Germline whole genome sequencing in pediatric oncology in Denmark—Practitioner perspectives

por Byrjalsen, Anna, Stoltze, Ulrik K., Castor, Anders, Wahlberg, Ayo
Publicado 2020

A New Pathogenic Variant of the RTEL1 Gene and Dyskeratosis Congenita: A Dermatological View

por AMIN GULDMANN, Sanaz, BYRJALSEN, Anna, SHAKER, Saher, ELBERLING, Jesper
Publicado 2022

Use of glucocorticoids during pregnancy and risk of attention-deficit/hyperactivity disorder in offspring: a nationwide Danish cohort study

por Laugesen, Kristina, Byrjalsen, Anna, Frøslev, Trine, Olsen, Morten S, Sørensen, Henrik Toft
Publicado 2017

Hereditary polyposis syndromes remain a challenging disease entity: Old dilemmas and new insights

por Pachler, Frederik Rønne, Byrjalsen, Anna, Karstensen, John Gásdal, Jelsig, Anne Marie
Publicado 2023

Use of corticosteroids during pregnancy and risk of asthma in offspring: a nationwide Danish cohort study

por Byrjalsen, Anna, Frøslev, Trine, Telén Andersen, Ane Birgitte, Olsen, Morten, Toft Sørensen, Henrik
Publicado 2014

Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres

por Byrjalsen, Anna, Brainin, Anna Engell, Lund, Thomas Kromann, Andersen, Mette Klarskov, Jelsig, Anne Marie
Publicado 2023

Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier

por Byrjalsen, Anna, Steffensen, Ane Y., Hansen, Thomas v. O., Wadt, Karin, Gerdes, Anne‐Marie
Publicado 2017

Novel Genetic Causes of Gastrointestinal Polyposis Syndromes

por Jelsig, Anne Marie, Byrjalsen, Anna, Busk Madsen, Majbritt, Kuhlmann, Tine Plato, van Overeem Hansen, Thomas, Wadt, Karin A W, Karstensen, John Gásdal
Publicado 2021

Feasibility of salivary DNA collection in a population-based case–control study: a pilot study of pediatric Crohn’s disease

por Kappelman, Michael D, Lange, Aksel, Randell, Rachel L, Basta, Patricia V, Sandler, Robert S, Laugesen, Kristina, Byrjalsen, Anna, Christensen, Tina, Frøslev, Trine, Erichsen, Rune
Publicado 2018

The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification

por Byrjalsen, Anna, Stoltze, Ulrik, Mehrjouy, Mana, Frederiksen, Jane Hübertz, Bak, Mads, Birkedal, Ulf, Hasle, Henrik, Gerdes, Anne‐Marie, Schmiegelow, Kjeld, Wadt, Karin, Hansen, Thomas van Overeem
Publicado 2023

A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome

por Bache, Iben, Wadt, Karin, Mehrjouy, Mana M., Rossing, Maria, Østrup, Olga, Byrjalsen, Anna, Tommerup, Niels, Metzner, Marlen, Vyas, Paresh, Schmiegelow, Kjeld, Lausen, Birgitte, Andersen, Mette K.
Publicado 2020

Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

por Byrjalsen, Anna, Diets, Illja J., Bakhuizen, Jette, Hansen, Thomas van Overeem, Schmiegelow, Kjeld, Gerdes, Anne-Marie, Stoltze, Ulrik, Kuiper, Roland P., Merks, Johannes H. M., Wadt, Karin, Jongmans, Marjolijn
Publicado 2021

Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort

por Stoltze, Ulrik Kristoffer, Hildonen, Mathis, Hansen, Thomas Van Overeem, Foss-Skiftesvik, Jon, Byrjalsen, Anna, Lundsgaard, Malene, Pignata, Laura, Grønskov, Karen, Tumer, Zeynep, Schmiegelow, Kjeld, Brok, Jesper Sune, Wadt, Karin A W
Publicado 2023

Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants

por Stoltze, Ulrik Kristoffer, Hagen, Christian Munch, van Overeem Hansen, Thomas, Byrjalsen, Anna, Gerdes, Anne-Marie, Yakimov, Victor, Rasmussen, Simon, Bækvad-Hansen, Marie, Hougaard, David Michael, Schmiegelow, Kjeld, Hjalgrim, Henrik, Wadt, Karin, Bybjerg-Grauholm, Jonas
Publicado 2023

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes

por Byrjalsen, Anna, Hansen, Thomas V. O., Stoltze, Ulrik K., Mehrjouy, Mana M., Barnkob, Nanna Moeller, Hjalgrim, Lisa L., Mathiasen, René, Lautrup, Charlotte K., Gregersen, Pernille A., Hasle, Henrik, Wehner, Peder S., Tuckuviene, Ruta, Sackett, Peter Wad, Laspiur, Adrian O., Rossing, Maria, Marvig, Rasmus L., Tommerup, Niels, Olsen, Tina Elisabeth, Scheie, David, Gupta, Ramneek, Gerdes, Anne–Marie, Schmiegelow, Kjeld, Wadt, Karin
Publicado 2020