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Your search keyword '"Nothnagel, M. (Michael)"' showing total 2 results
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2 results on '"Nothnagel, M. (Michael)"'

1. Testing the impact of trait prevalence priors in Bayesian-based genetic prediction modeling of human appearance traits

Author

Katsara, M.-A. (Maria-Alexandra), Branicki, W. (Wojciech), Pośpiech, E. (Ewelina), Hysi, P. (Pirro), Walsh, S. (Susan), Kayser, M. (Manfred), Nothnagel, M. (Michael), Katsara, M.-A. (Maria-Alexandra), Branicki, W. (Wojciech), Pośpiech, E. (Ewelina), Hysi, P. (Pirro), Walsh, S. (Susan), Kayser, M. (Manfred), and Nothnagel, M. (Michael)

Abstract

The prediction of appearance traits by use of solely genetic information has become an established approach and a number of statistical prediction models have already been developed for this purpose. However, given limited knowledge on appearance genetics, currently available models are incomplete and do not include all causal genetic variants as predictors. Therefore such prediction models may benefit from the inclusion of additional information that acts as a proxy for this unknown genetic background. Use of priors, possibly informed by trait category prevalence values in biogeographic ancestry groups, in a Bayesian framework may thus improve the prediction accuracy of previously predicted externally visible characteristics, but has not been investigated as of yet. In this study, we assessed the impact of using trait prevalence-informed priors on the prediction pe

Published
2021
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2. Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes

Author

Lal, D. (Dennis), Reinthaler, E.M. (Eva M.), Dejanovic, B. (Borislav), May, P. (Patrick), Thiele, H. (Holger), Lehesjoki, A.E., Schwarz, G. (Günter), Riesch, E. (Erik), Ikram, M.A. (Arfan), Duijn, C.M. (Cornelia) van, Uitterlinden, A.G. (André), Hofman, A. (Albert), Steinböck, H. (Hannelore), Gruber-Sedlmayr, U. (Ursula), Neophytou, B. (Birgit), Zara, F. (Federico), Hahn, A. (Andreas), Gormley, A.M., Becker, F. (Felicitas), Weber, Y.G. (Yvonne G.), Cilio, M.R. (Maria Roberta), Kunz, W.S. (Wolfram S.), Krause, R. (Roland), Zimprich, F. (Fritz), Lemke, J.R. (Johannes R.), Nürnberg, P. (Peter), Sander, T. (Thomas), Lerche, H. (Holger), Neubauer, B.A. (Bernd A.), Palotie, A. (Aarno), Ruppert, A.-K. (Ann-Kathrin), Suls, A. (A.), Siren, A. (Auli), Koeleman, B.P.C. (Bobby), Haberlandt, E. (Edda), Ronen, G.M. (Gabriel M.), Caglayan, H. (Hande), Hjalgrim, H. (Helle), Muhle, H. (Hiltrud), Schulz, H. (Herbert), Helbig, I. (Ingo), Altmüller, J. (Janine), Geldner, J. (Julia), Schubert, J. (Julian), Jabbari, K. (Kamel), Everett, K. (Kate), Feucht, M. (Martha), Balestri, M. (Martina), Nothnagel, M. (Michael), Striano, P. (Pasquale), Møller, R.S. (Rikke), Nabbout, R. (Rima), Balling, R. (Rudi), Baulac, S. (Stephanie), Kunz, W. (Wolfram), Bianchi, A. (Amedeo), La Neve, A. (Angela), Minetti, C., Giuseppe, C. (Capovilla), Lal, D. (Dennis), Reinthaler, E.M. (Eva M.), Dejanovic, B. (Borislav), May, P. (Patrick), Thiele, H. (Holger), Lehesjoki, A.E., Schwarz, G. (Günter), Riesch, E. (Erik), Ikram, M.A. (Arfan), Duijn, C.M. (Cornelia) van, Uitterlinden, A.G. (André), Hofman, A. (Albert), Steinböck, H. (Hannelore), Gruber-Sedlmayr, U. (Ursula), Neophytou, B. (Birgit), Zara, F. (Federico), Hahn, A. (Andreas), Gormley, A.M., Becker, F. (Felicitas), Weber, Y.G. (Yvonne G.), Cilio, M.R. (Maria Roberta), Kunz, W.S. (Wolfram S.), Krause, R. (Roland), Zimprich, F. (Fritz), Lemke, J.R. (Johannes R.), Nürnberg, P. (Peter), Sander, T. (Thomas), Lerche, H. (Holger), Neubauer, B.A. (Bernd A.), Palotie, A. (Aarno), Ruppert, A.-K. (Ann-Kathrin), Suls, A. (A.), Siren, A. (Auli), Koeleman, B.P.C. (Bobby), Haberlandt, E. (Edda), Ronen, G.M. (Gabriel M.), Caglayan, H. (Hande), Hjalgrim, H. (Helle), Muhle, H. (Hiltrud), Schulz, H. (Herbert), Helbig, I. (Ingo), Altmüller, J. (Janine), Geldner, J. (Julia), Schubert, J. (Julian), Jabbari, K. (Kamel), Everett, K. (Kate), Feucht, M. (Martha), Balestri, M. (Martina), Nothnagel, M. (Michael), Striano, P. (Pasquale), Møller, R.S. (Rikke), Nabbout, R. (Rima), Balling, R. (Rudi), Baulac, S. (Stephanie), Kunz, W. (Wolfram), Bianchi, A. (Amedeo), La Neve, A. (Angela), Minetti, C., and Giuseppe, C. (Capovilla)

Abstract

Objective: The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of high-throughput next-generation sequencing, clinical laboratories are generating an ever-increasing catalogue of SCN1A variants. Variants are more likely to be classified as pathogenic if they have already been identified previously in a patient with epilepsy. Here, we critically re-evaluate the pathogenicity of this class of variants in a cohort of patients with common epilepsy syndromes and subsequently ask whether a significant fraction of benign variants have been misclassified as pathogenic. Methods: We screened a discovery cohort of 448 patients with a broad range of common genetic epilepsies and 734 controls for previously reported SCN1A mutations that were assumed to be disease causing. We re-evaluated the evidence for pathogenicity of the identified variants using in silico predictions, segregation, original reports, available functional data and assessment of allele frequencies in healthy individuals as well as in a follow up cohort of 777 patients. Results and Interpretation: We identified 8 known missense mutations, previously reported as patho

Published
2016
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