Ingrid Simonic

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker et al. · New England Journal of Medicine · 2008 · 811 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Paweł Stankiewicz, Partha Sen, Samarth Bhatt et al. · The American Journal of Human Genetics · 2009 · 536 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

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

Reconstruction of the mouse extrahepatic biliary tree using primary human extrahepatic cholangiocyte organoids

Fotios Sampaziotis, Alexander W. Justin, Olivia Tysoe et al. · Nature Medicine · 2017 · 294 citations · Full text

Medicine, Anatomy, Cell Biology +14