Zobrazeno 1 - 10
of 66
pro vyhledávání: '"A. C. Lionel"'
Autor:
Eric Deneault, Sean H. White, Deivid C. Rodrigues, P. Joel Ross, Muhammad Faheem, Kirill Zaslavsky, Zhuozhi Wang, Roumiana Alexandrova, Giovanna Pellecchia, Wei Wei, Alina Piekna, Gaganjot Kaur, Jennifer L. Howe, Vickie Kwan, Bhooma Thiruvahindrapuram, Susan Walker, Anath C. Lionel, Peter Pasceri, Daniele Merico, Ryan K.C. Yuen, Karun K. Singh, James Ellis, Stephen W. Scherer
Publikováno v:
Stem Cell Reports, Vol 11, Iss 5, Pp 1211-1225 (2018)
Summary: Autism spectrum disorder (ASD) is phenotypically and genetically heterogeneous. We present a CRISPR gene editing strategy to insert a protein tag and premature termination sites creating an induced pluripotent stem cell (iPSC) knockout resou
Externí odkaz:
https://doaj.org/article/ed565f4bc9134ec99bc3339f9bae9c35
Autor:
Chelsea Lowther, Daniele Merico, Gregory Costain, Jack Waserman, Kerry Boyd, Abdul Noor, Marsha Speevak, Dimitri J. Stavropoulos, John Wei, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Anne S. Bassett
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-13 (2017)
Abstract Background Schizophrenia is a severe psychiatric disorder associated with IQ deficits. Rare copy number variations (CNVs) have been established to play an important role in the etiology of schizophrenia. Several of the large rare CNVs associ
Externí odkaz:
https://doaj.org/article/62f6a991b9d94a59827e90072a65c480
Publikováno v:
European Journal of Haematology. 109:166-181
Effective treatments for hematologic malignancies include therapies that target tyrosine kinase (TK) signaling pathways. Tumor lysis syndrome (TLS) is an oncologic emergency that can occur due to rapid turnover following the initiation of treatments
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2528cac89f4fd1dcb6e2b0397328967c
https://doi.org/10.1111/ejh.13786
https://doi.org/10.1111/ejh.13786
Autor:
Siti Shuhada Mokhtar, Christian R Marshall, Maude E Phipps, Bhooma Thiruvahindrapuram, Anath C Lionel, Stephen W Scherer, Hoh Boon Peng
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e100371 (2014)
Copy number variation (CNV) has been recognized as a major contributor to human genome diversity. It plays an important role in determining phenotypes and has been associated with a number of common and complex diseases. However CNV data from diverse
Externí odkaz:
https://doaj.org/article/e4367fcc4bc249f391c65c94833a95dc
Autor:
Hyun Ji Noh, Chris P Ponting, Hannah C Boulding, Stephen Meader, Catalina Betancur, Joseph D Buxbaum, Dalila Pinto, Christian R Marshall, Anath C Lionel, Stephen W Scherer, Caleb Webber
Publikováno v:
PLoS Genetics, Vol 9, Iss 6, p e1003523 (2013)
Autism Spectrum Disorders (ASD) are highly heritable and characterised by impairments in social interaction and communication, and restricted and repetitive behaviours. Considering four sets of de novo copy number variants (CNVs) identified in 181 in
Externí odkaz:
https://doaj.org/article/fb31c2e77b0f4cce9f9517e06dcbc7bf
Autor:
Candice K Silversides, Anath C Lionel, Gregory Costain, Daniele Merico, Ohsuke Migita, Ben Liu, Tracy Yuen, Jessica Rickaby, Bhooma Thiruvahindrapuram, Christian R Marshall, Stephen W Scherer, Anne S Bassett
Publikováno v:
PLoS Genetics, Vol 8, Iss 8, p e1002843 (2012)
Structural genetic changes, especially copy number variants (CNVs), represent a major source of genetic variation contributing to human disease. Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease, but to date littl
Externí odkaz:
https://doaj.org/article/d9ef3e8663384bada125139bcf4f3877
Autor:
Ronald D. Cohn, Michal Inbar-Feigenberg, Christoph Licht, Sarah Bowdin, Dimitri J. Stavropoulos, Rosanna Weksberg, Gregory Costain, Sharon D. Dell, Cheryl Shuman, Wilson W L Sung, Rebekah Jobling, Ronald M. Laxer, Regan Klatt, Giovanna Pellecchia, Stacy Hewson, Zhuozhi Wang, Cyrus Boelman, Saadet Mercimek-Andrews, Anath C. Lionel, Roberto Mendoza-Londono, M. Stephen Meyn, Linda T. Hiraki, Rayfel Schneider, Nasim Monfared, Robin Z. Hayeems, Susan Walker, Christian R. Marshall, Komudi Siriwardena, Jonathan B. Kronick, Melissa T. Carter, Jonathan D. Wasserman, Priya Dhir, Neal Sondheimer, Stephen W. Scherer, Peter N. Ray, Thomas Nalpathamkalam, Dawn Cordeiro, Earl D. Silverman, Michael J. Szego, S. Mohsen Hosseini, Elise Heon, Ajoy Vincent, Andreas Schulze, James J. Dowling, Bhooma Thiruvahindrapuram, Peter Bikangaga, Joanne Sutherland, Heather MacDonald, Cheryl Cytrynbaum, Daniele Merico, Raveen K. Basran, Tino D. Piscione, O. Carter Snead, Miriam S. Reuter, Chris Carew
Publikováno v:
Genetics in Medicine
Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard of care is often a time-consuming stepwise approach involving chromosomal microarray analysis and targeted gene sequencing panels, which can be costly and inc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78de18969f97867df7734393ef4728c8
https://doi.org/10.1038/gim.2017.119
https://doi.org/10.1038/gim.2017.119
Autor:
Jennifer L. Howe, Vickie Kwan, Kirill Zaslavsky, James Ellis, Anath C. Lionel, Gaganjot Kaur, Deivid C. Rodrigues, Zhuozhi Wang, Daniele Merico, Muhammad Faheem, Alina Piekna, Ryan K. C. Yuen, Karun K. Singh, Bhooma Thiruvahindrapuram, Roumiana Alexandrova, Susan Walker, Giovanna Pellecchia, Eric Deneault, Stephen W. Scherer, P. Joel Ross, Sean H. White, Peter Pasceri, Wei Wei
Publikováno v:
Stem Cell Reports, Vol 11, Iss 5, Pp 1211-1225 (2018)
Stem Cell Reports
Stem Cell Reports
Summary Autism spectrum disorder (ASD) is phenotypically and genetically heterogeneous. We present a CRISPR gene editing strategy to insert a protein tag and premature termination sites creating an induced pluripotent stem cell (iPSC) knockout resour
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc41aaecc8cec3f42dc37670dccd5f6e
https://doi.org/10.1016/j.stemcr.2019.01.008
https://doi.org/10.1016/j.stemcr.2019.01.008
Sex Differences in Anemia and Red Blood Cell Transfusions Among General Internal Medicine Inpatients
Autor:
Katerina Pavenski, Fahad Razak, Riley Waters, Amol A. Verma, Michelle Sholzberg, Anath C. Lionel
Publikováno v:
Blood. 138:1074-1074
Background: Epidemiological data from the general population have shown that women have lower hemoglobin values compared to men. Previous research on surgical patients showed that women were significantly more likely to receive red blood cell (RBC) t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f708ab920669a99f77d2911b9aed9e31
https://doi.org/10.1182/blood-2021-154106
https://doi.org/10.1182/blood-2021-154106
Autor:
Christian R. Marshall, Dimitri J. Stavropoulos, Riyana Babul-Hirji, Stephen W. Scherer, David Chitayat, Susan Walker, Resham Ejaz, Susan Blaser, Anath C. Lionel
Publikováno v:
American Journal of Medical Genetics Part A. 173:2725-2730
Disorders of brain formation can occur from pathogenic variants in various alpha and beta tubulin genes. Heterozygous pathogenic variants in the beta tubulin isotype A gene, TUBB2A, have been recently implicated in brain malformations, seizures, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cfec4798d903c57f0686fc72a75c0b4
https://doi.org/10.1002/ajmg.a.38352
https://doi.org/10.1002/ajmg.a.38352