Julie Richer - Concepedia

Author

Julie Richer

Children's Hospital of Eastern Ontario ORCID

Also Known As

J P Richer, J Richer, J. Richer, Julie Richer, Majewski, Jacek

Publications

2.5K

Citations

H-Index

Concepts

All Affiliations

Children's Hospital of Eastern Ontario University of Ottawa McGill University Harvard University University of British Columbia

About

Julie Richer is an author at Children's Hospital of Eastern Ontario specializing in medicine, genetics, and clinical genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	12	646
2	Public Health	3	3	83
3	Health Sciences	2	2	94
4	Natural Sciences	2	2	70
5	Engineering	1	1	10

Julie Richer

Publications

1.7K

Citations

H-Index

Page 1

	Year	Citations
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, Journal of Medical Genetics	2015	228
A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i> Dorien Schepers, Giada Tortora, Hiroko Morisaki, Human Mutation	2018	160
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, PubMed Hprb RatiosPr IsoformsHprb ExpressionSelective Down-regulationHormonal Receptor	1998	133
The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results Yvonne Bombard, Kyle B. Brothers, Sara Fitzgerald‐Butt, The American Journal of Human Genetics Genetic TestingRecontact Research ParticipantsGeneticsBioethicsGenetic Counseling	2019	123
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, Genetics in Medicine	2016	119
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit Hussein Daoud, Stephanie M. Luco, Rui Li, Canadian Medical Association Journal	2016	100
<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari, Human Mutation Lysosomal Storage DiseaseGeneticsImmunodeficienciesGenetic EpidemiologySmc3 Mutation	2015	88
Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases Erika Kleiderman, Bartha Maria Knoppers, Conrad V. Fernandez, Journal of Medical Ethics	2013	82
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations Ellen S. Regalado, Lauren Mellor-Crummey, Julie De Backer, Genetics in Medicine Muscle FunctionVascular MalformationNeuromuscular BlockadeKinesiologyVascular Surgery	2018	80
R179H mutation in ACTA2 expanding the phenotype to include prune‐belly sequence and skin manifestations Julie Richer, Dianna M. Milewicz, Robert M. Gow, American Journal of Medical Genetics Part A	2012	64

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