Joanna Walczak-Sztulpa

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 12

Top Topics

Duchenne Muscular Dystrophy

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

Diagnostics (Basel, Switzerland)

Birth defects research

Orphanet journal of rare diseases

This page only lists publications with an associated author ORCID identifier.

Publications

Anna Wawrocka, Magdalena Socha, Joanna Walczak-Sztulpa, Grzegorz Koczyk, Anna Skorczyk-Werner, Maciej R Krawczynski
Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa. Diagnostics (Basel, Switzerland) 13 (4) (2023)
Anna Wawrocka, Magdalena Socha, Joanna Walczak-Sztulpa, Grzegorz Koczyk, Anna Skorczyk-Werner, Maciej R Krawczynski
Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa. Diagnostics (Basel, Switzerland) 13 (4) (2023)
Anna Wawrocka, Magdalena Socha, Joanna Walczak-Sztulpa, Grzegorz Koczyk, Anna Skorczyk-Werner, Maciej R Krawczynski
Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa. Diagnostics (Basel, Switzerland) 13 (4) (2023)
Joanna Walczak-Sztulpa, Anna Wawrocka, Weronika Sikora, Marta Pawlak, Ewelina M Olech, Bartłomiej Kopaczewski, Agnieszka Urzykowska, Heleen H Arts, Anna Gotz-Więckowska, Ryszard Grenda, Anna Latos-Bieleńska, Renata Glazar
WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy. American journal of medical genetics. Part A 188 (10) (2022)
Joanna Walczak-Sztulpa, Anna Wawrocka, Małgorzata Stańczyk, Karolina Pesz, Lech Dudarewicz, Sławomir Chrul, Ewelina Bukowska-Olech, Nina Wieczorek-Cichecka, Heleen H Arts, Machteld M Oud, Robert Śmigiel, Ryszard Grenda, Ewa Obersztyn, Krystyna H Chrzanowska, Anna Latos-Bieleńska
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35. American journal of medical genetics. Part A 185 (4) (2021)
Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M Oud, Miriam Schmidts, Heleen H Arts, Anna Latos-Bielenska, Anna Wasilewska
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease. Orphanet journal of rare diseases 15 (1) (2020)
Joanna Walczak-Sztulpa, Anna Wawrocka, Beata Leszczynska, Boyana Mikulska, Heleen H Arts, Ewelina Bukowska-Olech, Maria Daniel, Maciej R Krawczynski, Anna Latos-Bielenska, Ewa Obersztyn
Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35. American journal of medical genetics. Part A 182 (10) (2020)
Ewelina M Olech, Anna Sowinska-Seidler, Filip Łojek, Delfina Popiel, Joanna Walczak-Sztulpa, Aleksander Jamsheer
Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review. Journal of applied genetics 62 (1) (2020)
Ewelina M Olech, Monika Dmitrzak-Węglarz, Dawid Larysz, Bartosz Wojciechowicz, Dorota Simon, Joanna Walczak-Sztulpa, Aleksander Jamsheer
Compound craniosynostosis, intellectual disability, and Noonan-like facial dysmorphism associated with 7q32.3-q35 deletion. Birth defects research 112 (10) (2020)
Anna Wawrocka, Joanna Walczak-Sztulpa, Magdalena Badura-Stronka, Michal Owecki, Przemysław Kopczynski, Ewa Mrukwa-Kominek, Anna Skorczyk-Werner, Piotr Gasperowicz, Ploski Rafal, Maciej R Krawczynski
Co-occurrence of Jalili syndrome and muscular overgrowth. American journal of medical genetics. Part A 173 (8) (2017)
Joanna Walczak-Sztulpa, Anna Wawrocka, Anna Swiader-Lesniak, Magdalena Socha, Aleksander Jamsheer, Dorota Drozdz, Anna Latos-Bielenska, Katarzyna Zachwieja
Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations. Birth defects research 110 (4) (2017)
Joanna Walczak-Sztulpa, Anna Wawrocka, Agata Sobierajewicz, Lukasz Kuszel, Jan Zawadzki, Ryszard Grenda, Anna Swiader-Lesniak, Beata Kocyla-Karczmarewicz, Anna Wnuk, Anna Latos-Bielenska, Krystyna H Chrzanowska
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. American journal of medical genetics. Part A 173 (5) (2017)