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Anna Wawrocka · SciRah

Researcher profile · Semantic Scholar

Anna Wawrocka

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Anna Wawrocka — researcher profile on SciRah

h-index: 12
Works: 38
Citations: 376

Most-cited papers

The genetics of aniridia — simple things become complicated
Anna Wawrocka, M. Krawczyński
2018Journal of Applied Genetics47 citations Open access
Semantic Scholar
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)
Anna Skorczyk-Werner, P. Pawłowski, Marta Michalczuk, A. Warowicka +4 more
2015Journal of Applied Genetics35 citations Open access
Semantic Scholar
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene
Anna Skorczyk-Werner, W. Chiang, Anna Wawrocka, Katarzyna Wicher +11 more
2017European Journal of Human Genetics34 citations Open access
Semantic Scholar
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy
Anna Wawrocka, Anna Skorczyk-Werner, Katarzyna Wicher, Zuzanna Niedziela +9 more
2018Molecular Vision23 citations
Semantic Scholar
PAX6 3′ deletion in a family with aniridia
Anna Wawrocka, B. Budny, S. Dębicki, A. Jamsheer +2 more
2012Ophthalmic Genetics21 citations
Semantic Scholar
11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia
Anna Wawrocka, A. Sikora, Lukasz Kuszel, M. Krawczyński
2013Journal of Applied Genetics19 citations Open access
Semantic Scholar
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
Joanna Walczak-Sztulpa, R. Posmyk, Ewelina Bukowska-Olech, Anna Wawrocka +6 more
2020Orphanet Journal of Rare Diseases16 citations Open access
Semantic Scholar
Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome.
M. Badura-Stronka, Anna Wawrocka, Krzysztof Zawieja, Sylwia Silska +1 more
2013Mitochondrion (Amsterdam. Print)15 citations Open access
Semantic Scholar
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations
Joanna Walczak-Sztulpa, Anna Wawrocka, Agata Sobierajewicz, Lukasz Kuszel +7 more
2017American Journal of Medical Genetics. Part A14 citations
Semantic Scholar
Granular Corneal Dystrophy in 830-nm Spectral Optical Coherence Tomography
B. Kałużny, A. Szkulmowska, M. Szkulmowski, T. Bajraszewski +4 more
2008Cornea14 citations
Semantic Scholar
A novelGJA1 missense mutation in a Polish child with oculodentodigital dysplasia
A. Jamsheer, Marzena Wiśniewska, A. Szpak, G. Bugaj +4 more
2010Journal of Applied Genetics13 citations
Semantic Scholar
Non‐syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X‐linked recessive manner
Anna Wawrocka, Joanna Walczak-Sztulpa, M. Pawlak, A. Gotz-Więckowska +1 more
2020American Journal of Medical Genetics. Part A12 citations
Semantic Scholar
Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35
Joanna Walczak-Sztulpa, Anna Wawrocka, B. Leszczyńska, B. Mikulska +6 more
2020American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
Co‐occurrence of Jalili syndrome and muscular overgrowth
Anna Wawrocka, Joanna Walczak-Sztulpa, M. Badura-Stronka, M. Owecki +6 more
2017American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation.
Anna Skorczyk-Werner, J. Kocięcki, Anna Wawrocka, Katarzyna Wicher +1 more
2015Klinika oczna10 citations
Semantic Scholar
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis
Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, R. van Beek +10 more
2022Frontiers in Genetics9 citations Open access
Semantic Scholar
Five novel CNGB3 gene mutations in Polish patients with achromatopsia
Anna Wawrocka, S. Kohl, Britta Baumann, Joanna Walczak-Sztulpa +3 more
2014Molecular Vision9 citations
Semantic Scholar
Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS
Anna Skorczyk-Werner, Anna Sowińska-Seidler, Anna Wawrocka, Joanna Walczak-Sztulpa +1 more
2022Journal of Applied Genetics8 citations Open access
Semantic Scholar
Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations
Joanna Walczak-Sztulpa, Anna Wawrocka, Anna Świąder-Leśniak, Magdalena Socha +4 more
2018Birth Defects Research8 citations Open access
Semantic Scholar
DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients
Anna Skorczyk-Werner, K. Tońska, Aleksandra Maciejczuk, K. Nowomiejska +4 more
2023International Journal of Molecular Sciences7 citations Open access
Semantic Scholar
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35
Joanna Walczak-Sztulpa, Anna Wawrocka, Małgorzata Stańczyk, K. Pesz +11 more
2021American Journal of Medical Genetics. Part A7 citations
Semantic Scholar
Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa
Anna Wawrocka, Magdalena Socha, Joanna Walczak-Sztulpa, G. Koczyk +2 more
2023Diagnostics6 citations Open access
Semantic Scholar
Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver–McFarlane Syndromes
Anna Wawrocka, Joanna Walczak-Sztulpa, Lukasz Kuszel, Zuzanna Niedziela-Schwartz +3 more
2024International Journal of Molecular Sciences5 citations Open access
Semantic Scholar
Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment
Anna Skorczyk-Werner, Anna Wawrocka, Natalia Kochalska, M. Krawczyński
2018Orphanet Journal of Rare Diseases4 citations Open access
Semantic Scholar
Alström syndrome: A case report of the Polish family and a brief review of the differential diagnosis
Katarzyna Wicher, T. Bajon, Anna Wawrocka, Anna Skorczyk-Werner +2 more
20174 citations Open access
Semantic Scholar
WDR35 variants in a cranioectodermal dysplasia patient with early onset end‐stage renal disease and retinal dystrophy
Joanna Walczak-Sztulpa, Anna Wawrocka, Weronika Sikora, M. Pawlak +8 more
2022American Journal of Medical Genetics. Part A3 citations
Semantic Scholar
The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing.
Anna Skorczyk-Werner, D. Raczyńska, Anna Wawrocka, Dinara Zholdybayeva +2 more
2021Intractable & Rare Diseases Research3 citations Open access
Semantic Scholar
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, Lukasz Kuszel +6 more
2021American Journal of Medical Genetics. Part A2 citations
Semantic Scholar
LABORATORY INVESTIGATION : Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents : a case of gonadal mosaicism?
Anna Wawrocka, Joanna Walczak-Sztulpa, Ewelina Bukowska-Olech, A. Jamsheer +3 more
20202 citations
Semantic Scholar
Next-generation sequencing reveals three novel variants in Polish patients with Usher syndrome
Anna Wawrocka, Joanna Walczak-Sztulpa, Anna Skorczyk-Werner, Łukasz Kuszel +3 more
20182 citations Open access
Semantic Scholar
Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants
Joanna Walczak-Sztulpa, Anna Wawrocka, Łukasz Kuszel, Paulina Pietras +9 more
2023Frontiers in Molecular Biosciences1 citations Open access
Semantic Scholar
Novel variants in the PAX6 gene related to isolated aniridia
Katarzyna Kuchalska, Anna Wawrocka, M. Krawczyński
2023Congenital Anomalies1 citations
Semantic Scholar
Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?
Anna Wawrocka, Joanna Walczak-Sztulpa, Ewelina Bukowska-Olech, A. Jamsheer +3 more
2020Japanese Journal of Ophthalmology1 citations
Semantic Scholar
GENETIC BASIS OF VON RECKLINGHAUSEN DISEASE
Anna Wawrocka, Maciej R. Krawczy, Ski
20131 citations
Semantic Scholar
Genetic and Clinical Heterogeneity of Polish Patients with Congenital Stationary Night Blindness (CSNB)
Lukasz Kuszel, Anna Wawrocka, Joanna Walczak-Sztulpa, Anna Skorczyk-Werner +1 more
2026International Journal of Molecular Sciences0 citations Open access
Semantic Scholar
Differential diagnosis of Norrie disease and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation.
Anna Wawrocka, Zuzanna Niedziela, Anna Skorczyk-Werner, M. Krawczyński
2017Klinika oczna0 citations
Semantic Scholar
11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia
Anna Wawrocka, A. Sikora, Lukasz Kuszel, M. Krawczyński
2013Journal of Applied Genetics0 citations Open access
Semantic Scholar
[Genetic basis of hereditary optic atrophies].
Anna Wawrocka, M. Krawczyński
2007Klinika oczna0 citations
Semantic Scholar

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M. Krawczyński×29
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M. Krawczyński — researcher profile on SciRah
Joanna Walczak-Sztulpa×19
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Joanna Walczak-Sztulpa — researcher profile on SciRah
Anna Skorczyk-Werner×16
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Anna Skorczyk-Werner — researcher profile on SciRah
A. Jamsheer×10
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A. Jamsheer — researcher profile on SciRah

A. Latos-Bieleńska×9

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A. Latos-Bieleńska — researcher profile on SciRah

Ewelina Bukowska-Olech×8

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Ewelina Bukowska-Olech — researcher profile on SciRah

Katarzyna Wicher×6

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Katarzyna Wicher — researcher profile on SciRah

Lukasz Kuszel×6

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M. Oud — researcher profile on SciRah

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Magdalena Socha×4

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Magdalena Socha — researcher profile on SciRah