Publications 2024

Rustad CF, Backe PH, Jin C, Merckoll E, Tveten K, Maciej-Hulme ML, Karlsson N, Prescott T, Sand ES, Woldseth B, Elgstøen KBP, Holla ØL (2024)
A monoallelic UXS1 variant associated with short-limbed short stature
Mol Genet Genomic Med, 12 (6), e2472
DOI 10.1002/mgg3.2472, PubMed 38860481

Publications 2023

Jacob P, Lindelöf H, Rustad CF, Sutton VR, Moosa S, Udupa P, Hammarsjö A, Bhavani GS, Batkovskyte D, Tveten K, Dalal A, Horemuzova E, Nordgren A, Tham E, Shah H, Merckoll E, Orellana L, Nishimura G, Girisha KM, Grigelioniene G (2023)
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
NPJ Genom Med, 8 (1), 39
DOI 10.1038/s41525-023-00380-x, PubMed 37993442

Publications 2022

Breen AB, Steen H, Pripp A, Gunderson R, Sandberg Mentzoni HK, Merckoll E, Zaidi W, Lambert M, Hvid I, Horn J (2022)
A comparison of 3 different methods for assessment of skeletal age when treating leg-length discrepancies: an inter- and intra-observer study
Acta Orthop, 93, 222-228
DOI 10.2340/17453674.2021.1133, PubMed 35019143

Rustad CF, Prescott TE, Merckoll E, Kristensen E, Salvador CL, Nordgarden H, Tveten K (2022)
Phenotypic expansion of ARSK-related mucopolysaccharidosis
Am J Med Genet A, 188 (11), 3369-3373
DOI 10.1002/ajmg.a.62934, PubMed 35959767

Rustad CF, Tveten K, Braathen GJ, Merckoll E, Kirkhus E, Fossmo HL, Ørstavik K (2022)
A woman in her fifties with chronic muscle weakness
Tidsskr Nor Laegeforen, 142 (1)
DOI 10.4045/tidsskr.21.0038, PubMed 35026081

Rustad CF, Tveten K, Braathen GJ, Merckoll E, Kirkhus E, Fossmo HL, Ørstavik K (2022)
[Correction: A woman in her fifties with chronic muscle weakness]
Tidsskr Nor Laegeforen, 142 (2)
DOI 10.4045/tidsskr.22.0032, PubMed 35107936

Publications 2021

Huhnstock S, Wiig O, Merckoll E, Svenningsen S, Terjesen T (2021)
The modified Stulberg classification is a strong predictor of the radiological outcome 20 years after the diagnosis of Perthes' disease
Bone Joint J, 103-B (12), 1815-1820
DOI 10.1302/0301-620X.103B12.BJJ-2021-0515.R1, PubMed 34847712

Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J et al. (2021)
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
Am J Hum Genet, 108 (5), 857-873
DOI 10.1016/j.ajhg.2021.04.001, PubMed 33961779

Publications 2020

Berntsen KS, Raastad T, Marstein H, Kirkhus E, Merckoll E, Cumming KT, Flatø B, Sjaastad I, Sanner H (2020)
Functional and Structural Adaptations of Skeletal Muscle in Long-Term Juvenile Dermatomyositis: A Controlled Cross-Sectional Study
Arthritis Rheumatol, 72 (5), 837-848
DOI 10.1002/art.41174, PubMed 31746550

Publications 2019

Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D et al. (2019)
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases
Am J Med Genet A, 179 (9), 1884-1894
DOI 10.1002/ajmg.a.61282, PubMed 31313512

Gamage TH, Lengle E, Gunnes G, Pullisaar H, Holmgren A, Reseland JE, Merckoll E, Corti S, Mizobuchi M, Morales RJ, Tsiokas L, Tjønnfjord GE, Lacruz RS, Lyngstadaas SP, Misceo D, Frengen E (2019)
STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
Cell Calcium, 85, 102110
DOI 10.1016/j.ceca.2019.102110, PubMed 31785581

Publications 2018

Juel NG, Brox JI, Hellund JC, Merckoll E, Holte KB, Berg TJ (2018)
Radiological glenohumeral osteoarthritis in long-term type 1 diabetes. Prevalence and reliability of three classification systems. The Dialong shoulder study
Skeletal Radiol, 47 (9), 1245-1251
DOI 10.1007/s00256-018-2923-7, PubMed 29520537

Riise N, Lindberg BR, Kulseth MA, Fredwall SO, Lundby R, Estensen ME, Drolsum L, Merckoll E, Krohg-Sørensen K, Paus B (2018)
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report
BMC Med Genet, 19 (1), 155
DOI 10.1186/s12881-018-0671-0, PubMed 30170566

Sitek JC, Merckoll E, Tølløfsrud PA (2018)
Osteopenia and Multiple Fractures in an Infant With Harlequin Ichthyosis
JAMA Dermatol, 154 (7), 847-849
DOI 10.1001/jamadermatol.2018.0308, PubMed 29710282

Publications 2017

Andersson H, Kirkhus E, Garen T, Walle-Hansen R, Merckoll E, Molberg Ø (2017)
Comparative analyses of muscle MRI and muscular function in anti-synthetase syndrome patients and matched controls: a cross-sectional study
Arthritis Res Ther, 19 (1), 17
DOI 10.1186/s13075-017-1219-y, PubMed 28122635

Huhnstock S, Svenningsen S, Merckoll E, Catterall A, Terjesen T, Wiig O (2017)
Radiographic classifications in Perthes disease
Acta Orthop, 88 (5), 522-529
DOI 10.1080/17453674.2017.1340040, PubMed 28613966

Steineger J, Merckoll E, Slåstad JM, Eriksen EF, Heimdal K, Dheyauldeen S (2017)
Osteonecrosis after intranasal injection with bevacizumab in treating hereditary hemorrhagic telangiectasia: A case report
Laryngoscope, 128 (3), 593-596
DOI 10.1002/lary.26722, PubMed 28671294

Publications 2016

Wang Z, Iida A, Miyake N, Nishiguchi KM, Fujita K, Nakazawa T, Alswaid A, Albalwi MA, Kim OH, Cho TJ, Lim GY, Isidor B, David A, Rustad CF, Merckoll E, Westvik J, Stattin EL, Grigelioniene G, Kou I, Nakajima M, Ohashi H, Smithson S, Matsumoto N, Nishimura G, Ikegawa S (2016)
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
PLoS One, 11 (3), e0150555
DOI 10.1371/journal.pone.0150555, PubMed 26974433

Publications 2015

Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E (2015)
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
Hum Mol Genet, 24 (20), 5845-54
DOI 10.1093/hmg/ddv305, PubMed 26220973

Rustad C, Bjørndalen H, Myhre AG, Heier CA, Horn J, Knaus A, Hvid I, Merckoll E, Tveiterås M, Westvik J (2015)
[Re: Special outpatient clinic for skeletal dysplasias]
Tidsskr Nor Laegeforen, 135 (8), 736
DOI 10.4045/tidsskr.15.0440, PubMed 25947586

Publications 2014

Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J et al. (2014)
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
Am J Hum Genet, 95 (1), 96-107
DOI 10.1016/j.ajhg.2014.05.007, PubMed 24931394

Publications 2010

Sanner H, Kirkhus E, Merckoll E, Tollisen A, Røisland M, Lie BA, Taraldsrud E, Gran JT, Flatø B (2010)
Long-term muscular outcome and predisposing and prognostic factors in juvenile dermatomyositis: A case-control study
Arthritis Care Res (Hoboken), 62 (8), 1103-11
DOI 10.1002/acr.20203, PubMed 20506141

Publications 2003

Brox JI, Finnanger AM, Merckoll E, Lereim P (2003)
Satisfactory long-term results after Eden-Hybbinette-Alvik operation for recurrent anterior dislocation of the shoulder: 6-20 years' follow-up of 52 patients
Acta Orthop Scand, 74 (2), 180-5
DOI 10.1080/00016470310013923, PubMed 12807326

Brox JI, Lereim P, Merckoll E, Finnanger AM (2003)
Radiographic classification of glenohumeral arthrosis
Acta Orthop Scand, 74 (2), 186-9
DOI 10.1080/00016470310013932, PubMed 12807327