Zobrazeno 1 - 10
of 104
pro vyhledávání: '"John F. Robinson"'
Autor:
Jacqueline S. Dron, Jian Wang, Adam D. McIntyre, Michael A. Iacocca, John F. Robinson, Matthew R. Ban, Henian Cao, Robert A. Hegele
Publikováno v:
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-15 (2020)
Abstract Background In 2013, our laboratory designed a targeted sequencing panel, “LipidSeq”, to study the genetic determinants of dyslipidemia and metabolic disorders. Over the last 6 years, we have analyzed 3262 patient samples obtained from ou
Externí odkaz:
https://doaj.org/article/28dc19075a0641c6a6292868b5ae2c58
Autor:
Jacqueline S. Dron, Jian Wang, Adam D. McIntyre, Henian Cao, John F. Robinson, P. Barton Duell, Priya Manjoo, James Feng, Irina Movsesyan, Mary J. Malloy, Clive R. Pullinger, John P. Kane, Robert A. Hegele
Publikováno v:
Journal of Lipid Research, Vol 60, Iss 11, Pp 1953-1958 (2019)
Severe hypertriglyceridemia (HTG) is a relatively common form of dyslipidemia with a complex pathophysiology and serious health complications. HTG can develop in the presence of rare genetic factors disrupting genes involved in the triglyceride (TG)
Externí odkaz:
https://doaj.org/article/cdf329801bed4b7895839adade6cadb7
Autor:
Markus Gulilat, Tyler Lamb, Wendy A. Teft, Jian Wang, Jacqueline S. Dron, John F. Robinson, Rommel G. Tirona, Robert A. Hegele, Richard B. Kim, Ute I. Schwarz
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-17 (2019)
Abstract Background Targeted next-generation sequencing (NGS) enables rapid identification of common and rare genetic variation. The detection of variants contributing to therapeutic drug response or adverse effects is essential for implementation of
Externí odkaz:
https://doaj.org/article/5ed343e32f6a4b0aacc825a9dc049fdc
Autor:
Robin Liu, BSc, Jiahui Cheng, Carlos Muzlera, BSc, John F. Robinson, BSc, Matthew R. Ban, BSc, Robert A. Hegele, MD
Publikováno v:
CJC Open, Vol 1, Iss 2, Pp 69-75 (2019)
Background: Coronary artery disease (CAD) risk traditionally has been assessed using clinical risk factors. We evaluated whether molecular genetic markers for CAD risk could add information to traditional variables. Methods: We developed a false disc
Externí odkaz:
https://doaj.org/article/ebb37bf0889c4ffa9b197dbf83257e20
Autor:
Jacqueline S. Dron, Jian Wang, Cécile Low-Kam, Sumeet A. Khetarpal, John F. Robinson, Adam D. McIntyre, Matthew R. Ban, Henian Cao, David Rhainds, Marie-Pierre Dubé, Daniel J. Rader, Guillaume Lettre, Jean-Claude Tardif, Robert A. Hegele
Publikováno v:
Journal of Lipid Research, Vol 58, Iss 11, Pp 2162-2170 (2017)
HDL cholesterol (HDL-C) remains a superior biochemical predictor of CVD risk, but its genetic basis is incompletely defined. In patients with extreme HDL-C concentrations, we concurrently evaluated the contributions of multiple large- and small-effec
Externí odkaz:
https://doaj.org/article/7b43580fc25d40829bb71de0014a9f87
Autor:
Michael A. Iacocca, Jian Wang, Jacqueline S. Dron, John F. Robinson, Adam D. McIntyre, Henian Cao, Robert A. Hegele
Publikováno v:
Journal of Lipid Research, Vol 58, Iss 11, Pp 2202-2209 (2017)
Familial hypercholesterolemia (FH) is a heritable condition of severely elevated LDL cholesterol, caused predominantly by autosomal codominant mutations in the LDL receptor gene (LDLR). In providing a molecular diagnosis for FH, the current procedure
Externí odkaz:
https://doaj.org/article/d4c75bf63dba444289c49025dd44bc2b
Autor:
Christopher T. Johansen, Joseph B. Dubé, Melissa N. Loyzer, Austin MacDonald, David E. Carter, Adam D. McIntyre, Henian Cao, Jian Wang, John F. Robinson, Robert A. Hegele
Publikováno v:
Journal of Lipid Research, Vol 55, Iss 4, Pp 765-772 (2014)
We report the design of a targeted resequencing panel for monogenic dyslipidemias, LipidSeq, for the purpose of replacing Sanger sequencing in the clinical detection of dyslipidemia-causing variants. We also evaluate the performance of the LipidSeq a
Externí odkaz:
https://doaj.org/article/85f9d133084842979e7756100363a79d
Autor:
Sali M. K. Farhan, Jian Wang, John F. Robinson, Piya Lahiry, Victoria M. Siu, Chitra Prasad, Jonathan B. Kronick, David A. Ramsay, C. Anthony Rupar, Robert A. Hegele
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 2, Iss 1, Pp 73-80 (2014)
Abstract Iron‐sulfur (Fe‐S) clusters are a class of highly conserved and ubiquitous prosthetic groups with unique chemical properties that allow the proteins that contain them, Fe‐S proteins, to assist in various key biochemical pathways. Mutat
Externí odkaz:
https://doaj.org/article/1eb51256fe8f4b6ca24045e47c3b068a
Autor:
Nicolas, Iragorri, Danielle, Toccalino, Sujata, Mishra, Brian Cf, Chan, Allison A, Dilliott, John F, Robinson, Robert A, Hegele, Rebecca, Hancock-Howard
Publikováno v:
J Community Genet
Alzheimer’s f disease (AD) affects approximately 250,000 Ontarians, a number that is expected to double by 2040. The Ontario Neurodegenerative Disease Research Initiative has developed an in-province genetic test (ONDRISeq), which currently runs in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::040e7d2d0f2aaf5f6e56eac103c7e852
https://doi.org/10.1007/s12687-022-00619-7
https://doi.org/10.1007/s12687-022-00619-7
Autor:
Kelly M, Sunderland, Derek, Beaton, Stephen R, Arnott, Peter, Kleinstiver, Donna, Kwan, Jane M, Lawrence-Dewar, Joel, Ramirez, Brian, Tan, Robert, Bartha, Sandra E, Black, Michael, Borrie, Donald, Brien, Leanne K, Casaubon, Brian C, Coe, Benjamin, Cornish, Allison A, Dilliott, Dar, Dowlatshahi, Elizabeth, Finger, Corinne, Fischer, Andrew, Frank, Julia, Fraser, Morris, Freedman, Barry, Greenberg, David A, Grimes, Ayman, Hassan, Wendy, Hatch, Robert A, Hegele, Christopher, Hudson, Mandar, Jog, Sanjeev, Kumar, Anthony, Lang, Brian, Levine, Wendy, Lou, Jennifer, Mandzia, Connie, Marras, William, McIlroy, Manuel, Montero-Odasso, David G, Munoz, Douglas P, Munoz, Joseph B, Orange, David S, Park, Stephen H, Pasternak, Frederico, Pieruccini-Faria, Tarek K, Rajji, Angela C, Roberts, John F, Robinson, Ekaterina, Rogaeva, Demetrios J, Sahlas, Gustavo, Saposnik, Christopher J M, Scott, Dallas, Seitz, Christen, Shoesmith, Thomas D L, Steeves, Michael J, Strong, Stephen C, Strother, Richard H, Swartz, Sean, Symons, David F, Tang-Wai, Maria Carmela, Tartaglia, Angela K, Troyer, John, Turnbull, Lorne, Zinman, Paula M, McLaughlin, Mario, Masellis, Malcolm A, Binns, Guangyong, Zou
Publikováno v:
Alzheimer's & Dementia. 19:226-243
Understanding synergies between neurodegenerative and cerebrovascular pathologies that modify dementia presentation represents an important knowledge gap.This multi-site, longitudinal, observational cohort study recruited participants across prevalen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b08e5d9a90df7418ec42065cd1f73856
https://doi.org/10.1002/alz.12632
https://doi.org/10.1002/alz.12632