R. Tanner Hagelstrom

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

Ian D. Krantz, Līvija Medne, Jamila Weatherly et al. · JAMA Pediatrics · 2021 · 173 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Kristina Ibáñez, James M. Polke, R. Tanner Hagelstrom et al. · UCL Discovery (University College London) · 2022 · 140 citations

Life Sciences, Genetics, Molecular Genetics +17

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

Andrew M. Gross, Subramanian S. Ajay, Vani Rajan et al. · Genetics in Medicine · 2018 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

Alicia Scocchia, Kristen Wigby, Diane Masser‐Frye et al. · npj Genomic Medicine · 2019 · 91 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi et al. · The American Journal of Human Genetics · 2021 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17