Christina G. Tise

From Genotype to Phenotype: Nonsense Variants in <i>SLC13A1</i> Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases

Christina G. Tise, James A. Perry, Leslie E. Anforth et al. · G3 Genes Genomes Genetics · 2016 · 17 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Molecular testing in newborn screening: VUS burden among true positives and secondary reproductive limitations via expanded carrier screening panels

Sabina Cook, Emily Dunn, Jenna Kornish et al. · Genetics in Medicine · 2023 · 17 citations · Full text

Medicine, Genetics, Molecular Genetics +17

<scp>Aicardi‐Goutières</scp> syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy

Christina G. Tise, Andrés Morales, Ariel S. Lee et al. · American Journal of Medical Genetics Part A · 2021 · 14 citations

Medicine, Endocrinology, Pediatrics +14

GREGoR: accelerating genomics for rare diseases

Moez Dawood, Ben Heavner, Marsha M. Wheeler et al. · Nature · 2025 · 14 citations · Full text

Life Sciences, Bioinformatics, Genetics +11

<scp><i>MT‐ATP6</i></scp> mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype

Christina G. Tise, Courtney P. Verscaj, Bryce A. Mendelsohn et al. · American Journal of Medical Genetics Part A · 2023 · 11 citations

Life Sciences, Biochemistry, Molecular Genetics +17