Associated Papers
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
A comprehensive analysis of germline predisposition to early-onset ovarian cancer.
Horackova K et al.
Scientific Reports, 2024
Myelodysplastic Syndrome: Clinical Characteristics and Significance of Preclinically Detecting Biallelic Mutations in the TET2 Gene.
Danishevich A et al.
Life (basel, Switzerland), 2024
Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants.
Walczak-Sztulpa J et al.
Frontiers in Molecular Biosciences, 2023
WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.
Walczak-Sztulpa J et al.
American Journal of Medical Genetics. Part A, 2022
Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings.
Brndiarova M et al.
Molecular Syndromology, 2021
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Walczak-Sztulpa J et al.
American Journal of Medical Genetics. Part A, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease.
Deshwar AR et al.
American Journal of Medical Genetics. Part A, 2019
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
Walczak-Sztulpa J et al.
American Journal of Medical Genetics. Part A, 2017
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.
Smith C et al.
American Journal of Medical Genetics. Part A, 2016
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
Caparrós-Martín JA et al.
Human Molecular Genetics, 2015
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).
Hoffer JL et al.
Clinical Genetics, 2013
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
Thompson ER et al.
Plos Genetics, 2012