A novel MC4R mutation associated with childhood-onset obesity: A case report

Por Doulla, Manpreet, McIntyre, Adam D, Hegele, Robert A, Gallego, Patricia H
Publicado no Paediatr Child Health (2014)

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 no Lipids Health Dis (2015)

A common hypofunctional genetic variant of GPER is associated with increased blood pressure in women

Por Feldman, Ross D, Gros, Robert, Ding, Qingming, Hussain, Yasin, Ban, Matthew R, McIntyre, Adam D, Hegele, Robert A
Publicado no Br J Clin Pharmacol (2014)

Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation

Por Marcadier, Julien L., Boland, Margaret, Scott, C. Ronald, Issa, Kheirie, Wu, Zaining, McIntyre, Adam D., Hegele, Robert A., Geraghty, Michael T., Lines, Matthew A.
Publicado no CMAJ (2015)

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 em 2014

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia

Por Joshi, Mugdha, Eagan, Jacqueline, Desai, Nirav K, Newton, Stephanie A, Towne, Meghan C, Marinakis, Nicholas S, Esteves, Kristyn M, De Ferranti, Sarah, Bennett, Michael J, McIntyre, Adam, Beggs, Alan H, Berry, Gerard T, Agrawal, Pankaj B
Publicado em 2014

The common LDLR p.G116S variant has a large effect on plasma LDL cholesterol in circumpolar Inuit populations

Por Dubé, Joseph B., Wang, Jian, Cao, Henian, McIntyre, Adam, Johansen, Christopher T., Hopkins, Scarlett E., Stringer, Randa, Hosseinzadeh, Siyavash, Kennedy, Brooke A., Ban, Matthew R., Young, T. Kue, Connelly, Philip W., Dewailly, Eric, Bjerregaard, Peter, Boyer, Bert B., Hegele, Robert A.
Publicado no Circ Cardiovasc Genet (2014)

Excess of Rare Variants in Non-GWAS Candidate Genes in Patients with Hypertriglyceridemia

Por Johansen, Christopher T., Wang, Jian, McIntyre, Adam D., Martins, Rebecca A., Ban, Matthew R., Lanktree, Matthew B., Huff, Murray W., Péterfy, Miklós, Mehrabian, Margarete, Lusis, Aldons J., Kathiresan, Sekar, Anand, Sonia S., Yusuf, Salim, Lee, Ann-Hwee, Glimcher, Laurie H., Cao, Henian, Hegele, Robert A.
Publicado em 2011

Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1

Por Basel-Vanagaite, Lina, Zevit, Noam, Zahav, Adi Har, Guo, Liang, Parathath, Saj, Pasmanik-Chor, Metsada, McIntyre, Adam D., Wang, Jian, Albin-Kaplanski, Adi, Hartman, Corina, Marom, Daphna, Zeharia, Avraham, Badir, Abir, Shoerman, Oded, Simon, Amos J., Rechavi, Gideon, Shohat, Mordechai, Hegele, Robert A., Fisher, Edward A., Shamir, Raanan
Publicado em 2012

Mutation skew in genes identified by genome-wide association study of hypertriglyceridemia

Por Johansen, Christopher T., Wang, Jian, Lanktree, Matthew B., Cao, Henian, McIntyre, Adam D., Ban, Matthew R., Martins, Rebecca A., Kennedy, Brooke A., Hassell, Reina G., Visser, Maartje E., Schwartz, Stephen M., Voight, Benjamin F., Elosua, Roberto, Salomaa, Veikko, O'Donnell, Christopher J., Dallinga-Thie, Geesje M., Anand, Sonia S., Yusuf, Salim, Huff, Murray W., Kathiresan, Sekar, Hegele, Robert A.
Publicado em 2010

An Increased Burden of Common and Rare Lipid-Associated Risk Alleles Contributes to the Phenotypic Spectrum of Hypertriglyceridemia

Por Johansen, Christopher T., Wang, Jian, Lanktree, Matthew B., McIntyre, Adam D., Ban, Matthew R., Martins, Rebecca A., Kennedy, Brooke A., Hassell, Reina G., Visser, Maartje E., Schwartz, Stephen M., Voight, Benjamin F., Elosua, Roberto, Salomaa, Veikko, O’Donnell, Christopher J., Dallinga-Thie, Geesje M., Anand, Sonia S., Yusuf, Salim, Huff, Murray W., Kathiresan, Sekar, Cao, Henian, Hegele, Robert A.
Publicado em 2011

Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function

Por Zeissig, Sebastian, Dougan, Stephanie K., Barral, Duarte C., Junker, Yvonne, Chen, Zhangguo, Kaser, Arthur, Ho, Madelyn, Mandel, Hannah, McIntyre, Adam, Kennedy, Susan M., Painter, Gavin F., Veerapen, Natacha, Besra, Gurdyal S., Cerundolo, Vincenzo, Yue, Simon, Beladi, Sarah, Behar, Samuel M., Chen, Xiuxu, Gumperz, Jenny E., Breckpot, Karine, Raper, Anna, Baer, Amanda, Exley, Mark A., Hegele, Robert A., Cuchel, Marina, Rader, Daniel J., Davidson, Nicholas O., Blumberg, Richard S.
Publicado em 2010