Paweł Stankiewicz

SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia

J. Lupski, T. Gambin, R. Zemet, 2023, Research square.

The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP.

P. Stankiewicz, J. Lupski, K. Inoue, 2001, Genome research.

Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome

P. Stankiewicz, J. Lupski, S. Cheung, 2004, Clinical genetics.

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

R. Pfundt, B. D. de Vries, P. Stankiewicz, 2007, Human Genetics.