List of works - Anna Sowinska-Seidler

A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2

scientific article published on 14 April 2020

Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis

scientific article published on 05 March 2020

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis

scientific article published in January 2016

Correction to: Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review

scientific article published on 12 November 2020

Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

scientific article published on 01 November 2018

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

scientific article

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

scientific article published on 08 January 2019

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia

scientific article published on 6 January 2016

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

scientific article published on 31 March 2016

Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia

scientific article published on 31 July 2019

Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review

scientific article published on 31 October 2020

Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.

scientific article published on 5 September 2014

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene

scientific article published on 23 October 2014

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

scientific article published in 2022

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses

scientific article published on 15 February 2014

Noncoding copy-number variations are associated with congenital limb malformation.

scientific article published on 12 October 2017

Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

scientific article published on 29 May 2018

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

scientific article published on 11 September 2019

Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation.

scientific article published on 24 June 2016

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects

scientific article published on 28 April 2022

Split-hand/foot malformation - molecular cause and implications in genetic counseling.

scientific article published on 27 October 2013

The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings

scientific article published on 23 October 2020

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

scientific article published on 6 February 2014

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene