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Search for publications relevant for "Loss-of-function variants"
Loss-of-function variants
Publication
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publication
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies
2022 |
Second Faculty of Medicine
publication
Germline CDKN1B loss-of-function variants cause pediatric cushing's disease with or without an MEN4 phenotype
2020 |
Second Faculty of Medicine
publication
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1
2024 |
First Faculty of Medicine
publication
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
2020 |
First Faculty of Medicine
publication
A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants
2019 |
First Faculty of Medicine
publication
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
2021 |
First Faculty of Medicine
publication
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
2023 |
Second Faculty of Medicine
publication
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction
2023 |
First Faculty of Medicine
publication
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia
2020 |
First Faculty of Medicine
publication
A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia
2021 |
First Faculty of Medicine
publication
Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome
2020 |
Second Faculty of Medicine
publication
Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings
2021 |
Second Faculty of Medicine, Central Library of Charles University
publication
Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer
2022 |
Faculty of Medicine in Pilsen
publication
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
2022 |
Second Faculty of Medicine
publication
Cancer Predisposition Genes in Cancer-Free Families
2020 |
Faculty of Medicine in Pilsen
publication
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup
2024 |
Second Faculty of Medicine
publication
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
2020 |
Central Library of Charles University
publication
Genetic insights into biological mechanisms governing human ovarian ageing
2021 |
Faculty of Science
publication
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain
2015 |
Second Faculty of Medicine
publication
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
2017 |
Second Faculty of Medicine
publication
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
2021 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Novel Associations of BST1 and LAMP3 With REM Sleep Behavior Disorder
2021 |
First Faculty of Medicine
publication
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
2023 |
First Faculty of Medicine
publication
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
2021 |
Central Library of Charles University
publication
Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood
2022 |
Second Faculty of Medicine
publication
Germline multigene panel testing of patients with endometrial cancer
2023 |
First Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Science
publication
Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A
2023 |
Faculty of Medicine in Hradec Králové
publication
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
2020 |
Second Faculty of Medicine