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A. Byrjalsen · SciRah

Researcher profile · Semantic Scholar

A. Byrjalsen

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A. Byrjalsen — researcher profile on SciRah

h-index: 9
Works: 38
Citations: 289

Most-cited papers

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes
A. Byrjalsen, T. Hansen, U. Stoltze, M. Mehrjouy +19 more
2020PLoS Genetics95 citations Open access
Semantic Scholar
Pediatric cancer families’ participation in whole‐genome sequencing research in Denmark: Parent perspectives
A. Byrjalsen, U. Stoltze, K. Wadt, L. Hjalgrim +3 more
2018European Journal of Cancer Care25 citations Open access
Semantic Scholar
Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel
A. Byrjalsen, I. Diets, J. Bakhuizen, T. van Overeem Hansen +7 more
2021Familial Cancer17 citations Open access
Semantic Scholar
Use of glucocorticoids during pregnancy and risk of attention-deficit/hyperactivity disorder in offspring: a nationwide Danish cohort study
K. Laugesen, A. Byrjalsen, T. Frøslev, M. Olsen +1 more
2017BMJ Open14 citations Open access
Semantic Scholar
Genetic predisposition & evolutionary traces of pediatric cancer risk: A prospective 5-year population-based genome sequencing study of children with CNS tumors.
U. Stoltze, J. Foss-Skiftesvik, T. van Overeem Hansen, A. Byrjalsen +12 more
2022Neuro-Oncology13 citations Open access
Semantic Scholar
Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort
U. Stoltze, Mathis Hildonen, T. van Overeem Hansen, J. Foss-Skiftesvik +8 more
2023Journal of Medical Genetics12 citations Open access
Semantic Scholar
Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier
A. Byrjalsen, Ane Y. Steffensen, Thomas V. O. Hansen, Karin A. W. Wadt +1 more
2017Clinical Case Reports12 citations Open access
Semantic Scholar
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres
A. Byrjalsen, Anna Engell Brainin, T. Lund, M. Andersen +1 more
2023Hereditary Cancer in Clinical Practice9 citations Open access
Semantic Scholar
Novel Genetic Causes of Gastrointestinal Polyposis Syndromes
A. M. Jelsig, A. Byrjalsen, Majbritt Busk Madsen, T. Kuhlmann +3 more
2021The Application of Clinical Genetics9 citations Open access
Semantic Scholar
Overt and covert genetic causes of pediatric acute lymphoblastic leukemia
U. Stoltze, S. Junk, A. Byrjalsen, Hélène Cavé +15 more
2025Leukemia8 citations
Semantic Scholar
Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndrome
Heidi Hesselø Brinch, A. Byrjalsen, Zuzana Lohse, Andreas Ørslev Rasmussen +3 more
2024Familial Cancer8 citations Open access
Semantic Scholar
Use of corticosteroids during pregnancy and risk of asthma in offspring: a nationwide Danish cohort study
A. Byrjalsen, T. Frøslev, Ane Birgitte Telén Andersen, M. Olsen +1 more
2014BMJ Open8 citations Open access
Semantic Scholar
Preimplantation genetic testing in two Danish couples affected by Peutz–Jeghers syndrome
A. Byrjalsen, Laura Roos, T. Diemer, J. Karstensen +2 more
2022Scandinavian Journal of Gastroenterology7 citations Open access
Semantic Scholar
Germline whole genome sequencing in pediatric oncology in Denmark—Practitioner perspectives
A. Byrjalsen, U. Stoltze, A. Castor, Ayo Wahlberg
2020Molecular Genetics & Genomic Medicine7 citations Open access
Semantic Scholar
Staphylococcus aureus is a major pathogen in severe acute bacterial rhinosinusitis.
A. Byrjalsen, T. Ovesen, T. Kjaergaard
2014Rhinology7 citations Open access
Semantic Scholar
Living a Cancer Surveillance Life: A Meta‐Ethnographic Synthesis of Everyday Experiences and Ambivalences for Women Living With Hereditary Risk of Breast and/or Ovarian Cancer
Julie Isabelle Plougmann Gislinge, A. Byrjalsen, Klara Vinsand Naver, H. Clausen +4 more
2024Psycho-Oncology5 citations Open access
Semantic Scholar
Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort
Sophia Hammer-Hansen, U. Stoltze, E. Bartels, T. van Overeem Hansen +8 more
2024European Journal of Human Genetics5 citations Open access
Semantic Scholar
Prostate-specific antigen screening at low thresholds of men with pathogenic BRCA1/2 variants
H. Stroomberg, K. Brasso, A. A. Blak, A. Byrjalsen +2 more
2025Prostate Cancer and Prostatic Diseases4 citations Open access
Semantic Scholar
Childhood Cancer Predisposition and Evolutionary Constraints: Novel lessons from Germline Genomes from 1,127 Children with Cancer.
U. Stoltze, T. van Overeem Hansen, J. Foss-Skiftesvik, A. Byrjalsen +31 more
2025Clinical Cancer Research4 citations
Semantic Scholar
Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer
A. Byrjalsen, U. Stoltze, C. Lautrup, Lise Lotte Christensen +9 more
2024Journal of Medical Genetics4 citations
Semantic Scholar
A New Pathogenic Variant of the RTEL1 Gene and Dyskeratosis Congenita: A Dermatological View
Sanaz Amin Guldmann, A. Byrjalsen, Saher M. Shaker, J. Elberling
2022Acta Dermato-Venereologica4 citations Open access
Semantic Scholar
A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome
I. Bache, K. Wadt, M. Mehrjouy, M. Rossing +8 more
2020Blood Cancer Journal4 citations Open access
Semantic Scholar
Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants
U. Stoltze, C. Hagen, T. van Overeem Hansen, A. Byrjalsen +9 more
2023Genome Medicine3 citations Open access
Semantic Scholar
Microdissection testicular sperm extraction after pediatric allogeneic hematopoietic stem cell transplantation: a case series
S. Mathiesen, Christian Fuglesang S. Jensen, A. Byrjalsen, L. Aksglaede +4 more
2023Bone Marrow Transplantation1 citations
Semantic Scholar
Hereditary polyposis syndromes remain a challenging disease entity: Old dilemmas and new insights
F. Pachler, A. Byrjalsen, J. Karstensen, A. M. Jelsig
2023World Journal of Gastrointestinal Surgery1 citations Open access
Semantic Scholar
Perception and management of cancer predisposition in pediatric cancer centers: A European‐wide questionnaire‐based survey
J. Lazic, O. Haas, Uğur Özbek, T. Ripperger +2 more
2023Pediatric Blood & Cancer1 citations
Semantic Scholar
Population-based whole-genome sequencing with constrained gene analysis identifies predisposing germline variants in children with central nervous system tumors
J. Foss-Skiftesvik, U. Stoltze, T. van Overeem Hansen, A. Byrjalsen +12 more
2022medRxiv1 citations Open access
Semantic Scholar
[Germ line mutations causing paediatric cancer predisposition syndromes are common in children and adolescents with cancer].
U. Stoltze, A. Byrjalsen, L. Hjalgrim, Ayo Wahlberg +4 more
2018Ugeskrift for læger1 citations
Semantic Scholar
Feasibility of salivary DNA collection in a population-based case–control study: a pilot study of pediatric Crohn’s disease
M. Kappelman, A. Lange, R. Randell, P. Basta +6 more
2018Clinical Epidemiology1 citations Open access
Semantic Scholar
Interpreting TP53 variants: somatic mosaicism and ERCC6L2-driven clonal evolution
Amalie Noergaard Andersson, A. Byrjalsen, I. Tuxen, M. Andersen +2 more
2026Journal of Medical Genetics0 citations
Semantic Scholar
Low-cost rare variant detection for population scale genetic screening
M. C. Nielsen, C. Mentzel, U. Stoltze, C. Hagen +19 more
2026medRxiv0 citations Open access
Semantic Scholar
Re-evaluating hereditary breast and ovarian cancer risk: clinical impact of updated multigene panel sequencing and genetic counseling
Julie Isabelle Plougmann Gislinge, A. Byrjalsen, Klara Vinsand Naver, H. Clausen +3 more
2026Familial Cancer0 citations Open access
Semantic Scholar
Case report: Onychopapilloma in a patient with BAP1 tumor predisposition syndrome—a useful clinical marker?
Emilie Sjøstrøm, Lise B. Ahlborn, E. V. Eliesen, K. Wadt +2 more
2026Familial Cancer0 citations Open access
Semantic Scholar
DoBSeqWF: a framework for sensitive detection of individual genetic variation in pooled sequencing data
Mads Cort Nielsen, C. Hagen, U. Stoltze, T. van Overeem Hansen +8 more
2025medRxiv0 citations Open access
Semantic Scholar
The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification
A. Byrjalsen, U. Stoltze, M. Mehrjouy, J. H. Frederiksen +7 more
2023Molecular Genetics & Genomic Medicine0 citations Open access
Semantic Scholar
Rare germline chromosome 1 duplication identified in young male with colon cancer: a case report investigating causality
A. Byrjalsen, Sara L. Garcia, L. Borgwardt, Karin A. W. Wadt +2 more
2023Journal of Gastrointestinal Oncology0 citations Open access
Semantic Scholar
[Telomere biology disorders].
A. Byrjalsen, A. Bygum, C. Lautrup, A. Frederiksen +6 more
2022Ugeskrift for læger0 citations
Semantic Scholar
TACG_A_295157 455..466
A. M. Jelsig, A. Byrjalsen, M. B. Madsen, T. Kuhlmann +3 more
20210 citations
Semantic Scholar

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