Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Amin Ardeshirdavani"'
Autor:
Hanifeh Mirtavoos‐Mahyari, Sanaz Ajami, Amirhosein Mehrtash, Seyedeh Mahya Marashiyan, Farbod Bahreini, Kambiz Sheikhy, Sogol Ghanbari, Amin Ardeshirdavani
Publikováno v:
Clinical Case Reports, Vol 10, Iss 11, Pp n/a-n/a (2022)
Abstract Fibrochondrogenesis 1, an autosomal recessive syndrome, is a rare disease that causes short‐limbed skeletal dysplasia. Mutations in the gene encoding the α1 chain of type XI collagen (COL11A1) are seen to be the main cause of this disease
Externí odkaz:
https://doaj.org/article/3fb48d526c354db084f330fb5d828769
Autor:
Priit Paluoja, Hindrek Teder, Amin Ardeshirdavani, Baran Bayindir, Joris Vermeesch, Andres Salumets, Kaarel Krjutškov, Priit Palta
Publikováno v:
PLoS Computational Biology, Vol 17, Iss 12, p e1009684 (2021)
Non-invasive prenatal testing (NIPT) is a powerful screening method for fetal aneuploidy detection, relying on laboratory and computational analysis of cell-free DNA. Although several published computational NIPT analysis tools are available, no prio
Externí odkaz:
https://doaj.org/article/9502a8a197d9486dbd7940f103034e13
Autor:
Charlotte Bonte, Eleftheria Makri, Amin Ardeshirdavani, Jaak Simm, Yves Moreau, Frederik Vercauteren
Publikováno v:
BMC Bioinformatics, Vol 19, Iss 1, Pp 1-12 (2018)
Abstract Background The deployment of Genome-wide association studies (GWASs) requires genomic information of a large population to produce reliable results. This raises significant privacy concerns, making people hesitate to contribute their genetic
Externí odkaz:
https://doaj.org/article/a1c26057b8854feeae2323132e86f5e4
Autor:
Hanifeh Mirtavoos‐Mahyari, Sanaz Ajami, Amirhosein Mehrtash, Seyedeh Mahya Marashiyan, Farbod Bahreini, Kambiz Sheikhy, Sogol Ghanbari, Amin Ardeshirdavani
Publikováno v:
Clinical Case Reports. 10
Autor:
Haleh Chizari, Nishkala Sattanathan, Amin Ardeshirdavani, Nasim Shabani, Benjamin Huremagic, Joris Robert Vermeesch, Yves Moreau, Geert Vandeweyer
Next-generation sequencing (NGS) has been increasingly used in a wide range of research communities and in routine clinical practice and leads to an ever increasing amount of sequencing data. Sequencing data comes with, several challenges such as sha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5e5d9500b0b21b2b845dd90fa9b1e7e
https://doi.org/10.1101/2022.06.23.497325
https://doi.org/10.1101/2022.06.23.497325
Autor:
Heleen Masset, Jia Ding, Eftychia Dimitriadou, Amin Ardeshirdavani, Sophie Debrock, Olga Tšuiko, Katrien Smits, Karen Peeraer, Yves Moreau, Thierry Voet, Masoud Zamani Esteki, Joris R Vermeesch
Publikováno v:
NUCLEIC ACIDS RESEARCH
Nucleic Acids Research, 50(11):e63. Oxford University Press
Nucleic Acids Research, 50(11):e63. Oxford University Press
Single-cell whole-genome haplotyping allows simultaneous detection of haplotypes associated with monogenic diseases, chromosome copy-numbering and subsequently, has revealed mosaicism in embryos and embryonic stem cells. Methods, such as karyomapping
Autor:
Erika Souche, Sergi Beltran, Erwin Brosens, John W. Belmont, Magdalena Fossum, Olaf Riess, Christian Gilissen, Amin Ardeshirdavani, Gunnar Houge, Marielle van Gijn, Jill Clayton-Smith, Matthis Synofzik, Nicole de Leeuw, Zandra C. Deans, Yasemin Dincer, Sebastian H. Eck, Saskia van der Crabben, Meena Balasubramanian, Holm Graessner, Marc Sturm, Helen Firth, Alessandra Ferlini, Rima Nabbout, Elfride De Baere, Thomas Liehr, Milan Macek, Gert Matthijs, Hans Scheffer, Peter Bauer, Helger G. Yntema, Marjan M. Weiss
Publikováno v:
EUROPEAN JOURNAL OF HUMAN GENETICS
European Journal of Human Genetics, 30(9), 1017-1021. Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics, 30, 1017-1021
European Journal of Human Genetics, 30, 9, pp. 1017-1021
Souche, E, Beltran, S, Brosens, E, Belmont, J W, Fossum, M, Riess, O, Gilissen, C, Ardeshirdavani, A, Houge, G, van Gijn, M, Clayton-Smith, J, Synofzik, M, de Leeuw, N, Deans, Z C, Dincer, Y, Eck, S H, van der Crabben, S, Balasubramanian, M, Graessner, H, Sturm, M, Firth, H, Ferlini, A, Nabbout, R, De Baere, E, Liehr, T, Macek, M, Matthijs, G, Scheffer, H, Bauer, P, Yntema, H G & Weiss, M M 2022, ' Recommendations for whole genome sequencing in diagnostics for rare diseases ', European Journal of Human Genetics, vol. 30, pp. 1017–1021 . https://doi.org/10.1038/s41431-022-01113-x
European journal of human genetics 30(9), 1017-1021 (2022). doi:10.1038/s41431-022-01113-x
European journal of human genetics, 30(9), 1017-1021. Nature Publishing Group
European Journal of Human Genetics, 30. Nature Publishing Group
European Journal of Human Genetics, 30(9), 1017-1021. Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics, 30, 1017-1021
European Journal of Human Genetics, 30, 9, pp. 1017-1021
Souche, E, Beltran, S, Brosens, E, Belmont, J W, Fossum, M, Riess, O, Gilissen, C, Ardeshirdavani, A, Houge, G, van Gijn, M, Clayton-Smith, J, Synofzik, M, de Leeuw, N, Deans, Z C, Dincer, Y, Eck, S H, van der Crabben, S, Balasubramanian, M, Graessner, H, Sturm, M, Firth, H, Ferlini, A, Nabbout, R, De Baere, E, Liehr, T, Macek, M, Matthijs, G, Scheffer, H, Bauer, P, Yntema, H G & Weiss, M M 2022, ' Recommendations for whole genome sequencing in diagnostics for rare diseases ', European Journal of Human Genetics, vol. 30, pp. 1017–1021 . https://doi.org/10.1038/s41431-022-01113-x
European journal of human genetics 30(9), 1017-1021 (2022). doi:10.1038/s41431-022-01113-x
European journal of human genetics, 30(9), 1017-1021. Nature Publishing Group
European Journal of Human Genetics, 30. Nature Publishing Group
In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGentest in order to assist laboratories in the implementation and accreditation of NGS in a diagnostic setting. These guidelines mainly focused on Whole Ex
Autor:
Lotte Geyes, Nikola Lazovski, Ingrid van der Mei, Ricardo Alonso, Anna Glaser, Tomas Kalincik, Tina Parciak, Rumen Ivanov, Richard Nicholas, Arnfin Bergmann, Gilles Edan, Ashkan Pirmani, Hollie Schmidt, Amber Salter, Robert J. Fox, Steve Simpson-Yap, Johana Bauer, Jan Hillert, Liesbet Peeters, Giancarlo Comi, Amin Ardeshirdavani, Helmut Butzkueven, Alexander Fidao, Anibal Chertcoff, Alice Estavo Dias, Robert N. McBurney, Melinda Magyari, Lars Forsberg, Ana Zabalza, Georgina Arrambide, Alexander Stahmann, Rodden M. Middleton, Nupur Nag, Doralina Guimarães Brum, Nick Rijke, Guilherme Sciascia do Olival, Tim Spelman, Juan Ignacio Rojas, Edward De Brouwer, Clare Walton, Anneke van der Walt, Clément Gautrais, Maria Fernandes Mendes, Stefan Braune
Publikováno v:
International Journal of Epidemiology. 50
Background People with multiple sclerosis (MS) are a vulnerable group for severe COVID-19, particularly those taking immunosuppressive disease-modifying therapies (DMTs). We examined the characteristics of COVID-19 severity in an international sample
Autor:
Amin Ardeshirdavani, Hindrek Teder, Andres Salumets, Paluoja P, Priit Palta, Joris Vermeesch, Kaarel Krjutškov, Bayindir B
Publikováno v:
PLOS Computational Biology
PLoS Computational Biology
PLoS Computational Biology, Vol 17, Iss 12, p e1009684 (2021)
PLoS Computational Biology
PLoS Computational Biology, Vol 17, Iss 12, p e1009684 (2021)
Non-invasive prenatal testing (NIPT) is a powerful screening method for fetal aneuploidy detection, relying on laboratory and computational analysis of cell-free DNA. Although several published computational NIPT analysis tools are available, no prio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f9f55135461f9a243e3fc2d6cd1e8eb
https://doi.org/10.1101/2021.05.27.445941
https://doi.org/10.1101/2021.05.27.445941
Autor:
Kambiz Sheikhy, Sanaz Ajami, Amirhosein Mehrtash, Hanifeh Mirtavoos-Mahyari, Amin Ardeshirdavani, Farbod Bahreini, Sogol Ghanbari, Seyedeh Mahya Marashiyan
BackgroundFibrochondrogenesis 1, an autosomal recessive syndrome, is an infrequent and rare disease, causing short-limbed skeletal dysplasia. This syndrome is clinically characterized and distinguished by a small nose and anteverted bares, flat midfa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::33d4053cf8fd2bc7fb8af27b471fe189
https://doi.org/10.21203/rs.3.rs-369154/v1
https://doi.org/10.21203/rs.3.rs-369154/v1