Anna Wawrocka

Rokietnicka 8 Street
Poznan, WP 60608, Poland

Last Updated: 09/26/2026

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Found 30 publications

Genetic and Clinical Heterogeneity of Polish Patients with Congenital Stationary Night Blindness (CSNB).

Genetic and Clinical Heterogeneity of Polish Patients with Congenital Stationary Night Blindness (CSNB).

Journal: International journal of molecular sciences

Published: April 17, 2026

Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes.

Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes.

Journal: International journal of molecular sciences

Published: April 09, 2024

DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.

DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.

Journal: International journal of molecular sciences

Published: November 17, 2023

Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants.

Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants.

Journal: Frontiers in molecular biosciences

Published: August 30, 2023

Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa.

Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa.

Journal: Diagnostics (Basel, Switzerland)

Published: January 16, 2023

Novel variants in the PAX6 gene related to isolated aniridia.

Novel variants in the PAX6 gene related to isolated aniridia.

Journal: Congenital anomalies

Published: October 05, 2022

Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.

Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.

Journal: Journal of applied genetics

Published: August 01, 2022

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

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

Journal: Frontiers in genetics

Published: April 29, 2022

WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.

WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.

Journal: American journal of medical genetics. Part A

Published: February 16, 2022

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

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

Journal: American journal of medical genetics. Part A

Published: June 22, 2021

The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing.

The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing.

Journal: Intractable & rare diseases research

Published: February 25, 2021

Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.

Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.

Journal: American journal of medical genetics. Part A

Published: September 23, 2020

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Last Updated: 09/26/2026