Stella A. de Man

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

L. Vissers, B. D. de Vries, E. Eichler, 2022, Translational Psychiatry.

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

Mahshid S. Azamian, J. Rosenfeld, S. Lalani, 2020, American journal of human genetics.

A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques.

R. Hochstenbach, A. de Klein, B. Eussen, 2007, European journal of medical genetics.

Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency.

R. Pfundt, S. Philipsen, D. E. Bauer, 2021, Blood advances.

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

N. Drouot, P. Striano, F. Zara, 2022, Human mutation.

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

R. Hennekam, A. Latos-Bieleńska, A. Shaw, 2015, European journal of medical genetics.

DLG4-related synaptopathy: a new rare brain disorder

L. Feuk, B. V. van Bon, R. Pfundt, 2021, Genetics in Medicine.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

M. Lyons, C. Depienne, R. Person, 2021, Human genetics.