Jennifer Kussmann
Children's Mercy Hospital(US)Mercy Hospital(US)University of Missouri–Kansas City(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Congenital heart defects research, RNA modifications and cancer, RNA Research and Splicing
Most-Cited Works
- → A copy number variation morbidity map of developmental delay(2011)1,390 cited
- → A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay(2010)671 cited
- → Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins(2016)168 cited
- → Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome(2009)123 cited
- → Further clinical and molecular delineation of the 15q24 microdeletion syndrome(2011)92 cited
- → Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes(2022)91 cited
- → Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats