Rebecca I. Torene

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 633 citations · Full text

Mendelian Disorder, Medicine, Genetic Epidemiology +9

IL-17A inhibition by secukinumab induces early clinical, histopathologic, and molecular resolution of psoriasis

James G. Krueger, Keith A. Wharton, Thomas Schlitt et al. · Journal of Allergy and Clinical Immunology · 2019 · 175 citations

Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders

Tychele N. Turner, Amy B. Wilfert, Trygve E. Bakken et al. · The American Journal of Human Genetics · 2019 · 172 citations · Full text

Brain Development, Genetics, Psychiatric Genetics +7

Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy

Andrés Moreno-De-Luca, Francisca Millan, Denis R. Pesacreta et al. · JAMA · 2021 · 119 citations · Full text

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

Alban Ziegler, Carrie Koval‐Burt, Denise M. Kay et al. · JAMA · 2024 · 78 citations · Full text