| Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology. | Kerle IA, Gross T, Kögler A, Arnold JS, Werner M, Eckardt JN, Möhrmann EE, Arlt M, Hutter B, Hüllein J, Richter D, Schneider MMK, Hlevnjak M, Möhrmann L, Hanf D, Heilig CE, Kreutzfeldt S, Teleanu MV, Schröck E, Hübschmann D, Horak P, Heining C, Fröhling S, Glimm H | 2025-01-10 | | NPJ precision oncology |
| ZBTB48 is a priming factor regulating B-cell-specific CIITA expression. | Rane G, Kuan VLS, Wang S, Mok MMH, Khanchandani V, Hansen J, Norvaisaite I, Zulkaflee N, Yong WK, Jahn A, Mukundan VT, Shi Y, Osato M, Li F, Kappei D | 2024-11-19 | B Cell, CIITA, Epigenetics, Gene Expression, MHC II | The EMBO journal |
| Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1. | Lubbers K, Hiralal KR, Dieleman GC, Hagenaar DA, Dierckx B, Legerstee JS, de Nijs PFA, Rietman AB, Oostenbrink R, Bindels-de Heus KGCB, de Wit MY, Hillegers MHJ, Ten Hoopen LW, Mous SE | 2024-10-12 | Angelman syndrome, Autism spectrum disorder, Fragile X syndrome, Latent profile analysis, Neurofibromatosis type 1, Tuberous sclerosis complex | Journal of autism and developmental disorders |
| Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS. | Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, Hansen TVO, Pineda M, Ritter D, de Dunnen J, Hassanin E, Lin WL, Borras E, Krahn K, Nordling M, Martins A, Mahmood K, Nadeau E, Beshay V, Tops C, Genuardi M, Pesaran T, Frayling IM, Capellá G, Latchford A, Tavtigian SV, Maj C, Plon SE, Greenblatt MS, Macrae FA, Spier I, Aretz S | 2024-09-26 | ACMG/AMP variant classification guidelines, APC, Adenomatous polyposis coli, ClinGen, FAP, InSiGHT, familial adenomatous polyposis | American journal of human genetics |
| Benchmarking whole exome sequencing in the German network for personalized medicine. | Menzel M, Martis-Thiele M, Goldschmid H, Ott A, Romanovsky E, Siemanowski-Hrach J, Seillier L, Brüchle NO, Maurer A, Lehmann KV, Begemann M, Elbracht M, Meyer R, Dintner S, Claus R, Meier-Kolthoff JP, Blanc E, Möbs M, Joosten M, Benary M, Basitta P, Hölscher F, Tischler V, Groß T, Kutz O, Prause R, William D, Horny K, Goering W, Sivalingam S, Borkhardt A, Blank C, Junk SV, Yasin L, Moskalev EA, Carta MG, Ferrazzi F, Tögel L, Wolter S, Adam E, Matysiak U, Rosenthal T, Dönitz J, Lehmann U, Schmidt G, Bartels S, Hofmann W, Hirsch S, Dikow N, Göbel K, Banan R, Hamelmann S, Fink A, Ball M, Neumann O, Rehker J, Kloth M, Murtagh J, Hartmann N, Jurmeister P, Mock A, Kumbrink J, Jung A, Mayr EM, Jacob A, Trautmann M, Kirmse S, Falkenberg K, Ruckert C, Hirsch D, Immel A, Dietmaier W, Haack T, Marienfeld R, Fürstberger A, Niewöhner J, Gerstenmaier U, Eberhardt T, Greif PA, Appenzeller S, Maurus K, Doll J, Jelting Y, Jonigk D, Märkl B, Beule D, Horst D, Wulf AL, Aust D, Werner M, Reuter-Jessen K, Ströbel P, Auber B, Sahm F, Merkelbach-Bruse S, Siebolts U, Roth W, Lassmann S, Klauschen F, Gaisa NT, Weichert W, Evert M, Armeanu-Ebinger S, Ossowski S, Schroeder C, Schaaf CP, Malek N, Schirmacher P, Kazdal D, Pfarr N, Budczies J, Stenzinger A | 2024-09-08 | Clinical exome, Molecular pathology, Multi-centric inter-laboratory test, Precision oncology, Whole exome sequencing | European journal of cancer (Oxford, England : 1990) |
| Telomere biology disorders: from dyskeratosis congenita and beyond. | Roka K, Solomou E, Kattamis A, Stiakaki E | 2024-08-29 | dyskeratosis congenita, hematological manifestations, idiopathic pulmonary fibrosis, liver cirrhosis, telomere biology disorders, telomere syndromes | Postgraduate medical journal |
| Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis: A potential model for rare diseases. | Dhaenens BAE, Heimann G, Bakker A, Nievo M, Ferner RE, Evans DG, Wolkenstein P, Leubner J, Potratz C, Carton C, Iloeje U, Kirk G, Blakeley JO, Plotkin S, Fisher MJ, Kim A, Driever PH, Azizi AA, Widemann BC, Gross A, Parke T, Legius E, Oostenbrink R | 2024-08-01 | clinical trial, neurofibromatosis, platform trial, rare diseases, schwannomatosis | Neuro-oncology practice |
| Identification of Succinate Dehydrogenase Gene Variant Carriers by Blood Biomarkers. | Gebhardt M, Kunath C, Fröbel D, Funk AM, Peitzsch M, Nölting S, Deutschbein T, Januszewicz A, Timmers HJLM, Robledo M, Jahn A, Constantinescu G, Eisenhofer G, Pamporaki C, Richter S | 2024-07-26 | PBMC, blood plasma, erythrocytes, metabolism, succinate dehydrogenase gene variants, urine | Journal of the Endocrine Society |
| An artificial intelligence-assisted system versus white light endoscopy alone for adenoma detection in individuals with Lynch syndrome (TIMELY): an international, multicentre, randomised controlled trial. | Ortiz O, Daca-Alvarez M, Rivero-Sanchez L, Gimeno-Garcia AZ, Carrillo-Palau M, Alvarez V, Ledo-Rodriguez A, Ricciardiello L, Pierantoni C, Hüneburg R, Nattermann J, Bisschops R, Tejpar S, Huerta A, Riu Pons F, Alvarez-Urturi C, López-Vicente J, Repici A, Hassan C, Cid L, Cavestro GM, Romero-Mascarell C, Gordillo J, Puig I, Herraiz M, Betes M, Herrero J, Jover R, Balaguer F, Pellisé M | 2024-07-18 | | The lancet. Gastroenterology & hepatology |
| Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci. | Baumann A, Ruckert C, Meier C, Hutschenreiter T, Remy R, Schnur B, Döbel M, Fankep RCN, Skowronek D, Kutz O, Arnold N, Katzke AL, Forster M, Kobiela AL, Thiedig K, Zimmer A, Ritter J, Weber BHF, Honisch E, Hackmann K, Schmidt G, Sturm M, Ernst C | 2024-06-21 | | European journal of human genetics : EJHG |
| [Lynch syndrome]. | Steinke-Lange V, Holinski-Feder E | 2024-06-12 | DNA mismatch repair, Genomic instability, Hereditary nonpolyposis colorectal cancer, Hereditary tumor predisposition, Microsatellite instability | Pathologie (Heidelberg, Germany) |
| Histopathological phenotyping of cancers in PTEN Hamartoma Tumor Syndrome for improved recognition: A single-center study. | Schei-Andersen AJ, Hendricks LAJ, van der Post RS, Mensenkamp AR, Schieving J, Schuurs-Hoeijmakers JHM, Hoogerbrugge N, Vos JR | 2024-06-11 | Cowden syndrome, PTEN, hereditary cancer, histopathology, human genetics | International journal of cancer |
| Quality of life in individuals with neurofibromatosis type 1 associated cutaneous neurofibromas: validation of the Dutch cNF-Skindex. | Dhaenens BAE, van Dijk SA, Fertitta L, Taal W, Wolkenstein P, Oostenbrink R | 2024-05-29 | Cutaneous neurofibroma, Neurofibromatosis type 1, Patient-reported outcome measure, QoL, Quality of life, cNF-Skindex | Journal of patient-reported outcomes |
| Identification of novel snoRNA-based biomarkers for clear cell renal cell carcinoma from urine-derived extracellular vesicles. | Grützmann K, Salomo K, Krüger A, Lohse-Fischer A, Erdmann K, Seifert M, Baretton G, Aust D, William D, Schröck E, Thomas C, Füssel S | 2024-05-13 | Biomarker, Cancer diagnostics, Clear cell renal cell carcinoma, Exosomes, Extracellular vesicles, Kidney cancer, Liquid biopsy, Transcriptional biomarker, Urine, snoRNA | Biology direct |
| Exceptional Response of BRAFV600E-Mutated Acinar Cell CUP to BRAF/MEK Inhibition. | Kerle IA, Scheuble AM, Kobitzsch B, Stocker G, Hiller GGR, Badendick M, William D, Krueger A, Gross T, Koegler A, Hartig A, Richter D, Aust DE, Schroeck E, Heining C, Glimm H, Hacker UT | 2024-05-01 | | JCO precision oncology |
| Exploring evolutionary trajectories in ovarian cancer patients by longitudinal analysis of ctDNA. | Kutz O, Drukewitz S, Krüger A, Aust D, William D, Oster S, Schröck E, Baretton G, Link T, Wimberger P, Kuhlmann JD | 2024-04-05 | ctDNA, liquid biopsy, ovarian cancer, tumor evolution | Clinical chemistry and laboratory medicine |
| The PlexiQoL, a patient-reported outcome measure on quality of life in neurofibromatosis type 1-associated plexiform neurofibroma: translation, cultural adaptation and validation into the Dutch language for the Netherlands. | Dhaenens BAE, van Dijk SA, Taal W, Noordhoek DC, Coffey A, McKenna SP, Oostenbrink R | 2024-03-18 | Neurofibromatosis type 1, PRO, Patient-reported outcome measure, Plexiform neurofibroma, QoL, Quality of life | Journal of patient-reported outcomes |
| Author Correction: Proteogenomic analysis reveals RNA as a source for tumor-agnostic neoantigen identification. | Tretter C, de Andrade Krätzig N, Pecoraro M, Lange S, Seifert P, von Frankenberg C, Untch J, Zuleger G, Wilhelm M, Zolg DP, Dreyer FS, Bräunlein E, Engleitner T, Uhrig S, Boxberg M, Steiger K, Slotta-Huspenina J, Ochsenreither S, von Bubnoff N, Bauer S, Boerries M, Jost PJ, Schenck K, Dresing I, Bassermann F, Friess H, Reim D, Grützmann K, Pfütze K, Klink B, Schröck E, Haller B, Kuster B, Mann M, Weichert W, Fröhling S, Rad R, Hiltensperger M, Krackhardt AM | 2024-03-15 | | Nature communications |
| The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2. | Hinić S, Cybulski C, Van der Post RS, Vos JR, Schuurs-Hoeijmakers J, Brugnoletti F, Koene S, Vreede L, van Zelst-Stams WAG, Kets CM, Haadsma M, Spruijt L, Wevers MR, Evans DG, Wimmer K, Schnaiter S, Volk AE, Möllring A, de Putter R, Soikkonen L, Kahre T, Tooming M, de Jong MM, Vaz F, Mensenkamp AR, Genuardi M, Lubinski J, Ligtenberg M, Hoogerbrugge N, de Voer RM | 2024-02-13 | Breast cancer, CHEK2, Genetic tumor risk syndrome, Multiple primary malignancies | Genetics in medicine : official journal of the American College of Medical Genetics |
| Recommendations for the collection and annotation of biosamples for analysis of biomarkers in neurofibromatosis and schwannomatosis clinical trials. | Sundby RT, Rhodes SD, Komlodi-Pasztor E, Sarnoff H, Grasso V, Upadhyaya M, Kim A, Evans DG, Blakeley JO, Hanemann CO, Bettegowda C | 2024-02-01 | Biomarker, cell-free DNA, consensus guidelines, cytokines, liquid biopsy, neurofibromatosis, open science, schwannomatosis | Clinical trials (London, England) |
| Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel. | Spier I, Yin X, Richardson M, Pineda M, Laner A, Ritter D, Boyle J, Mur P, Hansen TVO, Shi X, Mahmood K, Plazzer JP, Ognedal E, Nordling M, Farrington SM, Yamamoto G, Baert-Desurmont S, Martins A, Borras E, Tops C, Webb E, Beshay V, Genuardi M, Pesaran T, Capellá G, Tavtigian SV, Latchford A, Frayling IM, Plon SE, Greenblatt M, Macrae FA, Aretz S | 2024-02-01 | ACMG/AMP variant classification guidelines, Adenomatous polyposis coli (APC), ClinGen, Familial adenomatous polyposis (FAP), InSiGHT | Genetics in medicine : official journal of the American College of Medical Genetics |
| High amount of fertility reducing tumors and procedures, but no evidence for premature ovarian failure in female Lynch syndrome patients. | Biermann S, Knapp M, Wieacker P, Aretz S, Steinke-Lange V | 2024-01-27 | Cancer predisposition, Hereditary CRC, Lynch syndrome, Menopause, Mismatch-repair genes | Familial cancer |
| Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome. | Dueñas N, Klinkhammer H, Bonifaci N, Spier I, Mayr A, Hassanin E, Diez-Villanueva A, Moreno V, Pineda M, Maj C, Capellà G, Aretz S, Brunet J | 2023-11-01 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Neoplasms, Early Diagnosis, Genetic Association Studies, Genetic Counseling | Journal of medical genetics |
| Signaling-induced systematic repression of miRNAs uncovers cancer vulnerabilities and targeted therapy sensitivity. | Wurm AA, Brilloff S, Kolovich S, Schäfer S, Rahimian E, Kufrin V, Bill M, Carrero ZI, Drukewitz S, Krüger A, Hüther M, Uhrig S, Oster S, Westphal D, Meier F, Pfütze K, Hübschmann D, Horak P, Kreutzfeldt S, Richter D, Schröck E, Baretton G, Heining C, Möhrmann L, Fröhling S, Ball CR, Glimm H | 2023-10-17 | cancer driver, drug response, miRNA signatures, organoids, precision oncology, spheroids, target prediction | Cell reports. Medicine |
| Proteogenomic analysis reveals RNA as a source for tumor-agnostic neoantigen identification. | Tretter C, de Andrade Krätzig N, Pecoraro M, Lange S, Seifert P, von Frankenberg C, Untch J, Zuleger G, Wilhelm M, Zolg DP, Dreyer FS, Bräunlein E, Engleitner T, Uhrig S, Boxberg M, Steiger K, Slotta-Huspenina J, Ochsenreither S, von Bubnoff N, Bauer S, Boerries M, Jost PJ, Schenck K, Dresing I, Bassermann F, Friess H, Reim D, Grützmann K, Pfütze K, Klink B, Schröck E, Haller B, Kuster B, Mann M, Weichert W, Fröhling S, Rad R, Hiltensperger M, Krackhardt AM | 2023-08-02 | | Nature communications |
| Optimizing expert and patient input in pediatric trial design: Lessons learned and recommendations from a collaboration between conect4children and European Patient-CEntric ClinicAl TRial PLatforms. | Dhaenens BAE, Mahler F, Batchelor H, Dicks P, Gaillard S, Nafria B, Kopp-Schneider A, Ribeiro MA, Schwab M, Sparber-Sauer M, Leubner J, de Wildt SN, Oostenbrink R | 2023-08-01 | | Clinical and translational science |
| Evidence that platelets from transfusion-dependent β-thalassemia patients induce T cell activation. | Solomou EE, Delaporta P, Mantzou A, Tzannoudaki M, Diamantopoulos P, Salamaliki C, Kontandreopoulou CN, Vyniou NA, Perganti F, Papassotiriou I, Kattamis A | 2023-08-01 | Platelets, T cells, Thalassemia | Clinical immunology (Orlando, Fla.) |
| A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children. | Friedrich UA, Bienias M, Zinke C, Prazenicova M, Lohse J, Jahn A, Menzel M, Langanke J, Walter C, Wagener R, Brozou T, Varghese J, Dugas M, Erlacher M, Schröck E, Suttorp M, Borkhardt A, Hauer J, Auer F | 2023-08-01 | Clinical checklists, Genetic testing, Germline cancer predisposition, Pediatric cancer, Trio sequencing | Genetics in medicine : official journal of the American College of Medical Genetics |
| Health-related quality of life of children with neurofibromatosis type 1: Analysis of proxy-rated PedsQL and CHQ questionnaires. | Dhaenens BAE, Rietman A, Husson O, Oostenbrink R | 2023-07-01 | CHQ, Children, Health-related quality of life, Neurofibromatosis type 1, PedsQL, Quality of life | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society |
| Targeted therapy of advanced parathyroid carcinoma guided by genomic and transcriptomic profiling. | Teleanu MV, Fuss CT, Paramasivam N, Pirmann S, Mock A, Terkamp C, Kircher S, Landwehr LS, Lenschow C, Schlegel N, Stenzinger A, Jahn A, Fassnacht M, Glimm H, Hübschmann D, Fröhling S, Kroiss M | 2023-07-01 | RNA sequencing, immune checkpoint inhibition, mutational signature, tumour mutational burden, tyrosine kinase inhibition, whole-genome sequencing | Molecular oncology |
| A Novel Variant in the TP53 Gene Causing Li-Fraumeni Syndrome. | Papadimitriou DT, Stratakis CA, Kattamis A, Glentis S, Dimitrakakis C, Spyridis GP, Christopoulos P, Mastorakos G, Vlahos NF, Iacovidou N | 2023-06-30 | Li–Fraumeni syndrome, TP53 gene, adrenocortical tumor, breast cancer, cervical cancer, osteosarcoma | Children (Basel, Switzerland) |
| Wnt genes in colonic polyposis predisposition. | Quintana I, Terradas M, Mur P, Te Paske IBAW, Peters S, Spier I, Steinke-Lange V, Maestro C, Torrents D, Puiggròs M, Royo R, Tonda R, Parra G, Piscia D, Beltrán S, Navarro M, Piñol V, Brunet J, Gonzalez-Abuin N, Aiza G, Sommer A, van Herwaarden Y, Astuti G, Holinski-Feder E, Hoogerbrugge N, de Voer RM, Aretz S, Capellá G, Valle L | 2023-05-01 | | Genes & diseases |
| Ischemic stroke in a pediatric patient with very rare coexistence of sickle-cell/β-thalassemia and neurofibromatosis type 1. | Roka K, Solomou E, Glentis S, Gavra M, Kokkinou E, Rigatou E, Pons R, Kattamis A | 2023-04-14 | | Pediatric blood & cancer |
| The PTEN hamartoma tumor syndrome: how oral clinicians may save lives. | Fardal Ø, Nevland K, Johannessen AC, Vetti HH | 2023-03-01 | Fissured tongue, PTEN hamartoma tumor syndrome, gingival overgrowth, macrocephaly, periodontal diseases, rare disease | Clinical advances in periodontics |
| Telomere biology: from disorders to hematological diseases. | Roka K, Solomou EE, Kattamis A | 2023-01-01 | adult, hematological malignancies, pediatric, telomere biology disorders, telomeres | Frontiers in oncology |
| Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes. | Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novaković S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C | 2023-01-01 | | The Lancet. Oncology |
| Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers. | Jahn A, Rump A, Widmann TJ, Heining C, Horak P, Hutter B, Paramasivam N, Uhrig S, Gieldon L, Drukewitz S, Kübler A, Bermudez M, Hackmann K, Porrmann J, Wagner J, Arlt M, Franke M, Fischer J, Kowalzyk Z, William D, Weth V, Oster S, Fröhlich M, Hüllein J, Valle González C, Kreutzfeldt S, Mock A, Heilig CE, Lipka DB, Möhrmann L, Hanf D, Oleś M, Teleanu V, Allgäuer M, Ruhnke L, Kutz O, Knurr A, Laßmann A, Endris V, Neumann O, Penzel R, Beck K, Richter D, Winter U, Wolf S, Pfütze K, Geörg C, Meißburger B, Buchhalter I, Augustin M, Aulitzky WE, Hohenberger P, Kroiss M, Schirmacher P, Schlenk RF, Keilholz U, Klauschen F, Folprecht G, Bauer S, Siveke JT, Brandts CH, Kindler T, Boerries M, Illert AL, von Bubnoff N, Jost PJ, Metzeler KH, Bitzer M, Schulze-Osthoff K, von Kalle C, Brors B, Stenzinger A, Weichert W, Hübschmann D, Fröhling S, Glimm H, Schröck E, Klink B | 2022-11-01 | biomarker, hereditary cancer, precision medicine, prevention, rare cancer, targeted therapy | Annals of oncology : official journal of the European Society for Medical Oncology |
| Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms. | Pape K, Lößner AJ, William D, Czempiel T, Beyreuther E, Klimova A, Lehmann C, Schmäche T, Merker SR, Naumann M, Ada AM, Baenke F, Seidlitz T, Bütof R, Dietrich A, Krause M, Weitz J, Klink B, von Neubeck C, Stange DE | 2022-10-11 | 3D cell culture, ATM, DNA damage response, chemoradiotherapy, colorectal cancer, patient-derived organoid, proton radiation, translational radio-oncology | Cancers |
| Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation. | Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K, Huson SM, Wolkenstein P, Evans DG | 2022-09-01 | NF2, Neurofibromatosis, SMARCB1, Schwannomatosis, lztr1 | Genetics in medicine : official journal of the American College of Medical Genetics |
| The miR-183/96/182 cluster is upregulated in glioblastoma carrying EGFR amplification. | Schneider B, William D, Lamp N, Zimpfer A, Henker C, Classen CF, Erbersdobler A | 2022-09-01 | EGFR amplification, FOXO1 expression, Glioblastoma, miR-183/96/182 cluster, microRNA deregulation | Molecular and cellular biochemistry |
| Combined Systemic Drug Treatment with Proton Therapy: Investigations on Patient-Derived Organoids. | Naumann M, Czempiel T, Lößner AJ, Pape K, Beyreuther E, Löck S, Drukewitz S, Hennig A, von Neubeck C, Klink B, Krause M, William D, Stange DE, Bütof R, Dietrich A | 2022-08-03 | 3D cell culture, PDAC, pancreatic cancer, patient-derived organoid, proton irradiation, radiochemotherapy, translational radiooncology | Cancers |
| The yield and effectiveness of breast cancer surveillance in women with PTEN Hamartoma Tumor Syndrome. | Hoxhaj A, Drissen MMCM, Vos JR, Bult P, Mann RM, Hoogerbrugge N | 2022-08-01 | PTEN Hamartoma Tumor Syndrome, PTEN gene variants, breast cancer, breast cancer early diagnosis, breast cancer surveillance in high‐risk women | Cancer |
| Validation and clinical application of transactivation assays for RUNX1 variant classification. | Decker M, Agarwal A, Benneche A, Churpek J, Duployez N, Duvall A, Ernst MPT, Förster A, Høberg-Vetti H, Hofmann I, Nash M, Raaijmakers MHGP, Tvedt THA, Vlachos A, Schlegelberger B, Illig T, Ripperger T | 2022-06-14 | | Blood advances |
| Different Effects of RNAi-Mediated Downregulation or Chemical Inhibition of NAMPT in an Isogenic IDH Mutant and Wild-Type Glioma Cell Model. | Clausing M, William D, Preussler M, Biedermann J, Grützmann K, Richter S, Buchholz F, Temme A, Schröck E, Klink B | 2022-05-21 | IDH1 mutation, NAD+ synthesis, glioma, nicotinamide phosphoribosyltransferase, redox household | International journal of molecular sciences |
| Targeted Quantification of Carbon Metabolites Identifies Metabolic Progression Markers and an Undiagnosed Case of SDH-Deficient Clear Cell Renal Cell Carcinoma in a German Cohort. | William D, Erdmann K, Ottemöller J, Mangelis A, Conrad C, Peitzsch M, Schröck E, Eisenhofer G, Zacharis A, Füssel S, Aust D, Klink B, Richter S | 2021-11-09 | Krebs cycle, metabolic profiling, renal cell carcinoma, subtypes, succinate dehydrogenase mutations, survival analysis | Metabolites |
| Lessons learned from drug trials in neurofibromatosis: A systematic review. | Dhaenens BAE, Ferner RE, Evans DG, Heimann G, Potratz C, van de Ketterij E, Kaindl AM, Hissink G, Carton C, Bakker A, Nievo M, Legius E, Oostenbrink R | 2021-09-01 | Neurofibromatosis, Neurofibromatosis type 1, Neurofibromatosis type 2, Schwannomatosis, Systematic review | European journal of medical genetics |
| Ultrasound guided needle biopsy of axilla to evaluate nodal metastasis after preoperative systemic therapy in cohort of 106 breast cancers enriched with BRCA1/2 pathogenic variant carriers. | Līcīte B, Irmejs A, Maksimenko J, Loža P, Trofimovičs G, Miklaševičs E, Nazarovs J, Romanovska M, Deičmane J, Irmejs R, Purkalne G, Gardovskis J | 2021-07-07 | Breast cancer neoadjuvant axilla cytology BRCA1/2 | Hereditary cancer in clinical practice |
| European Reference Networks: challenges and opportunities. | Tumiene B, Graessner H, Mathijssen IM, Pereira AM, Schaefer F, Scarpa M, Blay JY, Dollfus H, Hoogerbrugge N | 2021-04-01 | | Journal of community genetics |
| Challenges in Treating Genodermatoses: New Therapies at the Horizon. | Morren MA, Legius E, Giuliano F, Hadj-Rabia S, Hohl D, Bodemer C | 2021-01-01 | cell therapy, genetic engeneering, genodermatoses, personalised medicine, reoriented drugs, unmet medical needs | Frontiers in pharmacology |
| Response to Cabozantinib Following Acquired Entrectinib Resistance in a Patient With ETV6-NTRK3 Fusion-Positive Carcinoma Harboring the NTRK3 G623R Solvent-Front Mutation. | Hanf D, Heining C, Laaber K, Nebelung H, Uhrig S, Hutter B, Jahn A, Richter D, Aust D, Herbst F, Fröhling S, Glimm H, Folprecht G | 2021-01-01 | | JCO precision oncology |
| Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions. | Büki G, Zsigmond A, Czakó M, Szalai R, Antal G, Farkas V, Fekete G, Nagy D, Széll M, Tihanyi M, Melegh B, Hadzsiev K, Bene J | 2021-01-01 | 17q11.2 deletion syndrome, NF1 gene, array-CGH, atypical NF1 microdeletion, copy number variation, multiplex ligation-probe dependent amplification, type-1 NF1 microdeletion, type-2 NF1 microdeletion | Frontiers in genetics |
| Molecular Characterization of Astrocytoma Progression Towards Secondary Glioblastomas Utilizing Patient-Matched Tumor Pairs. | Seifert M, Schackert G, Temme A, Schröck E, Deutsch A, Klink B | 2020-06-26 | astrocytomas, cancer genomics, patient-matched astrocytoma pairs, secondary glioblastoma, stage-wise astrocytoma development | Cancers |
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