Marjolijn C.J. Jongmans
Utrecht University(NL)Genmab (United States)(US)University Medical Center Utrecht(NL)Genmab (Netherlands)(NL)Princess Máxima Center(NL)Wilhelmina Children's Hospital(NL)
Publications by Year
Research Areas
Genetic factors in colorectal cancer, Genomics and Rare Diseases, Renal and related cancers, Neuroblastoma Research and Treatments, Childhood Cancer Survivors' Quality of Life
Most-Cited Works
- → A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer(2015)377 cited
- → The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies(2016)350 cited
- → CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype(2011)313 cited
- → Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients(2013)218 cited
- → Health risks for ataxia‐telangiectasia mutated heterozygotes: a systematic review, meta‐analysis and evidence‐based guideline(2015)190 cited
- → The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant(2015)185 cited