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

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Celiac Disease in Conjunction with Hereditary Fructose Intolerance as a Rare Cause of Liver Steatosis with Mild Hypertransaminasemia—A Case Report by Anna Bobrus-Chociej, Agnieszka Pollak, Natalia Kopiczko, Marta Flisiak-Jackiewicz, Rafał Płoski, Dariusz M. Lebensztejn

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A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum by Justyna Frasuńska, Agnieszka Pollak, Paweł Turczyn, Anna Kutkowska-Kaźmierczak, Jakub Pepłowski, Rafał Płoski, Beata Tarnacka

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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

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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

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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

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Patients with Infections of The Central Nervous System Have Lowered Gut Microbiota Alpha Diversity by Marta Grochowska, Tomasz Laskus, Marcin Paciorek, Agnieszka Pollak, Urszula Lechowicz, Michał Makowiecki, Andrzej Horban, Marek Radkowski, Karol Perlejewski

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Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in <i>DYNC2H1</i> Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skele... by Agnieszka Stembalska, Małgorzata Rydzanicz, Magdalena Klaniewska, Lech Dudarewicz, Agnieszka Pollak, Mateusz Biela, Piotr Stawinski, Rafal Ploski, Robert Smigiel

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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

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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

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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

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Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children—A Single Reference Center Experience by Dorota Piekutowska-Abramczuk, Agata Paszkowska, Elżbieta Ciara, Kamila Frączak, Alicja Mirecka-Rola, Dorota Wicher, Agnieszka Pollak, Karolina Rutkowska, Jędrzej Sarnecki, Lidia Ziółkowska

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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

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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

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Double Heterozygous Pathogenic Variants in the <i>LOX</i> and <i>PKD1</i> Genes in a 5-Year-Old Patient with Thoracic Aortic Aneurysm and Polycystic Kidney Disease by Joanna Kinga Ponińska, Weronika Pelczar-Płachta, Agnieszka Pollak, Katarzyna Jończyk-Potoczna, Grażyna Truszkowska, Ilona Michałowska, Emilia Szafran, Zofia T. Bilińska, Waldemar Bobkowski, Rafał Płoski

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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

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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

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Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked <i>LAS1L</i> Gene by Agnieszka Stembalska, Małgorzata Rydzanicz, Wojciech Walas, Piotr Gasperowicz, Agnieszka Pollak, Victor Murcia Pienkowski, Mateusz Biela, Magdalena Klaniewska, Zuzanna Gamrot, Ewa Gronska, Rafal Ploski, Robert Smigiel

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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

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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

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