Complex genetic architecture in severe hypobetalipoproteinemia

por Wang, Linda R., McIntyre, Adam D., Hegele, Robert A.
Publicado 2018

Severe Combined Dyslipidemia With a Complex Genetic Basis

por Le, Ryan, Abbas, Minan, McIntyre, Adam D., Hegele, Robert A.
Publicado 2019

Whole-exome sequencing identifies a novel IHH insertion in an Ontario family with brachydactyly type A1

por Ho, Rosettia, McIntyre, Adam D, Kennedy, Brooke A, Hegele, Robert A
Publicado 2018

SUN-593 Variants in Known Monogenic Causal Genes of Hypertriglyceridemia Are Not Major Contributors for Hypertriglyceridemia in Lipodystrophy Due to a LMNA Mutation

por Ueda, Masako, McIntyre, Adam D, Remaley, Alan T, Hegele, Robert A, Rader, Daniel J
Publicado 2020

A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome

por Wang, Linda R., Radonjic, Aleksandar, Dilliott, Allison A., McIntyre, Adam D., Hegele, Robert A.
Publicado 2018

Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene

por Soto, Angela Ganan, McIntyre, Adam, Agrawal, Sungeeta, Bialo, Shara R., Hegele, Robert A., Boney, Charlotte M.
Publicado 2015

Genetic Determinants of Myocardial Infarction Risk in Familial Hypercholesterolemia

por Zhao, Pei Jun, Ban, Matthew R., Iacocca, Michael A., McIntyre, Adam D., Wang, Jian, Hegele, Robert A.
Publicado 2019

Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia

por Iacocca, Michael A., Wang, Jian, Dron, Jacqueline S., Robinson, John F., McIntyre, Adam D., Cao, Henian, Hegele, Robert A.
Publicado 2017

Bioinformatic detection of copy number variation in HNF4A causing maturity onset diabetes of the young

por Berberich, Amanda J., Mokashi, Arati, McIntyre, Adam D., Robinson, John F., Cao, Henian, Wang, Jian, Hegele, Robert A.
Publicado 2019

Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings

por Vlasschaert, Caitlyn, McIntyre, Adam D., Thomson, Lauren A., Kennedy, Brooke A., Ratko, Suzanne, Prasad, Chitra, Hegele, Robert A.
Publicado 2021

Six years’ experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias

por Dron, Jacqueline S., Wang, Jian, McIntyre, Adam D., Iacocca, Michael A., Robinson, John F., Ban, Matthew R., Cao, Henian, Hegele, Robert A.
Publicado 2020

Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype

por Volkening, Kathryn, Farhan, Sali M. K., Kao, Jessica, Leystra-Lantz, Cheryl, Ang, Lee Cyn, McIntyre, Adam, Wang, Jian, Hegele, Robert A., Strong, Michael J.
Publicado 2021

Evaluating Polygenic Risk Scores in “Lone” Atrial Fibrillation

por Lazarte, Julieta, Dron, Jacqueline S., McIntyre, Adam D., Skanes, Allan C., Gula, Lorne J., Tang, Anthony S., Tadros, Rafik, Laksman, Zachary W., Hegele, Robert A., Roberts, Jason D.
Publicado 2021

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias

por Johansen, Christopher T., Dubé, Joseph B., Loyzer, Melissa N., MacDonald, Austin, Carter, David E., McIntyre, Adam D., Cao, Henian, Wang, Jian, Robinson, John F., Hegele, Robert A.
Publicado 2014

OR21-3 Familial Chylomicronemia Syndrome: Distinguishing the Rare Among the Common in Adults for Appropriate Management

por Ueda, Masako, Burke, Frances, Sviridov, Denis, Escobar, Maria, Walters, Laura, Lalic, Dusanka, Sikora, Tracey, Greene, Harley, DerOhannessian, Stephanie, McIntyre, Adam, deGoma, Emil, Remaley, Alan, Hegele, Robert, Rader, Daniel, Dunbar, Richard
Publicado 2019

Polygenic determinants in extremes of high-density lipoprotein cholesterol

por Dron, Jacqueline S., Wang, Jian, Low-Kam, Cécile, Khetarpal, Sumeet A., Robinson, John F., McIntyre, Adam D., Ban, Matthew R., Cao, Henian, Rhainds, David, Dubé, Marie-Pierre, Rader, Daniel J., Lettre, Guillaume, Tardif, Jean-Claude, Hegele, Robert A.
Publicado 2017

The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration

por Farhan, Sali M K, Dilliott, Allison A, Ghani, Mahdi, Sato, Christine, Liang, Eric, Zhang, Ming, McIntyre, Adam D, Cao, Henian, Racacho, Lemuel, Robinson, John F, Strong, Michael J, Masellis, Mario, St George-Hyslop, Peter, Bulman, Dennis E, Rogaeva, Ekaterina, Hegele, Robert A
Publicado 2016

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

por Dilliott, Allison A., Farhan, Sali M.K., Ghani, Mahdi, Sato, Christine, Liang, Eric, Zhang, Ming, McIntyre, Adam D., Cao, Henian, Racacho, Lemuel, Robinson, John F., Strong, Michael J., Masellis, Mario, Bulman, Dennis E., Rogaeva, Ekaterina, Lang, Anthony, Tartaglia, Carmela, Finger, Elizabeth, Zinman, Lorne, Turnbull, John, Freedman, Morris, Swartz, Rick, Black, Sandra E., Hegele, Robert A.
Publicado 2018

Contribution of rare variant associations to neurodegenerative disease presentation

por Dilliott, Allison A., Abdelhady, Abdalla, Sunderland, Kelly M., Farhan, Sali M. K., Abrahao, Agessandro, Binns, Malcolm A., Black, Sandra E., Borrie, Michael, Casaubon, Leanne K., Dowlatshahi, Dar, Finger, Elizabeth, Fischer, Corinne E., Frank, Andrew, Freedman, Morris, Grimes, David, Hassan, Ayman, Jog, Mandar, Kumar, Sanjeev, Kwan, Donna, Lang, Anthony E., Mandzia, Jennifer, Masellis, Mario, McIntyre, Adam D., Pasternak, Stephen H., Pollock, Bruce G., Rajji, Tarek K., Rogaeva, Ekaterina, Sahlas, Demetrios J., Saposnik, Gustavo, Sato, Christine, Seitz, Dallas, Shoesmith, Christen, Steeves, Thomas D. L., Swartz, Richard H., Tan, Brian, Tang-Wai, David F., Tartaglia, Maria C., Turnbull, John, Zinman, Lorne, Hegele, Robert A.
Publicado 2021