S E Boonen

Author PubWeight™ 4.27‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Hum Genet 2006 1.35
2 Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. J Med Genet 2008 1.10
3 Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. Hum Genet 2006 0.99
4 New and recurrent AAGAB mutations in punctate palmoplantar keratoderma. Br J Dermatol 2014 0.75