Julie Richer
Julie Richer
Verified email at cheo.on.ca
Title
Cited by
Cited by
Year
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
SL Sawyer, T Hartley, DA Dyment, CL Beaulieu, J Schwartzentruber, ...
Clinical genetics 89 (3), 275-284, 2016
2022016
The clinical application of genome-wide sequencing for monogenic diseases in Canada: position statement of the Canadian College of Medical Geneticists
K Boycott, T Hartley, S Adam, F Bernier, K Chong, BA Fernandez, ...
Journal of Medical Genetics 52 (7), 431-437, 2015
962015
Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases
E Kleiderman, BM Knoppers, CV Fernandez, KM Boycott, G Ouellette, ...
Journal of Medical Ethics 40 (10), 691-696, 2014
652014
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit
H Daoud, SM Luco, R Li, E Bareke, C Beaulieu, O Jarinova, N Carson, ...
Cmaj 188 (11), E254-E260, 2016
522016
R179H mutation in ACTA2 expanding the phenotype to include prune‐belly sequence and skin manifestations
J Richer, DM Milewicz, R Gow, J De Nanassy, G Maharajh, E Miller, ...
American Journal of Medical Genetics Part A 158 (3), 664-668, 2012
472012
De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes
MC Gil‐Rodríguez, MA Deardorff, M Ansari, CA Tan, I Parenti, ...
Human mutation 36 (4), 454-462, 2015
452015
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections
JAN Meester, G Vandeweyer, I Pintelon, M Lammens, L Van Hoorick, ...
Genetics in Medicine 19 (4), 386-395, 2017
402017
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing
TB Balci, T Hartley, Y Xi, DA Dyment, CL Beaulieu, FP Bernier, L Dupuis, ...
Clinical genetics 92 (3), 281-289, 2017
392017
A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3
D Schepers, G Tortora, H Morisaki, G MacCarrick, M Lindsay, D Liang, ...
Human mutation 39 (5), 621-634, 2018
342018
Canadian College of Medical Geneticists. The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of …
K Boycott, T Hartley, S Adam, F Bernier, K Chong, BA Fernandez, ...
J Med Genet 52 (7), 431-437, 2015
262015
The hemoglobinopathies and malaria: Section Editor: Albert E. Chudley, email: achudley@ hsc. mb. ca
J Richer, AE Chudley
Clinical genetics 68 (4), 332-336, 2005
252005
The responsibility to recontact research participants after reinterpretation of genetic and genomic research results
Y Bombard, KB Brothers, S Fitzgerald-Butt, G Nanibaa’A, L Jamal, ...
The American Journal of Human Genetics 104 (4), 578-595, 2019
222019
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature …
KD Kernohan, M Tétreault, U Liwak-Muir, MT Geraghty, W Qin, ...
Human molecular genetics 24 (22), 6293-6300, 2015
202015
Mandibulofacial dysostosis with microcephaly: mutation and database update
L Huang, MR Vanstone, T Hartley, M Osmond, N Barrowman, J Allanson, ...
Human mutation 37 (2), 148-154, 2016
152016
Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome
TB Balci, J Davila, D Lewis, A Boafo, E Sell, J Richer, SM Nikkel, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177 …, 2018
122018
Distal trisomy 10q syndrome: phenotypic features in a child with inverted duplicated 10q25. 1–q26. 3
MT Carter, S Dyack, J Richer
Clinical dysmorphology 19 (3), 140-145, 2010
122010
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations
ES Regalado, L Mellor-Crummey, J De Backer, AC Braverman, L Ades, ...
Genetics in Medicine 20 (10), 1206-1215, 2018
102018
Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort
F Malam, T Hartley, MK Gillespie, CM Armour, E Bariciak, GE Graham, ...
American Journal of Medical Genetics Part A 173 (7), 1839-1847, 2017
102017
CCMG statement on direct‐to‐consumer genetic testing
TN Nelson, L Armstrong, J Richer, J Evans, J Lauzon, B McGillivray, ...
Clinical genetics 81 (1), 1, 2012
102012
Research use of leftover newborn bloodspots: Attitudes of Canadian geneticists regarding storage and informed consent requirements
J Richer, MS Ghebremichael, AE Chudley, WM Robinson, BS Wilfond, ...
Genetics in Medicine 13 (4), 305-313, 2011
102011
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