• 3901 Citations
1960 …2020

Research output per year

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Research Output

Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

Glascock, J., Sampson, J., Connolly, A. M., Darras, B. T., Day, J. W., Finkel, R., Howell, R. R., Klinger, K. W., Kuntz, N., Prior, T., Shieh, P. B., Crawford, T. O., Kerr, D. & Jarecki, J., 2020, In : Journal of neuromuscular diseases. 7, 2, p. 97-100 4 p.

Research output: Contribution to journalLetter

Open Access
1 Scopus citations

Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

Aartsma-Rus, A., Hegde, M., Ben-Omran, T., Buccella, F., Ferlini, A., Gallano, P., Howell, R. R., Leturcq, F., Martin, A. S., Potulska-Chromik, A., Saute, J. A., Schmidt, W. M., Sejersen, T., Tuffery-Giraud, S., Uyguner, Z. O., Witcomb, L. A., Yau, S. & Nelson, S. F., Jan 2019, In : Journal of Pediatrics. 204, p. 305-313.e14

Research output: Contribution to journalComment/debate

5 Scopus citations

Including ELSI research questions in newborn screening pilot studies

for the Bioethics and Legal Workgroup of the Newborn Screening Translational Research Network, Mar 1 2019, In : Genetics in Medicine. 21, 3, p. 525-533 9 p.

Research output: Contribution to journalArticle

  • Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps

    Baker, M., Griggs, R., Byrne, B., Connolly, A. M., Finkel, R., Grajkowska, L., Haidet-Phillips, A., Hagerty, L., Ostrander, R., Orlando, L., Swoboda, K., Watson, M. & Howell, R. R., Aug 2019, In : JAMA Neurology. 76, 8, p. 978-983 6 p.

    Research output: Contribution to journalReview article

  • 3 Scopus citations