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Elizabeth Heise

Explore the profile of Elizabeth Heise including associated specialties, affiliations and a list of published articles. Areas
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Citations 16
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Recent Articles
1.
Torene R, Guillen Sacoto M, Millan F, Zhang Z, McGee S, Oetjens M, et al.
Am J Hum Genet . 2023 Dec; 111(1):70-81. PMID: 38091987
Protein-truncating variants (PTVs) near the 3' end of genes may escape nonsense-mediated decay (NMD). PTVs in the NMD-escape region (PTVescs) can cause Mendelian disease but are difficult to interpret given...
2.
Cope H, McMahon K, Heise E, Eubanks S, Garrett M, Gregory S, et al.
Disabil Health J . 2013 Jun; 6(3):236-43. PMID: 23769483
Background: Myelomeningocele (MMC) commonly causes impairments in body structure and functions as well as cognitive disabilities that can have an adverse effect on adult life. Improved medical care has resulted...