Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Maja Tarailo-Graovac"'
Publikováno v:
BMC Bioinformatics, Vol 25, Iss 1, Pp 1-21 (2024)
Abstract Background Thousands of genes have been associated with different Mendelian conditions. One of the valuable sources to track these gene-disease associations (GDAs) is the Online Mendelian Inheritance in Man (OMIM) database. However, most of
Externí odkaz:
https://doaj.org/article/7aefc60d39234aef92cb47ca135280c8
Autor:
Tatiana Maroilley, Meng‐Han Tsai, Rumika Mascarenhas, Catherine Diao, Maryam Khanbabaei, Sabine Kaya, Christel Depienne, Maja Tarailo‐Graovac, Karl Martin Klein
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 659-665 (2023)
Abstract Familial adult myoclonic epilepsy (FAME) is an adult‐onset neurological disease characterized by cortical tremor, myoclonus, and seizures due to a pentanucleotide repeat expansion: a combination of pathogenic TTTCA expansion associated wit
Externí odkaz:
https://doaj.org/article/b2e5a45fd1074c5ebc0bbf673f737af7
Autor:
Simona D. Frederiksen, Vladimir Avramović, Tatiana Maroilley, Anna Lehman, Laura Arbour, Maja Tarailo-Graovac
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-18 (2022)
Abstract Background The diagnostic journey for many rare disease patients remains challenging despite use of latest genetic technological advancements. We hypothesize that some patients remain undiagnosed due to more complex diagnostic scenarios that
Externí odkaz:
https://doaj.org/article/c058a28ebd86479c88016e4fb63d6f23
Publikováno v:
Human Genomics, Vol 15, Iss 1, Pp 1-13 (2021)
Abstract Background Genetic variation databases provide invaluable information on the presence and frequency of genetic variants in the ‘untargeted’ human population, aggregated with the primary goal to facilitate the interpretation of clinically
Externí odkaz:
https://doaj.org/article/b826f121dc094fa9b868327290574273
Autor:
Francesca Jean, Susan Stasiuk, Tatiana Maroilley, Catherine Diao, Andrew Galbraith, Maja Tarailo-Graovac
Publikováno v:
BMC Genomics, Vol 22, Iss 1, Pp 1-15 (2021)
Abstract Background Intragenic modifiers (in-phase, second-site variants) are known to have dramatic effects on clinical outcomes, affecting disease attributes such as severity or age of onset. However, despite their clinical importance, the focus of
Externí odkaz:
https://doaj.org/article/89e331a0c6c34531acfc0e878d10e41d
Autor:
Tatiana Maroilley, Xiao Li, Matthew Oldach, Francesca Jean, Susan J. Stasiuk, Maja Tarailo-Graovac
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Genomic rearrangements cause congenital disorders, cancer, and complex diseases in human. Yet, they are still understudied in rare diseases because their detection is challenging, despite the advent of whole genome sequencing (WGS) technolog
Externí odkaz:
https://doaj.org/article/cc2274dbe4434c73b2ead9382c12c03a
Autor:
Alison M. Elliott, Shelin Adam, Christèle du Souich, Anna Lehman, Tanya N. Nelson, Clara van Karnebeek, Emily Alderman, Linlea Armstrong, Gudrun Aubertin, Katherine Blood, Cyrus Boelman, Cornelius Boerkoel, Karla Bretherick, Lindsay Brown, Chieko Chijiwa, Lorne Clarke, Madeline Couse, Susan Creighton, Abby Watts-Dickens, William T. Gibson, Harinder Gill, Maja Tarailo-Graovac, Sara Hamilton, Harindar Heran, Gabriella Horvath, Lijia Huang, Gurdip K. Hulait, David Koehn, Hyun Kyung Lee, Suzanne Lewis, Elena Lopez, Kristal Louie, Karen Niederhoffer, Allison Matthews, Kirsten Meagher, Junran J. Peng, Millan S. Patel, Simone Race, Phillip Richmond, Rosemarie Rupps, Ramona Salvarinova, Kimberly Seath, Kathryn Selby, Michelle Steinraths, Sylvia Stockler, Kaoru Tang, Christine Tyson, Margot van Allen, Wyeth Wasserman, Jill Mwenifumbo, Jan M. Friedman
Publikováno v:
HGG Advances, Vol 3, Iss 3, Pp 100108- (2022)
Summary: Genome-wide sequencing (GWS) is a standard of care for diagnosis of suspected genetic disorders, but the proportion of patients found to have pathogenic or likely pathogenic variants ranges from less than 30% to more than 60% in reported stu
Externí odkaz:
https://doaj.org/article/d29b9915f4b74cfe801ed2dbe124d5cc
Autor:
Tatiana Maroilley, Nicola A. M. Wright, Catherine Diao, Linda MacLaren, Gerald Pfeffer, Justyna R. Sarna, Ping Yee Billie Au, Maja Tarailo-Graovac
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Ataxia–telangiectasia (AT) is a complex neurodegenerative disease with an increased risk for bone marrow failure and malignancy. AT is caused by biallelic loss of function variants in ATM, which encodes a phosphatidylinositol 3-kinase that responds
Externí odkaz:
https://doaj.org/article/0da7af0c6dbb48f197c965836205d610
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Autosomal recessive primary microcephaly (MCPH; “small head syndrome”) is a rare, heterogeneous disease arising from the decreased production of neurons during brain development. As of August 2020, the Online Mendelian Inheritance in Man (OMIM) d
Externí odkaz:
https://doaj.org/article/341e228b728b481db6227fdd58ef4744
Autor:
Maja Tarailo‐Graovac, Farah R. Zahir, Irena Zivkovic, Michelle Moksa, Kathryn Selby, Sunita Sinha, Corey Nislow, Sylvia G. Stockler‐Ipsiroglu, Ruth Sheffer, Ann Saada‐Reisch, Jan M. Friedman, Clara D. M. vanKarnebeek, Gabriella A. Horvath
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
Abstract Background Profiling the entire genome at base pair resolution in a single test offers novel insights into disease by means of dissection of genetic contributors to phenotypic features. Methods We performed genome sequencing for a patient wh
Externí odkaz:
https://doaj.org/article/431df59ffec0495999ad7c1a0e1e7857