and Educations Program (PREP Audio), Clinical Conversations with Pediatric Experts. American Academy of Pediatrics. 
  Kemper, A.R., Howell, R. R., and Lloyd-Puryear, M
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Abstracts/Posters

• Systems to Determine Treatment Effectiveness in Newborn Screening, Symposium.
  Howell, R. R, the Law-Medicine Center, Case Western Reserve University School of Law
• False Positives and Cut-Off Levels. In Critical ELSI Issues of Expanded Newborn Screening, in Global Perspectives on Ethical.
  Howell, R. R, Legal and Social Implications of Human Genome Research
• Developing a National Newborn Screening Translational Research Network.
  Howell, R. R., Engelson, GH, and Hanson, JW, 12th Annual International Spinal Muscular Atrophy Research Group Meeting
• Current (Newborn) Screening Policy in the United States, 2008 Congenital Cytomegalovirus Conference.
  Howell, R. R, Centers for Disease Control and Prevention
• Newborn Screening (NBS) in the United States: Decision Making about NBS Panels.
  Howell, R. R, 6th International Society for Newborn Screening, European Regional Meeting in Neonatal Screening
• Completion of the Draft Human Genome Sequence: What Does it Mean for the Practice of Medicine.
  Howell, R.R, Miami Medicine
• Metabolism Trap. People with the hereditary disorder phenylketonuria (PKU) need lifelong treatment.
  Howell, R.R, BottomLine Health
• NIH Consensus Statement: Phenylketonuria (PKU): Screening and Management.
  Howell, R. R, . Inherit. Metab. Diseases
• Newborn Screening-Future Promise: A Uniform Screening Panel.
  Howell, R. R., van Dyck, P. E., Alexander, D. F., Rinaldo, P., and Watson, M. S, American Pediatric Society
• Newborn Screening in the 21st Century: A Research Agenda.
  Howell, R. R, Proceedings of the 2004 Newborn Screening and Genetic Testing Symposium
• DHHS Secretary’s Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children, AAAS Symposium: The Future of Newborn Screening: Science.
  Howell, R. R, Policy and Technology
• Newborn Screening 2005: Some Developments Driving Our Most Common Type of Genetic Testing.
  Howell, R. R, Association of Public Health Laboratories National Meeting
• The Glycogen Storage Diseases.
  Howell, R. R, Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal
• Meeting the Needs for Confirmation and Treatment, PAS State of the Art Plenary Session: Newborn Screening, the Coming Revolution.
  Howell, R. R, Pediatric Academic Societies, San Francisco
• Making Policy for our Children: The Advisory Committee on Heritable Disorders in Newborns and Children.
  Howell, R. R. and Lloyd-Puryear, M, American Society of Human Genetics Annual Meeting
• Newborn Screening in the United States: Issues Surrounding Newborn Screening for Fragile X.
  Howell, R. R, FMR1 Premutation and Premature Ovarian Failure: Worldwide Community Guideline Development
• Newborn Screening in the United States. Strengthening Newborn Screening in North Africa and the Middle East.
  Howell, R. R, Marrakech
• The Advisory Committee on Heritable Disorders and Genetic Diseases: Activities to Date.
  Howell, R. R. and M. Lloyd-Puryear, American College of Medical Genetics
• Newborn Screening Research Activities at the National Institutes of Health.
  Howell, R. R., Engelson, G. H., Hanson, J. W, Pediatric Academic Societies
• International Efforts in Newborn Screening: Establishing a Newborn Screening Network in the Middle East and North Africa.
  Engelson, GH, Krotoski, D, Hanson, JW and Howell, R. R, Pediatric Academic Societies
• International Efforts in Newborn Screening: Establishing a Newborn Screening Network in the Middle East and North Africa.
  Krotoski, D, Engelson, GH, Hanson, JW and Howell, R. R, American College of Medical Genetics
• Newborn Screening Research Activities at the National Institutes of Health.
  Hanson, JW, Engelson, GH and Howell, RR, American College of Medical Genetics
• A National Newborn Screening Research Network: Developing the Framework.
  Hanson, JW, Engelson, GH and Howell, RR, Association of Public Health Laboratories
• Developing Newborn Screening Internationally: Establishing a Newborn Screening Network in the Middle East and North Africa.
  Engelson, GH, Krotoski, D, Hanson, JW and Howell, RR, Association of Public Health Laboratories
• The Advisory Committee on Heritable Disorders and Genetic Diseases: Activities to Date.
  Howell, R. R. and Lloyd-Puryear, M, Association of Public Health Laboratories
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Other

• Cures Require Collaboration: Opinion Article. 
  Howell, R. R
  http://www.miamiherald.com/opinion/other-views/v-print/Story/1441053.html
• The Medical Home is Vital for Quality Newborn Screening. 
  Howell, R. R, Pediatric News
  http://www.pediatricnews.com