Skip to Main Content

Author Details

Julie Richer
University of Ottawa, Canada Children's Hospital of Eastern Ontario
2005
46
19
Vardit Ravitsky (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37924259Evaluation 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.Genet Med2024
36353900Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.Clin Genet2023
37489014RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.Mol Genet Genomic Med2023
37949520The 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 Surgery/Canadian Association for Interventional Radiology.Can J Cardiol2023
37088965First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.Pediatr Pulmonol2023
35103570Expanded Prenatal Testing: Maintaining a Non-Directive Approach to Promote Reproductive Autonomy.Am J Bioeth2022
35762247Letter to the Editor Regarding Lavanya et al. A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.Am J Med Genet A2022
35756968<i>NTRK1</i>-related Hereditary Sensory and Autonomic Neuropathy Type 4: The Role of the Histamine Challenge Test.Child Neurol Open2022
35859684Genetic testing and screening in children.Paediatr Child Health2022
36399564Nonstop mRNAs generate a ground state of mitochondrial gene expression noise.Sci Adv2022
36219981Generation and validation of an iPSC line (BBANTWi008-A) from a Loeys-Dietz Syndrome type 3 patient.Stem Cell Res2022
35977029De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.Sci Adv2022
35051598Who to Screen for Thoracic Aortic Aneurysms, and When to Refer for Surgery.Can J Cardiol2022
34715011Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.Am J Hum Genet2021
32938213A Novel Recurrent <i>COL5A1</i> Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.Arterioscler Thromb Vasc Biol2020
30951675The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results.Am J Hum Genet2019
29967133Novel pathogenic <i>SMAD2</i> variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.J Med Genet2019
29875419Secondary findings from next-generation sequencing: what does actionable in childhood really mean?Genet Med2019
31307361Toward Broader Genetic Contextualism: Genetic Testing Enters the Age of Evidence-Based Medicine.Am J Bioeth2019
28822975Choosing Wisely Canada: The Canadian College of Medical Geneticists' (CCMG) list of five items physicians and patients should question.J Med Genet2018
30160830Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.Am J Med Genet A2018
30090841Worster-Drought Syndrome Associated With <i>LINS</i> Mutations.Child Neurol Open2018
30425922Valproic acid as a monotherapy in drug-resistant methyl-CpG-binding protein 2 gene (MECP2) duplication-related epilepsy.Epilepsy Behav Case Rep2018
29392890A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.Hum Mutat2018
29152901Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome.Am J Med Genet B Neuropsychiatr Genet2018
29300374Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.Genet Med2018
27632686Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.Genet Med2017
28488422Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.Am J Med Genet A2017
28170084Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.Clin Genet2017
26724511Screening Children for Familial Aortopathies: Tread With Caution.Can J Cardiol2016
26507355Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.Hum Mutat2016
26283276Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.Clin Genet2016
27241786Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.CMAJ2016
25425531Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation.Am J Med Genet A2015
26480306Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.Am J Med Genet A2015
26307080Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.Hum Mol Genet2015
25951830The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.J Med Genet2015
25655089De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.Hum Mutat2015
24356209Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases.J Med Ethics2014
21943145CCMG statement on direct-to-consumer genetic testing.Clin Genet2012
23051176CCMG statement on gene patents.Clin Genet2012
22302747R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.Am J Med Genet A2012
20921895Research use of leftover newborn bloodspots: attitudes of Canadian geneticists regarding storage and informed consent requirements.Genet Med2011
20354439Distal trisomy 10q syndrome: phenotypic features in a child with inverted duplicated 10q25.1-q26.3.Clin Dysmorphol2010
17159239Differential response induced by exposure to low-dose ionizing radiation in SHSY-5Y and normal human fibroblast cells.Appl Biochem Biotechnol2006
16143020The hemoglobinopathies and malaria.Clin Genet2005
  • 1 - 46 of 46

Recommended Authors

Casie A Genetti
Boston Children's Hospital
Career Start Year 2015
Number of shared co-authors 7
Hui-Lin Chin
Yong Loo Lin School of Medicine, National University of Singapore
Career Start Year 2015
Number of shared co-authors 1
Carolyn D Applegate
Johns Hopkins University School of Medicine
Career Start Year 2012
Number of shared co-authors 6
Shagun Aggarwal
Nizam's Institute of Medical Sciences
Career Start Year 2010
Number of shared co-authors 1
Saumya Shekhar Jamuar
Pediatric Academic Clinical Programme, Duke-NUS Medical School
Career Start Year 2010
Number of shared co-authors 3
Monica H Wojcik
Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Career Start Year 2010
Number of shared co-authors 8
David Dimmock
Rady Children's Institute for Genomic Medicine
Career Start Year 2007
Number of shared co-authors 5
Gareth Baynam
King Edward Memorial Hospital
Career Start Year 2006
Number of shared co-authors 16
Nara Sobreira
Johns Hopkins University
Career Start Year 2006
Number of shared co-authors 9
David T Miller
Boston Children's Hospital
Career Start Year 2005
Number of shared co-authors 8
Jennifer E Posey
Baylor College of Medicine
Career Start Year 2004
Number of shared co-authors 13
Heidi Cope
GenOmics and Translational Research Center
Career Start Year 2002
Number of shared co-authors 1
Zornitza Stark
Murdoch Children's Research Institute
Career Start Year 2001
Number of shared co-authors 17
Loren D M Pena
Duke University Medical Center
Career Start Year 2001
Number of shared co-authors 3
Tony Roscioli
Prince of Wales Hospital
Career Start Year 2000
Number of shared co-authors 10
Jonathan A Bernstein
Stanford University
Career Start Year 2000
Number of shared co-authors 15
Jennifer A Sullivan
Duke University School of Medicine
Career Start Year 1999
Number of shared co-authors 6
Vernon R Sutton
Baylor College of Medicine
Career Start Year 1997
Number of shared co-authors 9
Fuki M Hisama
University of Washington
Career Start Year 1996
Number of shared co-authors 10
Pankaj B Agrawal
Broad Institute of MIT and Harvard
Career Start Year 1995
Number of shared co-authors 11
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Career Start Year 1993
Number of shared co-authors 23
Ada Hamosh
Johns Hopkins University School of Medicine
Career Start Year 1991
Number of shared co-authors 13
Helen V Firth
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Career Start Year 1990
Number of shared co-authors 14
Nicola K Poplawski
Royal Adelaide Hospital
Career Start Year 1990
Number of shared co-authors 0
Patrick J Morrison
Belfast City Hospital
Career Start Year 1989
Number of shared co-authors 2
Sally Ann Lynch
University College Dublin
Career Start Year 1989
Number of shared co-authors 17
David Bick
Genomics England Ltd.
Career Start Year 1987
Number of shared co-authors 5
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Career Start Year 1987
Number of shared co-authors 23
Siddharth Banka
University of Manchester
Career Start Year 1986
Number of shared co-authors 17
Gholson J Lyon
NYS Institute for Basic Research in Developmental Disabilities .
Career Start Year 1972
Number of shared co-authors 10

Collaborators

Kym M Boycott
Children's Hospital of Eastern Ontario
Co-authored papers 13
Taila Hartley
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 8
Anne-Marie Laberge
UNIVERSITY OF MONTREAL
Co-authored papers 6
Hugh J McMillan
Montreal Children's Hospital, McGill University
Co-authored papers 4
Chandree L Beaulieu
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
Co-authored papers 3
Bridget A Fernandez
Memorial University of Newfoundland
Co-authored papers 3
Lauren Chad
Hospital for Sick Children, Canada University of Toronto
Co-authored papers 2
Linlea Armstrong
University of British Columbia
Co-authored papers 2
Robert W Taylor
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 2
Aren E Marshall
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
Co-authored papers 2
Bartha Maria Knoppers
McGill University
Co-authored papers 2
Mark A Tarnopolsky
McMaster University Medical Center
Co-authored papers 2
Santhi K Ganesh
Co-authored papers 2
Vardit Ravitsky (CM4AI)
The Hastings Center
Co-authored papers 2
Lijia Huang
Children's Hospital of Eastern Ontario (CHEO)
Co-authored papers 2
Brendan J Keating
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 1
Kyle Thompson
Translational and Clinical Research Institute, Newcastle University
Co-authored papers 1
Sarju G Mehta
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 1
Asif Doja
University of Ottawa
Co-authored papers 1
Elaine H Zackai
Children's Hospital of Philadelphia
Co-authored papers 1
Stacey Hume
University of British Colombia
Co-authored papers 1
Ingrid L Bergin
University of Michigan ann arbor
Co-authored papers 1
Tierry M Laforce
University of Montreal.
Co-authored papers 1
Matthew Zawistowski
Co-authored papers 1
Ian D Krantz
Children's Hospital of Philadelphia
Co-authored papers 1
Chad M Brummett
Co-authored papers 1
Gail P Jarvik
University of Washington Medical Center
Co-authored papers 1
Marie-Christine Roy
Universite de Montreal.
Co-authored papers 1
Jennifer K Wagner
Pennsylvania State University, University Park
Co-authored papers 1
Christian R Marshall
Co-authored papers 1
Release 1.2