Carlo M. Marcelis

Cytoplasmic localization of PML particles in laminopathies

W. D. De Vos, J. Broers, C. Marcelis, 2012, Histochemistry and Cell Biology.

De novo WNT5A‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

H. Kayserili, H. Venselaar, H. Yntema, 2015, Clinical genetics.

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.

Nurit Assia Batzir, J. Schuurs-Hoeijmakers, R. Pfundt, 2024, American journal of human genetics.

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis

R Pfundt, R. Pfundt, N. de Leeuw, 2008, Journal of Medical Genetics.

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

R. Hennekam, H. Tonoki, R. Hennekam, 2010, Journal of Medical Genetics.

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications

B. V. van Bon, E. Bongers, D. Newbury, 2011, Molecular Syndromology.

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

J. Schuurs-Hoeijmakers, A. Hoischen, A. Reymond, 2013, Clinical genetics.

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

R. Pfundt, B. D. de Vries, P. Stankiewicz, 2007, Human Genetics.