Kathrine Bjørgo
- Consultant
Publications 2024
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease
Brain, 147 (4), 1197-1205
DOI 10.1093/brain/awad434, PubMed 38141063
Publications 2022
A family with cytotoxic T-lymphocyte-associated protein 4 haploinsufficiency presenting with aplastic anaemia
BMJ Case Rep, 15 (2)
DOI 10.1136/bcr-2021-247653, PubMed 35228238
Publications 2021
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Genet Med, 23 (10), 1922-1932
DOI 10.1038/s41436-021-01232-8, PubMed 34163037
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Genet Med, 23 (10), 2016
DOI 10.1038/s41436-021-01306-7, PubMed 34522029
Publications 2020
Psychiatric assessment in Phelan-McDermid Syndrome (22q13 deletion syndrome)
J. Intellect. Dev. Dis., 45 (1), 54-58
DOI 10.3109/13668250.2018.1440135
Publications 2017
Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder
Mol Genet Metab, 121 (4), 325-328
DOI 10.1016/j.ymgme.2017.06.004, PubMed 28673549
Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report
J Med Case Rep, 11 (1), 226
DOI 10.1186/s13256-017-1402-4, PubMed 28814329
Publications 2014
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
Hum Genet, 134 (2), 181-90
DOI 10.1007/s00439-014-1509-2, PubMed 25413698
Publications 2011
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics
Clin Genet, 82 (4), 395-403
DOI 10.1111/j.1399-0004.2011.01810.x, PubMed 22091895
Publications 2008
A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient
Am J Med Genet A, 146A (24), 3230-3
DOI 10.1002/ajmg.a.32582, PubMed 19012337
Publications 2007
Slowly progressing amyotrophic lateral sclerosis caused by H46R SOD1 mutation
Eur Neurol, 58 (1), 57-8
DOI 10.1159/000102170, PubMed 17483589