Johanna C. Herkert

Rapid Targeted Genomics in Critically Ill Newborns

Cleo C. van Diemen, Wilhelmina S. Kerstjens‐Frederikse, Klasien A. Bergman et al. · PEDIATRICS · 2017 · 148 citations · Full text

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

Patrick Deelen, Sipko van Dam, Johanna C. Herkert et al. · Nature Communications · 2019 · 147 citations · Full text

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano et al. · Genetics in Medicine · 2018 · 127 citations · Full text

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Saskia M. Maas, Adam Shaw, Hennie Bikker et al. · European Journal of Medical Genetics · 2015 · 119 citations · Full text

Tricho-rhino-phalangeal Syndrome, Genetics, Genetic Epidemiology +1

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

Maja Hempel, Kirsten Cremer, Charlotte W. Ockeloen et al. · The American Journal of Human Genetics · 2015 · 106 citations · Full text

Severe Speech Impairment, Genetic Disorder, Medicine +9