Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome FBÜ Basmanav, L Cau, A Tafazzoli, MC Méchin, S Wolf, MT Romano, ... The American Journal of Human Genetics 99 (6), 1292-1304, 2016 | 136 | 2016 |
Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa DJ Ralser, FBÜ Basmanav, A Tafazzoli, J Wititsuwannakul, S Delker, ... The Journal of clinical investigation 127 (4), 1485-1490, 2017 | 89 | 2017 |
LAG3 (LAG-3, CD223) DNA methylation correlates with LAG3 expression by tumor and immune cells, immune cell infiltration, and overall survival in clear cell renal cell carcinoma N Klümper, DJ Ralser, EG Bawden, J Landsberg, R Zarbl, G Kristiansen, ... Journal for immunotherapy of cancer 8 (1), 2020 | 83 | 2020 |
Membranous NECTIN-4 expression frequently decreases during metastatic spread of urothelial carcinoma and is associated with enfortumab vedotin resistance N Klümper, DJ Ralser, J Ellinger, F Roghmann, J Albrecht, E Below, ... Clinical Cancer Research 29 (8), 1496-1505, 2023 | 68 | 2023 |
CTLA4 promoter hypomethylation is a negative prognostic biomarker at initial diagnosis but predicts response and favorable outcome to anti-PD-1 based immunotherapy in clear … N Klümper, DJ Ralser, R Zarbl, K Schlack, AJ Schrader, M Rehlinghaus, ... Journal for Immunotherapy of Cancer 9 (8), 2021 | 30 | 2021 |
Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene V Weitensteiner, R Zhang, J Bungenberg, M Marks, J Gehlen, DJ Ralser, ... Birth defects research 110 (7), 587-597, 2018 | 24 | 2018 |
Altered Notch signaling in Dowling-Degos disease: additional mutations in POGLUT1 and further insights into disease pathogenesis DJ Ralser, H Takeuchi, G Fritz, FB Basmanav, M Effern, S Sivalingam, ... The Journal of investigative dermatology 139 (4), 960, 2019 | 16 | 2019 |
Comprehensive analysis of N6-methyladenosine (m6A) writers, erasers, and readers in cervical cancer M Condic, DJ Ralser, N Klümper, J Ellinger, M Qureischi, EK Egger, ... International Journal of Molecular Sciences 23 (13), 7165, 2022 | 14 | 2022 |
Molecular and immune correlates of PDCD1 (PD-1), PD-L1 (CD274), and PD-L2 (PDCD1LG2) DNA methylation in triple negative breast cancer DJ Ralser, N Klümper, H Gevensleben, R Zarbl, C Kaiser, J Landsberg, ... Journal of immunotherapy 44 (8), 319-324, 2021 | 13 | 2021 |
Integrating on-treatment modified Glasgow prognostic score and imaging to predict response and outcomes in metastatic renal cell carcinoma J Saal, T Bald, M Eckstein, DJ Ralser, M Ritter, P Brossart, V Grünwald, ... JAMA oncology 9 (8), 1048-1055, 2023 | 12 | 2023 |
CDK4/6 Inhibitors in advanced HR+/HER2–breast cancer: A multicenter Real-World Data Analysis C Müller, V Kiver, EF Solomayer, G Wagenpfeil, C Neeb, JU Blohmer, ... Breast Care 18 (1), 31-41, 2023 | 12 | 2023 |
CTLA4, PD-1, PD-L1, PD-L2, TIM-3, TIGIT, and LAG3 DNA methylation is associated with BAP1-aberrancy, transcriptional activity, and overall survival in uveal melanoma L de Vos, TMC Cano, R Zarbl, N Klümper, DJ Ralser, A Franzen, E Herr, ... Journal of Immunotherapy 45 (7), 324-334, 2022 | 12 | 2022 |
Comprehensive immunohistochemical analysis of N6-methyladenosine (m6A) writers, erasers, and readers in endometrial cancer DJ Ralser, M Condic, N Klümper, J Ellinger, C Staerk, EK Egger, ... Journal of Cancer Research and Clinical Oncology 149 (6), 2417-2424, 2023 | 9 | 2023 |
Assessment of the genetic spectrum of uncombable hair syndrome in a cohort of 107 individuals FB Basmanav, N Cesarato, S Kumar, O Borisov, P Kokordelis, DJ Ralser, ... JAMA dermatology 158 (11), 1245-1253, 2022 | 9 | 2022 |
Diagnostic and therapeutic approach in a metastatic vaginal adenocarcinoma: a case report EK Egger, DJ Ralser, K Lindner, F Recker, M Marinova, O Savchenko, ... Frontiers in Immunology 12, 686879, 2021 | 9 | 2021 |
Intra-and Interfamilial Phenotype Variability Associated with Mutations in γ-Secretase Subunit-Encoding PSENEN. J Frank, DJ Ralser, RC Betz The Journal of Investigative Dermatology 138 (5), 1215-1218, 2017 | 7 | 2017 |
Determination of the Cancer Genome Atlas (TCGA) endometrial cancer molecular subtypes using the variant interpretation and clinical decision support software MH guide A Mustea, DJ Ralser, E Egger, U Ziehm, S Vivas, S Brock, D Jackson, ... Cancers 15 (7), 2053, 2023 | 4 | 2023 |
Identification of a founder mutation in KRT14 associated with Naegeli–Franceschetti–Jadassohn syndrome DJ Ralser, S Kumar, O Borisov, O Sarig, G Richard, S Wolf, PM Krawitz, ... British Journal of Dermatology 183 (4), 756-757, 2020 | 4 | 2020 |
Obstetric and neonatal outcome of pregnancy in Carney complex: A case report DJ Ralser, B Strizek, P Kupczyk, B Stoffel-Wagner, J Altengarten, A Müller, ... Frontiers in Endocrinology 11, 296, 2020 | 4 | 2020 |
Mast cell activation in Dowling–Degos disease J Knuever, OD Persa, A Illerhaus, DJ Ralser, K Hartmann, RC Betz, ... British Journal of Dermatology 181 (6), 1312-1314, 2019 | 4 | 2019 |