N. Pfarr

发表

Mutational Diversity and Therapy Response in Breast Cancer: A Sequencing Analysis in the Neoadjuvant GeparSepto Trial

P. Fasching, A. Schneeweiss, W. Weichert, 2018, Clinical Cancer Research.

Mutational profiles in triple-negative breast cancer defined by ultradeep multigene sequencing show high rates of PI3K pathway alterations and clinically relevant entity subgroup specific differences

Carsten Denkert, Jan Budczies, Nicole Pfarr, 2014, Oncotarget.

Increased intraepithelial CD3+ T-lymphocytes and high PD-L1 expression on tumor cells are associated with a favorable prognosis in esophageal squamous cell carcinoma and allow prognostic immunogenic subgrouping

R. Langer, W. Weichert, J. Slotta-Huspenina, 2017, Oncotarget.

Harmonization and Standardization of Panel-Based Tumor Mutational Burden (TMB) Measurement: Real-World Results and Recommendations of the QuIP Study.

S. Fröhling, M. Tiemann, W. Weichert, 2020, Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer.

Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.

A. Turk, P. Kopp, G. Borck, 2006, The Journal of clinical endocrinology and metabolism.

Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.

G. Borck, A. Keilmann, N. Pfarr, 2004, The Journal of clinical endocrinology and metabolism.

Quantifying potential confounders of panel-based tumor mutational burden (TMB) measurement.

S. Fröhling, W. Weichert, P. Schirmacher, 2020, Lung cancer.

Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations

W. Seeger, C. Fischer, F. Reichenberger, 2011, Respiratory research.

Distinctive Spatiotemporal Stability of Somatic Mutations in Metastasized Microsatellite-stable Colorectal Cancer

M. Kloor, A. Warth, W. Weichert, 2015, The American journal of surgical pathology.

Pan-cancer analysis of genomic scar patterns caused by homologous repair deficiency (HRD)

S. Fröhling, D. Kazdal, J. Budczies, 2022, npj Precision Oncology.

Subclonal evolution of pulmonary adenocarcinomas delineated by spatially distributed somatic mitochondrial mutations.

M. Kriegsmann, R. Longuespée, A. Warth, 2018, Lung cancer.

Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.

J. Parma, G. Vassart, S. Biesterfeld, 2008, The Journal of clinical endocrinology and metabolism.

Congenital Deafness and Goiter: Pendred Syndrome

G. Borck, A. Keilmann, W. Müller-Forell, 2006 .

Congenital primary hypothyroidism with subsequent adenomatous goiter in a Turkish patient caused by a homozygous 10‐bp deletion in the thyroid peroxidase (TPO) gene

T. Musholt, R. Brzezińska, N. Pfarr, 2006, Clinical endocrinology.

Tubular, lactating, and ductal adenomas are devoid of MED12 Exon2 mutations, and ductal adenomas show recurrent mutations in GNAS and the PI3K–AKT pathway

W. Weichert, P. Schirmacher, A. Stenzinger, 2017, Genes, chromosomes & cancer.

Distribution of MED12 mutations in fibroadenomas and phyllodes tumors of the breast—implications for tumor biology and pathological diagnosis

M. Kriegsmann, W. Weichert, A. Stenzinger, 2015, Genes, chromosomes & cancer.

Loss of SATB2 Occurs More Frequently Than CDX2 Loss in Colorectal Carcinoma and Identifies Particularly Aggressive Cancers in High-Risk Subgroups

W. Weichert, C. Denkert, P. Jank, 2021, Cancers.

Loss of CDX2 in colorectal cancer is associated with histopathologic subtypes and microsatellite instability but is prognostically inferior to hematoxylin–eosin-based morphologic parameters from the WHO classification

W. Weichert, K. Halfter, S. Foersch, 2021, British Journal of Cancer.

The limits of molecular signatures for pancreatic ductal adenocarcinoma subtyping

W. Weichert, J. Baumbach, T. Kacprowski, 2022, bioRxiv.

Molecular driver alterations and their clinical relevance in cancer of unknown primary site

M. Kriegsmann, W. Weichert, A. Stenzinger, 2016, Oncotarget.

Testing NTRK testing: Wet‐lab and in silico comparison of RNA‐based targeted sequencing assays

W. Weichert, P. Schirmacher, A. Stenzinger, 2020, Genes, chromosomes & cancer.

Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation

O. Fuchs, H. Schmidt, N. Pfarr, 2009, Developmental medicine and child neurology.

Defizienz der homologen Rekombinationsreparatur als prädiktiver Marker

S. Merkelbach-Bruse, N. Pfarr, 2021, Der Pathologe.

PICCA study: panitumumab in combination with cisplatin/gemcitabine chemotherapy in KRAS wild-type patients with biliary cancer-a randomised biomarker-driven clinical phase II AIO study.

W. Weichert, S. Kubicka, B. Goeppert, 2018, European journal of cancer.

Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children

H. Dörr, D. Prawitt, N. Pfarr, 2009, Acta paediatrica.

Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene

A. Herbst, S. Kaspers, N. Pfarr, 2006, Clinical endocrinology.

Methylation subgroup and molecular heterogeneity is a hallmark of glioblastoma: implications for biopsy targeting, classification and therapy

Bjoern H Menze, H. S. Meyer, B. Menze, 2022, ESMO open.

NTRK testing: First results of the QuiP‐EQA scheme and a comprehensive map of NTRK fusion variants and their diagnostic coverage by targeted RNA‐based NGS assays

W. Weichert, P. Schirmacher, A. Stenzinger, 2020, Genes, chromosomes & cancer.

This information is current as Enhancer Mutation Linking C 5 Deficiency to an Exonic Splicing

C. Burge, W. Fairbrother, D. Prawitt, 2005 .

NUT carcinoma of the thorax: Case report and review of the literature.

A. Warth, H. Dienemann, W. Weichert, 2015, Lung cancer.

Subclinical hyperthyroidism due to a thyrotropin receptor (TSHR) gene mutation (S505R)

V. Hesse, N. Pfarr, J. Pohlenz, 2006, Acta paediatrica.

Immunohistochemically Characterized Intratumoral Heterogeneity Is a Prognostic Marker in Human Glioblastoma

C. Zimmer, B. Meyer, J. Schlegel, 2020, Cancers.

Somatostatin receptor expression related to TP53 and RB1 alterations in pancreatic and extrapancreatic neuroendocrine neoplasms with a Ki67-index above 20%

W. Weichert, G. Zamboni, B. Sipos, 2017, Modern Pathology.

Proficiency testing of PIK3CA mutations in HR+/HER2-breast cancer on liquid biopsy and tissue

W. Weichert, M. Dietel, R. Stöhr, 2022, Virchows Archiv.

Genetic heterogeneity in synchronous colorectal cancers impacts genotyping approaches and therapeutic strategies

Nicole Pfarr, Volker Endris, Wilko Weichert, 2016, Genes, chromosomes & cancer.

Bridging the Species Gap: Morphological and Molecular Comparison of Feline and Human Intestinal Carcinomas

W. Weichert, D. Denk, K. Matiasek, 2021, Cancers.

XIAP restrains TNF-driven intestinal inflammation and dysbiosis by promoting innate immune responses of Paneth and dendritic cells

P. Vandenabeele, R. Rad, G. Berx, 2021, Science Immunology.

Targeted next‐generation sequencing enables reliable detection of HER2 (ERBB2) status in breast cancer and provides ancillary information of clinical relevance

Jan Budczies, Nicole Pfarr, Volker Endris, 2017, Genes, chromosomes & cancer.

Influence of the HER receptor ligand system on sensitivity to cetuximab and trastuzumab in gastric cancer cell lines

W. Weichert, S. Keller, B. Luber, 2016, Journal of Cancer Research and Clinical Oncology.

PALLD mutation in a European family conveys a stromal predisposition for familial pancreatic cancer

R. Braren, H. Friess, W. Weichert, 2021, Zeitschrift für Gastroenterologie.

Validation of a targeted next-generation sequencing panel for tumor mutation burden analysis: results from the Onconetwork Immuno-Oncology Consortium.

R. Gottimukkala, A. Stenzinger, J. L. Costa, 2021, The Journal of molecular diagnostics : JMD.

Evaluation of a hybrid capture-based pan-cancer panel for analysis of treatment stratifying oncogenic aberrations and processes.

A. Stenzinger, M. Ligtenberg, F. Haller, 2020, The Journal of molecular diagnostics : JMD.

Variant classification in precision oncology

Melanie Boerries, Olaf Neumann, Michael Thomas, 2019, International journal of cancer.

Pan‐cancer analysis of copy number changes in programmed death‐ligand 1 (PD‐L1, CD274) – associations with gene expression, mutational load, and survival

Maristela L Onozato, S. Fröhling, A. Iafrate, 2016, Genes, chromosomes & cancer.

Colorectal mixed adenoneuroendocrine carcinomas and neuroendocrine carcinomas are genetically closely related to colorectal adenocarcinomas

M. Kloor, W. Weichert, A. Stenzinger, 2017, Modern Pathology.

Genotyping of colorectal cancer for cancer precision medicine: Results from the IPH Center for Molecular Pathology

M. Kloor, W. Weichert, P. Schirmacher, 2016, Genes, chromosomes & cancer.

Mutations in POLE and survival of colorectal cancer patients – link to disease stage and treatment

M. Kloor, H. Brenner, J. Chang-Claude, 2014, Cancer medicine.

Targeted ultra-deep sequencing reveals recurrent and mutually exclusive mutations of cancer genes in blastic plasmacytoid dendritic cell neoplasm

W. Klapper, S. Goerdt, W. Weichert, 2014, Oncotarget.

Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension

C. Fischer, A. Hager, M. Gorenflo, 2013, Respiratory Research.

Copy number changes of clinically actionable genes in melanoma, non‐small cell lung cancer and colorectal cancer—A survey across 822 routine diagnostic cases

Daniel Heim, Nicole Pfarr, Volker Endris, 2016, Genes, chromosomes & cancer.

MCL-1 gains occur with high frequency in lung adenocarcinoma and can be targeted therapeutically

Patrina S P Poh, S. Fröhling, R. Braren, 2020, Nature Communications.

Appendiceal goblet cell carcinoids and adenocarcinomas ex-goblet cell carcinoid are genetically distinct from primary colorectal-type adenocarcinoma of the appendix

W. Weichert, A. Stenzinger, M. Mollenhauer, 2018, Modern Pathology.

Several genotypes, one phenotype: PIK3CA/AKT1 mutation-negative hidradenoma papilliferum show genetic lesions in other components of the signalling network.

W. Weichert, P. Schirmacher, A. Stenzinger, 2019, Pathology.

Aggressive PDACs show hypomethylation of repetitive elements and the execution of an intrinsic IFN program linked to a ductal cell-of-origin.

R. Eils, C. Plass, A. Trumpp, 2020, Cancer discovery.

Integration of genomics and histology revises diagnosis and enables effective therapy of refractory cancer of unknown primary with PDL1 amplification

C. von Kalle, S. Fröhling, D. Jäger, 2016, Cold Spring Harbor molecular case studies.

Implementing cell-free DNA of pancreatic cancer patient-derived organoids for personalized oncology.

R. Braren, H. Friess, W. Weichert, 2020, JCI insight.

Whole Exome Sequencing of Biliary Tubulopapillary Neoplasms Reveals Common Mutations in Chromatin Remodeling Genes

W. Weichert, R. Rad, B. Goeppert, 2021, Cancers.

Next-generation diagnostics for precision oncology: preanalytical considerations, technical challenges, and available technologies.

Torsten Haferlach, Nicole Pfarr, Wilko Weichert, 2020, Seminars in cancer biology.

CD274/PD-L1 gene amplification and PD-L1 protein expression are common events in squamous cell carcinoma of the oral cavity

K. Wolff, R. Langer, W. Weichert, 2016, Oncotarget.

CD274/PD-L1 gene amplification and PD-L1 protein expression are common events in squamous cell carcinoma of the oral cavity

K. Wolff, R. Langer, W. Weichert, 2016, Oncotarget.

Molecular Genetic Investigation of Digital Melanoma in Dogs

R. Klopfleisch, A. Kehl, N. Pfarr, 2022, Veterinary sciences.

PD-1 Blockade Elicits Ongoing Remission in Two Cases of Refractory Microsatellite-Stable Cancer Harboring a POLE Mutation

S. Lorenzen, N. Pfarr, K. Schenck, 2021, Oncology Research and Treatment.

Maintenance of epithelial traits and resistance to mesenchymal reprogramming promote proliferation in metastatic breast cancer

A. Schneeweiss, S. Haas, A. Trumpp, 2020, bioRxiv.

Identification of a New Intronic BMPR2-Mutation and Early Diagnosis of Heritable Pulmonary Arterial Hypertension in a Large Family with Mean Clinical Follow-Up of 12 Years

C. Fischer, M. Lichtblau, E. Grünig, 2014, PloS one.

Mutational profiles of Brenner tumors show distinctive features uncoupling urothelial carcinomas and ovarian carcinoma with transitional cell histology

W. Weichert, P. Schirmacher, A. Stenzinger, 2017, Genes, chromosomes & cancer.

Detection of gene fusions using targeted next-generation sequencing: a comparative evaluation

W. Weichert, A. Hillmer, W. Goering, 2021, BMC medical genomics.

Utility of different massive parallel sequencing platforms for mutation profiling in clinical samples and identification of pitfalls using FFPE tissue

R. Penzel, V. Endris, F. Haller, 2015, International journal of molecular medicine.

[Molecular diagnostics of non-small cell lung cancer: New markers and technologies].

M. Kriegsmann, A. Warth, W. Weichert, 2015, Der Pathologe.

Molecular signaling in multiple myeloma: association of RAS/RAF mutations and MEK/ERK pathway activation

H. Goldschmidt, P. Schirmacher, R. Penzel, 2017, Oncogenesis.

Linking C5 Deficiency to an Exonic Splicing Enhancer Mutation

C. Burge, W. Fairbrother, D. Prawitt, 2005, The Journal of Immunology.

Linking C5 deficiency to an exonic splicing enhancer mutation

C. Burge, W. Fairbrother, D. Prawitt, 2009, The Journal of Immunology.

Autonomous thyroid adenoma: only an adulthood disease?

T. Musholt, N. Pfarr, M. Pohl, 2009, The Journal of pediatrics.

Morphology Matters

H. Friess, W. Weichert, D. Saur, 2021, The American journal of surgical pathology.

Morphology Matters

H. Friess, W. Weichert, D. Saur, 2021, American Journal of Surgical Pathology.

High‐throughput diagnostic profiling of clinically actionable gene fusions in lung cancer

A. Warth, H. Dienemann, W. Weichert, 2016, Genes, chromosomes & cancer.

Circulating Tumor DNA Profiling of a Diffuse Large B Cell Lymphoma Patient with Secondary Acute Myeloid Leukemia

W. Weichert, K. Götze, F. Bassermann, 2022, Cancers.

Molecular, morphological and survival analysis of 177 resected pancreatic ductal adenocarcinomas (PDACs): Identification of prognostic subtypes

J. Kleeff, V. Endris, C. Michalski, 2017, Scientific Reports.

The immunologic tumor microenvironment in endometrioid endometrial cancer in the morphomolecular context: mutual correlations and prognostic impact depending on molecular alterations

W. Weichert, A. Noske, B. Haller, 2020, Cancer Immunology, Immunotherapy.

Semiconductor-based sequencing of formalin-fixed, paraffin-embedded colorectal cancer samples.

W. Weichert, R. Penzel, V. Endris, 2015, The oncologist.

NGS-based BRCA1/2 mutation testing of high-grade serous ovarian cancer tissue: results and conclusions of the first international round robin trial

Michael Hummel, Ulrich Lehmann, Nicole Pfarr, 2016, Virchows Archiv.

First proficiency testing for NGS‐based and combined NGS‐ and FISH‐based detection of FGFR2 fusions in intrahepatic cholangiocarcinoma

W. Weichert, D. Kazdal, M. Kirchner, 2023, The journal of pathology. Clinical research.

Gene fusions are frequent in ACTH-secreting neuroendocrine neoplasms of the pancreas, but not in their non-pancreatic counterparts

R. Stoehr, A. Agaimy, G. Klöppel, 2023, Virchows Archiv.

Loss of RNF43 Function Contributes to Gastric Carcinogenesis by Impairing DNA Damage Response

W. Weichert, E. Kremmer, M. Vieth, 2020, Cellular and molecular gastroenterology and hepatology.

10PComparison of the mutational landscape of breast cancer during pregnancy and non-pregnant controls

W. Weichert, A. Stenzinger, C. Denkert, 2017 .

Mutations in genes encoding PI3K‐AKT and MAPK signaling define anogenital papillary hidradenoma

A. Warth, W. Weichert, A. Stenzinger, 2016, Genes, chromosomes & cancer.

TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge

T. Meitinger, J. Ramser, A. Meindl, 2020, Archives of Gynecology and Obstetrics.

Composition and Clinical Impact of the Immunologic Tumor Microenvironment in Oral Squamous Cell Carcinoma

K. Wolff, W. Weichert, A. Kolk, 2018, The Journal of Immunology.

Therapy response and prognosis of patients with early breast cancer with low positivity for hormone receptors - An analysis of 2765 patients from neoadjuvant clinical trials.

M. Rezai, P. Fasching, A. Schneeweiss, 2021, European journal of cancer.

Pancreatic neuroendocrine carcinomas reveal a closer relationship to ductal adenocarcinomas than to neuroendocrine tumors G3.

W. Weichert, G. Zamboni, B. Sipos, 2018, Human pathology.

Molecular characterization of hepatic epithelioid hemangioendothelioma reveals alterations in various genes involved in DNA repair, epigenetic regulation, signaling pathways, and cell cycle control

S. Fröhling, W. Weichert, P. Schirmacher, 2020, Genes, chromosomes & cancer.

Exceptional response to anti-PD-1 treatment in a patient with metastatic cutaneous hidradenocarcinoma.

P. Schmidle, N. Pfarr, C. Posch, 2021, European journal of cancer.

Multicenter validation of cancer gene panel-based next-generation sequencing for translational research and molecular diagnostics

G. Reifenberger, D. Aust, W. Weichert, 2018, Virchows Archiv.

Congenital primary hypothyroidism in a turkish family caused by a homozygous nonsense mutation (R609X) in the thyrotropin receptor gene.

B. Hauffa, N. Pfarr, A. Richter-Unruh, 2004, Thyroid : official journal of the American Thyroid Association.

Diverse ‘just-right’ levels of chromosomal instability and their clinical implications in neoadjuvant treated gastric cancer

W. Weichert, J. Slotta-Huspenina, A. Hapfelmeier, 2021, British Journal of Cancer.

Isolation and characterization of circulating tumor cells using a novel workflow combining the CellSearch® system and the CellCelector™

T. Fehm, W. Weichert, V. Endris, 2017, Biotechnology progress.

Prevalence of somatic mitochondrial mutations and spatial distribution of mitochondria in non-small cell lung cancer

M. Kriegsmann, A. Warth, W. Weichert, 2017, British Journal of Cancer.

Ioncopy: a novel method for calling copy number alterations in amplicon sequencing data including significance assessment

Carsten Denkert, Jan Budczies, Nicole Pfarr, 2016, Oncotarget.

Impact of Tumor Localization and Molecular Subtypes on the Prognostic and Predictive Significance of p53 Expression in Gastric Cancer

W. Weichert, J. Slotta-Huspenina, A. Hapfelmeier, 2020, Cancers.

mdm2 gene amplification is associated with luminal breast cancer progression in humanized PDX mice and a worse outcome of estrogen receptor positive disease

A. Trumpp, C. Denkert, S. Loibl, 2021, International journal of cancer.

An integrated cellular and molecular model of gastric neuroendocrine cancer evolution highlights therapeutic targets.

W. Weichert, K. Rajewsky, D. Saur, 2023, Cancer cell.

Genetic changes of non-small cell lung cancer under neoadjuvant therapy

Nicole Pfarr, Volker Endris, Wilko Weichert, 2016, Oncotarget.

Intra-abdominal EWSR1/FUS-CREM-rearranged malignant epithelioid neoplasms: two cases of an emerging aggressive entity with emphasis on misleading immunophenotype

A. Hartmann, R. Stoehr, A. Agaimy, 2021, Virchows Archiv.

Multiscale quantification of morphological heterogeneity with creation of a predictor of longer survival in glioblastoma

J. Gempt, B. Wiestler, C. Delbridge, 2023, International journal of cancer.

Mild congenital primary hypothyroidism in a Turkish family caused by a homozygous missense thyrotropin receptor (TSHR) gene mutation (A593 V).

N. Pfarr, J. Pohlenz,, R. Mühlenberg, 2005, Experimental and clinical endocrinology & diabetes.