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Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome.
Published in:
Case Reports in Genetics, 2019, p. 1, doi. 10.1155/2019/9650184
By:
- Askaner, Gustav;
- Lei, Ulrikke;
- Bertelsen, Birgitte;
- Venzo, Alessandro;
- Wadt, Karin
Publication type:
Article
Microduplication of 15q13.3 and Xq21.31 in a family with tourette syndrome and comorbidities.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 8, p. 825, doi. 10.1002/ajmg.b.32186
By:
- Melchior, Linea;
- Bertelsen, Birgitte;
- Debes, Nanette Mol;
- Groth, Camilla;
- Skov, Liselotte;
- Mikkelsen, Jens D;
- Brøndum‐Nielsen, Karen;
- Tümer, Zeynep
Publication type:
Article
High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0087-6
By:
- Bertelsen, Birgitte;
- Tuxen, Ida Viller;
- Yde, Christina Westmose;
- Gabrielaite, Migle;
- Torp, Mathias Husted;
- Kinalis, Savvas;
- Oestrup, Olga;
- Rohrberg, Kristoffer;
- Spangaard, Iben;
- Santoni-Rugiu, Eric;
- Wadt, Karin;
- Mau-Sorensen, Morten;
- Lassen, Ulrik;
- Nielsen, Finn Cilius
Publication type:
Article
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.
Published in:
Cancers, 2020, v. 12, n. 2, p. 292, doi. 10.3390/cancers12020292
By:
- Figlioli, Gisella;
- Kvist, Anders;
- Tham, Emma;
- Soukupova, Jana;
- Kleiblova, Petra;
- Muranen, Taru A;
- Andrieu, Nadine;
- Azzollini, Jacopo;
- Balmaña, Judith;
- Barroso, Alicia;
- Benítez, Javier;
- Bertelsen, Birgitte;
- Blanco, Ana;
- Bonanni, Bernardo;
- Borg, Åke;
- Brunet, Joan;
- Calistri, Daniele;
- Calvello, Mariarosaria;
- Chvojka, Stepan;
- Cortesi, Laura
Publication type:
Article
Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1283, doi. 10.1038/ejhg.2014.24
By:
- Bertelsen, Birgitte;
- Melchior, Linea;
- Jensen, Lars R;
- Groth, Camilla;
- Glenthøj, Birte;
- Rizzo, Renata;
- Debes, Nanette Mol;
- Skov, Liselotte;
- Brøndum-Nielsen, Karen;
- Paschou, Peristera;
- Silahtaroglu, Asli;
- Tümer, Zeynep
Publication type:
Article
Thyrotoxic periodic paralysis in a Caucasian man without identifiable genetic predisposition: a case report.
Published in:
Thyroid Research, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13044-023-00152-w
By:
- Heydorn, Arne;
- Bertelsen, Birgitte;
- Nolsöe, Rúna Louise Mortansdóttir;
- Eiken, Pia;
- Kristensen, Peter Lommer
Publication type:
Article
Investigation of SNP rs2060546 Immediately Upstream to NTN4 in a Danish Gilles de la Tourette Syndrome Cohort.
Published in:
Frontiers in Neuroscience, 2016, v. 10, p. 1, doi. 10.3389/fnins.2016.00531
By:
- Padmanabhuni, Shanmukha S.;
- Houssari, Rayan;
- Esserlind, Ann-Louise;
- Olesen, Jes;
- Werge, Thomas M.;
- Hansen, Thomas F.;
- Bertelsen, Birgitte;
- Tsetsos, Fotis;
- Paschou, Peristera;
- Tümer, Zeynep;
- Dundar, Munis;
- Chakraborty, Suhash
Publication type:
Article
Association Study of CHRNA7 Promoter Variants with Sensory and Sensorimotor Gating in Schizophrenia Patients and Healthy Controls: A Danish Case-Control Study.
Published in:
NeuroMolecular Medicine, 2015, v. 17, n. 4, p. 423, doi. 10.1007/s12017-015-8371-9
By:
- Bertelsen, Birgitte;
- Oranje, Bob;
- Melchior, Linea;
- Fagerlund, Birgitte;
- Werge, Thomas;
- Mikkelsen, Jens;
- Tümer, Zeynep;
- Glenthøj, Birte
Publication type:
Article
Germline RBBP8 variants associated with early-onset breast cancer compromise replication fork stability.
Published in:
2020
By:
- Zarrizi, Reihaneh;
- Higgs, Martin R.;
- Voßgröne, Karolin;
- Rossing, Maria;
- Bertelsen, Birgitte;
- Bose, Muthiah;
- Kousholt, Arne Nedergaard;
- Rösner, Heike;
- Ejlertsen, Bent;
- Stewart, Grant S.;
- Nielsen, Finn Cilius;
- Sørensen, Claus S.;
- Network, The Complexo
Publication type:
journal article
Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome: A nationwide study.
Published in:
Clinical Genetics, 2023, v. 104, n. 1, p. 81, doi. 10.1111/cge.14337
By:
- Jelsig, Anne Marie;
- van Overeem Hansen, Thomas;
- Gede, Lene Bjerring;
- Qvist, Niels;
- Christensen, Lise‐Lotte;
- Lautrup, Charlotte Kvist;
- Frederiksen, Jane Hübertz;
- Sunde, Lone;
- Ousager, Lilian Bomme;
- Ljungmann, Ken;
- Bertelsen, Birgitte;
- Karstensen, John Gásdal
Publication type:
Article
Whole genome sequencing in clinical practice.
Published in:
BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01795-w
By:
- Bagger, Frederik Otzen;
- Borgwardt, Line;
- Jespersen, Andreas Sand;
- Hansen, Anna Reimer;
- Bertelsen, Birgitte;
- Kodama, Miyako;
- Nielsen, Finn Cilius
Publication type:
Article
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study.
Published in:
Familial Cancer, 2023, v. 22, n. 4, p. 429, doi. 10.1007/s10689-023-00338-z
By:
- Jelsig, Anne Marie;
- van Overeem Hansen, Thomas;
- Gede, Lene Bjerring;
- Qvist, Niels;
- Christensen, Lise-Lotte;
- Lautrup, Charlotte Kvist;
- Ljungmann, Ken;
- Christensen, Louise Torp;
- Rønlund, Karina;
- Tørring, Pernille Mathiesen;
- Bertelsen, Birgitte;
- Sunde, Lone;
- Karstensen, John Gásdal
Publication type:
Article
Two cases of somatic STK11 mosaicism in Danish patients with Peutz–Jeghers syndrome.
Published in:
Familial Cancer, 2021, v. 20, n. 1, p. 55, doi. 10.1007/s10689-020-00191-4
By:
- Jelsig, Anne Marie;
- Bertelsen, Birgitte;
- Forss, Isabel;
- Karstensen, John Gásdal
Publication type:
Article
Dihydropyrimidine dehydrogenase (DPD) genotype and phenotype among Danish cancer patients: prevalence and correlation between DPYD-genotype variants and P-uracil concentrations.
Published in:
2022
By:
- Paulsen, Niels Herluf;
- Qvortrup, Camilla;
- Vojdeman, Fie Juhl;
- Plomgaard, Peter;
- Andersen, Stig Ejdrup;
- Ramlov, Anne;
- Bertelsen, Birgitte;
- Rossing, Maria;
- Nielsen, Claus Gyrup;
- Hoffmann-Lücke, Elke;
- Greibe, Eva;
- Spangsberg Holm, Hanne;
- Nielsen, Heidi Hvid;
- Lolas, Ihab Bishara Yousef;
- Madsen, Jonna Skov;
- Bergmann, Marianne Lerbaek;
- Mørk, Morten;
- Fruekilde, Palle B. Nielsen;
- Bøttger, Pernille;
- Petersen, Peter Clausager
Publication type:
Letter
A Danish national effort of BRCA1/2 variant classification.
Published in:
Acta Oncologica, 2018, v. 57, n. 1, p. 159, doi. 10.1080/0284186X.2017.1400693
By:
- Pedersen, Inge Søkilde;
- Schmidt, Ane Y.;
- Bertelsen, Birgitte;
- Ernst, Anja;
- Toft Andersen, Christian Liebst;
- Kruse, Torben;
- Rossing, Maria;
- Thomassen, Mads
Publication type:
Article
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
Published in:
Human Mutation, 2022, v. 43, n. 1, p. 85, doi. 10.1002/humu.24299
By:
- Sehested, Astrid;
- Meade, Julia;
- Scheie, David;
- Østrup, Olga;
- Bertelsen, Birgitte;
- Misiakou, Maria Anna;
- Sarosiek, Tomasz;
- Kessler, Elena;
- Melchior, Linea C.;
- Munch‐Petersen, Helga Fibiger;
- Pai, Reetesh K.;
- Schmuth, Matthias;
- Gottschling, Hendrik;
- Zschocke, Johannes;
- Gallon, Richard;
- Wimmer, Katharina
Publication type:
Article
Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination.
Published in:
Human Mutation, 2016, v. 37, n. 4, p. 385, doi. 10.1002/humu.22953
By:
- Nazaryan‐Petersen, Lusine;
- Bertelsen, Birgitte;
- Bak, Mads;
- Jønson, Lars;
- Tommerup, Niels;
- Hancks, Dustin C;
- Tümer, Zeynep
Publication type:
Article
Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.
Published in:
Neurogenetics, 2013, v. 14, n. 3/4, p. 197, doi. 10.1007/s10048-013-0372-y
By:
- Bertelsen, Birgitte;
- Debes, Nanette;
- Hjermind, Lena;
- Skov, Liselotte;
- Brøndum-Nielsen, Karen;
- Tümer, Zeynep
Publication type:
Article
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.
Published in:
2015
By:
- Roos, Laura;
- Bertelsen, Birgitte;
- Harris, Pernille;
- Bygum, Anette;
- Jensen, Hanne;
- Grønskov, Karen;
- Tümer, Zeynep
Publication type:
Case Study

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