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Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812 (2019).
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet 97, 199-215 (2015).
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. Eur J Hum Genet 22, 1145-8 (2014).
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A 158A, 1523-5 (2012).