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NY ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
Wasserstein, M. & Wasserstein, M. P.
National Institute of Child Health and Human Development
4/09/12 → 31/07/23
Project: Research
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Incorporating genomics into the clinical care of diverse NYC children
Kenny, E., Gelb, B., Horowitz, C. & Wasserstein, M.
National Human Genome Research Institute
4/08/17 → 31/05/18
Project: Research
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Niemann-Pick disease: Genotype/phenotype analyses and molecular based therapy
National Niemann-Pick Disease Foundation
1/10/14 → 31/10/18
Project: Research
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PATHOPHYSIOLOGY/OUTCOME OF EARLY TREATED PHENYLKETONURIA
National Center for Research Resources
1/10/99 → 30/09/01
Project: Research
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PATHOPHYSIOLOGY/OUTCOME OF EARLY TREATED PHENYLKETONURIA
National Center for Research Resources
1/10/99 → 30/09/01
Project: Research
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A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results
Wasserstein, M., Lachmann, R., Hollak, C., Arash-Kaps, L., Barbato, A., Gallagher, R. C., Giugliani, R., Guelbert, N. B., Ikezoe, T., Lidove, O., Mabe, P., Mengel, E., Scarpa, M., Senates, E., Tchan, M., Villarrubia, J., Chen, Y., Furey, S., Thurberg, B. L., Zaher, A., & 1 others , Jul 2022, In: Genetics in Medicine. 24, 7, p. 1425-1436 12 p.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations -
Detection of mosaic variants using genome sequencing in a large pediatric cohort
Odgis, J. A., Gallagher, K. M., Rehman, A. U., Marathe, P. N., Bonini, K. E., Sebastin, M., Di Biase, M., Brown, K., Kelly, N. R., Ramos, M. A., Thomas-Wilson, A., Guha, S., Okur, V., Ganapathi, M., Elkhoury, L., Edelmann, L., Zinberg, R. E., Abul-Husn, N. S., Diaz, G. A., Greally, J. M., & 6 others , 2022, (Accepted/In press) In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
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Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
Brower, A., Chan, K., Williams, M., Berry, S., Currier, R., Rinaldo, P., Caggana, M., Gaviglio, A., Wilcox, W., Steiner, R., Holm, I. A., Taylor, J., Orsini, J. J., Brunelli, L., Adelberg, J., Bodamer, O., Viall, S., Scharfe, C., Wasserstein, M., Chen, J. Y., & 7 others , 22 Jul 2022, In: Frontiers in Genetics. 13, 867337.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus
Kishnani, P. S., Al-Hertani, W., Balwani, M., Göker-Alpan, Ö., Lau, H. A., Wasserstein, M., Weinreb, N. J. & Grabowski, G., Feb 2022, In: Molecular Genetics and Metabolism. 135, 2, p. 154-162 9 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Whole-genome sequencing holds the key to the success of gene-targeted therapies
Vockley, J., Aartsma-Rus, A., Cohen, J. L., Cowsert, L. M., Howell, R. R., Yu, T. W., Wasserstein, M. P. & Defay, T., 2022, (Accepted/In press) In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics.Research output: Contribution to journal › Comment/debate
Press / Media
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Genomic Newborn Screening Studies Around the World Begin to Take Baby Steps
10/10/22
2 items of Media coverage
Press/Media
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DART to the Finish Charity Walk Raises $175,000 for Rare Childhood Disease Niemann-Pick type C
8/10/22
1 item of Media coverage
Press/Media
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