Helen Stewart

Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti

Asma Smahi, Nina S. Heiss, Petra Kioschis et al. · Nature · 2000 · 743 citations

Life Sciences, Genetics, Molecular Biology +11

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Andrew J. Sharp, S.K. Hansen, Rebecca R. Selzer et al. · Nature Genetics · 2006 · 664 citations

Life Sciences, Genetics, Molecular Genetics +16

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Bregje W.M. van Bon, Heather C. Mefford, Björn Menten et al. · Journal of Medical Genetics · 2009 · 370 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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

Femke Hannes, Andrew J. Sharp, Heather C. Mefford et al. · Journal of Medical Genetics · 2008 · 346 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17