Anna Wawrocka

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 10

Top Topics

Autism Spectrum Disorder

High Throughput Sequencing

Duchenne Muscular Dystrophy

Top Venues

American journal of medical genetics. Part A

International journal of molecular sciences

Birth defects research

Journal of applied genetics

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

Publications

Anna Wawrocka, Joanna Walczak-Sztulpa, Łukasz Kuszel, Zuzanna Niedziela-Schwartz, Anna Skorczyk-Werner, Jadwiga Bernardczyk-Meller, Maciej R Krawczynski
Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes. International journal of molecular sciences 25 (11) (2024)
Anna Wawrocka, Joanna Walczak-Sztulpa, Łukasz Kuszel, Zuzanna Niedziela-Schwartz, Anna Skorczyk-Werner, Jadwiga Bernardczyk-Meller, Maciej R Krawczynski
Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes. International journal of molecular sciences 25 (11) (2024)
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)
Anna Wawrocka, Joanna Walczak-Sztulpa, Magdalena Socha, Lukasz Kuszel, Anna Sowinska-Seidler, Bartlomiej Budny, Ewelina Bukowska-Olech, Magdalena Pilas-Pomykalska, Aleksander Jamsheer, Maciej R Krawczynski
Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia. American journal of medical genetics. Part A (2021)
Anna Wawrocka, Joanna Walczak-Sztulpa, Marta Pawlak, Anna Gotz-Wieckowska, Maciej R Krawczynski
Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner. American journal of medical genetics. Part A 185 (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)
Anna Wawrocka, Maciej R Krawczynski
The genetics of aniridia - simple things become complicated. Journal of applied genetics 59 (2) (2018)
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)