Publications by authors named "Claus-Eric Ott"

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The Charité protocol for surveillance, treatment and after-care management in women with Lynch syndrome.
Lukas Chinczewski, Radoslav Chekerov, Severin Daum, Claus-Eric Ott, Jalid Sehouli

Arch Gynecol Obstet· November 2025

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Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Claus-Eric Ott

Nat Genet· July 2025

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Impact of genetic test interpretation on a missense variant in Cohen syndrome.
Gudrun Schottmann, Carmen Martínez Almudéver, Julia C M Knop, Eun Kyung Suk, Zianka Meyer, Claus-Eric Ott

Front Neurosci· December 2024

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A diagnostic challenge of KIT p.V559D and BRAF p.G469A mutations in a paragastric mass.
Stefan Habringer, Jana Ihlow, Karsten Kleo, Anna Klostermann, Max Schmidt, Claus-Eric Ott

Oncologist· October 2024

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Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Claus-Eric Ott

Nat Genet· August 2024

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Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study.
Alisa Maria Vittoria Reiter, Jean Tori Pantel, Magdalena Danyel, Denise Horn, Claus-Eric Ott

J Med Internet Res· March 2024

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HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.
Annika Gottschalk, Henrike L Sczakiel, Wiebke Hülsemann, Sarina Schwartzmann, Angela T Abad-Perez, Claus-Eric Ott

Genet Med· November 2023

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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Christopher Hakkaart, John F Pearson, Louise Marquart, Joe Dennis, George A R Wiggins, Rosa B Barkardottir, Charlotte Lautrup, Claus-Eric Ott

Commun Biol· October 2022

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Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Martine Dumont, Nana Weber-Lassalle, Charles Joly-Beauparlant, Corinna Ernst, Arnaud Droit, Claus-Eric Ott

Cancers (Basel)· July 2022

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A machine learning-based screening tool for genetic syndromes in children.
Martin Atta Mensah, Claus-Eric Ott, Denise Horn, Jean Tori Pantel

Lancet Digit Health· May 2022

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Prognostic significance of prenatal ultrasound in fetal arthrogryposis multiplex congenita.
Brit Busack, Claus-Eric Ott, Wolfgang Henrich, Stefan Verlohren

Arch Gynecol Obstet· April 2021

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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.
Daniel R Barnes, Matti A Rookus, Lesley McGuffog, Goska Leslie, Thea M Mooij, Rosa B Barkardottir, Lise Lotte Christensen, Claus-Eric Ott

Genet Med· October 2020

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Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study.
Jean Tori Pantel, Nurulhuda Hajjir, Magdalena Danyel, Jonas Elsner, Angela Teresa Abad-Perez, Claus-Eric Ott

J Med Internet Res· October 2020

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Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms.
Alexander Moscu-Gregor, Christoph Marschall, Carsten Müntjes, Anne Schönecker, Franziska Schuessler-Hahn, Claus-Eric Ott

J Cardiovasc Electrophysiol· June 2020

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Association of Genomic Domains in and with Prostate Cancer Risk and Aggressiveness.
Vivek L Patel, Evan L Busch, Tara M Friebel, Angel Cronin, Goska Leslie, Rosa B Barkardottir, Muriel Belotti, Lotte Krogh, Charlotte Lautrup, Claus-Eric Ott, Liselotte P van Hest, Cristina Zanzottera, Laura Ottini

Cancer Res· February 2020

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PEDIA: prioritization of exome data by image analysis.
Tzung-Chien Hsieh, Martin A Mensah, Jean T Pantel, Dione Aguilar, Omri Bar, Claus-Eric Ott

Genet Med· December 2019

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Evaluation of the role of STAP1 in Familial Hypercholesterolemia.
Magdalena Danyel, Claus-Eric Ott, Thomas Grenkowitz, Bastian Salewsky, Andrew A Hicks

Sci Rep· August 2019

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A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.
Marco Castori, Claus-Eric Ott, Luigi Bisceglia, Maria Pia Leone, Tommaso Mazza, Silvia Lanciotti

Am J Med Genet A· September 2018

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Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses.
Layal Abo Khayal, Johannes Grünhagen, Ivo Provazník, Stefan Mundlos, Uwe Kornak, Claus-Eric Ott

Bone· August 2018

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The Interaction of BMP2-Induced Defect Healing in Rat and Fixator Stiffness Modulates Matrix Alignment and Contraction.
Carolin Schwarz, Claus-Eric Ott, Dag Wulsten, Erik Brauer, Sophie Schreivogel

JBMR Plus· May 2018

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Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.
Wing Lee Chan, Magdalena Steiner, Tomasz Witkos, Johannes Egerer, Björn Busse, Claus-Eric Ott

PLoS Genet· March 2018

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BMPs as new insulin sensitizers: enhanced glucose uptake in mature 3T3-L1 adipocytes via PPARγ and GLUT4 upregulation.
Isabelle Schreiber, Gina Dörpholz, Claus-Eric Ott, Bjørt Kragesteen, Nancy Schanze

Sci Rep· December 2017

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Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient.
Karolina Kobus, Daniela Hartl, Claus Eric Ott, Monika Osswald, Angela Huebner

PLoS One· January 2016

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Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?
Katja Stange, Claus-Eric Ott, Mareen Schmidt-von Kegler, Gabriele Gillesen-Kaesbach, Stefan Mundlos

J Hum Genet· August 2015

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Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome.
Elisa Degenkolbe, Carolin Schwarz, Claus-Eric Ott, Jana König, Katharina Schmidt-Bleek

Bone· April 2015

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