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Collaborations and top research areas from the last five years
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Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results
Wasserstein, M. P., Hollak, C. E., Barbato, A., Gallagher, R. C., Giugliani, R., Guelbert, N. B., Hennermann, J. B., Ikezoe, T., Lachmann, R., Lidove, O., Mabe, P., Mengel, E., Scarpa, M., Senates, E., Tchan, M., Thurberg, B. L., Villarrubia, J., Armstrong, N. M., Bhushan, S. & Kim, Y. & 1 others, , May 2026, In: Journal of Inherited Metabolic Disease. 49, 3, e70192.Research output: Contribution to journal › Article › peer-review
Open Access -
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing
Downie, L., Yeo, J., Minten, T., Heald, R., Ansel, D., Baker, M., Balciuniene, J., Berg, J. S., Boemer, F., Chung, W. K., Cope, H. L., Eckstein, D. J., Encina, N., Faivre, L., Ferlini, A., García-Villoria, J., Gelb, M. H., González De Aledo-Castillo, J. M., Golden-Grant, K. & Parad, R. B. & 266 others, , Jan 2026, In: Genetics in Medicine. 28, 1, 101618.Research output: Contribution to journal › Article › peer-review
Open Access -
Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals
Mistry, P. K., Cassiman, D., Jones, S. A., Lachmann, R., Lukina, E., Prada, C. E., Wasserstein, M. P., Thurberg, B. L., Foster, M. C., Patel, R. M., Underhill, L. H. & Peterschmitt, M. J., Jan 2025, In: Hepatology Communications. 9, 1, e0621.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Automated extraction of functional biomarkers of verbal and ambulatory ability from multi-institutional clinical notes using large language models
Brain Gene Registry Consortium, Dec 2025, In: Journal of Neurodevelopmental Disorders. 17, 1, 24.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Data-driven consideration of genetic disorders for global genomic newborn screening programs
ICoNS Gene List Contributors & International Consortium on Newborn Sequencing (ICoNS), Jul 2025, In: Genetics in Medicine. 27, 7, 101443.Research output: Contribution to journal › Article › peer-review
Open Access22 Scopus citations
Press/Media
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Icahn School of Medicine at Mount Sinai Researchers Provide Details of New Studies and Findings in the Area of Genetics (Patient and providers' perspectives on using the GUIA digital tool to enhance genomic results disclosure)
Odgis, J., Kenny, E., Zinberg, R., Horowitz, C., Wasserstein, M., Diaz, G., Abul-Husn, N., Gelb, B. & Bonini, K.
10/10/25
1 item of Media coverage
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FIRST U.S. NATIONAL GENOMIC NEWBORN SCREENING INITIATIVE LAUNCHED WITH $14.4 MILLION NIH AWARD
2/10/25
1 item of Media coverage
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GeneDx Announces First U.S. National Genomic Newborn Screening Initiative Launched with $14.4 Million NIH Award; 'BEACONS,' a multi-state collaboration led by Mass General Brigham and Ariadne Labs, will enroll up to 30,000 newborns to explore adding genom
1/10/25 → 2/10/25
14 items of Media coverage
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Petrovax Pharm: The scientist-developer of the enzyme replacement therapy for Fabry disease from the USA highly appreciated the Russian bioanalogue Fabagal
20/05/25
1 item of Media coverage
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Reports from Icahn School of Medicine at Mount Sinai Add New Data to Findings in Telemedicine (Investigating the Impact of Screen-sharing Visual Aids During Genomic Results Disclosure Via Telehealth In Diverse Families In the Telekidseq Pilot ...)
Odgis, J., Kenny, E., Zinberg, R., Horowitz, C., Wasserstein, M., Diaz, G., Abul-Husn, N., Gelb, B. & Bonini, K.
17/03/25
1 item of Media coverage
Press/Media