Egbert Bakker
Leiden University(NL)Medisch Centrum Alkmaar(NL)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Genetic Neurodegenerative Diseases, Genomic variations and chromosomal abnormalities, Neurogenetic and Muscular Disorders Research, Cardiomyopathy and Myosin Studies
Most-Cited Works
- → Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2(2012)647 cited
- → Guidelines for diagnostic next-generation sequencing(2015)513 cited
- Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.(1989)
- → EAA/EMQN best practice guidelines for molecular diagnosis of y‐chromosomal microdeletions. State of the art 2004(2004)484 cited
- → Amyloid β Protein Precursor Gene and Hereditary Cerebral Hemorrhage with Amyloidosis (Dutch)(1990)476 cited
- → Genome-wide association study identifies three loci associated with melanoma risk(2009)459 cited
- → BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients