Publication list - Publika - Scientific publications from Oslo University Hospital

Publications by Elin Tønne

9 publications found

Original articles

Timberlake AT, Kiziltug E, Jin SC, Nelson-Williams C, Loring E, Yale Center for Genome Analysis, Allocco A, Marlier A, Banka S, Stuart H, Passos-Buenos MR, Rosa R, Rogatto SR, Tonne E, Stiegler AL, Boggon TJ, Alperovich M, Steinbacher D, Staffenberg DA, Flores RL, Persing JA, Kahle KT, Lifton RP (2022)
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis
Hum Genet, 142 (1), 21-32
DOI 10.1007/s00439-022-02477-2, PubMed 35997807

Tønne E, Due-Tønnessen BJ, Vigeland MD, Amundsen SS, Ribarska T, Åsten PM, Sheng Y, Helseth E, Gilfillan GD, Mero IL, Heimdal KR (2022)
Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways
Am J Med Genet A, 188 (5), 1464-1475
DOI 10.1002/ajmg.a.62663, PubMed 35080095

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

Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI et al. (2021)
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Am J Hum Genet, 108 (6), 1053-1068
DOI 10.1016/j.ajhg.2021.04.008, PubMed 33909990

Tønne E, Due-Tønnessen BJ, Mero IL, Wiig US, Kulseth MA, Vigeland MD, Sheng Y, von der Lippe C, Tveten K, Meling TR, Helseth E, Heimdal KR (2020)
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis
Eur J Hum Genet, 29 (6), 920-929
DOI 10.1038/s41431-020-00788-4, PubMed 33288889

Tønne E, Due-Tønnessen BJ, Wiig U, Stadheim BF, Meling TR, Helseth E, Heimdal KR (2020)
Epidemiology of craniosynostosis in Norway
J Neurosurg Pediatr, 26 (1), 68-75
DOI 10.3171/2020.1.PEDS2051, PubMed 32244202

Goscinski MA, Hole KH, Tønne E, Ryder T, Grøholt KK, Flatmark K (2016)
Fibromatosis in vertical rectus abdominis myocutaneous flap imitating tumor recurrence after surgery for locally advanced rectal cancer: case report
World J Surg Oncol, 14, 63
DOI 10.1186/s12957-016-0818-4, PubMed 26940557

Tønne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T (2015)
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM
Eur J Hum Genet, 23 (12), 1652-6
DOI 10.1038/ejhg.2015.30, PubMed 25735484