Marta Smyk

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

Lisenka E.L.M. Vissers, Samarth Bhatt, Irene M. Janssen et al. · Human Molecular Genetics · 2009 · 193 citations · Full text

Dna Breakage, Genetics, Tandem Duplications +22

Two novel translocation breakpoints upstream of <i>SOX9</i> define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

M. Leipoldt, Martin Erdel, G. A. Bien-Willner et al. · Clinical Genetics · 2006 · 100 citations · Full text

Different‐sized duplications of Xq28, including <i>MECP2</i>, in three males with mental retardation, absent or delayed speech, and recurrent infections

Marta Smyk, Ewa Obersztyn, Beata Nowakowska et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2007 · 60 citations

Male-to-female sex reversal associated with an ∼250 kb deletion upstream of NR0B1 (DAX1)

Marta Smyk, Jonathan S. Berg, Amber N. Pursley et al. · Human Genetics · 2007 · 60 citations

Biology, Genetics, Genomic Mechanism +6

A novel <i>IGF2/H19</i> domain triplication in the 11p15.5 imprinting region causing either Beckwith–Wiedemann or Silver–Russell syndrome in a single family

Dorota Jurkiewicz, Monika Kugaudo, Agata Skórka et al. · American Journal of Medical Genetics Part A · 2016 · 47 citations