Jenny Thies

Targeted long-read sequencing identifies missing disease-causing variation

Danny E. Miller, Arvis Sulovari, Tianyun Wang et al. · The American Journal of Human Genetics · 2021 · 239 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 201 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix et al. · Genetics in Medicine · 2018 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children

Amanda S. Freed, Sarah V. Clowes Candadai, Megan Sikes et al. · The Journal of Pediatrics · 2020 · 60 citations · Full text

Medicine, Molecular Genetics, Pediatrics +16

Expanding clinical phenotype in <i>CACNA1C</i> related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy

Xiuhua Bozarth, Jennifer N. Dines, Qian Cong et al. · American Journal of Medical Genetics Part A · 2018 · 50 citations

Medicine, Genetics, Molecular Genetics +17