Helen Stewart
Rambam Health Care Campus(IL)Oxford University Hospitals NHS Trust(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, RNA modifications and cancer, Congenital heart defects research
Most-Cited Works
- → Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti(2000)736 cited
- → Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome(2006)664 cited
- → Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome(2009)370 cited
- → Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant(2008)346 cited
- → Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss(2011)307 cited
- → Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus(2012)287 cited