Publications 2025

Rustad CF, Bragadottir R, Nordgarden H, Miller JUU, Weedon-Fekjær MS, Arfa S, Åsten PM, Tveten K, von der Lippe C, Sigurdardottir S (2025)
Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in Norway
BMJ Open, 15 (4), e095986
DOI 10.1136/bmjopen-2024-095986, PubMed 40262952

Rustad CF, Bragadottir R, Tveten K, Nordgarden H, Miller JU, Åsten PM, Vasconcelos G, Kulseth MA, Holla ØL, Olsen HG, von der Lippe C, Sigurdardottir S (2025)
Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway
Orphanet J Rare Dis, 20 (1), 127
DOI 10.1186/s13023-025-03641-3, PubMed 40087798

Ullmann Miller J, Fauske L, Sigurdardottir S, Arfa S, von der Lippe C (2025)
'In the dark': parents' lifelong commitment to supporting children with Bardet-Biedl syndrome
Health Psychol Behav Med, 13 (1), 2467432
DOI 10.1080/21642850.2025.2467432, PubMed 39968158

Publications 2024

Barish S, Lin SJ, Maroofian R, Gezdirici A, Alhebby H, Trimouille A, Biderman Waberski M, Mitani T, Huber I, Tveten K, Holla ØL, Busk ØL, Houlden H, Ghayoor Karimiani E, Beiraghi Toosi M, Shervin Badv R, Najarzadeh Torbati P, Eghbal F, Akhondian J, Al Safar A, Alswaid A, Zifarelli G, Bauer P, Marafi D, Fatih JM et al. (2024)
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia
Am J Hum Genet, 111 (11), 2566-2581
DOI 10.1016/j.ajhg.2024.10.002, PubMed 39471804

Daae E, Feragen KB, Naerland T, von der Lippe C (2024)
When care hurts: parents' experiences of caring for a child with epidermolysis bullosa
Orphanet J Rare Dis, 19 (1), 492
DOI 10.1186/s13023-024-03502-5, PubMed 39731109

Publications 2023

Landsend ECS, von der Lippe C, Mediå L, Miller JU, Berge KE, Sigurdardottir S (2023)
Relationship between physical and psychological functioning and health-related quality of life in congenital Aniridia
Acta Ophthalmol, 102 (5), 590-599
DOI 10.1111/aos.16615, PubMed 38131258

Sigurdardottir S, von der Lippe C, Media L, Ullmann Miller J, Landsend ECS (2023)
Self-reported symptoms of everyday executive dysfunction, daytime sleepiness, and fatigue and health status among adults with congenital aniridia: a descriptive study
Health Psychol Behav Med, 11 (1), 2263534
DOI 10.1080/21642850.2023.2263534, PubMed 37811316

Publications 2022

Daae E, Feragen KB, Sitek JC, von der Lippe C (2022)
It's more than just lubrication of the skin: parents' experiences of caring for a child with ichthyosis
Health Psychol Behav Med, 10 (1), 335-356
DOI 10.1080/21642850.2022.2053685, PubMed 35402085

von der Lippe C, Neteland I, Feragen KB (2022)
Children with a rare congenital genetic disorder: a systematic review of parent experiences
Orphanet J Rare Dis, 17 (1), 375
DOI 10.1186/s13023-022-02525-0, PubMed 36253830

Publications 2021

Pihlstrøm HK, Weedon-Fekjær MS, Bjerkely BL, von der Lippe C, Ørstavik K, Mathisen P, Heimdal K, Jenssen TG, Dahle DO, Solberg OK, Sigurdardottir S (2021)
Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress
JIMD Rep, 62 (1), 56-69
DOI 10.1002/jmd2.12240, PubMed 34765399

Sigurdardottir S, Bjerkely B, Jenssen TG, Mathisen P, von der Lippe C, Ørstavik K, Heimdal K, Dahle DO, Weedon-Fekjær MS, Solberg O, Pihlstrøm HK (2021)
The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease
Orphanet J Rare Dis, 16 (1), 427
DOI 10.1186/s13023-021-02066-y, PubMed 34641933

von der Lippe C, Tveten K, Prescott TE, Holla ØL, Busk ØL, Burke KB, Sansbury FH, Baptista J, Fry AE, Lim D, Jolles S, Evans J, Osio D, Macmillan C, Bruno I, Faletra F, Climent S, Urreitzi R, Hoenicka J, Palau F, Cohen ASA, Engleman K, Zhou D, Amudhavalli SM, Jeanne M et al. (2021)
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
Am J Med Genet A, 188 (1), 272-282
DOI 10.1002/ajmg.a.62492, PubMed 34515416

Publications 2020

Brede KK, Wandel M, Wiig I, von der Lippe C (2020)
Primary Immunodeficiency Diseases and Gastrointestinal Distress: Coping Strategies and Dietary Experiences to Relieve Symptoms
Qual Health Res, 31 (2), 361-372
DOI 10.1177/1049732320967908, PubMed 33146080

Skjefstad K, Solberg O, Glosli H, von der Lippe C, Feragen KB (2020)
Life expectancy and cause of death in individuals with haemophilia A and B in Norway, 1986-2018
Eur J Haematol, 105 (5), 608-615
DOI 10.1111/ejh.13494, PubMed 32710483

Sorensen IW, Prescott T, Rustad CF, Blinkenberg EO, von der Lippe C (2020)
Gene panel testing
Tidsskr. Nor. Laegeforen., 140 (3), 224-227

Tillerås KH, Kjoelaas SH, Dramstad E, Feragen KB, von der Lippe C (2020)
Psychological reactions to predictive genetic testing for Huntington's disease: A qualitative study
J Genet Couns, 29 (6), 1093-1105
DOI 10.1002/jgc4.1245, PubMed 32162754

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

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