Paweł Stankiewicz

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

James R. Lupski, Jeffrey G. Reid, Claudia Gonzaga‐Jauregui et al. · New England Journal of Medicine · 2010 · 761 citations · Full text

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia et al. · Nature Genetics · 2008 · 627 citations · Full text

Developmental Anomaly, Developmental Biology, Brain Development +7

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Marwan Shinawi, P. Liu, Sung Hae L. Kang et al. · Journal of Medical Genetics · 2009 · 593 citations

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