A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

Autor: Livia O. Loureiro, Jennifer L. Howe, Miriam S. Reuter, Alana Iaboni, Kristina Calli, Delnaz Roshandel, Iva Pritišanac, Alan Moses, Julie D. Forman-Kay, Brett Trost, Mehdi Zarrei, Olivia Rennie, Lynette Y. S. Lau, Christian R. Marshall, Siddharth Srivastava, Brianna Godlewski, Elizabeth D. Buttermore, Mustafa Sahin, Dean Hartley, Thomas Frazier, Jacob Vorstman, Stelios Georgiades, Suzanne M. E. Lewis, Peter Szatmari, Clarrisa A. (Lisa) Bradley, Anne-Claude Tabet, Marjolaine Willems, Serge Lumbroso, Amélie Piton, James Lespinasse, Richard Delorme, Thomas Bourgeron, Evdokia Anagnostou, Stephen W. Scherer

Publikováno v: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-12 (2021)

Abstract Autism Spectrum Disorder (ASD) is genetically complex with ~100 copy number variants and genes involved. To try to establish more definitive genotype and phenotype correlations in ASD, we searched genome sequence data, and the literature, fo

Externí odkaz: https://doaj.org/article/54f8fe923ab549de9877b0baef9d1c16

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

Autor: Mustafa Sahin, Jacob A. S. Vorstman, Delnaz Roshandel, Alana Iaboni, Iva Pritišanac, Richard Delorme, Stephen W. Scherer, Marjolaine Willems, Mehdi Zarrei, Lynette Lau, Jennifer L. Howe, Alan M. Moses, Evdokia Anagnostou, Brianna Godlewski, Livia O Loureiro, Miriam S. Reuter, Julie D. Forman-Kay, Anne-Claude Tabet, Siddharth Srivastava, Brett Trost, Suzanne M E Lewis, Christian R. Marshall, Olivia Rennie, Thomas W. Frazier, Peter Szatmari, Thomas Bourgeron, Elizabeth D. Buttermore, Kristina Calli, Stelios Georgiades, Amélie Piton, Dean Hartley, Clarrisa A Lisa Bradley, James Lespinasse, Serge Lumbroso

Publikováno v: NPJ Genomic Medicine
npj Genomic Medicine
npj Genomic Medicine, 2021, 6 (1), pp.91. ⟨10.1038/s41525-021-00254-0⟩
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-12 (2021)

Autism Spectrum Disorder (ASD) is genetically complex with ~100 copy number variants and genes involved. To try to establish more definitive genotype and phenotype correlations in ASD, we searched genome sequence data, and the literature, for recurre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e48688a7ddc5d2a05a696845e9516e9
https://doi.org/10.1038/s41525-021-00254-0

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges

Autor: Suzanne M E Lewis, Leah Tooman, Horacio Osiovich, Margot I. Van Allen, Linlea Armstrong, Harinder Gill, Jan M. Friedman, Jan Christilaw, Millan S. Patel, Ilaria Guella, Lorne A. Clarke, Matthew J. Farrer, Tara Candido, Anna Lehman, Anne Synnes, Alfonso Solimano, Daniel M. Evans, Joseph Ting, Margaret L. McKinnon, Christèle du Souich, William T. Gibson, Sarah M. Nikkel, Alison M. Elliott, Pascal M. Lavoie

Publikováno v: European Journal of Pediatrics. 178:1207-1218

Genetic disorders are one of the leading causes of infant mortality and are frequent in neonatal intensive care units (NICUs). Rapid genome-wide sequencing (GWS; whole genome or exome sequencing (ES)), due to its diagnostic capabilities and immediate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f07d6f522c30aa615fb743b04f294de
https://doi.org/10.1007/s00431-019-03399-4

Whole exome sequencing of families with 1q21.1 microdeletion or microduplication

Autor: Suzanne M E Lewis, Sally Martell, Chansonette Badduke, Wendy P. Robinson, Evica Rajcan-Separovic, Flamingo Tang, David Cowieson, Maria S. Peñaherrera, Allen Volchuk, Ying Qiao

Publikováno v: American Journal of Medical Genetics Part A. 173:1782-1791

Recurrent microduplications/microdeletions of 1q21.1 are characterized by variable phenotypes ranging from normal development to developmental delay (DD) and congenital anomalies. Their interpretation is challenging especially in families with affect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d50ee68025b2f45f81984e8d8fe16d2
https://doi.org/10.1002/ajmg.a.38247

Exome Sequencing and the Management of Neurometabolic Disorders

Autor: David S. Wishart, Bojana Rakic, Casper Shyr, Rupasri Mandal, Maja Tarailo-Graovac, Andre Mattman, Cristina Skrypnyk, Patrice Eydoux, Paul Shekel, Majid Alfadhel, Stuart E. Turvey, Janis M. Dionne, Hilary Vallance, Michelle Demos, A. Mark Evans, Colin J. D. Ross, Anna Lehman, Matthias R. Baumgartner, Jacob Rozmus, Bryan Sayson, Jan M. Friedman, Margaret L. McKinnon, Andrea Superti-Furga, Leo A. J. Kluijtmans, Britt I. Drögemöller, Kathryn Selby, Mary B. Connolly, Gabriella Horvath, Daniel Metzger, Kirk R. Schultz, John K. Wu, Ian Garber, Linlea Armstrong, Jessie M. Cameron, Ramona Salvarinova, Clara D.M. van Karnebeek, Dimitrios I. Zafeiriou, Jiqiang Ling, Ron A. Wevers, Lin Hua Zhang, Jiang Wu, Oluseye A. Ogunbayo, Graham Sinclair, Sylvia Stockler-Ipsiroglu, Suzanne M E Lewis, Margot I. Van Allen, Jessica J. Y. Lee, Wyeth W. Wasserman, Mena Abdelsayed, Peter C. Ruben, Patricie Burda, Aspasia Michoulas, Sandra Sirrs, Saikat Santra, Xin C. Ye, Tammie Dewan, Amit P. Bhavsar

Publikováno v: The New England Journal of Medicine, 374, 2246-2255
Tarailo-Graovac, M, Shyr, C, Ross, C J, Horvath, G A, Salvarinova, R, Ye, X C, Zhang, L-H, Bhavsar, A P, Lee, J J Y, Drögemöller, B I, Abdelsayed, M, Alfadhel, M, Armstrong, L, Baumgartner, M R, Burda, P, Connolly, M B, Cameron, J, Demos, M, Dewan, T, Dionne, J, Evans, A M, Friedman, J M, Garber, I, Lewis, S, Ling, J, Mandal, R, Mattman, A, McKinnon, M, Michoulas, A, Metzger, D, Ogunbayo, O A, Rakic, B, Rozmus, J, Ruben, P, Sayson, B, Santra, S, Schultz, K R, Selby, K, Skehel, P, Sirrs, S, Skrypnyk, C, Superti-Furga, A, Turvey, S E, Van Allen, M I, Wishart, D, Wu, J, Wu, J, Zafeiriou, D, Kluijtmans, L, Wevers, R A, Eydoux, P, Lehman, A M, Vallance, H, Stockler-Ipsiroglu, S, Sinclair, G, Wasserman, W W & van Karnebeek, C D 2016, ' Exome Sequencing and the Management of Neurometabolic Disorders ', New England Journal of Medicine, vol. 374, no. 23, pp. 2246-2255 . https://doi.org/10.1056/NEJMoa1515792
New England journal of medicine, 374(23), 2246-2255. Massachussetts Medical Society
The New England Journal of Medicine, 374, 23, pp. 2246-2255

BACKGROUND: Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Translation into disease-modifying treatments is challenging, particularly for intellectual developmental disorder. However, the exception is inborn err

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1823805f7dbec3d76416ca8041bb3f3f
https://pubmed.ncbi.nlm.nih.gov/27282444