Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss

by Monika Ołdak, Urszula Lechowicz, Agnieszka Pollak, Dominika Oziębło, Henryk Skarżyński
Published 2019-08-01

Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with <i>TMEM67</i> Mutations

by Agnieszka Stembalska, Małgorzata Rydzanicz, Agnieszka Pollak, Grazyna Kostrzewa, Piotr Stawinski, Mateusz Biela, Rafal Ploski, Robert Smigiel
Published 2021-07-01

Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome

by Malgorzata Ponikowska, Agnieszka Pollak, Ewa Kotwica-Strzalek, Dorota Brodowska-Kania, Magdalena Mosakowska, Rafal Ploski, Stanislaw Niemczyk
Published 2020-10-01

Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene

by Ryszard Slezak, Robert Smigiel, Malgorzata Rydzanicz, Agnieszka Pollak, Joanna Kosinska, Piotr Stawinski, Maria Malgorzata Sasiadek, Rafal Ploski
Published 2020-10-01

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss

by Agnieszka Pollak, Urszula Lechowicz, Victor Abel Murcia Pieńkowski, Piotr Stawiński, Joanna Kosińska, Henryk Skarżyński, Monika Ołdak, Rafał Płoski
Published 2017-12-01

Pathology of mitochondria in MELAS syndrome: an ultrastructural study

by Paulina Felczak, Eliza Lewandowska, Iwona Stępniak, Monika Ołdak, Agnieszka Pollak, Urszula Lechowicz, Elżbieta Pasennik, Tomasz Stępień, Teresa Wierzba-Bobrowicz
Published 2017-09-01

The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the <i>UBE2A</i> and <i>CXorf56</i> Genes

by Ewelina Wolańska, Agnieszka Pollak, Małgorzata Rydzanicz, Karolina Pesz, Magdalena Kłaniewska, Anna Rozensztrauch, Paweł Skiba, Piotr Stawiński, Rafał Płoski, Robert Śmigiel
Published 2021-02-01

Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype.

by Katarzyna Iwanicka-Pronicka, Agnieszka Pollak, Agata Skórka, Urszula Lechowicz, Magdalena Pajdowska, Mariusz Furmanek, Maciej Rzeski, Lech Korniszewski, Henryk Skarżyński, Rafał Płoski
Published 2012-01-01

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the <i>WDR62</i> Gene

by Ryszard Slezak, Robert Smigiel, Ewa Obersztyn, Agnieszka Pollak, Mateusz Dawidziuk, Wojciech Wiszniewski, Monika Bekiesinska-Figatowska, Malgorzata Rydzanicz, Rafal Ploski, Pawel Gawlinski
Published 2021-04-01

Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome

by Magdalena Machnikowska-Sokołowska, Jacek Pilch, Justyna Paprocka, Małgorzata Rydzanicz, Agnieszka Pollak, Joanna Kosińska, Piotr Gasperowicz, Katarzyna Gruszczyńska, Ewa Emich-Widera, Rafał Płoski
Published 2020-11-01

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy

by Grażyna T. Truszkowska, Zofia T. Bilińska, Angelika Muchowicz, Agnieszka Pollak, Anna Biernacka, Katarzyna Kozar-Kamińska, Piotr Stawiński, Piotr Gasperowicz, Joanna Kosińska, Tomasz Zieliński, Rafał Płoski
Published 2017-06-01

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

by Urszula Lechowicz, Tomasz Gambin, Agnieszka Pollak, Anna Podgorska, Piotr Stawinski, Andre Franke, Britt-Sabina Petersen, Malgorzata Firczuk, Monika Oldak, Henryk Skarzynski, Rafal Ploski
Published 2017-05-01

Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene

by Magdalena Klaniewska, Maria Jedrzejowska, Malgorzata Rydzanicz, Justyna Paprocka, Mateusz Biela, Ewelina Wolanska, Agnieszka Pollak, Emilia Debek, Maria Sasiadek, Rafal Ploski, Monika Gos, Robert Smigiel
Published 2021-04-01

Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders—Single-Center Experience

by Patryk Lipiński, Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, Agnieszka Pollak, Maria Wypchło, Maria Wypchło, Rafał Płoski, Joanna Cielecka-Kuszyk, Piotr Socha, Joanna Pawłowska, Irena Jankowska
Published 2020-07-01

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.

by Agnieszka Pollak, Urszula Lechowicz, Anna Kędra, Piotr Stawiński, Małgorzata Rydzanicz, Mariusz Furmanek, Małgorzata Brzozowska, Maciej Mrówka, Henryk Skarżyński, Piotr H Skarżyński, Monika Ołdak, Rafał Płoski
Published 2016-01-01

Human Pegivirus in Patients with Encephalitis of Unclear Etiology, Poland

by Iwona Bukowska-Ośko, Karol Perlejewski, Agnieszka Pawełczyk, Małgorzata Rydzanicz, Agnieszka Pollak, Marta Popiel, Kamila Caraballo Cortés, Marcin Paciorek, Andrzej Horban, Tomasz Dzieciątkowski, Marek Radkowski, Tomasz Laskus
Published 2018-10-01

Breakpoint Mapping of Symptomatic Balanced Translocations Links the <i>EPHA6</i>, <i>KLF13</i> and <i>UBR3</i> Genes to Novel Disease Phenotype

by Victor Murcia Pienkowski, Marzena Kucharczyk, Małgorzata Rydzanicz, Barbara Poszewiecka, Katarzyna Pachota, Marlena Młynek, Piotr Stawiński, Agnieszka Pollak, Joanna Kosińska, Katarzyna Wojciechowska, Monika Lejman, Agata Cieślikowska, Dorota Wicher, Agnieszka Stembalska, Karolina Matuszewska, Anna Materna-Kiryluk, Anna Gambin, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Rafał Płoski
Published 2020-04-01

Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.

by Maria Franaszczyk, Przemyslaw Chmielewski, Grazyna Truszkowska, Piotr Stawinski, Ewa Michalak, Malgorzata Rydzanicz, Malgorzata Sobieszczanska-Malek, Agnieszka Pollak, Justyna Szczygieł, Joanna Kosinska, Adam Parulski, Tomasz Stoklosa, Agnieszka Tarnowska, Marcin M Machnicki, Bogna Foss-Nieradko, Malgorzata Szperl, Agnieszka Sioma, Mariusz Kusmierczyk, Jacek Grzybowski, Tomasz Zielinski, Rafal Ploski, Zofia T Bilinska
Published 2017-01-01