Julia Wynn
Columbia University Irving Medical Center(US)Institut für Bauwerkserhaltung und Sanierung (Germany)(DE)
Publications by Year
Research Areas
BRCA gene mutations in cancer, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Congenital Diaphragmatic Hernia Studies, Ethics in Clinical Research
Most-Cited Works
- → The usefulness of whole-exome sequencing in routine clinical practice(2014)239 cited
- → Outcomes of Congenital Diaphragmatic Hernia in the Modern Era of Management(2013)223 cited
- → Congenital diaphragmatic hernias: from genes to mechanisms to therapies(2017)190 cited
- → Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine(2016)163 cited
- → Mortality in achondroplasia study: A 42‐year follow‐up(2007)159 cited
- → Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen(2012)137 cited
- → De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders