LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye DevelopmentYaoqin Gong, B Steinmann, M. L. Halfhide et al.|Cell|2001Cited by 2.2k
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric PhenotypesHeather C. Mefford, Anja De Coene, Andrew J. Sharp et al.|New England Journal of Medicine|2008Cited by 811
Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statementFrédéric Brioude, Eamonn R. Maher, Jennifer M. Kalish et al.|Nature Reviews Endocrinology|2018Cited by 596
Clinical and Molecular Phenotype of Aicardi-Goutières SyndromeGillian Rice, Rasieka Jayatunga, Teresa Patrick et al.|The American Journal of Human Genetics|2007Cited by 449
Mutations in the Pericentrin ( <i>PCNT</i> ) Gene Cause Primordial DwarfismAnita Rauch, André Reis, Christian T. Thiel et al.|Science|2008Cited by 397