Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicineDimitri J. Stavropoulos, Cheryl Shuman, Daniele Merico et al.|npj Genomic Medicine|2016Cited by 377
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologiesDerek H.K. Lim, Eamonn R. Maher, Tim Cole et al.|Human Reproduction|2008Cited by 274
MKS1 regulates ciliary INPP5E levels in Joubert syndromeGisela G. Slaats, Dan Doherty, Christine R. Isabella et al.|Journal of Medical Genetics|2015Cited by 52
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delaysMythily Ganapathi, Elizabeth Bhoj, Leticia S. Matsuoka et al.|European Journal of Human Genetics|2023Cited by 25