doc. RNDr. Petr Kuglík, CSc.

Head, Section of Genetics and Molecular Biology

office: bldg. C13/322
Kamenice 753/5
625 00 Brno

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phone:	+420 549 49 5439
e‑mail:

Basic information

Type

Total number of publications: 334

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
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

Cytogenetické a molekulárně genetické nálezy u pacientky s ICF2 syndromem - kazuistika

NAVAŘÍKOVÁ Marta ŠOUKALOVÁ Jana GROMESOVÁ GROMBIŘÍKOVÁ Hana FILKOVÁ Hana HLADÍLKOVÁ Eva WAYHELOVÁ Markéta KRÁLOVÁ Monika KRMELOVÁ P. KLUKOVÁ Hana FREIBERGER Tomáš SCHNEIDEROVÁ Helena KUGLÍK Petr

Conference abstract

Year: 2020, type: Conference abstract
Large-Scale Automated Hollow-Fiber Bioreactor Expansion of Umbilical Cord-Derived Human Mesenchymal Stromal Cells for Neurological Disorders

VYMETALOVA Ladislava KUCIRKOVA Tereza KNOPFOVA Lucia POSPISILOVA Veronika KASKO Tomas LEJDAROVA Hana MAKATUROVA Eva KUGLÍK Petr ORALOVA Veronika MATALOVA Eva BENES Petr KORISTEK Zdenek FOROSTYAK Serhiy

Article in Periodical

Neurochemical Research, year: 2020, volume: 45, edition: 1, DOI
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