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Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia

Nature communications, 2023-11, Vol.14 (1), p.7054-7054, Article 7054

2023

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Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia

Nature communications, 2024-04, Vol.15 (1), p.3655-3655, Article 3655

2024

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A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome

Scientific reports, 2021-05, Vol.11 (1), p.9560-9560, Article 9560

2021

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Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience

Genes, 2022-11, Vol.13 (11), p.2019

2022

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Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Brain (London, England : 1878), 2022-07, Vol.145 (7), p.2301-2312

2022

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Cysteinyl leukotriene signaling through perinuclear CysLT1 receptors on vascular smooth muscle cells transduces nuclear calcium signaling and alterations of gene expression

Journal of molecular medicine (Berlin, Germany), 2012-10, Vol.90 (10), p.1223-1231

2012

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Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)

Journal of medical genetics, 2023-06, Vol.60 (6), p.523-532

2023

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Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.510-517

2023

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When to think outside the autozygome: Best practices for exome sequencing in “consanguineous” families

Clinical genetics, 2020-06, Vol.97 (6), p.835-843

2020

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Delineating the expanding phenotype of HERC2‐related disorders: The impact of biallelic loss of function versus missense variation

Clinical genetics, 2021-11, Vol.100 (5), p.637-640

2021

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The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.338-347

2023

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Strategic Variants of CSP Delivered as SynDNA Vaccines Demonstrate Heterogeneity of Immunogenicity and Protection from Plasmodium Infection in a Murine Model

Infection and immunity, 2021-09, Vol.89 (10), p.e0072820-e0072820

2021

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The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-12, Vol.178 (4), p.458-463

2018

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Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Clinical genetics, 2023-03, Vol.103 (3), p.288-300

2023

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Is PNPT1‐related hearing loss ever non‐syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1‐related disorders

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2487-2493

2018

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Genetic mechanisms of neurodevelopmental disorders

Handbook of Clinical Neurology, 2020, Vol.173, p.307-326

2020

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Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type

European journal of medical genetics, 2020-02, Vol.63 (2), p.103655-103655, Article 103655

2020

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Abstract 152: Upregulation of the Cysteinyl Leukotriene Receptor-1 in Human Coronary Artery Smooth Muscle Cells Transduces Nuclear Calcium Signaling and Alterations of Gene Expression

Arteriosclerosis, thrombosis, and vascular biology, 2012-05, Vol.32 (suppl_1)

2012

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15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder

Journal of neurology, neurosurgery and psychiatry, 2019-12, Vol.90 (12), p.e4.3-e5

2019

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Cysteinyl leukotriene signaling through perinuclear CysLT sub(1) receptors on vascular smooth muscle cells transduces nuclear calcium signaling and alterations of gene expression

Journal of molecular medicine (Berlin, Germany), 2012-10, Vol.90 (10), p.1223-1231

2012

Volltextzugriff (PDF)

Cysteinyl leukotriene signaling through perinuclear CysLT^sub 1^ receptors on vascular smooth muscle cells transduces nuclear calcium signaling and alterations of gene expression

Journal of molecular medicine (Berlin, Germany), 2012-10, Vol.90 (10), p.1223

2012

Volltextzugriff (PDF)

Cysteinyl leukotriene signaling through perinuclear CysLT(1) receptors on vascular smooth muscle cells transduces nuclear calcium signaling and alterations of gene expression

Journal of molecular medicine (Berlin, Germany), 2012-10, Vol.90 (10), p.1223-1231

2012

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Cover Image, Volume 176A, Number 5, May 2018

American journal of medical genetics. Part A, 2018-05, Vol.176 (5)

2018

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Flavonoids, potent inhibitors of the human P-form phenolsulfotransferase. Potential role in drug metabolism and chemoprevention

Drug metabolism and disposition, 1996-02, Vol.24 (2), p.232

1996

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Quercetin, a potent and specific inhibitor of the human P-form phenolsulfotransferase

Biochemical pharmacology, 1995-08, Vol.50 (5), p.731-734

1995

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Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia

Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia

A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome

Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Cysteinyl leukotriene signaling through perinuclear CysLT1 receptors on vascular smooth muscle cells transduces nuclear calcium signaling and alterations of gene expression

Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)

Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics

When to think outside the autozygome: Best practices for exome sequencing in “consanguineous” families

Delineating the expanding phenotype of HERC2‐related disorders: The impact of biallelic loss of function versus missense variation

The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience

Strategic Variants of CSP Delivered as SynDNA Vaccines Demonstrate Heterogeneity of Immunogenicity and Protection from Plasmodium Infection in a Murine Model

The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Is PNPT1‐related hearing loss ever non‐syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1‐related disorders

Genetic mechanisms of neurodevelopmental disorders

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type

Abstract 152: Upregulation of the Cysteinyl Leukotriene Receptor-1 in Human Coronary Artery Smooth Muscle Cells Transduces Nuclear Calcium Signaling and Alterations of Gene Expression

15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder

Cysteinyl leukotriene signaling through perinuclear CysLT sub(1) receptors on vascular smooth muscle cells transduces nuclear calcium signaling and alterations of gene expression

Cysteinyl leukotriene signaling through perinuclear CysLT^sub 1^ receptors on vascular smooth muscle cells transduces nuclear calcium signaling and alterations of gene expression

Cysteinyl leukotriene signaling through perinuclear CysLT(1) receptors on vascular smooth muscle cells transduces nuclear calcium signaling and alterations of gene expression

Cover Image, Volume 176A, Number 5, May 2018

Flavonoids, potent inhibitors of the human P-form phenolsulfotransferase. Potential role in drug metabolism and chemoprevention

Quercetin, a potent and specific inhibitor of the human P-form phenolsulfotransferase

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