Jessica Scott Schwoerer

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Sara Reynhout, Sandra Jansen, Dorien Haesen et al. · The American Journal of Human Genetics · 2018 · 59 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy

Allison Tam, Noura S. AlDhaheri, Krupa R. Mysore et al. · American Journal of Medical Genetics Part A · 2019 · 35 citations · Full text

Life Sciences, Biochemistry, Pharmacology +17

Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations

Patrice K. Held, Emily Singh, Jessica Scott Schwoerer · International Journal of Neonatal Screening · 2022 · 32 citations · Full text

Medicine, Child Health, Pediatrics +14

<i>MECP2</i>duplication: Possible cause of severe phenotype in females

Jessica Scott Schwoerer, Jennifer Laffin, Joanne M. Haun et al. · American Journal of Medical Genetics Part A · 2014 · 27 citations

Life Sciences, Genetics, Molecular Genetics +17

Long-term outcomes in Amish patients diagnosed with propionic acidemia

Jessica Scott Schwoerer, Sarah Clowes Candadai, Patrice K. Held · Molecular Genetics and Metabolism Reports · 2018 · 24 citations · Full text

Medicine, Pediatrics, Early Detection +14