Publications 2024

Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M et al. (2024)
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease
Brain, 147 (4), 1197-1205
DOI 10.1093/brain/awad434, PubMed 38141063

Mero IL, Orozco Rodriguez JM, Bjørgo K, Hankin RA, Krupinska E, Kulseth MA, Rossow MA, Knecht W (2024)
A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase
Heliyon, 10 (19), e38659
DOI 10.1016/j.heliyon.2024.e38659, PubMed 39430512

Publications 2022

Solhaug TS, Tjønnfjord GE, Bjørgo K, Kildahl-Andersen O (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

Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV et al. (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

Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV et al. (2021)
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

Kildahl AN, Berg LK, Nilssen ALE, Bjorgo K, Rodningen O, Helverschou SB (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

Bjørgo K, Fjær R, Mørk HH, Ferdinandusse S, Falkenberg KD, Waterham HR, Øye AM, Sikiric A, Amundsen SS, Kulseth MA, Selmer K (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

Schinagl C, Melum GR, Rødningen OK, Bjørgo K, Andresen JH (2017)
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

Walz K, Cohen D, Neilsen PM, Foster J, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M (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

De Filippis R, Pancrazi L, Bjørgo K, Rosseto A, Kleefstra T, Grillo E, Panighini A, Cardarelli F, Meloni I, Ariani F, Mencarelli MA, Hayek J, Renieri A, Costa M, Mari F (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

Misceo D, Bjørgo K, Ormerod E, Ringen Ø, Rocchi M, van der Hagen CB, Frengen E (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

Holmøy T, Bjørgo K, Roos PM (2007)
Slowly progressing amyotrophic lateral sclerosis caused by H46R SOD1 mutation
Eur Neurol, 58 (1), 57-8
DOI 10.1159/000102170, PubMed 17483589