Ketil Heimdal

Oslo University Hospital — Norway

Biochemistry, Genetics and Molecular Biology · Life Sciences

41h-index7.5kcitations157works7.02yr avg
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Research Topics

BRCA gene mutations in cancer(40), Testicular diseases and treatments(27), Genetic factors in colorectal cancer(21), Genomic variations and chromosomal abnormalities(16), Cancer Genomics and Diagnostics(16)

Publications156 total

Gastrointestinal symptoms in adults with Fabry disease and their associations with physical and mental health
BMC Gastroenterology·2025Open Access
Conservation and divergence of metabolic phenotypes between patient tumours and matched xenografts
Nature Metabolism·2025· 3 citedOpen Access
Tracheobronchomalacia is common in children with primary ciliary dyskinesia—A case note review
Pediatric Pulmonology·2024· 1 citedOpen Access
Choanal atresia: A review of surgical outcomes in a tertiary medical center
World Journal of Otorhinolaryngology - Head and Neck Surgery·2024Open Access
Tracheobronchomalacia is common in children with primary ciliary dyskinesia -- a case note review
2024Open Access
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
Science·2024· 41 citedOpen Access
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
Human Genetics and Genomics Advances·2024· 11 citedOpen Access
Gastrointestinal Symptoms in Adults with Fabry Disease and Their Associations with Physical and Mental Health
SSRN Electronic Journal·2024Open Access
Elevated <scp>FVIII</scp> levels in hereditary hemorrhagic telangiectasia: Implications for clinical management
Laryngoscope Investigative Otolaryngology·2023· 3 citedOpen Access
Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice
Orphanet Journal of Rare Diseases·2023· 23 citedOpen Access
Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice
2023· 1 citedOpen Access
<i>TUBB4B</i> variants specifically impact ciliary function, causing a ciliopathic spectrum
2022· 10 citedOpen Access
Whole‐exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways
American Journal of Medical Genetics Part A·2022· 14 citedOpen Access
The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease
Orphanet Journal of Rare Diseases·2021· 12 citedOpen Access
Health‐related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress
JIMD Reports·2021· 19 citedOpen Access
Histological Features of Sporadic and Familial Testicular Germ Cell Tumors Compared and Analysis of Age-Related Changes of Histology
Cancers·2021· 7 citedOpen Access
Head and neck paragangliomas in Norway, importance of genetics, updated diagnostic workup and treatment
Acta Oto-Laryngologica·2020· 17 citedOpen Access
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis
European Journal of Human Genetics·2020· 23 citedOpen Access
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia
Annals of Internal Medicine·2020· 467 cited
The prevalence of tracheobronchomalacia in children with Primary Ciliary Dyskinesia
2020· 1 cited
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Frequent Co-authors

Pål Møller(15), Sophie D. Fosså(8), Jaran Apold(7), D. Timothy Bishop(7), Lovise Mæhle(7), Elizabeth Rapley(6), Kathy Tucker(6), Michael Friedländer(6), David Hogg(6), Axel Heidenreich(6), Peter A. Daly(6), Robert Huddart(6), Douglas F. Easton(6), Michael R. Stratton(6), Kelly‐Anne Phillips(5), Michael A.S. Jewett(5), Radka Lohynská(5), Gedske Daugaard(5), Richard J. Kahnoski(5), Edith Oláh(5)