Carolyn Applegate

Diagnostic utility of telomere length testing in a hospital-based setting

Jonathan K. Alder, Vidya Sagar Hanumanthu, Margaret A. Strong et al. · Proceedings of the National Academy of Sciences · 2018 · 267 citations · Full text

Loss-of-function mutations in the RNA biogenesis factor <i>NAF1</i> predispose to pulmonary fibrosis–emphysema

Susan E. Stanley, Dustin L. Gable, Christa L. Wagner et al. · Science Translational Medicine · 2016 · 199 citations · Full text

Advanced Lung Disease, Lung Inflammation, Genetics +17

Short telomere syndromes cause a primary T cell immunodeficiency

Christa L. Wagner, Vidya Sagar Hanumanthu, C. Conover Talbot et al. · Journal of Clinical Investigation · 2018 · 116 citations · Full text

Lymphocyte Development, Immunodeficiencies, T-regulatory Cell +19

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene

Mir Reza Bekheirnia, Nasim Bekheirnia, Matthew N. Bainbridge et al. · Genetics in Medicine · 2016 · 96 citations · Full text

Developmental Anomaly, Urology, Mendelian Disorder +11

<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Laura Cif, Diane Demailly, Jean‐Pierre Lin et al. · Brain · 2020 · 94 citations · Full text