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Publications by Stefan H. Lelieveld

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

American Journal of Human Genetics
Genetics
2018English

Truncating De Novo Mutations in the Krüppel-Type Zinc-Finger Gene ZNF148 in Patients With Corpus Callosum Defects, Developmental Delay, Short Stature, and Dysmorphisms

Genome Medicine
Molecular MedicineGeneticsMolecular Biology
2016English

Integrating Healthcare and Research Genetic Data Empowers the Discovery of 49 Novel Developmental Disorders

2019English

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