Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver–McFarlane Syndromes
Wawrocka, Anna, Walczak-Sztulpa, Joanna, Kuszel, Lukasz, Niedziela-Schwartz, Zuzanna, Skorczyk-Werner, Anna, Bernardczyk-Meller, Jadwiga, Krawczynski, Maciej R
Published in International journal of molecular sciences (01.06.2024)
Published in International journal of molecular sciences (01.06.2024)
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Journal Article
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)
Skorczyk-Werner, Anna, Niedziela, Zuzanna, Stopa, Marcin, Krawczyński, Maciej Robert
Published in Orphanet journal of rare diseases (11.12.2020)
Published in Orphanet journal of rare diseases (11.12.2020)
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Journal Article
The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing
Skorczyk-Werner, Anna, Raczynska, Dorota, Wawrocka, Anna, Zholdybayeva, Dinara, Yakhiyayeva, Nurgul, Krawczynski, Maciej Robert
Published in Intractable & Rare Diseases Research (31.08.2021)
Published in Intractable & Rare Diseases Research (31.08.2021)
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Journal Article
DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients
Skorczyk-Werner, Anna, Tońska, Katarzyna, Maciejczuk, Aleksandra, Nowomiejska, Katarzyna, Korwin, Magdalena, Ołdak, Monika, Wawrocka, Anna, Krawczyński, Maciej R
Published in International journal of molecular sciences (15.12.2023)
Published in International journal of molecular sciences (15.12.2023)
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Journal Article
Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa
Wawrocka, Anna, Socha, Magdalena, Walczak-Sztulpa, Joanna, Koczyk, Grzegorz, Skorczyk-Werner, Anna, Krawczyński, Maciej R
Published in Diagnostics (Basel) (01.02.2023)
Published in Diagnostics (Basel) (01.02.2023)
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Polymorphism and chromosomal location of the MC4R (melanocortin-4 receptor) gene in the dog and red fox
Skorczyk, Anna, Stachowiak, Monika, Szczerbal, Izabela, Klukowska-Roetzler, Jolanta, Schelling, Claude, Dolf, Gaudenz, Switonski, Marek
Published in Gene (01.05.2007)
Published in Gene (01.05.2007)
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Journal Article
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)
Skorczyk-Werner, Anna, Pawłowski, Przemysław, Michalczuk, Marta, Warowicka, Alicja, Wawrocka, Anna, Wicher, Katarzyna, Bakunowicz-Łazarczyk, Alina, Krawczyński, Maciej R.
Published in Journal of applied genetics (01.08.2015)
Published in Journal of applied genetics (01.08.2015)
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Journal Article
Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development
Kolesinska, Zofia, Acierno Jr, James, Ahmed, S Faisal, Xu, Cheng, Kapczuk, Karina, Skorczyk-Werner, Anna, Mikos, Hanna, Rojek, Aleksandra, Massouras, Andreas, Krawczynski, Maciej R, Pitteloud, Nelly, Niedziela, Marek
Published in Endocrine Connections (01.12.2018)
Published in Endocrine Connections (01.12.2018)
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Journal Article
Co‐occurrence of Jalili syndrome and muscular overgrowth
Wawrocka, Anna, Walczak‐Sztulpa, Joanna, Badura‐Stronka, Magdalena, Owecki, Michal, Kopczynski, Przemysław, Mrukwa‐Kominek, Ewa, Skorczyk‐Werner, Anna, Gasperowicz, Piotr, Ploski, Rafal, Krawczynski, Maciej R.
Published in American journal of medical genetics. Part A (01.08.2017)
Published in American journal of medical genetics. Part A (01.08.2017)
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Journal Article
Achromatopsia mutations target sequential steps of ATF6 activation
Chiang, Wei-Chieh, Chan, Priscilla, Wissinger, Bernd, Vincent, Ajoy, Skorczyk-Werner, Anna, Krawczyński, Maciej R., Kaufman, Randal J., Tsang, Stephen H., Héon, Elise, Kohl, Susanne, Lin, Jonathan H.
Published in Proceedings of the National Academy of Sciences - PNAS (10.01.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (10.01.2017)
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Journal Article
Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS
Skorczyk-Werner, Anna, Sowińska-Seidler, Anna, Wawrocka, Anna, Walczak-Sztulpa, Joanna, Krawczyński, Maciej Robert
Published in Journal of applied genetics (01.02.2023)
Published in Journal of applied genetics (01.02.2023)
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Journal Article
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene
Skorczyk-Werner, Anna, Chiang, Wei-Chieh, Wawrocka, Anna, Wicher, Katarzyna, Jarmuż-Szymczak, Małgorzata, Kostrzewska-Poczekaj, Magdalena, Jamsheer, Aleksander, Płoski, Rafał, Rydzanicz, Małgorzata, Pojda-Wilczek, Dorota, Weisschuh, Nicole, Wissinger, Bernd, Kohl, Susanne, Lin, Jonathan H, Krawczyński, Maciej R
Published in European journal of human genetics : EJHG (01.11.2017)
Published in European journal of human genetics : EJHG (01.11.2017)
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Journal Article
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy
Wawrocka, Anna, Skorczyk-Werner, Anna, Wicher, Katarzyna, Niedziela, Zuzanna, Ploski, Rafal, Rydzanicz, Malgorzata, Sykulski, Maciej, Kociecki, Jaroslaw, Weisschuh, Nicole, Kohl, Susanne, Biskup, Saskia, Wissinger, Bernd, Krawczynski, Maciej R
Published in Molecular vision (26.04.2018)
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Published in Molecular vision (26.04.2018)
Journal Article
Five novel CNGB3 gene mutations in Polish patients with achromatopsia
Wawrocka, Anna, Kohl, Susanne, Baumann, Britta, Walczak-Sztulpa, Joanna, Wicher, Katarzyna, Skorczyk-Werner, Anna, Krawczynski, Maciej R
Published in Molecular vision (23.12.2014)
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Published in Molecular vision (23.12.2014)
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