Joanna Walczak‐Sztulpa

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

Joanna Walczak‐Sztulpa, Jonathan Eggenschwiler, Daniel P. S. Osborn et al. · The American Journal of Human Genetics · 2010 · 204 citations · Full text

Developmental Anomaly, Cranioectodermal Dysplasia, Mendelian Disorder +11

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

Joanna Walczak‐Sztulpa, Renata Posmyk, Ewelina Bukowska‐Olech et al. · Orphanet Journal of Rare Diseases · 2020 · 20 citations · Full text

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

Ewelina Bukowska‐Olech, Anna Materna‐Kiryluk, Joanna Walczak‐Sztulpa et al. · Frontiers in Genetics · 2020 · 16 citations · Full text

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic <i>WDR35</i> mutations

Joanna Walczak‐Sztulpa, Anna Wawrocka, Agata Sobierajewicz et al. · American Journal of Medical Genetics Part A · 2017 · 15 citations

Genetics, Polish Family, Pathology +19

Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia

Anna Wawrocka, Joanna Walczak‐Sztulpa, Magdalena Socha et al. · American Journal of Medical Genetics Part A · 2021 · 12 citations