Joanna Wiszniewska

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 · 513 citations · Full text

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

Pengfei Liu, Ayelet Erez, Sandesh C. Sreenath Nagamani et al. · Cell · 2011 · 457 citations · Full text

Chromatin, Genome Instability, Genetics +4

Detection of clinically relevant exonic copy-number changes by array CGH

Philip M. Boone, Carlos A. Bacino, Chad A. Shaw et al. · Human Mutation · 2010 · 237 citations

Array Cgh, Genetics, Diagnosis +18

The genetic basis of DOORS syndrome: an exome-sequencing study

Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu et al. · The Lancet Neurology · 2013 · 227 citations · Full text

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

Przemysław Szafrański, Christian P. Schaaf, Richard Person et al. · Human Mutation · 2010 · 141 citations