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Julie Richer

Explore the profile of Julie Richer including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 46
Citations 691
Followers 0
Related Specialties
Genetics
Neurology
Pediatrics
Top 10 Co-Authors
Kym M Boycott
Anne-Marie Laberge
Christine M Armour
David A Dyment
Taila Hartley
Jacek Majewski
Andrea Guerin
Michael T Geraghty
Aline Verstraeten
Kristin D Kernohan
Published In
Am J Med Genet A
Genet Med
J Med Genet
Am J Hum Genet
Hum Mutat
Affiliations
Soon will be listed here.
Recent Articles
1.
Sexual dimorphism in pathogenic variant-harbouring individuals
Richer J, Velchev J, Goobie S, Boswell-Patterson C, van de Laar I, Verhagen J, et al.
J Med Genet . 2025 Jan; 62(3):199-205. PMID: 39746778
Background: Individuals harbouring pathogenic variants are at risk for aneurysms/dissections throughout the arterial tree. Based on prior reports of sex differences in thoracic aortic aneurysm/dissection, we investigated the sexual dimorphism...
2.
Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing
Goh E, Chad L, Richer J, Bombard Y, Mighton C, Agatep R, et al.
J Med Genet . 2024 Oct; 61(12):1123-1131. PMID: 39362754
Background: Advances in technology and knowledge have facilitated both an increase in the number of patient variants reported and variants reclassified. While there is currently no duty to recontact for...
3.
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations
Haghshenas S, Karimi K, Stevenson R, Levy M, Relator R, Kerkhof J, et al.
Am J Hum Genet . 2024 Aug; 111(8):1643-1655. PMID: 39089258
The term "recurrent constellations of embryonic malformations" (RCEM) is used to describe a number of multiple malformation associations that affect three or more body structures. The causes of these disorders...
4.
Imaging Review of Pediatric Monogenic CNS Vasculopathy with Genetic Correlation
Gupta N, Miller E, Bhatia A, Richer J, Aviv R, Wilson N
Radiographics . 2024 Apr; 44(5):e230087. PMID: 38573816
Monogenic cerebral vasculopathy is a rare but progressively recognizable cause of pediatric cerebral vasculopathy manifesting as early as fetal life. These monogenic cerebral vasculopathies can be silent or manifest variably...
5.
The Aortic Team Model and Collaborative Decision Pathways for the Management of Complex Aortic Disease: Clinical Practice Update From the Canadian Cardiovascular Society/Canadian Society of Cardiac Surgeons/Canadian Society for Vascular...
McClure R, Lindsay T, Keir M, Bayne J, Berry R, Chu M, et al.
Can J Cardiol . 2023 Nov; 39(11):1484-1498. PMID: 37949520
Disease of the aortic arch, descending thoracic, or thoracoabdominal aorta necessitates dedicated expertise across medical, endovascular, and surgical specialties. Cardiologists, cardiac surgeons, vascular surgeons, interventional radiologists, and others have expertise...
6.
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
Hartley T, Marshall D, Acker M, Fooks K, Gillespie M, Price E, et al.
Genet Med . 2023 Nov; 26(2):101012. PMID: 37924259
Purpose: To evaluate the diagnostic utility of publicly funded clinical exome sequencing (ES) for patients with suspected rare genetic diseases. Methods: We prospectively enrolled 297 probands who met eligibility criteria...
7.
RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report
Marshall A, MacDonald S, Liang Y, Couse M, Boycott K, Richer J, et al.
Mol Genet Genomic Med . 2023 Jul; 11(10):e2247. PMID: 37489014
Background: Intronic variants outside the canonical splice site are challenging to interpret and therefore likely represent an underreported cause of human disease. Autosomal recessive variants in DYNC2H1 are associated with...
8.
First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit
Hunter-Schouela J, Geraghty M, Hegele R, Dyment D, St Pierre D, Richer J, et al.
Pediatr Pulmonol . 2023 Apr; 58(7):1942-1949. PMID: 37088965
Background: Primary ciliary dyskinesia (PCD) is typically an autosomal recessive disease characterized by recurrent infections of the lower respiratory tract, frequent and severe otitis media, chronic rhinosinusitis, neonatal respiratory distress,...
9.
Nonstop mRNAs generate a ground state of mitochondrial gene expression noise
Ng K, Lutfullahoglu Bal G, Richter U, Safronov O, Paulin L, Dunn C, et al.
Sci Adv . 2022 Nov; 8(46):eabq5234. PMID: 36399564
A stop codon within the mRNA facilitates coordinated termination of protein synthesis, releasing the nascent polypeptide from the ribosome. This essential step in gene expression is impeded with transcripts lacking...
10.
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
Hartley T, Soubry E, Acker M, Osmond M, Couse M, Gillespie M, et al.
Clin Genet . 2022 Nov; 103(3):288-300. PMID: 36353900
We examined the utility of clinical and research processes in the reanalysis of publicly-funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites, we recruited 287 families...