Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database M Dominguez-Valentin, JR Sampson, TT Seppälä, SW Ten Broeke, ... Genetics in Medicine 22 (1), 15-25, 2020 | 616 | 2020 |
Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4 P Johansson, LG Aoude, K Wadt, WJ Glasson, SK Warrier, AW Hewitt, ... Oncotarget 7 (4), 4624, 2015 | 330 | 2015 |
Melanoma genetics J Read, KAW Wadt, NK Hayward Journal of medical genetics 53 (1), 1-14, 2016 | 322 | 2016 |
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide S Walpole, AL Pritchard, CM Cebulla, R Pilarski, M Stautberg, ... JNCI: Journal of the National Cancer Institute 110 (12), 1328-1341, 2018 | 249 | 2018 |
Interleukin-1β-induced rat pancreatic islet nitric oxide synthesis requires both the p38 and extracellular signal-regulated kinase 1/2 mitogen-activated protein kinases CM Larsen, KAW Wadt, LF Juhl, HU Andersen, AE Karlsen, MSS Su, ... Journal of Biological Chemistry 273 (24), 15294-15300, 1998 | 211 | 1998 |
Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma LG Aoude, AL Pritchard, CD Robles-Espinoza, K Wadt, M Harland, J Choi, ... Journal of the National Cancer Institute 107 (2), dju408, 2015 | 209 | 2015 |
The genetic evolution of metastatic uveal melanoma AH Shain, MM Bagger, R Yu, D Chang, S Liu, S Vemula, JF Weier, ... Nature genetics 51 (7), 1123-1130, 2019 | 208 | 2019 |
Genetics of familial melanoma: 20 years after CDKN2A LG Aoude, KAW Wadt, AL Pritchard, NK Hayward Pigment cell & melanoma research 28 (2), 148-160, 2015 | 202 | 2015 |
A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma K Wadt, J Choi, JY Chung, J Kiilgaard, S Heegaard, KT Drzewiecki, ... Pigment cell & melanoma research 25 (6), 815-818, 2012 | 146 | 2012 |
A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma KAW Wadt, LG Aoude, P Johansson, A Solinas, A Pritchard, O Crainic, ... Clinical genetics 88 (3), 267-272, 2015 | 104 | 2015 |
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes A Byrjalsen, TVO Hansen, UK Stoltze, MM Mehrjouy, NM Barnkob, ... PLoS genetics 16 (12), e1009231, 2020 | 103 | 2020 |
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study AK Win, JG Dowty, JC Reece, G Lee, AS Templeton, JP Plazzer, ... The Lancet Oncology 22 (7), 1014-1022, 2021 | 92 | 2021 |
Germline TERT promoter mutations are rare in familial melanoma M Harland, M Petljak, CD Robles-Espinoza, Z Ding, NA Gruis, ... Familial cancer 15, 139-144, 2016 | 83 | 2016 |
High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer B Bertelsen, IV Tuxen, CW Yde, M Gabrielaite, MH Torp, S Kinalis, ... NPJ genomic medicine 4 (1), 13, 2019 | 70 | 2019 |
POLE mutations in families predisposed to cutaneous melanoma LG Aoude, E Heitzer, P Johansson, M Gartside, K Wadt, AL Pritchard, ... Familial cancer 14, 621-628, 2015 | 68 | 2015 |
A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers LG Aoude, K Wadt, A Bojesen, D Crüger, Å Borg, JM Trent, KM Brown, ... PLoS One 8 (8), e72144, 2013 | 68 | 2013 |
Ciliary neurotrophic factor potentiates the beta-cell inhibitory effect of IL-1beta in rat pancreatic islets associated with increased nitric oxide synthesis and increased … KA Wadt, CM Larsen, HU Andersen, K Nielsen, AE Karlsen, ... Diabetes 47 (10), 1602-1608, 1998 | 68 | 1998 |
von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance MLM Binderup, M Smerdel, L Borgwadt, SSB Nielsen, MG Madsen, ... European Journal of Medical Genetics 65 (8), 104538, 2022 | 59 | 2022 |
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe DH Marmolejo, MYZ Wong, S Bajalica-Lagercrantz, M Tischkowitz, ... European Journal of Medical Genetics 64 (12), 104350, 2021 | 50 | 2021 |
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical … JJ Bakhuizen, H Hanson, K van der Tuin, F Lalloo, M Tischkowitz, K Wadt, ... Familial Cancer 20 (4), 337-348, 2021 | 41 | 2021 |