Toward mechanistic models for genotype–phenotype correlations in phenylketonuria using protein stability calculations
Scheller, Rasmus, Stein, Amelie, Nielsen, Sofie V., Marin, Frederikke I., Gerdes, Anne‐Marie, Marco, Miriam, Papaleo, Elena, Lindorff‐Larsen, Kresten, Hartmann‐Petersen, Rasmus
Published in Human mutation (01.04.2019)
Published in Human mutation (01.04.2019)
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Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)
Wimmer, Katharina, Kratz, Christian P, Vasen, Hans F A, Caron, Olivier, Colas, Chrystelle, Entz-Werle, Natacha, Gerdes, Anne-Marie, Goldberg, Yael, Ilencikova, Denisa, Muleris, Martine, Duval, Alex, Lavoine, Noémie, Ruiz-Ponte, Clara, Slavc, Irene, Burkhardt, Brigit, Brugieres, Laurence
Published in Journal of Medical Genetics (01.06.2014)
Published in Journal of Medical Genetics (01.06.2014)
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Book Review
Pediatric cancer families’ participation in whole‐genome sequencing research in Denmark: Parent perspectives
Byrjalsen, Anna, Stoltze, Ulrik, Wadt, Karin, Hjalgrim, Lisa Lyngsie, Gerdes, Anne‐Marie, Schmiegelow, Kjeld, Wahlberg, Ayo
Published in European journal of cancer care (01.11.2018)
Published in European journal of cancer care (01.11.2018)
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Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients
Tan, Ming, Brusgaard, Klaus, Gerdes, Anne‐Marie, Larsen, Martin Jakob, Mortensen, Michael Bau, Detlefsen, Sönke, Muckadell, Ove B. Schaffalitzky, Joergensen, Maiken Thyregod
Published in Annals of human genetics (01.07.2022)
Published in Annals of human genetics (01.07.2022)
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Whole genome sequencing identifies rare germline variants enriched in cancer related genes in first degree relatives of familial pancreatic cancer patients
Tan, Ming, Brusgaard, Klaus, Gerdes, Anne‐Marie, Mortensen, Michael Bau, Detlefsen, Sönke, Schaffalitzky de Muckadell, Ove B., Joergensen, Maiken Thyregod
Published in Clinical genetics (01.11.2021)
Published in Clinical genetics (01.11.2021)
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A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma
Wadt, Karin, Choi, Jiyeon, Chung, Joon-Yong, Kiilgaard, Jens, Heegaard, Steffen, Drzewiecki, Krzysztof T., Trent, Jeffrey M., Hewitt, Stephen M., Hayward, Nicholas K., Gerdes, Anne-Marie, Brown, Kevin M.
Published in Pigment cell and melanoma research (01.11.2012)
Published in Pigment cell and melanoma research (01.11.2012)
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Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome
Abildgaard, Amanda B, Stein, Amelie, Nielsen, Sofie V, Schultz-Knudsen, Katrine, Papaleo, Elena, Shrikhande, Amruta, Hoffmann, Eva R, Bernstein, Inge, Gerdes, Anne-Marie, Takahashi, Masanobu, Ishioka, Chikashi, Lindorff-Larsen, Kresten, Hartmann-Petersen, Rasmus
Published in eLife (07.11.2019)
Published in eLife (07.11.2019)
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Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness
Andersen, Lars V B, Larsen, Martin J, Davies, Helen, Degasperi, Andrea, Nielsen, Henriette Roed, Jensen, Louise A, Kroeldrup, Lone, Gerdes, Anne-Marie, Lænkholm, Anne-Vibeke, Kruse, Torben A, Nik-Zainal, Serena, Thomassen, Mads
Published in Breast cancer research : BCR (14.06.2023)
Published in Breast cancer research : BCR (14.06.2023)
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Exploring the hereditary background of renal cancer in Denmark
Christensen, Maria Bejerholm, Wadt, Karin, Jensen, Uffe Birk, Lautrup, Charlotte Kvist, Bojesen, Anders, Krogh, Lotte Nylandsted, Overeem Hansen, Thomas van, Gerdes, Anne-Marie
Published in PloS one (29.04.2019)
Published in PloS one (29.04.2019)
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Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1
GOUDIE, David R, D'ALESSANDRO, Mariella, CHRISTIE, Lesley, PICHERT, Gabriella, FRIEDEL, Jean, HAYES, Ian, BURROWS, Nigel, WHITTAKER, Sean, GERDES, Anne-Marie, BROESBY-OLSEN, Sigurd, FERGUSON-SMITH, Malcolm A, VERMA, Chandra, MERRIMAN, Barry, LUNNY, Declan P, REVERSADE, Bruno, BIRGITTE LANE, E, LEE, Hane, SZEVERENYI, Ildikó, AVERY, Stuart, O'CONNOR, Brian D, NELSON, Stanley F, COATS, Stephanie E, STEWART, Arlene
Published in Nature genetics (01.04.2011)
Published in Nature genetics (01.04.2011)
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Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling
Larsen, Martin J, Kruse, Torben A, Tan, Qihua, Lænkholm, Anne-Vibeke, Bak, Martin, Lykkesfeldt, Anne E, Sørensen, Kristina P, Hansen, Thomas V O, Ejlertsen, Bent, Gerdes, Anne-Marie, Thomassen, Mads
Published in PloS one (21.05.2013)
Published in PloS one (21.05.2013)
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A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers
Aoude, Lauren G, Wadt, Karin, Bojesen, Anders, Crüger, Dorthe, Borg, Ake, Trent, Jeffrey M, Brown, Kevin M, Gerdes, Anne-Marie, Jönsson, Göran, Hayward, Nicholas K
Published in PloS one (19.08.2013)
Published in PloS one (19.08.2013)
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The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification
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
Published in Molecular genetics & genomic medicine (01.10.2023)
Published in Molecular genetics & genomic medicine (01.10.2023)
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Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants
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
Published in Genome medicine (14.03.2023)
Published in Genome medicine (14.03.2023)
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Hereditary Breast Cancer: Clinical, Pathological and Molecular Characteristics
Larsen, Martin J., Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A.
Published in Breast Cancer: Basic and Clinical Research (01.01.2014)
Published in Breast Cancer: Basic and Clinical Research (01.01.2014)
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Book Review
Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark
Stoltze, Ulrik, Skytte, Anne-Bine, Roed, Henriette, Hasle, Henrik, Ejlertsen, Bent, Overeem Hansen, Thomas van, Schmiegelow, Kjeld, Gerdes, Anne-Marie, Wadt, Karin
Published in PloS one (11.01.2018)
Published in PloS one (11.01.2018)
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New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients
Djursby, Malene, Madsen, Majbritt B., Frederiksen, Jane H., Berchtold, Lukas A., Therkildsen, Christina, Willemoe, Gro L., Hasselby, Jane P., Wikman, Friedrik, Okkels, Henrik, Skytte, Anne-Bine, Nilbert, Mef, Wadt, Karin, Gerdes, Anne-Marie, van Overeem Hansen, Thomas
Published in Frontiers in genetics (24.09.2020)
Published in Frontiers in genetics (24.09.2020)
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Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre - A National Danish Cohort
Altaraihi, Mays, Hansen, Thomas van Overeem, Santoni-Rugiu, Eric, Rossing, Maria, Rasmussen, Åse Krogh, Gerdes, Anne-Marie, Wadt, Karin
Published in Frontiers in endocrinology (Lausanne) (06.09.2021)
Published in Frontiers in endocrinology (Lausanne) (06.09.2021)
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Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes
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
Published in PLoS genetics (17.12.2020)
Published in PLoS genetics (17.12.2020)
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