Jayne Y. Hehir‐Kwa
Radboud University Nijmegen(NL)Utrecht University(NL)Máxima Medisch Centrum(NL)Princess Máxima Center(NL)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Cancer Genomics and Diagnostics, Congenital heart defects research, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Genome sequencing identifies major causes of severe intellectual disability(2014)1,130 cited
- → Refining analyses of copy number variation identifies specific genes associated with developmental delay(2014)744 cited
- → A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer(2015)377 cited
- → High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progression(2007)359 cited
- → The Genome of the Netherlands: design, and project goals(2013)282 cited
- → Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders(2016)196 cited