Whole genome sequencing in the clinic: empowerment or too much information?

por Berberich, Amanda J., Ho, Rosettia, Hegele, Robert A.
Publicado en CMAJ (2018)

SEVERE HYPERCALCEMIA SECONDARY TO PARAFFIN OIL INJECTIONS IN A BODYBUILDER WITH SIGNIFICANT FINDINGS ON SCINTIGRAPHY

por Khanna, Parul, Khatami, Alireza, Swiha, Mina, Rachinsky, Irina, Kassam, Zahra, Berberich, Amanda J.
Publicado en AACE Clin Case Rep (2020)

High aldosterone, hypertension and adrenal adenoma in a 36-year-old pregnant patient: Is this primary aldosteronism?

por Berberich, Amanda J, Penava, Deborah, Sun, Dongmei, MacDougall, Arlene, Lum, Andrea, Van Uum, Stan
Publicado en Obstet Med (2018)

Copy Number Variation in GCK in Patients With Maturity-Onset Diabetes of the Young

por Berberich, Amanda J, Huot, Céline, Cao, Henian, McIntyre, Adam D, Robinson, John F, Wang, Jian, Hegele, Robert A
Publicado en J Clin Endocrinol Metab (2019)

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 en Clin Genet (2019)

Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia

por Dron, Jacqueline S., Wang, Jian, Berberich, Amanda J., Iacocca, Michael A., Cao, Henian, Yang, Ping, Knoll, Joan, Tremblay, Karine, Brisson, Diane, Netzer, Christian, Gouni-Berthold, Ioanna, Gaudet, Daniel, Hegele, Robert A.
Publicado en J Lipid Res (2018)