Kathrine Bjørgo

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

Katherina Walz, Devon Cohen, Paul M. Neilsen et al. · Human Genetics · 2014 · 61 citations · Full text

Knockout Mouse, Autoimmune Disease, Disease Mechanism +8

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata et al. · Genetics in Medicine · 2021 · 47 citations · Full text

Neurobiology Of Disease, Corticobasal Degeneration, Neurological Disorder +9

Expanding the phenotype associated with <i>FOXG1</i> mutations and in vivo FoxG1 chromatin‐binding dynamics

Roberta De Filippis, Laura Pancrazi, Kathrine Bjørgo et al. · Clinical Genetics · 2011 · 27 citations

Forkhead Box G1, Genetics, Genomic Mechanism +21

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

María del Rocío Pérez Baca, Eva Jacobs, Lies Vantomme et al. · The American Journal of Human Genetics · 2024 · 20 citations · Full text

Intellectual Impairment, Key Player, Neurogenesis +8

Biochemical and genetic characterization of an unusual mild PEX3- related Zellweger spectrum disorder

Kathrine Bjørgo, Roar Fjær, Hanne Håberg Mørk et al. · Molecular Genetics and Metabolism · 2017 · 12 citations

Mendelian Disorder, Genetic Disorder, Genetics +6