Marjolijn C.J. Jongmans

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

Robbert D.A. Weren, Marjolijn J. L. Ligtenberg, C. Marleen Kets et al. · Nature Genetics · 2015 · 372 citations

Genome Instability, Medicine, Genetics +7

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 214 citations

Genetics, Genetic Epidemiology, Pathology +20

Germ-line and somatic DICER1 mutations in pineoblastoma

Leanne de Kock, Nelly Sabbaghian, Harriet Druker et al. · Acta Neuropathologica · 2014 · 182 citations · Full text

Biology, Somatic Variant, Somatic Cell Genetics +5

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon et al. · European Journal of Human Genetics · 2014 · 171 citations · Full text

Neurological Disorder, Clinical Neurology, Baraitser–winter Cerebrofrontofacial Syndrome +3