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The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2232
By:
- 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
Publication type:
Article
Germline whole genome sequencing in pediatric oncology in Denmark—Practitioner perspectives.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1276
By:
- Byrjalsen, Anna;
- Stoltze, Ulrik K.;
- Castor, Anders;
- Wahlberg, Ayo
Publication type:
Article
Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01167-6
By:
- 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
Publication type:
Article
The evolutionary impact of childhood cancer on the human gene pool.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45975-9
By:
- Stoltze, Ulrik Kristoffer;
- Foss-Skiftesvik, Jon;
- Hansen, Thomas van Overeem;
- Rasmussen, Simon;
- Karczewski, Konrad J.;
- Wadt, Karin A. W.;
- Schmiegelow, Kjeld
Publication type:
Article
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes.
Published in:
PLoS Genetics, 2020, v. 16, n. 12, p. 1, doi. 10.1371/journal.pgen.1009231
By:
- 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
Publication type:
Article
Molecular reclassification reveals low prevalence of germline predisposition in children with ependymoma.
Published in:
Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01594-x
By:
- Foss-Skiftesvik, Jon;
- Mathiasen, René;
- van Overeem Hansen, Thomas;
- Wadt, Karin;
- Schmiegelow, Kjeld;
- Stoltze, Ulrik Kristoffer
Publication type:
Article
Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort.
Published in:
Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01429-1
By:
- Foss-Skiftesvik, Jon;
- Stoltze, Ulrik Kristoffer;
- van Overeem Hansen, Thomas;
- Ahlborn, Lise Barlebo;
- Sørensen, Erik;
- Ostrowski, Sisse Rye;
- Kullegaard, Solvej Margrete Aldringer;
- Laspiur, Adrian Otamendi;
- Melchior, Linea Cecilie;
- Scheie, David;
- Kristensen, Bjarne Winther;
- Skjøth-Rasmussen, Jane;
- Schmiegelow, Kjeld;
- Wadt, Karin;
- Mathiasen, René
Publication type:
Article
Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel.
Published in:
Familial Cancer, 2021, v. 20, n. 4, p. 279, doi. 10.1007/s10689-021-00254-0
By:
- 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
Publication type:
Article
Genetic predisposition to central nervous system tumors in children — what the neurosurgeon should know.
Published in:
Acta Neurochirurgica, 2022, v. 164, n. 11, p. 3025, doi. 10.1007/s00701-022-05258-y
By:
- Foss-Skiftesvik, Jon;
- Stoltze, Ulrik Kristoffer
Publication type:
Article
9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 4, p. 1, doi. 10.1101/mcs.a006164
By:
- Jensen, Marlene Richter;
- Stoltze, Ulrik;
- Van Overeem Hansen, Thomas;
- Bak, Mads;
- Sehested, Astrid;
- Rechnitzer, Catherine;
- Mathiasen, René;
- Scheie, David;
- Larsen, Karen Bonde;
- Olsen, Tina Elisabeth;
- Muhic, Aida;
- Skjøth-Rasmussen, Jane;
- Rossing, Maria;
- Schmiegelow, Kjeld;
- Wadt, Karin
Publication type:
Article
Multi-ancestry genome-wide association study of 4069 children with glioma identifies 9p21.3 risk locus.
Published in:
Neuro-Oncology, 2023, v. 25, n. 9, p. 1709, doi. 10.1093/neuonc/noad042
By:
- Foss-Skiftesvik, Jon;
- Li, Shaobo;
- Rosenbaum, Adam;
- Hagen, Christian Munch;
- Stoltze, Ulrik Kristoffer;
- Ljungqvist, Sally;
- Hjalmars, Ulf;
- Schmiegelow, Kjeld;
- Morimoto, Libby;
- Smith, Adam J de;
- Mathiasen, René;
- Metayer, Catherine;
- Hougaard, David;
- Melin, Beatrice;
- Walsh, Kyle M;
- Bybjerg-Grauholm, Jonas;
- Dahlin, Anna M;
- Wiemels, Joseph L
Publication type:
Article
Genetic predisposition and evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumors.
Published in:
Neuro-Oncology, 2023, v. 25, n. 4, p. 761, doi. 10.1093/neuonc/noac187
By:
- Stoltze, Ulrik Kristoffer;
- Foss-Skiftesvik, Jon;
- Hansen, Thomas van Overeem;
- Byrjalsen, Anna;
- Sehested, Astrid;
- Scheie, David;
- Mikkelsen, Torben Stamm;
- Rasmussen, Simon;
- Bak, Mads;
- Okkels, Henrik;
- Callesen, Michael Thude;
- Skjøth-Rasmussen, Jane;
- Gerdes, Anne-Marie;
- Schmiegelow, Kjeld;
- Mathiasen, René;
- Wadt, Karin
Publication type:
Article
Pediatric cancer families' participation in whole‐genome sequencing research in Denmark: Parent perspectives.
Published in:
European Journal of Cancer Care, 2018, v. 27, n. 6, p. N.PAG, doi. 10.1111/ecc.12877
By:
- Byrjalsen, Anna;
- Stoltze, Ulrik;
- Wadt, Karin;
- Hjalgrim, Lisa Lyngsie;
- Gerdes, Anne‐Marie;
- Schmiegelow, Kjeld;
- Wahlberg, Ayo
Publication type:
Article
Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark.
Published in:
PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0190050
By:
- Stoltze, Ulrik;
- Skytte, Anne-Bine;
- Roed, Henriette;
- Hasle, Henrik;
- Ejlertsen, Bent;
- Overeem Hansen, Thomas van;
- Schmiegelow, Kjeld;
- Gerdes, Anne-Marie;
- Wadt, Karin
Publication type:
Article
Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility.
Published in:
PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0180488
By:
- Archer, Natalie P.;
- Perez-Andreu, Virginia;
- Stoltze, Ulrik;
- Scheurer, Michael E.;
- Wilkinson, Anna V.;
- Lin, Ting-Nien;
- Qian, Maoxiang;
- Goodings, Charnise;
- Swartz, Michael D.;
- Ranjit, Nalini;
- Rabin, Karen R.;
- Peckham-Gregory, Erin C.;
- Plon, Sharon E.;
- de Alarcon, Pedro A.;
- Zabriskie, Ryan C.;
- Antillon-Klussmann, Federico;
- Najera, Cesar R.;
- Yang, Jun J.;
- Lupo, Philip J.
Publication type:
Article
RosettaDDGPrediction for high‐throughput mutational scans: From stability to binding.
Published in:
Protein Science: A Publication of the Protein Society, 2023, v. 32, n. 1, p. 1, doi. 10.1002/pro.4527
By:
- Sora, Valentina;
- Laspiur, Adrian Otamendi;
- Degn, Kristine;
- Arnaudi, Matteo;
- Utichi, Mattia;
- Beltrame, Ludovica;
- De Menezes, Dayana;
- Orlandi, Matteo;
- Stoltze, Ulrik Kristoffer;
- Rigina, Olga;
- Sackett, Peter Wad;
- Wadt, Karin;
- Schmiegelow, Kjeld;
- Tiberti, Matteo;
- Papaleo, Elena
Publication type:
Article

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