Publications 2019

Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA et al. (2019)
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Am J Hum Genet, 104 (3), 530-541
DOI 10.1016/j.ajhg.2019.01.010, PubMed 30827496

Publications 2017

Ngcungcu T, Oti M, Sitek JC, Haukanes BI, Linghu B, Bruccoleri R, Stokowy T, Oakeley EJ, Yang F, Zhu J, Sultan M, Schalkwijk J, van Vlijmen-Willems IMJJ, von der Lippe C, Brunner HG, Ersland KM, Grayson W, Buechmann-Moller S, Sundnes O, Nirmala N, Morgan TM, van Bokhoven H, Steen VM, Hull PR, Szustakowski J et al. (2017)
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families
Am J Hum Genet, 100 (5), 737-750
DOI 10.1016/j.ajhg.2017.03.012, PubMed 28457472

von der Lippe C, Diesen PS, Feragen KB (2017)
Living with a rare disorder: a systematic review of the qualitative literature
Mol Genet Genomic Med, 5 (6), 758-773
DOI 10.1002/mgg3.315, PubMed 29178638

von der Lippe C, Frich JC, Harris A, Solbrække KN (2017)
"It was a lot Tougher than I Thought It would be". A Qualitative Study on the Changing Nature of Being a Hemophilia Carrier
J Genet Couns, 26 (6), 1324-1332
DOI 10.1007/s10897-017-0112-9, PubMed 28547664

Publications 2016

von der Lippe C, Frich JC, Harris A, Solbraekke KN (2016)
Treatment of hemophilia: A qualitative study of mothers' perspectives
Pediatr Blood Cancer, 64 (1), 121-127
DOI 10.1002/pbc.26167, PubMed 27472376

von der Lippe C, Frich JC, Harris A, Solbrække KN (2016)
Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study
J Genet Couns, 25 (5), 1085-92
DOI 10.1007/s10897-016-9941-1, PubMed 26948256

Publications 2014

von der Lippe C, Roscher I, Nordgarden H, Rustad C, Larsen SM, Mjøen E, Bratland Å (2014)
Man with macrocephaly, learning disability and multiple basal cell carcinomas
Tidsskr Nor Laegeforen, 134 (11), 1151-4
DOI 10.4045/tidsskr.13.0894, PubMed 24939783

Publications 2010

Holmøy T, Wilson JA, von der Lippe C, Andersen PM, Berg-Hansen P (2010)
G127R: A novel SOD1 mutation associated with rapidly evolving ALS and severe pain syndrome
Amyotroph Lateral Scler, 11 (5), 478-80
DOI 10.3109/17482960903580315, PubMed 20192886

von der Lippe C, Rustad C, Heimdal K, Rødningen OK (2010)
15q11.2 microdeletion - seven new patients with delayed development and/or behavioural problems
Eur J Med Genet, 54 (3), 357-60
DOI 10.1016/j.ejmg.2010.12.008, PubMed 21187176

Publications 2009

Molven A, Søvik O, von der Lippe C, Steine SJ, Njølstad PR, Houge G, Prescott TE (2009)
[Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway]
Tidsskr Nor Laegeforen, 129 (22), 2358-61
DOI 10.4045/tidsskr.09.0267, PubMed 19935936