Marzena Wiśniewska

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

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

Bartłomiej Budny, Wei Chen, Heymut Omran et al. · Human Genetics · 2006 · 189 citations

Intellectual Impairment, Ciliary Dysfunction, Craniofacial Disorder +10

PEDIA: prioritization of exome data by image analysis

Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel et al. · Genetics in Medicine · 2019 · 86 citations · Full text

Increased<i>STAG2</i>dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

Raman Kumar, Mark Corbett, Bregje W.M. van Bon et al. · Human Molecular Genetics · 2015 · 32 citations · Full text

Developmental Biology, Mendelian Disorder, Psychiatry +15

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

Anna Woźniak, D Wolnik-Brzozowska, Marzena Wiśniewska et al. · BMC Pediatrics · 2010 · 29 citations · Full text