MUDr. Renata Gaillyová, Ph.D.

2022

• Next-generation sequencing in children with epilepsy: The importance of precise genotype–phenotype correlation

  HORÁK Ondřej BUREŠOVÁ Martina KOLÁŘ Senad ŠPANĚLOVÁ Klára JEŘÁBKOVÁ Barbora GAILLYOVÁ Renata ČESKÁ Katarína RÉBLOVÁ Kamila ŠOUKALOVÁ Jana ZÍDKOVÁ Jana FAJKUSOVÁ Lenka OŠLEJŠKOVÁ Hana REKTOR Ivan DANHOFER Pavlína

  Article in Periodical

  EPILEPSY & BEHAVIOR, year: 2022, volume: 128, edition: March 2022, DOI

• Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development

  WAYHELOVÁ Markéta VALLOVÁ Vladimíra BROŽ Petr MIKULÁŠOVÁ Aneta LOUBALOVÁ Dominika FILKOVÁ Hana SMETANA Jan DRÁBOVÁ Klára GAILLYOVÁ Renata KUGLÍK Petr

  Article in Periodical

  Journal of Human Genetics, year: 2022, volume: 67, edition: 4, DOI

• The clinical benefit of trio-based whole-exome sequencing for the detection of rare pathogenic sequence variants in paediatric patients with undiagnosed neurodevelopmental disorders

  WAYHELOVÁ Markéta VALLOVÁ Vladimíra SMETANA Jan BROŽ Petr MIKULÁŠOVÁ Aneta GAILLYOVÁ Renata KUGLÍK Petr

  Conference abstract

  Year: 2022, type: Conference abstract

2021

• Effectivity of whole-exome sequencing in copy number variant detection in children with neurodevelopmental disorders

  VALLOVÁ Vladimíra LOUBALOVÁ Dominika WAYHELOVÁ Markéta BROŽ Petr MIKULÁŠOVÁ Aneta SMETANA Jan GAILLYOVÁ Renata KUGLÍK Petr

  Conference abstract

  Year: 2021, type: Conference abstract

• Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation

  SYNKOVÁ Iva BÉBAROVÁ Markéta ANDRŠOVÁ Irena CHMELIKOVA Larisa ŠVECOVÁ Olga HOSEK Jan PÁSEK Michal VÍT Pavel VALÁŠKOVÁ Iveta GAILLYOVÁ Renata NAVRATIL Rostislav NOVOTNÝ Tomáš

  Article in Periodical

  Nature Scientific Reports, year: 2021, volume: 11, edition: 1, DOI

• Neobvyklý cytogenetický nález u probanda s retardací psychomotorického vývoje a stigmatizací – kazuistika.

  NAVAŘÍKOVÁ Marta WAYHELOVÁ Markéta NIKOLOVÁ Pavlína VILÉMOVÁ M. FILKOVÁ Hana HLADÍLKOVÁ Eva VEČERKOVÁ P. GAILLYOVÁ Renata KUGLÍK Petr

  Conference abstract

  Year: 2021, type: Conference abstract

• Whole-exome sequencing as an effective tool for the detection of DNA sequence and structural variants in the pathogenesis of neurodevelopmental disorders

  WAYHELOVÁ Markéta VALLOVÁ Vladimíra SMETANA Jan BROŽ Petr MIKULÁŠOVÁ Aneta LOUBALOVÁ Dominika GAILLYOVÁ Renata KUGLÍK Petr

  Conference abstract

  Year: 2021, type: Conference abstract

2020

• Next generation sequencing in newborn screening for cystic fibrosis

  VINOHRADSKÁ Jana VALÁŠKOVÁ Iveta GAILLYOVÁ Renata

  Conference abstract

  Year: 2020, type: Conference abstract

• Novel Familial IQSEC2 Pathogenic Sequence Variant Associated With Neurodevelopmental Disorders and Epilepsy

  WAYHELOVÁ Markéta RYZÍ Michal OPPELT Jan HLADÍLKOVÁ Eva VALLOVÁ Vladimíra KRSKOVÁ Lenka VILÉMOVÁ Marcela POLÁČKOVÁ Hana GAILLYOVÁ Renata KUGLÍK Petr

  Article in Periodical

  Neurogenetics, year: 2020, volume: 21, edition: 4, DOI

2019

• "Two hit" model as an explanation of variable expressivity of recurrent submicroscopic chromosomal rearrangements in children with intellectual disability and developmental delay

  WAYHELOVÁ Markéta HLADÍLKOVÁ Eva VALLOVÁ Vladimíra SMETANA Jan FILKOVÁ Hana GAILLYOVÁ Renata KUGLÍK Petr

  Conference abstract

  Year: 2019, type: Conference abstract