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Author Details

Cornelius F Boerkoel
University of British Columbia
1987
162
41
PMIDPaper TitleJournal TitlePublished Year
36866832NOTCH1 loss of the TAD and PEST domain: An antimorph?Am J Med Genet A2023
37665043Are CUL3 variants an underreported cause of congenital heart disease?Am J Med Genet A2023
36714130The practice of genomic medicine: A delineation of the process and its governing principles.Front Med (Lausanne)2023
37141437Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?Am J Med Genet A2023
37196051Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-related disorder.Am J Med Genet A2023
36866832NOTCH1 loss of the TAD and PEST domain: An antimorph?Am J Med Genet A2023
37665043Are CUL3 variants an underreported cause of congenital heart disease?Am J Med Genet A2023
37141437Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?Am J Med Genet A2023
37196051Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-related disorder.Am J Med Genet A2023
36714130The practice of genomic medicine: A delineation of the process and its governing principles.Front Med (Lausanne)2023
34558799Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1-related disease.Am J Med Genet A2022
35442193The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.Genet Med2022
35946377Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?Am J Med Genet A2022
36068917Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.Prenat Diagn2022
35599849Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.HGG Adv2022
35063693Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?Eur J Med Genet2022
34558799Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1-related disease.Am J Med Genet A2022
34825470An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?Am J Med Genet A2022
35122461Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia.Am J Med Genet A2022
35287663Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets.BMC Med Genomics2022
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
36068917Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.Prenat Diagn2022
35946377Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?Am J Med Genet A2022
35287663Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets.BMC Med Genomics2022
35122461Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia.Am J Med Genet A2022
35063693Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?Eur J Med Genet2022
34825470An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?Am J Med Genet A2022
34018669An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.Am J Med Genet A2021
34018669An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.Am J Med Genet A2021
34186028Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.Am J Hum Genet2021
34186028Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.Am J Hum Genet2021
31730267Pan-cancer RNA-seq data stratifies tumours by some hallmarks of cancer.J Cell Mol Med2020
31730267Pan-cancer RNA-seq data stratifies tumours by some hallmarks of cancer.J Cell Mol Med2020
30639323Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.Am J Hum Genet2019
30423312Glycomics in rare diseases: from diagnosis tomechanism.Transl Res2019
30476213Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.Nucleic Acids Res2019
30639323Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.Am J Hum Genet2019
31185186A Novel <i>AMELX</i> Mutation, Its Phenotypic Features, and Skewed X Inactivation.J Dent Res2019
31353024Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.Am J Hum Genet2019
31185186A Novel <i>AMELX</i> Mutation, Its Phenotypic Features, and Skewed X Inactivation.J Dent Res2019
31353024Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.Am J Hum Genet2019
30423312Glycomics in rare diseases: from diagnosis tomechanism.Transl Res2019
30476213Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.Nucleic Acids Res2019
29348635Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.Nat Commun2018
29348635Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.Nat Commun2018
29523818Reactive oxygen species stress increases accumulation of tyrosyl-DNA phsosphodiesterase 1 within mitochondria.Sci Rep2018
29632381Plain-language medical vocabulary for precision diagnosis.Nat Genet2018
29523818Reactive oxygen species stress increases accumulation of tyrosyl-DNA phsosphodiesterase 1 within mitochondria.Sci Rep2018
29632381Plain-language medical vocabulary for precision diagnosis.Nat Genet2018
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Collaborators

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Co-authored papers 30
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Co-authored papers 18
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Co-authored papers 18
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Co-authored papers 17
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Co-authored papers 17
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Co-authored papers 15
University of British Columbia
Co-authored papers 14
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Co-authored papers 13
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Co-authored papers 12
National Institute of Allergy and Infectious Diseases
Co-authored papers 12
NIH and National Human Genome Research Institute
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National Human Genome Research Institute, National Institutes of Health
Co-authored papers 10
Sanford School of Medicine, University of South Dakota
Co-authored papers 9
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 8
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University of Pennsylvania - Perelman School of Medicine
Co-authored papers 8
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William Harvey Research Institute, Queen Mary University of London
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Maryland Inova Translational Medicine Institute, Inova Health System
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Yong Loo Lin School of Medicine, National University of Singapore
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Children's Hospital of Philadelphia
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William Harvey Research Institute, Queen Mary University of London
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University of California San Francisco
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University of Toronto
Co-authored papers 5