selected publications
-
Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.
European journal of human genetics : EJHG.
2014
Academic Article
GET IT
Times cited: 54 -
Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory.
Molecular cytogenetics.
2014
Academic Article
GET IT
Times cited: 42 -
Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory.
Molecular cytogenetics.
2012
Academic Article
GET IT
Times cited: 12 -
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
Nature genetics.
2010
Academic Article
GET IT
Times cited: 248