doc. RNDr. Petr Kuglík, CSc.

2020

• 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

• The clinical utility of targeted NGS in neurodevelopmental disorders: a case of a girl with pontocerebellar hypoplasia caused by TSEN54 gene pathogenic variants

  WAYHELOVÁ Markéta VALLOVÁ Vladimíra HLADÍLKOVÁ Eva FILKOVÁ Hana OPPELT Jan ŠOUKALOVÁ Jana KUGLÍK Petr

  Conference abstract

  Year: 2020, type: Conference abstract

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

• Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse

  SMETANA Jan OPPELT Jan STORK M. POUR L. KUGLÍK Petr

  Conference abstract

  Year: 2019, type: Conference abstract

• Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay

  WAYHELOVÁ Markéta OPPELT Jan SMETANA Jan HLADÍLKOVÁ Eva FILKOVÁ Hana MAKATUROVÁ Eva NIKOLOVÁ Petra BEHARKA Rastislav GAILLYOVÁ Renata KUGLÍK Petr

  Article in Periodical

  Molecular Medicine Reports, year: 2019, volume: 20, edition: 1, DOI

• The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

  WAYHELOVÁ Markéta SMETANA Jan VALLOVÁ Vladimíra HLADÍLKOVÁ Eva FILKOVÁ Hana HANÁKOVÁ Marta VILÉMOVÁ Marcela NIKOLOVÁ Petra GROMESOVÁ Barbora GAILLYOVÁ Renata KUGLÍK Petr

  Article in Periodical

  BMC MEDICAL GENOMICS, year: 2019, volume: 12, edition: 1, DOI

2018

• Circulating exosomal long noncoding RNA PRINS-First findings in monoclonal gammopathies

  SEDLAŘÍKOVÁ Lenka BOLLOVÁ Božena RADOVÁ Lenka BROŽOVÁ Lucie JARKOVSKÝ Jiří ALMÁŠI Martina PENKA Miroslav KUGLÍK Petr SANDECKÁ Viera ŠTORK Martin POUR Luděk ŠEVČÍKOVÁ Sabina

  Article in Periodical

  Hematological Oncology, year: 2018, volume: 36, edition: 5, DOI

• Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse

  SMETANA Jan OPPELT Jan ŠTORK Martin POUR Luděk KUGLÍK Petr

  Article in Periodical

  MOLECULAR CYTOGENETICS, year: 2018, volume: 11, edition: JAN, DOI

2017

• Deregulated expression of long non-coding RNA UCA1 in multiple myeloma

  SEDLAŘÍKOVÁ Lenka GROMESOVÁ Barbora KUBACZKOVÁ Veronika RADOVÁ Lenka FILIPOVA Jana JARKOVSKÝ Jiří BROŽOVÁ Lucie VELICHOVÁ Roberta ALMÁŠI Martina PENKA Miroslav BEZDĚKOVÁ Renata ŠTORK Martin ADAM Zdeněk POUR Luděk KREJČÍ Marta KUGLÍK Petr HÁJEK Roman ŠEVČÍKOVÁ Sabina

  Article in Periodical

  European Journal of Haematology, year: 2017, volume: 99, edition: 3, DOI

• The clinical impact of targeted „next-generation“ sequencing in molecular diagnostics of intellectual disabilities and multiple congenital abnormalities

  WAYHELOVÁ Markéta OPPELT Jan SMETANA Jan PARDY Filip FILKOVÁ Hana GAILLYOVÁ Renata KUGLÍK Petr

  Appeared in Conference without Proceedings

  Year: 2017, type: Appeared in Conference without Proceedings