Hans Scheffer
Radboud University Nijmegen(NL)Radboud University Medical Center(NL)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetic Neurodegenerative Diseases, Neurogenetic and Muscular Disorders Research, Cystic Fibrosis Research Advances, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability(2012)1,570 cited
- → Guidelines for diagnostic next-generation sequencing(2015)513 cited
- → Erratum: Guidelines for diagnostic next-generation sequencing(2016)423 cited
- → Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder(2010)411 cited
- → Whole-genome sequencing in health care(2013)378 cited
- Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.(2013)
- → PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy(1995)339 cited