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Author Details

Claus-Eric Ott
Charite-Universitatsmedizin Berlin
2002
40
20
PMIDPaper TitleJournal TitlePublished Year
37427568HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.Genet Med2023
35461687A machine learning-based screening tool for genetic syndromes in children.Lancet Digit Health2022
33090266Prognostic significance of prenatal ultrasound in fetal arthrogryposis multiplex congenita.Arch Gynecol Obstet2021
32173957Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms.J Cardiovasc Electrophysiol2020
31723001Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and Aggressiveness.Cancer Res2020
33090109Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study.J Med Internet Res2020
31164752PEDIA: prioritization of exome data by image analysis.Genet Med2019
31427613Evaluation of the role of STAP1 in Familial Hypercholesterolemia.Sci Rep2019
29561836Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.PLoS Genet2018
30194892A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.Am J Med Genet A2018
30283901The Interaction of BMP2-Induced Defect Healing in Rat and Fixator Stiffness Modulates Matrix Alignment and Contraction.JBMR Plus2018
29653293Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses.Bone2018
29222456BMPs as new insulin sensitizers: enhanced glucose uptake in mature 3T3-L1 adipocytes via PPARγ and GLUT4 upregulation.Sci Rep2017
25543012Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome.Bone2015
25994865Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?J Hum Genet2015
25775093Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient.PLoS One2015
25407900MiR-497⿼195 cluster microRNAs regulate osteoblast differentiation by targeting BMP signaling.J Bone Miner Res2015
24913064Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.Mol Genet Metab2014
25315429Deletions of chromosomal regulatory boundaries are associated with congenital disease.Genome Biol2014
25064449Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes.Mol Cell Biochem2014
23100322Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice.Hum Mol Genet2013
26798667Indomethacin Prevents the Progression of Thoracic Aortic Aneurysm in Marfan Syndrome Mice.Aorta (Stamford)2013
23899634On microRNA-214 suppressing osteogenic differentiation of C2C12 myoblast cells by targeting Osterix.Bone2013
23685543Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.Bone2013
23262291miR-181a promotes osteoblastic differentiation through repression of TGF-β signaling molecules.Int J Biochem Cell Biol2013
23294503The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta.J Vasc Surg2013
22717651Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia.J Med Genet2012
20853016Quantification and significance of fluid shear stress field in biaxial cell stretching device.Biomech Model Mechanobiol2011
21305018MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites.PLoS One2011
21435219Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing.BMC Genomics2011
20648631Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.Hum Mutat2010
19257815Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts.J Bone Miner Res2009
19800049Clinical diagnostics in human genetics with semantic similarity searches in ontologies.Am J Hum Genet2009
19327734Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.Am J Hum Genet2009
19446815Biaxial cell stimulation: A mechanical validation.J Biomech2009
18178630A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.J Med Genet2008
18831060Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.Am J Med Genet A2008
18252226Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.Am J Hum Genet2008
17236129Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.Am J Hum Genet2007
11836579Thin section arrays for I-FISH analysis of chromosome-specific imbalances in squamous cell carcinomas of the head and neck.Int J Oncol2002
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Co-authored papers 26
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Co-authored papers 13
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Christi J van Asperen
Leiden University Medical Center
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Damian Smedley
William Harvey Research Institute, Queen Mary University of London
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Doris Steinemann
Hannover Medical School
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Katherine L Nathanson
Perelman School of Medicine, University of Pennsylvania, USA Abramson Cancer Center
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Timothy R Rebbeck
Center for Cancer Equity and Engagement, Dana-Farber/Harvard Cancer Center
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Esther M John
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Ho-Ryun Chung
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Release 1.2