C. Perne

发表

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

M. Nöthen, D. Horn, S. Mundlos, 2021, medRxiv.

Early detection of duodenal cancer by upper gastrointestinal‐endoscopy in Lynch syndrome

M. Kloor, C. Strassburg, M. Loeffler, 2021, International journal of cancer.

CD24 controls Src/STAT3 activity in human tumors

T. Schlange, P. Altevogt, C. Mierke, 2012, Cellular and Molecular Life Sciences.

International society for gastrointestinal hereditary tumours—InSiGHT

M. Kloor, M. Loeffler, W. Schmiegel, 2019, Familial Cancer.

Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database

B. Bonanni, P. Møller, E. Hovig, 2020, Journal of clinical medicine.

Value of upper gastrointestinal endoscopy for gastric cancer surveillance in patients with Lynch syndrome

M. Kloor, C. Strassburg, M. Loeffler, 2020, International journal of cancer.

Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Aung Ko Win, M. von Knebel Doeberitz, B. Bonanni, 2021, European journal of cancer.

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Aung Ko Win, M. von Knebel Doeberitz, B. Bonanni, 2020, Genetics in Medicine.

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

W. Foulkes, M. Jackson, K. Dahan, 2019, Human mutation.

Value of EGD for gastric cancer surveillance in patients with hereditary non-polyposis colorectal cancer (HNPCC) or Lynch syndrome (LS).

M. Kloor, C. Strassburg, M. Loeffler, 2018 .

Clinical characteristics and EGD surveillance in Lynch-syndrome patients with small bowel/duodenal carcinomas.

M. Kloor, C. Strassburg, M. Loeffler, 2018 .

Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

Aung Ko Win, M. Kloor, B. Bonanni, 2022, Hereditary Cancer in Clinical Practice.

Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome

Alexej Knaus, Tzung-Chien Hsieh, P. Krawitz, 2022, Human mutation.

Antibody targeting of CD24 efficiently retards growth and influences cytokine milieu in experimental carcinomas

T. Schlange, P. Altevogt, I. Herr, 2013, British Journal of Cancer.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

M. Nöthen, D. Horn, S. Mundlos, 2022, Nature Genetics.

Adenoma and colorectal cancer risks in Lynch syndrome, Lynch‐like syndrome and familial colorectal cancer type X

M. Kloor, M. von Knebel Doeberitz, M. Loeffler, 2021, International journal of cancer.

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

Aung Ko Win, M. von Knebel Doeberitz, B. Bonanni, 2021, Journal of clinical medicine.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

D. Horn, S. Mundlos, M. Spielmann, 2022, Nature Genetics.

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.

Katherine M. Tucker, Aung Ko Win, Swati G. Patel, 2021, The Lancet. Oncology.

Age‐dependent performance of BRAF mutation testing in Lynch syndrome diagnostics

M. Kloor, M. von Knebel Doeberitz, H. Brenner, 2020, International journal of cancer.

CD24 controls Src/STAT3 activity in human tumors

T. Schlange, P. Altevogt, C. Mierke, 2012, Cellular and Molecular Life Sciences.

Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence

P. May, G. Capellá, A. Forstner, 2022, BMC Medical Genomics.

Empfehlungen zur Früherkennung, Risikoreduktion, Überwachung und Therapie bei Patienten mit Lynch-Syndrom

M. Kloor, C. Strassburg, M. Loeffler, 2019, Zeitschrift für Gastroenterologie.

Constitutional microsatellite instability, genotype, and phenotype correlations in Constitutional Mismatch Repair Deficiency.

L. Guerrini-Rousseau, K. Dahan, G. Borthwick, 2022, Gastroenterology.

BRAFmutation testing of MSI CRCs in Lynch syndrome diagnostics: performance and efficiency according to patient’s age

M. Kloor, M. von Knebel Doeberitz, H. Brenner, 2019 .

Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study

M. Kloor, M. von Knebel Doeberitz, C. Strassburg, 2020, BMC Cancer.

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Heinen, Heiko, Kehrer, 2023, medRxiv.

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

Aung Ko Win, M. von Knebel Doeberitz, B. Bonanni, 2023, EClinicalMedicine.

Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis

M. Odenthal, M. Peifer, A. Hillmer, 2021, PloS one.

Next-generation phenotyping contributing to the identification of a non-coding deletion in KANSL1 causing Koolen-de Vries syndrome

P. Krawitz, C. Perne, Fabian Brand, 2022 .

International society for gastrointestinal hereditary tumours—InSiGHT

M. Kloor, M. Loeffler, W. Schmiegel, 2019, Familial Cancer.

Extraction of more than 10 kW from a single ytterbium-doped MM-fiber

Volker Krause, Matthias Ackermann, Robert Lange, 2019, LASE.

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

W. Foulkes, M. Jackson, K. Dahan, 2019, Human mutation.