Concepedia

Gaber Bergant

GB

Statistics

Publications

10

Citations

306

H-Index

10

Active since

2017

Affiliations

Ljubljana University Medical Centre(Current)

Inserm

University of Ljubljana

University Medical Center Utrecht

Centre National de la Recherche Scientifique

Gaber Bergant is an author at Ljubljana University Medical Centre specializing in life sciences, genetics, and exome sequencing.

Publications per year

2017–2024

10

Publications

10

Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases

Gaber Bergant, Aleš Maver, Luca Lovrečić et al. · Genetics in Medicine · 2017 · 85 citations · Full text

Medicine, Bioinformatics, Molecular Medicine +16

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini et al. · The American Journal of Human Genetics · 2023 · 43 citations · Full text

Life Sciences, Neurobiology, Neuroscience +16

Loss‐of‐Function Mutations in <i>NR4A2</i> Cause Dopa‐Responsive Dystonia Parkinsonism

Thomas Wirth, Louise‐Laure Mariani, Gaber Bergant et al. · Movement Disorders · 2020 · 37 citations

Life Sciences, Genetics, Neurology +17

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

Ashfaque Ahmed, Meng Wang, Gaber Bergant et al. · Human Genetics · 2020 · 29 citations

Medicine, Genetics, Neurology +14

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

Hellen Lesmann, Alexander Hustinx, Shahida Moosa et al. · medRxiv · 2023 · 24 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

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