Elizabeth M. Heise

Outcome and life satisfaction of adults with myelomeningocele

Heidi Cope, Kelly McMahon, Elizabeth M. Heise et al. · Disability and health journal · 2013 · 52 citations · Full text

Medicine, Surgery, Outcomes Research +7

Genetic Risk Communication: Experiences of Adolescent Girls and Young Women from Families with Fragile X Syndrome

Allyn McConkie‐Rosell, Elizabeth M. Heise, Gail A. Spiridigliozzi · Journal of Genetic Counseling · 2009 · 41 citations · Full text

Public Health, Communication, Genetics +17

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

Sarah Stephenson, Gregory Costain, Laura E.R. Blok et al. · The American Journal of Human Genetics · 2022 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases

Rebecca I. Torene, María J. Guillen Sacoto, Francisca Millan et al. · The American Journal of Human Genetics · 2023 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

When to tell and test for genetic carrier status: Perspectives of adolescents and young adults from fragile X families

Ramsey M. Wehbe, Gail A. Spiridigliozzi, Elizabeth M. Heise et al. · American Journal of Medical Genetics Part A · 2009 · 26 citations · Full text

Life Sciences, Genetics, Psychology +16