Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Suzanne M E Lewis"'
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
Autor:
Melissa T Carter, Myriam Srour, Ping-Yee Billie Au, Daniela Buhas, Sarah Dyack, Alison Eaton, Michal Inbar-Feigenberg, Heather Howley, Anne Kawamura, Suzanne M E Lewis, Elizabeth McCready, Tanya N Nelson, Hilary Vallance
Publikováno v:
Journal of Medical Genetics. 60:523-532
Purpose and scopeThe aim of this position statement is to provide recommendations for clinicians regarding the use of genetic and metabolic investigations for patients with neurodevelopmental disorders (NDDs), specifically, patients with global devel
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)
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
Autor:
Sally Martell, Ying Qiao, Evica Rajcan-Separovic, Kristina Calli, Simone Race, Stephen W. Scherer, Jasleen Dhaliwal, Armansa Glodjo, Steven J.M. Jones, Chieko Chijiwa, Suzanne M E Lewis
Publikováno v:
Genes, Vol 12, Iss 1053, p 1053 (2021)
Genes
Volume 12
Issue 7
Genes
Volume 12
Issue 7
Autism Spectrum Disorder (ASD) is the most common neurodevelopmental disorder in children and shows high heritability. However, how inherited variants contribute to ASD in multiplex families remains unclear. Using whole-genome sequencing (WGS) in a f
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
Autor:
Laura Arbour, Suzanne M E Lewis, Sally Martell, Mary B. Connolly, Hani Bagheri, Ying Qiao, Wendy P. Robinson, Flamingo Tang, Evica Rajcan-Separovic, Chansonette Badduke
Publikováno v:
European Journal of Medical Genetics. 62:103-108
The clinical significance of Xp22.31 microduplication is controversial as it is reported in subjects with developmental delay (DD), their unaffected relatives and unrelated controls. We performed multifaceted studies in a family of a boy with hypoton
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
Autor:
Saskia M. Maas, Irene Madrigal, David A. Sweetser, I. M. Krzyzewska, Hyung-Goo Kim, Anna Chassevent, Hirotomo Saitsu, Peter Henneman, E. Rajcan-Separovic, Erfan Aref-Eshghi, Marielle Alders, Sonal Mahida, Audrey Labalme, T. Fukuda, Marie-Line Jacquemont, Karin van der Lip, Raquel Rabionet, Bekim Sadikovic, Suzanne M E Lewis, Marcel M.A.M. Mannens, Andrea Venema, A. J. van Essen, Gaetan Lesca, H. Ikeda, Naomichi Matsumoto, Ying Qiao, Kristin W. Barañano
Publikováno v:
CLINICAL EPIGENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Clinical epigenetics, 11(1). Springer Verlag
Clinical Epigenetics, 11(1):156. BMC
Paediatrics Publications
Dipòsit Digital de la UB
Universidad de Barcelona
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Clinical Epigenetics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Clinical epigenetics, 11(1). Springer Verlag
Clinical Epigenetics, 11(1):156. BMC
Paediatrics Publications
Dipòsit Digital de la UB
Universidad de Barcelona
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Clinical Epigenetics
SETD1B is a component of a histone methyltransferase complex that specifically methylates Lys-4 of histone H3 (H3K4) and is responsible for the epigenetic control of chromatin structure and gene expression. De novo microdeletions encompassing this ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e332022a73f6201466784859808986e
https://clinicalepigeneticsjournal.biomedcentral.com/track/pdf/10.1186/s13148-019-0749-3.pdf
https://clinicalepigeneticsjournal.biomedcentral.com/track/pdf/10.1186/s13148-019-0749-3.pdf
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
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
Autor:
Mark O'Driscoll, Anna Lehman, Xianghong Shan, Bruno Maranda, Cheryl Y. Gregory-Evans, Małgorzata J.M. Nowaczyk, Ying Qiao, Chansonette Badduke, Rita Colnaghi, Jiadi Wen, Robert S. Wildin, Jennifer Eichmeyer, Iga Abramowicz, Diana Alcantara, Christopher Dunham, Suzanne M E Lewis, Sally Martell, Hani Bagheri, Evica Rajcan-Separovic
Publikováno v:
JCI Insight, Vol 1, Iss 3 (2016)
The 2p15p16.1 microdeletion syndrome has a core phenotype consisting of intellectual disability, microcephaly, hypotonia, delayed growth, common craniofacial features, and digital anomalies. So far, more than 20 cases of 2p15p16.1 microdeletion syndr