Eline A. Verberne

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Eline A. Verberne, Shuxiang Goh, Jade England et al. · Genetics in Medicine · 2020 · 35 citations · Full text

Neurodevelopmental Disorders, Down Syndrome, Rare Diseases +9

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

Alexander J.M. Dingemans, Kim M. G. Truijen, Jung‐Hyun Kim et al. · European Journal of Human Genetics · 2021 · 35 citations · Full text

Developmental Anomaly, Mendelian Disorder, Genetic Disorder +8

Expanding the phenotype of biallelic <scp><i>RNPC3</i></scp> variants associated with growth hormone deficiency

Eline A. Verberne, S. Glenn Faries, Marcel M. A. M. Mannens et al. · American Journal of Medical Genetics Part A · 2020 · 25 citations · Full text

<scp>4H</scp> leukodystrophy caused by a homozygous <i>POLR3B</i> mutation: Further delineation of the phenotype

Eline A. Verberne, Lotje Dalen Meurs, Nicole I. Wolf et al. · American Journal of Medical Genetics Part A · 2020 · 17 citations · Full text

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome

Eline A. Verberne, Liselot van der Laan, Sadegheh Haghshenas et al. · International Journal of Molecular Sciences · 2022 · 16 citations · Full text