Anna Byrjalsen

Affiliations

Department of Clinical Genetics, Rigshospitalet, Blegdamsvej 9, 2100, KBH Ø, Denmark.

Publications (14)

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

Genome medicine

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

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

PLoS genetics

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

[Telomere biology disorders].

Ugeskrift for laeger

Avec: Anna Byrjalsen , Anette Bygum , Charlotte Kvist Lautrup , Anja Lisbeth Frederiksen , Annette Dam Fialla , Klas Raaschou-Jensen , Elisabeth Bendstrup , Tania Nicole Madsen , Mette Klarskov , Anne Marie Jelsig

Perception and management of cancer predisposition in pediatric cancer centers: A European-wide questionnaire-based survey.

Pediatric blood & cancer

Avec: Jelena Lazic , Oskar A Haas , Ugur Özbek , Tim Ripperger , Anna Byrjalsen , Geertruij Te Kronnie , Auteur inconnu

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

Molecular genetics & genomic medicine

Avec: Anna Byrjalsen , Ulrik Stoltze , Mana Mehrjouy , Jane Hübertz Frederiksen , Mads Bak , Ulf Birkedal , Henrik Hasle , Anne-Marie Gerdes , Kjeld Schmiegelow , Karin Wadt , Thomas van Overeem Hansen

Novel Genetic Causes of Gastrointestinal Polyposis Syndromes.

The application of clinical genetics

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

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

Journal of medical genetics

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

Germline whole genome sequencing in pediatric oncology in Denmark-Practitioner perspectives.

Molecular genetics & genomic medicine

Avec: Anna Byrjalsen , Ulrik K Stoltze , Anders Castor , Ayo Wahlberg

Preimplantation genetic testing in two Danish couples affected by Peutz-Jeghers syndrome.

Scandinavian journal of gastroenterology

Avec: Anna Byrjalsen , Laura Roos , Tue Diemer , John Gásdal Karstensen , Kristine Løssl , Anne Marie Jelsig

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

World journal of gastrointestinal surgery

Avec: Frederik Rønne Pachler , Anna Byrjalsen , John Gásdal Karstensen , Anne Marie Jelsig

Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel.

Familial cancer

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

Genetic predisposition and evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumors.

Neuro-oncology

Avec: Ulrik Kristoffer Stoltze , Jon Foss-Skiftesvik , Thomas van Overeem Hansen , Anna Byrjalsen , Astrid Sehested , David Scheie , Torben Stamm Mikkelsen , Simon Rasmussen , Mads Bak , Henrik Okkels , Michael Thude Callesen , Jane Skjøth-Rasmussen , Anne-Marie Gerdes , Kjeld Schmiegelow , René Mathiasen , Karin Wadt

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

Hereditary cancer in clinical practice

Avec: Anna Byrjalsen , Anna Engell Brainin , Thomas Kromann Lund , Mette Klarskov Andersen , Anne Marie Jelsig

Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort.

European journal of human genetics : EJHG

Avec: Sophia Hammer-Hansen , Ulrik Stoltze , Emil Bartels , Thomas van Overeem Hansen , Anna Byrjalsen , Anne Tybjærg-Hansen , Klaus Juul , Kjeld Schmiegelow , Jacob Tfelt , Henning Bundgaard , Karin Wadt , Birgitte Rode Diness

Réseau de co-auteurs

Kjeld Schmiegelow 7 collaborations

Thomas van Overeem Hansen 6 collaborations

Karin Wadt 6 collaborations

Anne-Marie Gerdes 5 collaborations

Anne Marie Jelsig 5 collaborations

Ulrik Kristoffer Stoltze 3 collaborations

Ulrik Stoltze 3 collaborations

John Gásdal Karstensen 3 collaborations

Simon Rasmussen 2 collaborations

Ulrik K Stoltze 2 collaborations

René Mathiasen 2 collaborations

Henrik Hasle 2 collaborations

David Scheie 2 collaborations

Mads Bak 2 collaborations

Karin A W Wadt 2 collaborations

Jon Foss-Skiftesvik 2 collaborations

Christian Munch Hagen 1 collaboration

Victor Yakimov 1 collaboration

Marie Bækvad-Hansen 1 collaboration

David Michael Hougaard 1 collaboration

Henrik Hjalgrim 1 collaboration

Jonas Bybjerg-Grauholm 1 collaboration

Thomas V O Hansen 1 collaboration

Mana M Mehrjouy 1 collaboration

Nanna Moeller Barnkob 1 collaboration

Lisa L Hjalgrim 1 collaboration

Charlotte K Lautrup 1 collaboration

Pernille A Gregersen 1 collaboration

Peder S Wehner 1 collaboration

Ruta Tuckuviene 1 collaboration

Peter Wad Sackett 1 collaboration

Adrian O Laspiur 1 collaboration

Maria Rossing 1 collaboration

Rasmus L Marvig 1 collaboration

Niels Tommerup 1 collaboration

Tina Elisabeth Olsen 1 collaboration

Ramneek Gupta 1 collaboration

Anette Bygum 1 collaboration

Charlotte Kvist Lautrup 1 collaboration

Anja Lisbeth Frederiksen 1 collaboration

Annette Dam Fialla 1 collaboration

Klas Raaschou-Jensen 1 collaboration

Elisabeth Bendstrup 1 collaboration

Tania Nicole Madsen 1 collaboration

Mette Klarskov 1 collaboration

Jelena Lazic 1 collaboration

Oskar A Haas 1 collaboration

Ugur Özbek 1 collaboration

Tim Ripperger 1 collaboration

Geertruij Te Kronnie 1 collaboration

None None 1 collaboration

Mana Mehrjouy 1 collaboration

Jane Hübertz Frederiksen 1 collaboration

Ulf Birkedal 1 collaboration

Majbritt Busk Madsen 1 collaboration

Tine Plato Kuhlmann 1 collaboration

Mathis Hildonen 1 collaboration

Thomas Van Overeem Hansen 1 collaboration

Malene Lundsgaard 1 collaboration

Laura Pignata 1 collaboration

Karen Grønskov 1 collaboration

Zeynep Tumer 1 collaboration

Jesper Sune Brok 1 collaboration

Anders Castor 1 collaboration

Ayo Wahlberg 1 collaboration

Laura Roos 1 collaboration

Tue Diemer 1 collaboration

Kristine Løssl 1 collaboration

Frederik Rønne Pachler 1 collaboration

Illja J Diets 1 collaboration

Jette Bakhuizen 1 collaboration

Roland P Kuiper 1 collaboration

Johannes H M Merks 1 collaboration

Marjolijn Jongmans 1 collaboration

Astrid Sehested 1 collaboration

Torben Stamm Mikkelsen 1 collaboration

Henrik Okkels 1 collaboration

Michael Thude Callesen 1 collaboration

Jane Skjøth-Rasmussen 1 collaboration

Anna Engell Brainin 1 collaboration

Thomas Kromann Lund 1 collaboration

Mette Klarskov Andersen 1 collaboration

Sophia Hammer-Hansen 1 collaboration

Emil Bartels 1 collaboration

Anne Tybjærg-Hansen 1 collaboration

Klaus Juul 1 collaboration

Jacob Tfelt 1 collaboration

Henning Bundgaard 1 collaboration

Birgitte Rode Diness 1 collaboration