Publications by authors named "Nils Rahner"

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De novo variants in ATP2B1 lead to neurodevelopmental delay.
Meer Jacob Rahimi, Nicole Urban, Meret Wegler, Heinrich Sticht, Michael Schaefer, Nils Rahner

Am J Hum Genet· December 2025

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Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
Stephanie Efthymiou, Cailyn P Leo, Chenghong Deng, Sheng-Jia Lin, Reza Maroofian, Nils Rahner

Am J Hum Genet· May 2025

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Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.
Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Nils Rahner

medRxiv· May 2025

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Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
Anne S Schmitz, Janani Raju, Wolfgang Köhler, Stephan Klebe, Khaled Cheheb, Nils Rahner

J Neurol· September 2024

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Endometrial Cancer. Guideline of the DGGG, DKG and DKH (S3-Level, AWMF Registry Number 032/034-OL, September 2022) - Part 2 with Recommendations on the Therapy of Precancerous Lesions and Early-stage Endometrial Cancer, Surgical Therapy, Radiotherapy and Drug-based Therapy, Follow-up Care, Recurrence and Metastases, Psycho-oncological Care, Palliative Care, Patient Education, and Rehabilitative and Physiotherapeutic Care.
Günter Emons, Eric Steiner, Dirk Vordermark, Christoph Uleer, Kerstin Paradies, Nils Rahner

Geburtshilfe Frauenheilkd· August 2023

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Endometrial Cancer. Guideline of the DGGG, DKG and DKH (S3-Level, AWMF Registry Number 032/034-OL, September 2022). Part 1 with Recommendations on the Epidemiology, Screening, Diagnosis and Hereditary Factors of Endometrial Cancer, Geriatric Assessment and Supply Structures.
Günter Emons, Eric Steiner, Dirk Vordermark, Christoph Uleer, Kerstin Paradies, Nils Rahner

Geburtshilfe Frauenheilkd· August 2023

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De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
Lydia von Wintzingerode, Bruria Ben-Zeev, Claudia Cesario, Katie M Chan, Christel Depienne, Nils Rahner

Genet Med· July 2023

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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.
Mev Dominguez-Valentin, Saskia Haupt, Toni T Seppälä, Julian R Sampson, Lone Sunde, Nils Rahner

EClinicalMedicine· April 2023

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Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.
Pål Møller, Toni Seppälä, James G Dowty, Saskia Haupt, Mev Dominguez-Valentin, Nils Rahner

Hered Cancer Clin Pract· October 2022

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De novo variants in ATP2B1 lead to neurodevelopmental delay.
Meer Jacob Rahimi, Nicole Urban, Meret Wegler, Heinrich Sticht, Michael Schaefer, Nils Rahner

Am J Hum Genet· May 2022

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Early detection of duodenal cancer by upper gastrointestinal-endoscopy in Lynch syndrome.
Deepak B Vangala, Swetlana Ladigan-Badura, Christoph Engel, Robert Hüneburg, Claudia Perne, Nils Rahner

Int J Cancer· December 2021

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No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in and : A Prospective Lynch Syndrome Database Study.
Mev Dominguez-Valentin, John-Paul Plazzer, Julian R Sampson, Christoph Engel, Stefan Aretz, Nils Rahner

J Clin Med· June 2021

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Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Mev Dominguez-Valentin, Emma J Crosbie, Christoph Engel, Stefan Aretz, Finlay Macrae, Nils Rahner

Genet Med· April 2021

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Value of upper gastrointestinal endoscopy for gastric cancer surveillance in patients with Lynch syndrome.
Swetlana Ladigan-Badura, Deepak B Vangala, Christoph Engel, Karolin Bucksch, Robert Hueneburg, Nils Rahner

Int J Cancer· January 2021

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Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics.
Hendrik Bläker, Saskia Haupt, Monika Morak, Elke Holinski-Feder, Alexander Arnold, Nils Rahner

Int J Cancer· November 2020

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Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Mev Dominguez-Valentin, Julian R Sampson, Toni T Seppälä, Sanne W Ten Broeke, John-Paul Plazzer, Nils Rahner

Genet Med· September 2020

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Pathogenic PTPN11 variants involving the poly-glutamine Gln -Gln -Gln stretch highlight the relevance of helix B in SHP2's functional regulation.
Simone Martinelli, Luca Pannone, Christina Lissewski, Julia Brinkmann, Elisabetta Flex, Nils Rahner

Hum Mutat· June 2020

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Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study.
Karolin Bucksch, Silke Zachariae, Stefan Aretz, Reinhard Büttner, Elke Holinski-Feder, Nils Rahner

BMC Cancer· May 2020

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Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome.
Christoph Engel, Aysel Ahadova, Toni T Seppälä, Stefan Aretz, Marloes Bigirwamungu-Bargeman, Nils Rahner

Gastroenterology· April 2020

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Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Mev Dominguez-Valentin, Julian R Sampson, Toni T Seppälä, Sanne W Ten Broeke, John-Paul Plazzer, Nils Rahner

Genet Med· January 2020

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Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.
Monika Morak, Kerstin Schaefer, Verena Steinke-Lange, Udo Koehler, Susanne Keinath, Nils Rahner

Eur J Hum Genet· December 2019

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The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect.
Sanne W Ten Broeke, Mar Rodríguez-Girondo, Manon Suerink, Stefan Aretz, Inge Bernstein, Nils Rahner

Cancer Epidemiol Biomarkers Prev· June 2019

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Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.
Toni T Seppälä, Aysel Ahadova, Mev Dominguez-Valentin, Finlay Macrae, D Gareth Evans, Nils Rahner

Hered Cancer Clin Pract· February 2019

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Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Number 032/034-OL, April 2018) - Part 2 with Recommendations on the Therapy and Follow-up of Endometrial Cancer, Palliative Care, Psycho-oncological/Psychosocial Care/Rehabilitation/Patient Information and Healthcare Facilities.
Günter Emons, Eric Steiner, Dirk Vordermark, Christoph Uleer, Nina Bock, Nils Rahner

Geburtshilfe Frauenheilkd· November 2018

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Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Nummer 032/034-OL, April 2018) - Part 1 with Recommendations on the Epidemiology, Screening, Diagnosis and Hereditary Factors of Endometrial Cancer.
Günter Emons, Eric Steiner, Dirk Vordermark, Christoph Uleer, Nina Bock, Nils Rahner

Geburtshilfe Frauenheilkd· October 2018

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