Trijnie Dijkhuizen

Germline hypermethylation of <i>MLH1</i> and <i>EPCAM</i> deletions are a frequent cause of Lynch syndrome

Renée C. Niessen, Robert M.W. Hofstra, Helga Westers et al. · Genes Chromosomes and Cancer · 2009 · 228 citations

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

M. Doornbos, Birgit Sikkema‐Raddatz, Claudia A.L. Ruijvenkamp et al. · European Journal of Medical Genetics · 2009 · 167 citations

Breakpoints 1, Psychopathology, Psychiatry +3

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

Damien L. Bruno, Britt‐Marie Anderlid, Anna Lindstrand et al. · Journal of Medical Genetics · 2010 · 164 citations

Diagnostic interpretation of array data using public databases and internet sources

Nicole de Leeuw, Trijnie Dijkhuizen, Jayne Y. Hehir‐Kwa et al. · Human Mutation · 2012 · 108 citations · Full text

Phenotypic Variation, Engineering, Symbolic Data Analysis +34

Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

Guy Froyen, Stefanie Belet, Francisco Martı́nez et al. · The American Journal of Human Genetics · 2012 · 87 citations · Full text

Genome Instability, Cell Division, Natural Sciences +10