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Office
New England Newborn Screening Prg
305 South Street
Jamaica Plain, MA 02130Phone+1 617-983-6300
Summary
- Dr. Inderneel Sahai, MD is a medical geneticist in Jamaica Plain, Massachusetts.
Publications & Presentations
PubMed
- Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.Lauren O Grady, Emilie S Zoltick, Hana Zouk, Wei He, Emma Perez
American Journal of Medical Genetics. Part A. 2024-11-19 - 6 citationsSystematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.Rebecca I Torene, Maria J Guillen Sacoto, Francisca Millan, Zhancheng Zhang, Stephen McGee
American Journal of Human Genetics. 2024-01-04 - Atlantoaxial instability associated with ALDH18A1 mutation.Alexandra T Lucas, Angela E Lin, Andrew Cohen, William Muñoz, Kristopher T Kahle
American Journal of Medical Genetics. Part A. 2023-12-01