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Author Details

Christ??le du Souich
University of British Columbia
1998
25
13
PMIDPaper TitleJournal TitlePublished Year
33470133Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study.J Telemed Telecare2023
34165210After genomic testing results: Parents' long-term views.J Genet Couns2022
35442193The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.Genet Med2022
35599849Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.HGG Adv2022
31840929Renpenning syndrome in a female.Am J Med Genet A2020
31172278RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.Eur J Pediatr2019
30964583Genetic counseling considerations with rapid genome-wide sequencing in a neonatal intensive care unit.J Genet Couns2019
29300375The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.Genet Med2018
29851296The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia.Mol Genet Genomic Med2018
28884888FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?Am J Med Genet A2017
27179618Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.Orphanet J Rare Dis2016
27513830Phenotypic evolution of UNC80 loss of function.Am J Med Genet A2016
253553684q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency.Am J Med Genet A2015
24700502Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.Am J Med Genet A2014
2120479719p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression.Clin Genet2012
22238415FLNA genomic rearrangements cause periventricular nodular heterotopia.Neurology2012
22113624Expression profile of NSDHL in human peripheral tissues.J Mol Histol2012
22065481Minimal genotype--phenotype correlation for small deletions within distal 1p36.Am J Med Genet A2011
21129721Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.Am J Hum Genet2010
19253384A novel syndrome with psychiatric features and review of malformation syndromes with psychiatric disorders.Am J Med Genet A2009
19842190Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.Am J Med Genet A2009
19673952Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature.Clin Genet2009
11508899Attention deficity/hyperactivity in SLI children increases risk of speech/language disorders in first-degree relatives: a preliminary report.J Commun Disord2001
11086027Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.J Clin Invest2000
9484998Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada.Arterioscler Thromb Vasc Biol1998
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Collaborators

Cornelius F Boerkoel
University of British Columbia
Co-authored papers 14
Linlea Armstrong
University of British Columbia
Co-authored papers 3
Lijia Huang
Children's Hospital of Eastern Ontario (CHEO)
Co-authored papers 2
William A Gahl
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
David R Adams
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
Laura Arbour
Center for Cardiovascular Innovation, University of British Columbia
Co-authored papers 2
May Christine V Malicdan
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
Valerie Maduro
NIH and National Human Genome Research Institute
Co-authored papers 2
Michael R Hayden
Co-authored papers 2
Camilo Toro
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
Lorne Clarke
University of British Columbia
Co-authored papers 2
Dan Goldowitz
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Co-authored papers 1
Pierre Boerkoel
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Co-authored papers 1
Charles E Schwartz
Co-authored papers 1
Damian Smedley
William Harvey Research Institute, Queen Mary University of London
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Amanda E Links
National Institutes of Health
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Elise Flynn
Royal Children's Hospital
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Christopher A Walsh
Broad Institute of MIT and Harvard
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Nour Gazzaz
University of British Columbia
Co-authored papers 1
Iulia Handra
The University of British Columbia, Women's Hospital of British Columbia
Co-authored papers 1
Kent Shefchek
University of Colorado Anschutz Medical Campus
Co-authored papers 1
Nan Zhang
Co-authored papers 1
Steven J M Jones
University of British Columbia
Co-authored papers 1
Julius O B Jacobsen
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 1
Gail E Herman
12306The Ohio State University
Co-authored papers 1
Marco A Marra
University of British Columbia
Co-authored papers 1
Stephanie Huynh
The University of British Columbia, Women's Hospital of British Columbia
Co-authored papers 1
Tesa M Severson
Oncode Institute, The Netherlands Cancer Institute
Co-authored papers 1
Yingleong Chan
Co-authored papers 1
Melissa A Haendel
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Release 1.2