Juliet E. Hampstead

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

Caroline F. Wright, Patrick Campbell, Ruth Y. Eberhardt et al. · New England Journal of Medicine · 2023 · 203 citations · Full text

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen et al. · Genetics in Medicine · 2022 · 28 citations · Full text

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

Wouter Steyaert, Lonneke Haer‐Wigman, Rolph Pfundt et al. · Nature Communications · 2023 · 27 citations · Full text

Genetics, Gynecology, Pathology +21

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldız, Erdi Küçük, Juliet E. Hampstead et al. · Human Genomics · 2023 · 26 citations · Full text

Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders

Brechtje Hoegen, Juliet E. Hampstead, Udo F. H. Engelke et al. · Journal of Inherited Metabolic Disease · 2022 · 18 citations · Full text