Julie Richer

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

Kym M. Boycott, Taila Hartley, Shelin Adam et al. · Journal of Medical Genetics · 2015 · 228 citations · Full text

A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i>

Dorien Schepers, Giada Tortora, Hiroko Morisaki et al. · Human Mutation · 2018 · 160 citations · Full text

Selective down-regulation of progesterone receptor isoform B in poorly differentiated human endometrial cancer cells: implications for unopposed estrogen action.

Nitish Kumar, Julie Richer, Gareth I. Owen et al. · PubMed · 1998 · 133 citations

Hprb Ratios, Pr Isoforms, Hprb Expression +12

The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results

Yvonne Bombard, Kyle B. Brothers, Sara Fitzgerald‐Butt et al. · The American Journal of Human Genetics · 2019 · 123 citations · Full text

Genetic Testing, Recontact Research Participants, Genetics +7

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

Josephina Meester, Geert Vandeweyer, Isabel Pintelon et al. · Genetics in Medicine · 2016 · 119 citations · Full text