- De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies2022 | 2. lékařská fakulta
- Germline CDKN1B loss-of-function variants cause pediatric cushing's disease with or without an MEN4 phenotype2020 | 2. lékařská fakulta
- Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN12024 | 1. lékařská fakulta
- Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities2020 | 1. lékařská fakulta
- A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants2019 | 1. lékařská fakulta
- Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy2021 | 1. lékařská fakulta
- Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-192023 | 2. lékařská fakulta
- Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction2023 | 1. lékařská fakulta
- Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia2020 | 1. lékařská fakulta
- A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia2021 | 1. lékařská fakulta
- Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome2020 | 2. lékařská fakulta
- Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings2021 | 2. lékařská fakulta, Ústřední knihovna
- Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer2022 | Lékařská fakulta v Plzni
- Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder2022 | 2. lékařská fakulta
- Cancer Predisposition Genes in Cancer-Free Families2020 | Lékařská fakulta v Plzni
- Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup2024 | 2. lékařská fakulta
- Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy2020 | Ústřední knihovna
- Genetic insights into biological mechanisms governing human ovarian ageing2021 | Přírodovědecká fakulta
- HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain2015 | 2. lékařská fakulta
- Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features2017 | 2. lékařská fakulta
- Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities2021 | 2. lékařská fakulta, 1. lékařská fakulta
- Novel Associations of BST1 and LAMP3 With REM Sleep Behavior Disorder2021 | 1. lékařská fakulta
- ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability2023 | 1. lékařská fakulta
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals2021 | Ústřední knihovna
- Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood2022 | 2. lékařská fakulta
- Germline multigene panel testing of patients with endometrial cancer2023 | 1. lékařská fakulta, Lékařská fakulta v Plzni, Přírodovědecká fakulta
- Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A2023 | Lékařská fakulta v Hradci Králové
- Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia2020 | 2. lékařská fakulta