C. Morel

发表

Reappraisal of Reported Genes for Sudden Arrhythmic Death

Michael J. Ackerman, Seema M Jamal, Gregory Costain, 2018, Circulation.

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study

A. Noor, Y. Bombard, S. Horsburgh, 2020, Journal of Medical Genetics.

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

Urvashi Surti, Swaroop Aradhya, Margaret P Adam, 2010, American journal of human genetics.

Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.

C. Morel, A. Feigenbaum, A. Levin, 2008, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products.

L. Lynd, C. Morel, C. Hollak, 2020, Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research.

The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease.

C. Morel, J. Clarke, Joe T R Clarke, 2009, Expert opinion on biological therapy.

A case of secondary acute myeloid leukemia on a background of glycogen storage disease with chronic neutropenia treated with granulocyte colony stimulating factor

C. Morel, H. Faghfoury, D. A. Weinstein, 2019, JIMD reports.

Erratum: Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia (The American Journal of Human Genetics (2010) 87 (618-630))

Stephan J Sanders, D. Ledbetter, U. Surti, 2011 .

The Expanding Clinical Spectrum of Extracardiovascular and Cardiovascular Manifestations of Heritable Thoracic Aortic Aneurysm and Dissection.

R. Pyeritz, C. Morel, S. Bowdin, 2016, The Canadian journal of cardiology.

Novel folliculin gene mutation and an elevated serum vascular endothelial growth factor-D level in the context of cystic lung disease

C. Morel, V. Hoffstein, G. Lorello, 2020, Canadian Journal of Respiratory, Critical Care, and Sleep Medicine.

Left Ventricular Mass and Wall Thickness Measurements Using Echocardiography and Cardiac MRI in Patients with Fabry Disease: Clinical Significance of Discrepant Findings.

C. Morel, P. Thavendiranathan, A. Woo, 2020, Radiology. Cardiothoracic imaging.

Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations.

A. Kirton, J. Shoffner, C. Morel, 2009, Pediatric neurology.

Title Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease

M. Ng, C. Morel, A. Crean, 2016 .

The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease

C. Morel, J. Clarke, 2009 .

Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics

R. Chan, H. Rakowski, C. Morel, 2020, Circulation. Genomic and precision medicine.

Left Ventricular Hypertrophy and Late Gadolinium Enhancement at Cardiac MRI Are Associated with Adverse Cardiac Events in Fabry Disease.

C. Morel, R. Wald, K. Hanneman, 2019, Radiology.

The Safety of Agalsidase Alfa Enzyme Replacement Therapy in Canadian Patients with Fabry Disease Following Implementation of a Bioreactor Process

C. Morel, Aneal Khan, D. Bichet, 2021, Drugs in R&D.

Lentivirus-mediated gene therapy for Fabry disease

J. Medin, C. Morel, Aneal Khan, 2021, Nature Communications.

Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q.

T. Farid, L. Harris, C. Morel, 2012, Heart rhythm.

Genetic testing for dilated cardiomyopathy in clinical practice.

Nicole M. Johnson, W. Chung, J. Seidman, 2012, Journal of cardiac failure.

The Roberts syndrome/SC phocomelia spectrum—A case report of an adult with review of the literature

S. Horsburgh, C. Morel, Y. Kasai, 2010, American journal of medical genetics. Part A.

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

E. Shoubridge, J. Rommens, H. Antonicka, 2006, Nature Genetics.

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype–phenotype correlations

M. Baumgartner, T. Suormala, T. Pastinen, 2009, Human mutation.

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

C. Morel, D. Rosenblatt, J. Lerner-Ellis, 2006, Molecular genetics and metabolism.

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

M. Baumgartner, K. Mills, C. Morel, 2014, Brain : a journal of neurology.

Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport.

C. Morel, P. Rinaldo, D. Watkins, 2005, Molecular genetics and metabolism.

Persistent hematopoietic polyclonality after lentivirus-mediated gene therapy for Fabry disease

A. Schambach, J. Medin, C. Morel, 2023, Molecular therapy. Methods & clinical development.

Patterns of cardiac and extracardiac anomalies in adults with tetralogy of fallot.

A. Bassett, C. Silversides, C. Morel, 2011, American heart journal.

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

C. Cytrynbaum, R. Weksberg, R. Kingston, 2020, American journal of human genetics.

Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

E. Shoubridge, J. Rommens, H. Antonicka, 2006, Nature Genetics.

A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.

M. Shago, P. Hainaut, L. Hudgins, 2010, American journal of human genetics.

The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care

A. Laupacis, C. Earle, Y. Bombard, 2021, Genetics in Medicine.

Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial

A. Laupacis, Y. Bombard, K. Offit, 2019, BMJ Open.

Renal thrombotic microangiopathy and pulmonary arterial hypertension in a patient with late-onset cobalamin C deficiency

M. E. Ramirez, C. Morel, J. Granton, 2017, Clinical kidney journal.

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

Arun K. Ramani, C. Marshall, M. Tarnopolsky, 2022, Clinical genetics.

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, npj Genomic Medicine.

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, NPJ genomic medicine.

0021-972X/06/$15.00/0 The Journal of Clinical Endocrinology & Metabolism 91(7):2689–2695 Printed in U.S.A. Copyright © 2006 by The Endocrine Society doi: 10.1210/jc.2005-2746 A LMNA Splicing Mutation in Two Sisters with Severe Dunnigan-Type Familial Parti

Robert A Hegele, Henian Cao, J Geoffrey Pickering, 2022 .

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

E. Zackai, J. Allanson, F. Quintero-Rivera, 2016, Human mutation.

Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease.

R. Kim, C. Morel, H. Faghfoury, 2019, European journal of medical genetics.

Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association

B. Dickson, S. Asa, S. Ezzat, 2015, Virchows Archiv.

Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent.

J. Mendell, Daniel No, C. Morel, 2010, Genetic testing and molecular biomarkers.

Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome

M. Tartaglia, C. Morel, S. Cabrera, 2016, American journal of medical genetics. Part A.

Loss of base-to-apex circumferential strain gradient assessed by cardiovascular magnetic resonance in Fabry disease: relationship to T1 mapping, late gadolinium enhancement and hypertrophy

B. Wintersperger, C. Morel, E. Nguyen, 2019, Journal of Cardiovascular Magnetic Resonance.

Increased Spread of Native T1 Assessed by MRI is a Marker of Cardiac Involvement in Fabry Disease.

C. Morel, R. Wald, K. Hanneman, 2020, AJR. American journal of roentgenology.

Prognostic Significance of Cardiac Magnetic Resonance Imaging Late Gadolinium Enhancement in Fabry Disease.

C. Morel, K. Hanneman, R. Iwanochko, 2018, Circulation.

Use of Myocardial T1 Mapping at 3.0 T to Differentiate Anderson-Fabry Disease from Hypertrophic Cardiomyopathy.

C. Morel, A. Crean, P. Thavendiranathan, 2018, Radiology.

Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease

M. Ng, C. Morel, A. Crean, 2016, Journal of Cardiovascular Magnetic Resonance.

Clinical Significance of Papillary Muscles on Left Ventricular Mass Quantification Using Cardiac Magnetic Resonance Imaging

C. Morel, E. Nguyen, K. Hanneman, 2020, Journal of thoracic imaging.

Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay.

R. Rozen, C. Morel, E. Christensen, 2005, Molecular genetics and metabolism.

Whole exome sequencing identified 1 base pair novel deletion in BCL2‐associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members

M. Rafiq, C. Morel, M. Care, 2017, American journal of medical genetics. Part A.

Metabolic cardiomyopathy from propionic acidemia precipitating cardiac arrest in a 25-year-old man

C. Morel, Sheldon M. Singh, N. Tan, 2018, Canadian Medical Association Journal.

Late‐onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance

C. Morel, D. Rosenblatt, A. Tsai, 2007, American journal of medical genetics. Part A.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Jill A. Madden, J. Rosenfeld, J. R. Younce, 2023, medRxiv.

Quality of life drives patients’ preferences for secondary findings from genomic sequencing

S. Scherer, A. Laupacis, C. Earle, 2020, European Journal of Human Genetics.

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features

A. Bayat, P. Lapunzina, F. Santos-Simarro, 2021, Clinical genetics.

A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2.

W. Foulkes, R. Hegele, H. Cao, 2006, The Journal of clinical endocrinology and metabolism.

Great expectations: patients’ preferences for clinically significant results from genomic sequencing

A. Laupacis, C. Earle, Y. Bombard, 2023, Human Genetics.

Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q.

T. Farid, L. Harris, C. Morel, 2012, Heart rhythm.

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

Stephan J Sanders, D. Ledbetter, U. Surti, 2010, American journal of human genetics.

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.

A. Need, M. Kayikci, M. Caulfield, 2023, Kidney international.

A model for the return and referral of all clinically significant secondary findings of genomic sequencing

Y. Bombard, A. Eisen, C. Morel, 2023, Journal of Medical Genetics.

Patterns of cardiac and extracardiac anomalies in adults with tetralogy of fallot.

A. Bassett, C. Silversides, C. Morel, 2011, American heart journal.