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Your search keyword '"Bahr, Angela"' showing total 6 results
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6 results on '"Bahr, Angela"'

1. A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome

Author

Frey, Tanja, Ivanovski, Ivan, Bahr, Angela, Zweier, Markus, Laube, Julia, Luchsinger, Isabelle, Steindl, Katharina, Rauch, Anita, and University of Zurich

Subjects
RASopathy, p.Ala59Gly, 10036 Medical Clinic, 10039 Institute of Medical Genetics, U9 Adaptive Brain Circuits in Development and Learning (AdaBD), loose anagen hair, HRAS, 570 Life sciences, biology, related RASopathy, 610 Medicine & health, Costello syndrome, Genetics (clinical), attenuated phenotype
Published
2023
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2. Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders

Author

Boonsawat, Paranchai, Horn, Anselm H C, Steindl, Katharina, Baumer Wolz, Alessandra, Joset, Pascal, Kraemer, Dennis, Bahr, Angela, Ivanovski, Ivan, Cabello Ferrete, Elena, Papik, Michael, Zweier, Markus, Oneda, Beatrice, Sirleto, Pietro, Burkhardt, Tilo, Sticht, Heinrich, Rauch, Anita, and University of Zurich

Subjects
10036 Medical Clinic, 10039 Institute of Medical Genetics, Genetics, 570 Life sciences, biology, 610 Medicine & health, preventive medicine, Molecular Biology, 10026 Clinic for Obstetrics, Genetics (clinical), 10174 Clinic for Gynecology, genetic testing
Abstract

The magnitude of clinical utility of preconception expanded carrier screening (ECS) concerning its potential to reduce the risk of affected offspring is unknown. Since neurodevelopmental disorders (NDDs) in their offspring is a major concern of parents-to-be, we addressed the question of residual risk by assessing the risk-reduction potential for NDDs in a retrospective study investigating ECS with different criteria for gene selection and definition of pathogenicity. We used exome sequencing data from 700 parents of children with NDDs and blindly screened for carrier-alleles in up to 3046 recessive/X-linked genes. Depending on variant pathogenicity thresholds and gene content, NDD-risk-reduction potential was up to 43.5% in consanguineous, and 5.1% in nonconsanguineous couples. The risk-reduction-potential was compromised by underestimation of pathogenicity of missense variants (false-negative-rate 4.6%), inherited copy-number variants and compound heterozygosity of one inherited and one de novo variant (0.9% each). Adherence to the ACMG recommendations of restricting ECS to high-frequency genes in nonconsanguineous couples would more than halve the detectable inherited NDD-risk. Thus, for optimized clinical utility of ECS, screening in recessive/X-linked genes regardless of their frequency (ACMG Tier-4) and sensible pathogenicity thresholds should be considered for all couples seeking ECS.

Published
2022

3. Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

Author

Collier, Jack J, Guissart, Claire, Oláhová, Monika, Sasorith, Souphatta, Piron-Prunier, Florence, et al, Bahr, Angela, Azzarello-Burri, Silvia, Rauch, Anita, and University of Zurich

Subjects
10039 Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, 2700 General Medicine
Published
2021

4. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Author

Kummeling, Joost, Stremmelaar, Diante E, Raun, Nicholas, Reijnders, Margot R F, Willemsen, Marjolein H, Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C O, Gilissen, Christian, Cho, Megan T, McWalter, Kirsty, Sinnema, Margje, Wheless, James W, Simon, Marleen E H, Genetti, Casie A, Casey, Alicia M, Terhal, Paulien A, van der Smagt, Jasper J, van Gassen, Koen L I, Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A, Agrawal, Pankaj B, Hoffman, Trevor L, Powell-Hamilton, Nina N, Thiffault, Isabelle, et al, and University of Zurich

Subjects
2738 Psychiatry and Mental Health, 10039 Institute of Medical Genetics, 1312 Molecular Biology, 2804 Cellular and Molecular Neuroscience, 570 Life sciences, biology, 610 Medicine & health
Published
2021

5. Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

Author

Zanoni, Paolo, Steindl, Katharina, Sengupta, Deepanwita, Joset, Pascal, Bahr, Angela, Sticht, Heinrich, Lang-Muritano, Mariarosaria, et al, Zweier, Markus, Gozani, Or, Rauch, Anita, University of Zurich, Zanoni, Paolo, and Rauch, Anita

Subjects
2716 Genetics (clinical), 10039 Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health
Published
2021
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